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chr18_clinvar.vcf
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##fileformat=VCFv4.1
##fileDate=2018-07-01
##source=ClinVar
##reference=GRCh38
##ID=<Description="ClinVar Variation ID">
##INFO=<ID=AF_ESP,Number=1,Type=Float,Description="allele frequencies from GO-ESP">
##INFO=<ID=AF_EXAC,Number=1,Type=Float,Description="allele frequencies from ExAC">
##INFO=<ID=AF_TGP,Number=1,Type=Float,Description="allele frequencies from TGP">
##INFO=<ID=ALLELEID,Number=1,Type=Integer,Description="the ClinVar Allele ID">
##INFO=<ID=CLNDN,Number=.,Type=String,Description="ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLNDNINCL,Number=.,Type=String,Description="For included Variant : ClinVar's preferred disease name for the concept specified by disease identifiers in CLNDISDB">
##INFO=<ID=CLNDISDB,Number=.,Type=String,Description="Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN">
##INFO=<ID=CLNDISDBINCL,Number=.,Type=String,Description="For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN">
##INFO=<ID=CLNHGVS,Number=.,Type=String,Description="Top-level (primary assembly, alt, or patch) HGVS expression.">
##INFO=<ID=CLNREVSTAT,Number=.,Type=String,Description="ClinVar review status for the Variation ID">
##INFO=<ID=CLNSIG,Number=.,Type=String,Description="Clinical significance for this single variant">
##INFO=<ID=CLNSIGCONF,Number=.,Type=String,Description="Conflicting clinical significance for this single variant">
##INFO=<ID=CLNSIGINCL,Number=.,Type=String,Description="Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance.">
##INFO=<ID=CLNVC,Number=1,Type=String,Description="Variant type">
##INFO=<ID=CLNVCSO,Number=1,Type=String,Description="Sequence Ontology id for variant type">
##INFO=<ID=CLNVI,Number=.,Type=String,Description="the variant's clinical sources reported as tag-value pairs of database and variant identifier">
##INFO=<ID=DBVARID,Number=.,Type=String,Description="nsv accessions from dbVar for the variant">
##INFO=<ID=GENEINFO,Number=1,Type=String,Description="Gene(s) for the variant reported as gene symbol:gene id. The gene symbol and id are delimited by a colon (:) and each pair is delimited by a vertical bar (|)">
##INFO=<ID=MC,Number=.,Type=String,Description="comma separated list of molecular consequence in the form of Sequence Ontology ID|molecular_consequence">
##INFO=<ID=ORIGIN,Number=.,Type=String,Description="Allele origin. One or more of the following values may be added: 0 - unknown; 1 - germline; 2 - somatic; 4 - inherited; 8 - paternal; 16 - maternal; 32 - de-novo; 64 - biparental; 128 - uniparental; 256 - not-tested; 512 - tested-inconclusive; 1073741824 - other">
##INFO=<ID=RS,Number=.,Type=String,Description="dbSNP ID (i.e. rs number)">
##INFO=<ID=SSR,Number=1,Type=Integer,Description="Variant Suspect Reason Codes. One or more of the following values may be added: 0 - unspecified, 1 - Paralog, 2 - byEST, 4 - oldAlign, 8 - Para_EST, 16 - 1kg_failed, 1024 - other">
#CHROM POS ID REF ALT QUAL FILTER INFO
18 673443 375663 TTTAAAG T . . ALLELEID=362508;CLNDISDB=MedGen:CN240592|MedGen:CN240601;CLNDN=capecitabine_response_-_Efficacy|fluorouracil_response_-_Efficacy;CLNHGVS=NC_000018.10:g.673444_673449delTTAAAG;CLNREVSTAT=reviewed_by_expert_panel;CLNSIG=drug_response;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=PharmGKB:981202230;GENEINFO=TYMS:7298|ENOSF1:55556;ORIGIN=1;RS=151264360
18 2656077 499599 T G . . ALLELEID=491023;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656077T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2656090 464163 C A . . ALLELEID=469610;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2656090C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769401596
18 2656112 500900 T G . . ALLELEID=492324;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656112T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751463286
18 2656115 286236 G A . . AF_EXAC=0.00014;AF_TGP=0.0002;ALLELEID=270473;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656115G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=559283578
18 2656129 499632 G C . . ALLELEID=491056;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656129G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779165187
18 2656130 283671 G C . . AF_EXAC=0.00002;ALLELEID=267908;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656130G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748596758
18 2656138 288490 A G . . AF_EXAC=0.00002;ALLELEID=272727;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656138A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772718353
18 2656165 499693 G A . . ALLELEID=491117;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656165G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 2656194 498564 TC T . . ALLELEID=489988;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2656195delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 2656196 499318 G A . . ALLELEID=490742;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656196G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2656205 502408 C A . . ALLELEID=493832;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656205C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2656225 281276 C G . . AF_ESP=0.0007;AF_EXAC=0.00031;AF_TGP=0.0016;ALLELEID=265513;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656225C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=139872818
18 2656237 288796 G T . . AF_EXAC=0.00002;ALLELEID=273033;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656237G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766395572
18 2656249 260632 G C . . ALLELEID=256618;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2656249G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2430853
18 2666214 286192 A G . . AF_EXAC=0.00007;AF_TGP=0.0004;ALLELEID=270429;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666214A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=181045631
18 2666870 252695 A G . . AF_EXAC=0.00027;AF_TGP=0.0004;ALLELEID=247147;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666870A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200521548
18 2666886 285126 T G . . AF_EXAC=0.00021;AF_TGP=0.0008;ALLELEID=269363;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666886T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201466122
18 2666895 260642 C T . . AF_ESP=0.0001;AF_EXAC=0.00009;ALLELEID=256619;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666895C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369550628
18 2666913 282399 G A . . AF_ESP=0.0005;AF_EXAC=0.00022;AF_TGP=0.0004;ALLELEID=266636;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666913G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7229488
18 2666926 290606 C T . . ALLELEID=274843;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666926C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=769766392
18 2666927 431461 T C . . ALLELEID=424974;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2666927T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402737
18 2666928 283112 A G . . AF_EXAC=0.00090;AF_TGP=0.0012;ALLELEID=267349;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666928A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=567120742
18 2666940 497504 G A . . ALLELEID=488928;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2666940G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761171049
18 2666993 431462 T A . . ALLELEID=424975;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2666993T>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402738
18 2667006 260646 T C . . AF_ESP=0.0364;AF_EXAC=0.01566;AF_TGP=0.0318;ALLELEID=256620;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2667006T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7239096
18 2667010 375766 A T . . ALLELEID=362647;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667010A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0013;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057519645
18 2667011 375767 G A . . ALLELEID=362648;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667011G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0014;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057519646
18 2667011 375768 G T . . ALLELEID=362649;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667011G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0015;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057519646
18 2667015 375764 A C . . ALLELEID=362645;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667015A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0011;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=9;RS=1057519643
18 2667017 375765 G A . . ALLELEID=362646;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667017G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0012;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057519644
18 2667022 431463 A C . . ALLELEID=424976;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667022A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1135402739
18 2667030 375762 G C . . ALLELEID=362643;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667030G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0009;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057519641
18 2667030 431464 G T . . ALLELEID=424977;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2667030G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1057519641
18 2667032 497570 G A . . ALLELEID=488994;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2667032G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1
18 2667041 260649 C T . . AF_ESP=0.0021;AF_EXAC=0.00068;AF_TGP=0.0020;ALLELEID=256621;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2667041C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201631086
18 2673293 288437 C T . . ALLELEID=272674;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2673293C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043899
18 2673329 290028 G A . . AF_EXAC=0.00002;ALLELEID=274265;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2673329G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=531460906
18 2673351 498539 A G . . ALLELEID=489963;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2673351A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2674018 431465 T G . . ALLELEID=424978;CLNDISDB=Human_Phenotype_Ontology:HP:0000028,MedGen:C0010417,OMIM:219050|Human_Phenotype_Ontology:HP:0003196,MedGen:C1854114|Human_Phenotype_Ontology:HP:0030260,MedGen:C0240701|MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Cryptorchidism|Short_nose|Microphallus|Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2674018T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402740
18 2688480 431466 C G . . ALLELEID=424979;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2688480C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1135402741
18 2688514 498073 TAA T . . ALLELEID=489497;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2688518_2688519delAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2688632 373806 T C . . ALLELEID=360485;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2688632T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057518622
18 2688663 284881 C T . . AF_ESP=0.0004;AF_EXAC=0.00027;AF_TGP=0.0006;ALLELEID=269118;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2688663C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374899324
18 2688720 288873 A G . . ALLELEID=273110;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2688720A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044033
18 2688722 280776 A G . . ALLELEID=264901;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2688722A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886041921
18 2688754 284832 T C . . AF_ESP=0.0096;AF_EXAC=0.00458;AF_TGP=0.0104;ALLELEID=269069;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2688754T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114242799
18 2694573 498932 A G . . ALLELEID=490356;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694573A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755508169
18 2694578 497164 C G . . ALLELEID=488588;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694578C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=569470518
18 2694606 498344 G C . . ALLELEID=489768;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694606G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=745495716
18 2694638 284808 C A . . AF_ESP=0.0005;AF_EXAC=0.00020;AF_TGP=0.0008;ALLELEID=269045;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694638C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145233420
18 2694647 290145 A G . . AF_EXAC=0.00001;ALLELEID=274382;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694647A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748848954
18 2694683 280772 C T . . ALLELEID=264720;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2694683C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001587|nonsense;ORIGIN=1;RS=886041918
18 2694684 285999 G A . . AF_ESP=0.0002;AF_EXAC=0.00005;ALLELEID=270236;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694684G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370983669
18 2694687 375760 A G . . ALLELEID=362641;CLNDISDB=Human_Phenotype_Ontology:HP:0000458,MedGen:C0003126,OMIM:301700|MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Anosmia|Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2694687A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0007;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=17;RS=1057519639
18 2694692 287026 G A . . AF_EXAC=0.00003;ALLELEID=271263;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2694692G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776944618
18 2694694 464158 G A . . ALLELEID=468787;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2694694G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1
18 2697034 375761 A G . . ALLELEID=362642;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2697034A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0008;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=33;RS=1057519640
18 2697077 281277 A G . . AF_ESP=0.0003;AF_EXAC=0.00015;ALLELEID=265514;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697077A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201408220
18 2697837 285957 A G . . AF_EXAC=0.00001;ALLELEID=270194;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697837A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752031550
18 2697863 285451 G A . . AF_EXAC=0.00008;ALLELEID=269688;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697863G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778279069
18 2697885 288633 C A . . AF_ESP=0.0001;AF_EXAC=0.00002;ALLELEID=272870;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697885C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377471712
18 2697890 290921 C T . . AF_EXAC=0.00004;AF_TGP=0.0002;ALLELEID=275158;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697890C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=535674229
18 2697896 498376 G T . . ALLELEID=489800;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697896G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2697898 375763 A T . . ALLELEID=362644;CLNDISDB=Human_Phenotype_Ontology:HP:0000458,MedGen:C0003126,OMIM:301700|Human_Phenotype_Ontology:HP:0003196,MedGen:C1854114|MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Anosmia|Short_nose|Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2697898A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0010;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=9;RS=1057519642
18 2697901 464162 C T . . ALLELEID=468797;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2697901C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2697958 431467 A T . . ALLELEID=424980;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2697958A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=32;RS=1135402742
18 2697984 291312 TATC T . . ALLELEID=275547;CLNDISDB=Human_Phenotype_Ontology:HP:0008970,MedGen:C0410192,OMIM:600416,SNOMED_CT:240074006;CLNDN=Scapulohumeral_muscular_dystrophy;CLNHGVS=NC_000018.10:g.2697988_2697990delATC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;ORIGIN=0;RS=886044914
18 2697989 285176 T C . . AF_EXAC=0.00008;ALLELEID=269413;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2697989T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376328601
18 2697997 39855 TATATG T . . ALLELEID=48454;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2698001_2698005delTGATA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:614982.0001;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=387907319
18 2700586 283749 G T . . AF_EXAC=0.00003;ALLELEID=267986;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2700586G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=752328609
18 2700613 431468 G C . . ALLELEID=424981;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2700613G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402743
18 2700615 260629 A G . . AF_ESP=0.0032;AF_EXAC=0.00402;AF_TGP=0.0018;ALLELEID=256622;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2700615A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=117771893
18 2700616 285716 TG T . . ALLELEID=269953;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2700617delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886043188
18 2700750 498276 T C . . ALLELEID=489700;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2700750T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755868793
18 2700756 286233 TAAG T . . ALLELEID=270470;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2700761_2700763delAGA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;ORIGIN=1;RS=886043345
18 2700837 497503 C G . . ALLELEID=488927;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2700837C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2700839 431469 C A . . ALLELEID=424982;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2700839C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402744
18 2700842 431470 A G . . ALLELEID=424983;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135;CLNDN=Arhinia_choanal_atresia_microphthalmia;CLNHGVS=NC_000018.10:g.2700842A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0;RS=1135402745
18 2700851 88705 C T . . ALLELEID=94288;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2700851C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0006;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397518422
18 2700876 39857 GA G . . ALLELEID=48456;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2700879delA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:614982.0003;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519614
18 2700879 260630 A G . . AF_ESP=0.0003;AF_EXAC=0.00013;AF_TGP=0.0004;ALLELEID=256623;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2700879A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=72862973
18 2703699 282418 G A . . ALLELEID=266655;CLNDISDB=MedGen:C1863878,OMIM:603457,Orphanet:ORPHA1135|MedGen:CN169374;CLNDN=Arhinia_choanal_atresia_microphthalmia|not_specified;CLNHGVS=NC_000018.10:g.2703699G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042392
18 2703733 260631 G A . . AF_ESP=0.0064;AF_EXAC=0.00174;AF_TGP=0.0068;ALLELEID=256624;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2703733G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=78073508
18 2703812 286412 TC AA . . ALLELEID=270649;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2703812_2703813delTCinsAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043386
18 2703845 290646 G T . . ALLELEID=274883;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2703845G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044519
18 2703854 283959 T A . . ALLELEID=268196;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2703854T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042753
18 2705683 288843 CTAAA C . . ALLELEID=273080;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2705686_2705689delAATA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886044024
18 2705693 285586 G A . . ALLELEID=269823;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2705693G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886043146
18 2705702 260633 A G . . ALLELEID=256625;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2705702A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=635132
18 2705718 282155 C A . . ALLELEID=266392;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2705718C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042326
18 2705756 286616 C T . . AF_EXAC=0.00002;ALLELEID=270853;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2705756C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=770290837
18 2705783 500356 A G . . ALLELEID=491780;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2705783A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=930570856
18 2705814 260634 C T . . AF_ESP=0.0021;AF_EXAC=0.00264;AF_TGP=0.0026;ALLELEID=256626;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2705814C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=145755468
18 2706361 260635 C T . . AF_ESP=0.0006;AF_EXAC=0.00182;AF_TGP=0.0006;ALLELEID=256627;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2706361C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201069969
18 2706403 501486 A G . . ALLELEID=492910;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2706403A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=529127480
18 2706432 502382 G A . . ALLELEID=493806;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2706432G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=766575963
18 2706490 260636 G T . . AF_ESP=0.0002;AF_EXAC=0.00137;AF_TGP=0.0002;ALLELEID=256628;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2706490G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368528253
18 2707567 39856 C T . . ALLELEID=48455;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2707567C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:614982.0002|UniProtKB_(protein):A6NHR9#VAR_069070;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=397514623
18 2707621 260637 G A . . ALLELEID=256629;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2707621G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):A6NHR9#VAR_042959;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2276092
18 2707640 501782 C CT . . ALLELEID=493206;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2707641delTinsTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 2707800 260638 C T . . AF_ESP=0.0034;AF_EXAC=0.00575;AF_TGP=0.0020;ALLELEID=256630;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2707800C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=113524119
18 2707802 498268 C T . . ALLELEID=489692;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2707802C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=184984483
18 2707811 498203 G A . . ALLELEID=489627;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2707811G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372945746
18 2707812 285292 T C . . AF_ESP=0.0005;AF_EXAC=0.00015;AF_TGP=0.0008;ALLELEID=269529;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2707812T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=112500113
18 2718136 286023 G GTTTCTTT . . ALLELEID=270260;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718145_2718151dupTTCTTTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886043282
18 2718180 498375 T C . . ALLELEID=489799;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718180T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773520979
18 2718186 497517 G A . . ALLELEID=488941;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718186G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=58683258
18 2718235 290146 G A . . ALLELEID=274383;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718235G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044357
18 2718400 498570 A C . . ALLELEID=489994;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718400A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374039360
18 2718437 498334 A C . . ALLELEID=489758;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2718437A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2722567 282453 G A . . AF_EXAC=0.00001;ALLELEID=266690;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2722567G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762661772
18 2722637 499004 T C . . ALLELEID=490428;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2722637T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 2724884 260639 AT A . . ALLELEID=256631;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2724892delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142973168
18 2724907 287185 C A . . AF_ESP=0.0002;AF_EXAC=0.00005;ALLELEID=271422;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2724907C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372975122
18 2724932 283266 A C . . ALLELEID=267503;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2724932A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):A6NHR9#VAR_042960;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=633422
18 2724932 260640 A T . . AF_ESP=0.3288;AF_EXAC=0.41799;AF_TGP=0.2063;ALLELEID=256632;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2724932A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):A6NHR9#VAR_042960;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=633422
18 2724955 464164 G C . . ALLELEID=469614;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2724955G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2726437 499289 G GT . . ALLELEID=490713;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2726444delTinsTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2726437 290643 GT G . . ALLELEID=274880;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2726444delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886044517
18 2726482 464165 T A . . ALLELEID=468798;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2726482T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770371694
18 2728501 498351 G A . . ALLELEID=489775;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2728501G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779974698
18 2728521 498204 T C . . ALLELEID=489628;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2728521T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375251871
18 2728561 260641 A G . . AF_ESP=0.0349;AF_EXAC=0.00946;AF_TGP=0.0308;ALLELEID=256633;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2728561A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):A6NHR9#VAR_051365;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=9961682
18 2728602 284492 C G . . AF_ESP=0.0014;AF_EXAC=0.00035;AF_TGP=0.0016;ALLELEID=268729;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2728602C>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=186678728
18 2729267 285410 T C . . ALLELEID=269647;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2729267T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886043095
18 2729408 289638 C T . . ALLELEID=273875;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2729408C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=528154864
18 2732425 286021 T C . . AF_EXAC=0.00019;AF_TGP=0.0002;ALLELEID=270258;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2732425T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113434340
18 2732450 285698 AAG A . . ALLELEID=269935;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2732454_2732455delGA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886043182
18 2732461 283238 A G . . AF_EXAC=0.00001;ALLELEID=267475;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2732461A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756368420
18 2732467 282663 C T . . AF_ESP=0.0002;AF_EXAC=0.00008;ALLELEID=266900;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2732467C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371392245
18 2732476 532809 T C . . ALLELEID=532161;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2732476T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=930009782
18 2732488 500665 TTAAAG T . . ALLELEID=492089;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2732492_2732496delAGTAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;ORIGIN=1
18 2738392 285739 C T . . AF_EXAC=0.00005;AF_TGP=0.0002;ALLELEID=269976;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738392C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=542259388
18 2738432 282201 G C . . ALLELEID=266438;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738432G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042340
18 2738460 286463 G A . . AF_EXAC=0.00015;ALLELEID=270700;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738460G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=778206654
18 2738501 285740 A G . . ALLELEID=269977;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738501A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747331582
18 2738534 500396 G A . . ALLELEID=491820;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738534G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778892054
18 2738555 497588 C A . . ALLELEID=489012;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2738555C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2739450 196033 T A . . AF_ESP=0.0014;AF_EXAC=0.00111;AF_TGP=0.0010;ALLELEID=193194;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2739450T>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76290319
18 2739490 532808 C T . . ALLELEID=532172;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2739490C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001587|nonsense;ORIGIN=1
18 2739527 289088 A G . . ALLELEID=273325;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2739527A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886044081
18 2740707 500657 A G . . ALLELEID=492081;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740707A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=536643888
18 2740715 282095 C T . . AF_EXAC=0.00033;AF_TGP=0.0002;ALLELEID=266332;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740715C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=553452960
18 2740715 282094 CA TG . . ALLELEID=266331;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740715_2740716delCAinsTG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042310
18 2740716 260643 A G . . AF_ESP=0.2770;AF_EXAC=0.33817;AF_TGP=0.3862;ALLELEID=256634;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740716A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=12327477
18 2740794 288886 T C . . AF_EXAC=0.00002;AF_TGP=0.0002;ALLELEID=273123;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740794T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=539377223
18 2740800 260644 A T . . AF_ESP=0.0345;AF_EXAC=0.00946;AF_TGP=0.0308;ALLELEID=256635;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2740800A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=115632137
18 2740827 464166 GCTACTTT G . . ALLELEID=468799;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2740831_2740837delCTTTCTA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2740828 282395 C T . . AF_ESP=0.0004;AF_EXAC=0.00018;AF_TGP=0.0004;ALLELEID=266632;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740828C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200391083
18 2740831 290549 C T . . AF_ESP=0.0002;ALLELEID=274786;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2740831C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=368857612
18 2743747 285807 C CT . . ALLELEID=270044;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2743751dupT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886043218
18 2743760 282005 G C . . ALLELEID=266242;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2743760G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886042282
18 2743763 287178 A G . . AF_ESP=0.0001;AF_EXAC=0.00008;AF_TGP=0.0004;ALLELEID=271415;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2743763A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372008124
18 2743806 446476 G C . . ALLELEID=439932;CLNDISDB=Human_Phenotype_Ontology:HP:0008970,MedGen:C0410192,OMIM:600416,SNOMED_CT:240074006;CLNDN=Scapulohumeral_muscular_dystrophy;CLNHGVS=NC_000018.10:g.2743806G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=0
18 2743842 498348 C T . . ALLELEID=489772;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2743842C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771294371
18 2743845 290164 G C . . ALLELEID=274401;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2743845G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044366
18 2743896 285654 C T . . AF_EXAC=0.00002;ALLELEID=269891;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2743896C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766226383
18 2743929 282530 G A . . ALLELEID=266767;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2743929G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=886042417
18 2747506 260645 T G . . AF_ESP=0.0184;AF_EXAC=0.00535;AF_TGP=0.0204;ALLELEID=256636;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2747506T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79829175
18 2747558 500905 C A . . ALLELEID=492329;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2747558C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2747561 282658 A G . . AF_ESP=0.0003;AF_EXAC=0.00027;AF_TGP=0.0002;ALLELEID=266895;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2747561A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201059575
18 2747588 288675 G T . . AF_EXAC=0.00020;AF_TGP=0.0008;ALLELEID=272912;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2747588G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146798599
18 2747592 285599 A G . . AF_ESP=0.0001;AF_EXAC=0.00026;ALLELEID=269836;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2747592A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201497685
18 2747611 499628 T C . . ALLELEID=491052;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2747611T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=758075470
18 2750086 532804 G A . . ALLELEID=532547;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2750086G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2750335 283673 CTTTTG C . . AF_EXAC=0.00003;ALLELEID=267910;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750343_2750347delTTGTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=760383946
18 2750382 498991 A G . . ALLELEID=490415;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750382A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774156694
18 2750429 497519 C G . . ALLELEID=488943;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750429C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367680898
18 2750443 532807 AC A . . ALLELEID=532179;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2750446del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 2750446 260647 C T . . AF_ESP=0.0003;AF_EXAC=0.00458;AF_TGP=0.0086;ALLELEID=256637;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2750446C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=117794949
18 2750447 289681 G A . . AF_ESP=0.0001;AF_EXAC=0.00006;ALLELEID=273918;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750447G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375198512
18 2750450 532806 C G . . ALLELEID=532170;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2750450C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=942559171
18 2750450 448425 C T . . ALLELEID=442023;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2750450C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=942559171
18 2750451 289350 G A . . AF_EXAC=0.00002;AF_TGP=0.0002;ALLELEID=273587;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750451G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=185137363
18 2750479 260648 A G . . AF_ESP=0.2752;AF_EXAC=0.37818;AF_TGP=0.3860;ALLELEID=256638;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750479A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2304859
18 2750495 498214 G A . . ALLELEID=489638;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750495G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774329481
18 2750495 290326 G T . . AF_EXAC=0.00001;ALLELEID=274563;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2750495G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774329481
18 2751277 282156 G T . . ALLELEID=266393;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2751277G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=886042327
18 2751290 498187 G C . . ALLELEID=489611;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2751290G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369758530
18 2751367 532802 A G . . ALLELEID=532266;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2751367A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=191487554
18 2752480 498374 C CT . . ALLELEID=489798;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2752483delTinsTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2752500 497500 A G . . ALLELEID=488924;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2752500A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764323722
18 2752512 284566 A G . . AF_ESP=0.0001;AF_EXAC=0.00005;ALLELEID=268803;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2752512A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371280641
18 2752526 285960 C T . . AF_ESP=0.0001;ALLELEID=270197;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2752526C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374154803
18 2762162 284278 C T . . ALLELEID=268515;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2762162C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767117563
18 2763622 282858 A AT . . ALLELEID=267095;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763628dupT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886042501
18 2763668 289129 T C . . AF_ESP=0.0001;AF_EXAC=0.00005;ALLELEID=273366;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2763668T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368255259
18 2763669 500526 G T . . ALLELEID=491950;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763669G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770018521
18 2763671 464167 T C . . ALLELEID=467908;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2763671T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2763699 260650 C T . . AF_ESP=0.3965;AF_EXAC=0.37211;AF_TGP=0.2758;ALLELEID=256639;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763699C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=483547
18 2763703 290347 A G . . ALLELEID=274584;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763703A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044429
18 2763765 260651 C T . . AF_EXAC=0.00001;ALLELEID=256640;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763765C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=757300247
18 2763790 290173 G A . . ALLELEID=274410;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2763790G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=886044369
18 2763790 532805 G T . . ALLELEID=532183;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2763790G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=886044369
18 2769712 290550 A G . . ALLELEID=274787;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2769712A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044485
18 2769760 288856 C T . . AF_EXAC=0.00005;ALLELEID=273093;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2769760C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=746646525
18 2769761 497660 G A . . ALLELEID=489084;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2769761G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=770649222
18 2769769 286741 C CT . . ALLELEID=270978;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2769773dupT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886043468
18 2769782 283760 C T . . AF_ESP=0.0026;AF_EXAC=0.00122;AF_TGP=0.0040;ALLELEID=267997;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2769782C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147034750
18 2769801 289343 A G . . AF_EXAC=0.00029;ALLELEID=273580;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2769801A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774077792
18 2769975 284676 AT A . . ALLELEID=268913;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2769983delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=763328487
18 2770020 289767 T TA . . ALLELEID=274004;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2770021dupA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886044257
18 2770036 464168 C G . . ALLELEID=468806;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901|MedGen:CN169374;CLNDN=Facioscapulohumeral_muscular_dystrophy_2|not_specified;CLNHGVS=NC_000018.10:g.2770036C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2770040 290300 T G . . ALLELEID=274537;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2770040T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001587|nonsense;ORIGIN=1;RS=886044419
18 2770054 500233 G A . . ALLELEID=491657;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2770054G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370473143
18 2770057 497157 A G . . ALLELEID=488581;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2770057A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2771518 260652 G T . . ALLELEID=256641;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771518G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=300291
18 2771572 284563 G A . . AF_ESP=0.0002;AF_EXAC=0.00011;AF_TGP=0.0002;ALLELEID=268800;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771572G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368367743
18 2771572 290452 G T . . ALLELEID=274689;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771572G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368367743
18 2771581 289243 TA T . . ALLELEID=273480;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2771586delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886044129
18 2771590 285312 A G . . AF_ESP=0.0007;AF_EXAC=0.00015;AF_TGP=0.0006;ALLELEID=269549;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771590A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201071071
18 2771604 290894 C G . . ALLELEID=275131;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771604C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769986044
18 2771612 288010 A G . . ALLELEID=272247;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2771612A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886043784
18 2772269 285697 T G . . ALLELEID=269934;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2772269T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043181
18 2772323 260653 C T . . AF_EXAC=0.00015;AF_TGP=0.0004;ALLELEID=256642;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2772323C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=151311806
18 2772352 283663 A G . . AF_ESP=0.0002;AF_EXAC=0.00009;AF_TGP=0.0004;ALLELEID=267900;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2772352A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201221497
18 2772372 290302 G T . . ALLELEID=274539;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2772372G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763696893
18 2772375 288738 T C . . AF_EXAC=0.00002;ALLELEID=272975;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2772375T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=751445777
18 2775811 498055 T C . . ALLELEID=489479;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2775811T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 2775849 497561 A G . . ALLELEID=488985;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2775849A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2777850 285182 T C . . AF_ESP=0.0001;ALLELEID=269419;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2777850T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370249291
18 2777855 290153 G A . . ALLELEID=274390;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2777855G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044362
18 2777925 260654 A G . . AF_ESP=0.2575;AF_EXAC=0.34426;AF_TGP=0.3766;ALLELEID=256643;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2777925A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3213926
18 2778170 286727 A G . . ALLELEID=270964;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2778170A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886043464
18 2778194 282501 C G . . ALLELEID=266738;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2778194C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886042412
18 2778219 290152 G A . . ALLELEID=274389;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2778219G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=867875905
18 2778240 500529 G C . . ALLELEID=491953;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2778240G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001575|splice_donor_variant;ORIGIN=1
18 2784499 290915 G A . . ALLELEID=275152;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2784499G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886044586
18 2784527 290273 C T . . ALLELEID=274510;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2784527C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886044408
18 2784548 532810 A C . . ALLELEID=532551;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2784548A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=557482877
18 2784549 500363 A G . . ALLELEID=491787;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2784549A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776598393
18 2795986 285941 A G . . ALLELEID=270178;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2795986A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886043263
18 2796004 532803 T A . . ALLELEID=532553;CLNDISDB=Gene:2490,MedGen:C1834671,OMIM:158901;CLNDN=Facioscapulohumeral_muscular_dystrophy_2;CLNHGVS=NC_000018.10:g.2796004T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374989057
18 2796010 448426 C CA . . ALLELEID=442024;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2796011dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=SMCHD1:23347;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 2796016 290331 A G . . AF_ESP=0.0001;AF_EXAC=0.00006;ALLELEID=274568;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796016A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369084979
18 2796033 288433 C G . . ALLELEID=272670;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796033C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886043895
18 2796115 260656 T G . . AF_ESP=0.0007;AF_EXAC=0.00102;AF_TGP=0.0006;ALLELEID=256644;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796115T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144115061
18 2796116 501179 T C . . ALLELEID=492603;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796116T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1
18 2796119 260655 C G . . AF_ESP=0.0013;AF_EXAC=0.00104;AF_TGP=0.0022;ALLELEID=256645;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796119C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148698681
18 2796415 499194 C G . . ALLELEID=490618;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796415C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1
18 2796422 497813 G C . . ALLELEID=489237;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796422G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755578313
18 2796435 286230 C G . . AF_EXAC=0.00008;ALLELEID=270467;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796435C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=553815732
18 2796451 284458 C T . . ALLELEID=268695;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796451C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042874
18 2796465 282427 G A . . AF_EXAC=0.00002;ALLELEID=266664;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796465G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=776794549
18 2796486 282294 T A . . ALLELEID=266531;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2796486T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886042374
18 2802539 287952 A C . . AF_EXAC=0.00009;AF_TGP=0.0002;ALLELEID=272189;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2802539A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;MC=SO:0001583|missense_variant;ORIGIN=1;RS=959328
18 2802559 448424 A G . . ALLELEID=442025;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2802559A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=SMCHD1:23347;ORIGIN=1;RS=140650738
18 2917013 326541 G A . . ALLELEID=348041;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917013G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:814096;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=751266426
18 2917076 326542 T C . . ALLELEID=348042;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917076T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:99096;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=767074158
18 2917154 326543 T C . . AF_TGP=0.1420;ALLELEID=346756;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917154T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21329;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1164
18 2917225 326546 T A . . AF_TGP=0.2456;ALLELEID=330937;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917225T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21332;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1985
18 2917278 326547 A G . . AF_TGP=0.0072;ALLELEID=348043;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917278A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764851;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=14916
18 2917294 326548 G T . . AF_TGP=0.0004;ALLELEID=330947;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917294G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:604135;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=138807947
18 2917347 326549 C T . . AF_TGP=0.0385;ALLELEID=341219;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917347C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:144001;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=4781
18 2917359 326550 G A . . ALLELEID=346757;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917359G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21341;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=7980
18 2917368 326551 CG C . . AF_TGP=0.0427;ALLELEID=348044;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917369delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:615236;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=148191039
18 2917370 326552 G A . . AF_TGP=0.0427;ALLELEID=346758;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917370G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:202967;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=202079191
18 2917399 326553 T TGAAA . . ALLELEID=341226;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917400_2917403dupGAAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:642030;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=540600202
18 2917427 326554 T G . . ALLELEID=341227;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917427T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:206547;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=17880885
18 2917458 326555 CTG C . . ALLELEID=330954;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917459_2917460delTG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:682278;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053740
18 2917463 326556 G A . . ALLELEID=348045;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917463G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:653544;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053741
18 2917471 326557 G A . . AF_TGP=0.0102;ALLELEID=346759;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917471G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:481751;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=73375246
18 2917506 326558 G C . . ALLELEID=330957;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917506G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:790572;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053742
18 2917534 326559 T G . . ALLELEID=348046;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917534T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:774164;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053743
18 2917569 326560 T C . . ALLELEID=330967;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917569T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:805714;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053744
18 2917596 326561 TTTTTTC T . . ALLELEID=346761;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917597_2917602delTTTTTC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:615238;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=777601819
18 2917800 326562 G C . . AF_TGP=0.1020;ALLELEID=330976;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917800G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62222;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=8091401
18 2917881 326566 G A . . AF_TGP=0.0002;ALLELEID=330982;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917881G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:762344;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=553336397
18 2917903 326570 G A . . AF_TGP=0.0008;ALLELEID=341251;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2917903G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:112971;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=555969171
18 2918052 326571 A G . . AF_TGP=0.0332;ALLELEID=341252;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918052A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:481761;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=16944033
18 2918077 326572 G T . . ALLELEID=346765;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918077G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:562524;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053746
18 2918094 326573 GAA G . . AF_TGP=0.1130;ALLELEID=330983;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918095_2918096delAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497570;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=55834965
18 2918190 326574 C T . . AF_TGP=0.0026;ALLELEID=346766;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918190C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:657996;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=561577089
18 2918217 326575 G T . . AF_TGP=0.0022;ALLELEID=341261;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918217G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:598927;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=112529707
18 2918419 326576 G C . . AF_TGP=0.0012;ALLELEID=341262;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918419G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:81346;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=75771450
18 2918466 326577 C T . . ALLELEID=346767;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918466C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:578462;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053747
18 2918551 326578 T C . . AF_TGP=0.0002;ALLELEID=341276;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918551T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:766239;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=551448975
18 2918602 326579 T C . . AF_TGP=0.0100;ALLELEID=346770;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918602T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764853;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=112588494
18 2918671 326580 A G . . AF_TGP=0.0072;ALLELEID=348047;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918671A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764855;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=111366726
18 2918707 326581 C T . . AF_TGP=0.0042;ALLELEID=346771;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918707C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:710253;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=144299426
18 2918734 326582 T C . . ALLELEID=346774;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918734T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:263310;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053748
18 2918779 326583 C G . . AF_TGP=0.0004;ALLELEID=346776;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918779C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:643467;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=544570644
18 2918779 326584 C T . . ALLELEID=348050;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918779C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:751674;GENEINFO=LPIN2:9663;ORIGIN=1;RS=544570644
18 2918791 326585 C T . . AF_TGP=0.0056;ALLELEID=330984;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918791C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:75162;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=113346639
18 2918831 326586 T C . . AF_TGP=0.0002;ALLELEID=346780;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918831T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:831994;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=560770304
18 2918875 326587 C T . . AF_TGP=0.0016;ALLELEID=346794;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2918875C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:647041;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=552844041
18 2919073 326588 C T . . ALLELEID=330988;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919073C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:813054;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053749
18 2919114 326589 C T . . AF_TGP=0.0046;ALLELEID=346795;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919114C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:69324;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=147362027
18 2919167 326590 C T . . ALLELEID=330992;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919167C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:811113;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053750
18 2919216 326591 G C . . AF_TGP=0.0006;ALLELEID=346802;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919216G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:100768;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=563088438
18 2919241 326592 A G . . AF_TGP=0.0445;ALLELEID=348053;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919241A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62247;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=59566682
18 2919266 326593 C T . . AF_TGP=0.0004;ALLELEID=330994;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919266C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:685012;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=551503883
18 2919267 326594 G A . . AF_TGP=0.0008;ALLELEID=346804;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919267G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:784663;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=529650414
18 2919272 326595 C T . . ALLELEID=348057;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919272C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:281584;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053751
18 2919343 326596 T G . . AF_TGP=0.0487;ALLELEID=348058;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919343T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:102031;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3810065
18 2919345 326597 C CT . . ALLELEID=348059;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919346dupT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:497572;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3840906
18 2919390 326598 A T . . AF_TGP=0.0012;ALLELEID=341277;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919390A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:278386;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=78462116
18 2919396 326599 A C . . ALLELEID=330999;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919396A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:126472;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053752
18 2919459 326600 C T . . ALLELEID=346807;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919459C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:634427;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053753
18 2919460 326601 C T . . AF_TGP=0.0002;ALLELEID=331000;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919460C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:161500;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=540627141
18 2919470 326602 C T . . ALLELEID=341285;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919470C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:819919;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=747730329
18 2919480 326603 T G . . ALLELEID=331005;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919480T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:280408;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=547125074
18 2919488 326604 G C . . AF_TGP=0.0014;ALLELEID=341290;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919488G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:481657;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=146605124
18 2919496 326605 A C . . AF_TGP=0.0106;ALLELEID=346808;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919496A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:261602;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3810064
18 2919497 326606 A G . . AF_TGP=0.0024;ALLELEID=331010;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919497A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:440370;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=567530586
18 2919501 326607 C G . . AF_TGP=0.0002;ALLELEID=346809;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919501C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:161517;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=542453339
18 2919526 326608 T C . . ALLELEID=341296;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919526T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:608301;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053754
18 2919568 326609 C T . . ALLELEID=348060;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919568C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:836915;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053755
18 2919570 326610 T C . . AF_TGP=0.0282;ALLELEID=331012;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919570T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:119016;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=76325993
18 2919589 326611 A AC . . ALLELEID=348061;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919590dupC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:703528;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=200435334
18 2919608 326612 A T . . ALLELEID=331014;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919608A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21344;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=607549
18 2919627 326613 G A . . AF_TGP=0.0004;ALLELEID=331017;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919627G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:649226;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=186189096
18 2919636 326614 T G . . AF_TGP=0.1532;ALLELEID=346813;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919636T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21361;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=16944040
18 2919656 326615 C T . . AF_TGP=0.0074;ALLELEID=341297;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919656C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:101877;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=118142692
18 2919736 326616 C T . . AF_TGP=0.0208;ALLELEID=331018;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919736C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:251267;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=112795993
18 2919786 326617 A G . . ALLELEID=331019;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919786A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:642032;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053756
18 2919787 326618 G A . . ALLELEID=331023;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919787G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:746374;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053757
18 2919792 326619 A G . . AF_TGP=0.0224;ALLELEID=348062;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919792A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21358;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=35176958
18 2919800 326620 C T . . ALLELEID=341299;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919800C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:252529;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053758
18 2919845 326621 G A . . ALLELEID=341300;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919845G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:819489;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053759
18 2919931 326622 A G . . ALLELEID=348065;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919931A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:623661;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053760
18 2919935 326623 C T . . AF_TGP=0.0034;ALLELEID=346817;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2919935C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:115596;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=184193388
18 2920018 326624 G C . . ALLELEID=348070;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920018G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:261604;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053761
18 2920041 326625 C T . . ALLELEID=346820;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920041C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:746543;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053762
18 2920042 326626 G A . . AF_TGP=0.0004;ALLELEID=341303;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920042G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:692525;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=563023966
18 2920076 326627 C A . . ALLELEID=346828;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920076C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:285018;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053763
18 2920135 326628 C T . . AF_TGP=0.0006;ALLELEID=331031;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920135C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:767353;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=547872442
18 2920142 326629 C T . . AF_TGP=0.0006;ALLELEID=331032;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920142C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:767355;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=571000282
18 2920194 326630 G A . . AF_TGP=0.0218;ALLELEID=331038;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920194G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:113854;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=143728428
18 2920209 326631 T C . . ALLELEID=341305;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920209T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:794498;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053764
18 2920290 260433 G A . . AF_ESP=0.2474;AF_EXAC=0.31306;AF_TGP=0.3622;ALLELEID=256646;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920290G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:45594|Illumina_Clinical_Services_Laboratory,Illumina:21364;GENEINFO=LPIN2:9663;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=3745012
18 2920313 326632 C T . . AF_ESP=0.0001;AF_EXAC=0.00032;AF_TGP=0.0004;ALLELEID=331045;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920313C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2),Uncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:164186;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200648652
18 2920327 326633 G A . . AF_ESP=0.0002;AF_EXAC=0.00007;ALLELEID=346831;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920327G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:639455;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147203309
18 2920334 234344 G A . . AF_EXAC=0.00005;AF_TGP=0.0002;ALLELEID=232038;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920334G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001587|nonsense;ORIGIN=1;RS=547662448
18 2920359 234588 C T . . AF_ESP=0.0002;AF_EXAC=0.00053;AF_TGP=0.0014;ALLELEID=232037;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920359C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:295421;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=187572602
18 2920363 234343 C A . . AF_ESP=0.0002;AF_EXAC=0.00147;AF_TGP=0.0018;ALLELEID=232039;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920363C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:161505;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201160155
18 2920363 536350 C T . . ALLELEID=532173;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920363C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201160155
18 2920374 245643 G A . . AF_ESP=0.0002;AF_EXAC=0.00045;AF_TGP=0.0014;ALLELEID=245082;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920374G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145412418
18 2920401 536356 G A . . ALLELEID=532564;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2920401G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=141043192
18 2920416 138138 G A . . AF_ESP=0.0003;AF_EXAC=0.00034;AF_TGP=0.0010;ALLELEID=141841;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920416G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=149862905
18 2920448 245642 G A . . AF_EXAC=0.00003;ALLELEID=245083;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920448G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=776045621
18 2920789 387742 T G . . ALLELEID=376754;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920789T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=186864136
18 2920840 386782 T C . . ALLELEID=376906;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920840T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761194035
18 2920890 138137 G A . . AF_ESP=0.0004;AF_EXAC=0.00033;AF_TGP=0.0004;ALLELEID=141840;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2920890G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=191749331
18 2920895 246269 T C . . AF_EXAC=0.00004;ALLELEID=245084;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2920895T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=749926941
18 2921548 378929 A G . . ALLELEID=378934;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921548A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520415
18 2921566 234342 C G . . ALLELEID=232044;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2921566C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660987
18 2921575 385598 C T . . ALLELEID=375846;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921575C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747097533
18 2921576 234523 G A . . AF_EXAC=0.00002;ALLELEID=232041;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921576G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748431474
18 2921594 418286 A G . . ALLELEID=410333;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921594A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183821298
18 2921604 385657 G A . . ALLELEID=375857;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2921604G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373520277
18 2921656 508924 AAAATAC A . . ALLELEID=507323;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921657_2921662delAAATAC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=770202563
18 2921660 138136 T A . . AF_ESP=0.0002;AF_EXAC=0.00020;ALLELEID=141839;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2921660T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199830303
18 2922033 389793 T C . . ALLELEID=378935;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2922033T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=370048111
18 2922036 138135 C T . . AF_ESP=0.0011;AF_EXAC=0.00085;AF_TGP=0.0016;ALLELEID=141838;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2922036C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=148930095
18 2922038 512397 G A . . ALLELEID=506887;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2922038G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536913334
18 2922038 391787 G T . . ALLELEID=376756;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2922038G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=536913334
18 2922046 21519 C G . . ALLELEID=34371;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2922046C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001575|splice_donor_variant;RS=80338808
18 2922058 138134 G A . . AF_ESP=0.0002;AF_EXAC=0.00026;ALLELEID=141837;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2922058G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145270447
18 2922058 536357 G T . . ALLELEID=532567;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2922058G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=145270447
18 2922137 468456 C T . . ALLELEID=469237;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2922137C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2922150 536351 C T . . ALLELEID=532580;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2922150C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779538504
18 2922151 97815 G A . . AF_ESP=0.0152;AF_EXAC=0.01140;AF_TGP=0.0066;ALLELEID=103707;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2922151G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(3),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:50406|Illumina_Clinical_Services_Laboratory,Illumina:100784;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17555442
18 2922163 326634 G A . . ALLELEID=348072;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2922163G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:463488;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886053765
18 2922173 4908 G A . . AF_EXAC=0.00001;ALLELEID=19947;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN517202;CLNDN=Majeed_syndrome|not_provided;CLNHGVS=NC_000018.10:g.2922173G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:605519.0001|UniProtKB_(protein):Q92539#VAR_023817;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80338807
18 2923765 439865 G A . . ALLELEID=433669;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2923765G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:135476;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=201227858
18 2923778 234341 T C . . AF_ESP=0.0001;AF_EXAC=0.00005;ALLELEID=232040;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2923778T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140915714
18 2923861 468455 C T . . ALLELEID=469627;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2923861C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778440902
18 2923868 246320 A C . . AF_EXAC=0.00006;AF_TGP=0.0002;ALLELEID=245085;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2923868A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199713353
18 2924551 246349 T C . . AF_EXAC=0.00002;ALLELEID=245086;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2924551T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=779830291
18 2925286 378095 G A . . ALLELEID=375858;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2925286G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:77424;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150806357
18 2925295 245641 G A . . AF_ESP=0.0089;AF_EXAC=0.00262;AF_TGP=0.0092;ALLELEID=245087;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2925295G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143090653
18 2925323 326635 G A . . ALLELEID=341307;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2925323G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:832232;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=886053766
18 2925347 378094 C T . . ALLELEID=376909;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2925347C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:154629;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143702044
18 2925348 234340 G A . . AF_EXAC=0.00003;ALLELEID=232042;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2925348G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:113413;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781778980
18 2925350 246270 G T . . ALLELEID=245088;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2925350G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=879254186
18 2925361 138133 C T . . AF_ESP=0.0089;AF_EXAC=0.00790;AF_TGP=0.0052;ALLELEID=141836;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374|MedGen:CN517202;CLNDN=Majeed_syndrome|not_specified|not_provided;CLNHGVS=NC_000018.10:g.2925361C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:50863;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61735393
18 2925362 536359 G A . . ALLELEID=532269;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2925362G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369572309
18 2925365 500052 C T . . ALLELEID=491476;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2925365C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=772568696
18 2925366 326636 G A . . AF_ESP=0.0001;AF_EXAC=0.00003;ALLELEID=346834;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2925366G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:147411|Illumina_Clinical_Services_Laboratory,Illumina:96186;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372850864
18 2925377 138132 C T . . AF_EXAC=0.00001;ALLELEID=141835;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2925377C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587781026
18 2926706 138131 G A . . AF_ESP=0.0003;AF_EXAC=0.00009;AF_TGP=0.0002;ALLELEID=141834;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2926706G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=188429587
18 2926733 326637 C G . . AF_ESP=0.0002;AF_EXAC=0.00009;ALLELEID=348077;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2926733C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:438982;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373929015
18 2926735 234498 G A . . AF_ESP=0.0003;AF_EXAC=0.00011;AF_TGP=0.0006;ALLELEID=232050;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2926735G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139826951
18 2926771 234517 G A . . AF_EXAC=0.00005;ALLELEID=232043;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2926771G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755110304
18 2926781 234339 A G . . AF_ESP=0.0017;AF_EXAC=0.00270;AF_TGP=0.0008;ALLELEID=232045;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2926781A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Likely_benign(3),Uncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:116416|Illumina_Clinical_Services_Laboratory,Illumina:294010;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150022314
18 2926796 373803 A T . . AF_ESP=0.0002;AF_EXAC=0.00003;AF_TGP=0.0002;ALLELEID=360324;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2926796A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148779863
18 2927801 234431 T C . . AF_EXAC=0.00001;ALLELEID=232046;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2927801T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760055156
18 2927829 246139 G C . . AF_ESP=0.0001;ALLELEID=245089;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2927829G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=375819924
18 2928617 489197 G A . . ALLELEID=482170;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2928617G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001587|nonsense;ORIGIN=1
18 2929065 234338 C T . . AF_EXAC=0.00002;ALLELEID=232051;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2929065C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756933588
18 2929101 234337 A G . . AF_ESP=0.0004;AF_EXAC=0.00016;AF_TGP=0.0002;ALLELEID=232047;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2929101A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146424724
18 2929105 97814 G A . . AF_ESP=0.0034;AF_EXAC=0.00265;AF_TGP=0.0020;ALLELEID=103706;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2929105G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(3);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:120228;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104895500
18 2929123 234336 A G . . ALLELEID=232048;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2929123A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660986
18 2929126 234335 C T . . AF_EXAC=0.00040;AF_TGP=0.0008;ALLELEID=232049;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2929126C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201325845
18 2929150 234334 T G . . ALLELEID=232052;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2929150T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660985
18 2931252 326638 G C . . AF_ESP=0.0001;AF_EXAC=0.00007;AF_TGP=0.0002;ALLELEID=348078;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931252G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:705665;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=373685201
18 2931302 138130 G A . . AF_ESP=0.0020;AF_EXAC=0.00055;AF_TGP=0.0020;ALLELEID=141833;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931302G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=35932462
18 2931308 326639 G A . . AF_ESP=0.0001;AF_EXAC=0.00004;ALLELEID=348080;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931308G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:704455;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376147435
18 2931317 326640 G A . . AF_ESP=0.0002;AF_EXAC=0.00008;ALLELEID=348081;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931317G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:806769;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143562359
18 2931337 234333 G C . . AF_EXAC=0.00002;ALLELEID=232062;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931337G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=781705610
18 2931364 279842 C T . . AF_EXAC=0.00005;ALLELEID=264723;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931364C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=771486222
18 2931365 386450 G A . . ALLELEID=376759;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931365G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=773074044
18 2931373 439864 C T . . ALLELEID=433668;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2931373C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:132183;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373758040
18 2931383 468454 G T . . ALLELEID=468811;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931383G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=759651506
18 2931394 41250 CAG C . . ALLELEID=49674;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931395_2931396delAG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=LPIN2:9663;MC=SO:0001589|frameshift_variant;RS=318240736
18 2931397 536353 A G . . ALLELEID=532180;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931397A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2931400 536352 G A . . ALLELEID=532186;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931400G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138079183
18 2931413 513580 G A . . ALLELEID=506521;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931413G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=781673368
18 2931430 536354 C T . . ALLELEID=532270;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2931430C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768189312
18 2931431 392372 G A . . ALLELEID=378936;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931431G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778559792
18 2931438 234332 G A . . AF_EXAC=0.00007;ALLELEID=232053;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2931438G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=772737665
18 2934372 326641 G A . . AF_EXAC=0.00001;ALLELEID=346845;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2934372G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:762346;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=777239535
18 2934416 536349 A C . . ALLELEID=532182;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2934416A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1018736752
18 2934448 326642 C T . . ALLELEID=331047;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2934448C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:765393;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886053767
18 2934453 378093 G A . . ALLELEID=375859;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2934453G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200259086
18 2934456 326643 TA T . . AF_EXAC=0.00691;ALLELEID=331048;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2934457delA;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Likely_benign(2),Uncertain_significance(1);CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:102885|Illumina_Clinical_Services_Laboratory,Illumina:765395;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=746626720
18 2937648 439863 A G . . ALLELEID=433667;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2937648A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:45607;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3826637
18 2937681 326644 C G . . AF_ESP=0.0283;AF_EXAC=0.00748;AF_TGP=0.0314;ALLELEID=341309;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2937681C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:752752;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79439091
18 2937686 326645 G A . . AF_ESP=0.0002;AF_EXAC=0.00038;AF_TGP=0.0002;ALLELEID=348083;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937686G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(2);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:233257;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200130790
18 2937701 97813 T C . . AF_ESP=0.0006;AF_EXAC=0.00433;AF_TGP=0.0068;ALLELEID=103705;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937701T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:55610;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=104895501
18 2937706 449743 G A . . ALLELEID=445948;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2937706G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=754221410
18 2937728 326646 G A . . AF_ESP=0.0001;AF_EXAC=0.00022;ALLELEID=341313;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937728G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:666623;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201678207
18 2937745 234782 G A . . AF_EXAC=0.00001;AF_TGP=0.0002;ALLELEID=232054;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2937745G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201830346
18 2937761 234331 C T . . AF_EXAC=0.00004;AF_TGP=0.0002;ALLELEID=232055;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937761C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:764055;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=540544894
18 2937817 21518 G A . . AF_ESP=0.0005;AF_EXAC=0.00151;AF_TGP=0.0012;ALLELEID=34370;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937817G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=34676691
18 2937849 138129 G A . . AF_ESP=0.0001;AF_EXAC=0.00001;ALLELEID=141832;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2937849G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375422942
18 2937869 21520 C A . . AF_ESP=0.0009;AF_EXAC=0.00114;AF_TGP=0.0016;ALLELEID=34372;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2937869C>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Likely_benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:138498;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=80338805
18 2937890 468460 T A . . ALLELEID=469633;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2937890T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2937901 234843 G A . . AF_ESP=0.0002;AF_EXAC=0.00003;ALLELEID=232063;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2937901G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=150648432
18 2937928 326647 A T . . ALLELEID=331049;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2937928A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:813056;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886053768
18 2939521 234330 G C . . ALLELEID=232056;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2939521G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660984
18 2939584 493225 A G . . ALLELEID=486188;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2939584A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2939614 512650 A AAC . . ALLELEID=506525;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2939615_2939616dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1
18 2940695 234329 G A . . AF_ESP=0.0001;AF_EXAC=0.00431;AF_TGP=0.0084;ALLELEID=232058;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2940695G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:133550;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144555528
18 2951049 326648 T C . . AF_ESP=0.0060;AF_EXAC=0.00162;AF_TGP=0.0064;ALLELEID=348084;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951049T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:770685;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=73375280
18 2951061 468459 G C . . ALLELEID=467909;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951061G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2951063 468458 C T . . ALLELEID=468813;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951063C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 2951085 234328 G A . . ALLELEID=232057;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2951085G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876660983
18 2951103 4909 CAT C . . ALLELEID=19948;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951104_2951105delAT;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:605519.0002;GENEINFO=LPIN2:9663;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=80338806
18 2951105 378092 T G . . ALLELEID=375863;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2951105T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=151135579
18 2951128 536355 C T . . ALLELEID=532589;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951128C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140609636
18 2951129 514066 G A . . ALLELEID=506897;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2951129G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150312425
18 2951144 493226 C G . . ALLELEID=486189;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2951144C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751939691
18 2951199 378091 G A . . ALLELEID=376761;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2951199G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147615538
18 2951257 468457 T C . . ALLELEID=468814;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951257T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=191101701
18 2951292 326649 A G . . AF_ESP=0.0002;AF_EXAC=0.00009;AF_TGP=0.0002;ALLELEID=348090;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2951292A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:654708;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=181542503
18 2951372 245640 G A . . AF_EXAC=0.00009;ALLELEID=245090;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2951372G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=759180126
18 2954586 522215 A G . . ALLELEID=512877;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2954586A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1
18 2954608 514254 G A . . ALLELEID=506535;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2954608G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1
18 2960694 138128 G A . . AF_ESP=0.0072;AF_EXAC=0.00213;AF_TGP=0.0074;ALLELEID=141831;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2960694G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:136381;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=17886056
18 2960705 234327 A AACAC . . ALLELEID=232064;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.2960706_2960709dupACAC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=LPIN2:9663;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876660982
18 2960721 138127 A G . . AF_ESP=0.0020;AF_EXAC=0.00068;AF_TGP=0.0028;ALLELEID=141830;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.2960721A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143261167
18 2960754 536358 C T . . ALLELEID=532185;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.2960754C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 2960785 234326 T C . . AF_ESP=0.0001;AF_EXAC=0.00003;ALLELEID=232059;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2960785T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371299772
18 2960844 507873 T C . . ALLELEID=507326;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.2960844T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LPIN2:9663;ORIGIN=1
18 3011706 326650 A G . . AF_TGP=0.0016;ALLELEID=346848;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.3011706A>G;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:836917;GENEINFO=LPIN2:9663;MC=SO:0001627|intron_variant;ORIGIN=1;RS=566304730
18 3011733 326651 T C . . ALLELEID=341314;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011733T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:557532;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886053769
18 3011744 326652 G C . . AF_TGP=0.0294;ALLELEID=331053;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.3011744G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62652;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=58940048
18 3011745 326653 G C . . AF_TGP=0.0294;ALLELEID=331054;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297|MedGen:CN169374;CLNDN=Majeed_syndrome|not_specified;CLNHGVS=NC_000018.10:g.3011745G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62666;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=59096963
18 3011774 326654 G A . . AF_TGP=0.0084;ALLELEID=331056;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011774G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:726086;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=116643915
18 3011833 326655 C T . . ALLELEID=348091;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011833C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:793675;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886053770
18 3011868 326656 G A . . ALLELEID=346850;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011868G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:283230;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=762246311
18 3011881 326657 T A . . AF_TGP=0.0012;ALLELEID=331060;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011881T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:144013;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=112648131
18 3011900 326658 G A . . ALLELEID=348096;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011900G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:62682;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=765741319
18 3011917 326659 C T . . ALLELEID=346853;CLNDISDB=MedGen:C1864997,OMIM:609628,Orphanet:ORPHA77297;CLNDN=Majeed_syndrome;CLNHGVS=NC_000018.10:g.3011917C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:656383;GENEINFO=LPIN2:9663;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=751000184
18 3067252 229014 G A . . ALLELEID=230804;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3067252G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=876657915
18 3067274 227706 C CT . . ALLELEID=230805;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3067275dupT;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=MYOM1:8736;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=573184538
18 3067280 226828 A G . . ALLELEID=230806;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3067280A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2230164
18 3067301 454458 G A . . ALLELEID=469638;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3067301G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=199980922
18 3067319 227705 C T . . AF_ESP=0.0005;AF_EXAC=0.00048;ALLELEID=230807;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3067319C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376007739
18 3067333 190459 C T . . AF_EXAC=0.00001;ALLELEID=188283;CLNDISDB=MedGen:C0455988,OMIM:236750,Orphanet:ORPHA363999,SNOMED_CT:276509008;CLNDN=Non-immune_hydrops_fetalis;CLNHGVS=NC_000018.10:g.3067333C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751200138
18 3067353 520254 G A . . ALLELEID=510760;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3067353G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749267113
18 3067358 416024 C T . . ALLELEID=403174;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067358C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=774192177
18 3067359 416035 G A . . ALLELEID=402641;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067359G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199531701
18 3067406 525061 G A . . ALLELEID=532189;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067406G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368172542
18 3067412 525089 C T . . ALLELEID=532592;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067412C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=531803971
18 3067417 239578 C T . . AF_ESP=0.0006;AF_EXAC=0.00043;AF_TGP=0.0002;ALLELEID=243036;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067417C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200773357
18 3067490 454457 C T . . ALLELEID=469646;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067490C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 3067493 416041 G A . . ALLELEID=402704;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067493G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=745895344
18 3067505 416033 C T . . ALLELEID=402652;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067505C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763565843
18 3067514 239577 C T . . AF_ESP=0.0001;AF_EXAC=0.00008;ALLELEID=243037;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067514C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=376121702
18 3067520 416037 C T . . ALLELEID=402654;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067520C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=368423483
18 3067521 222746 G A . . AF_ESP=0.0002;AF_EXAC=0.00007;ALLELEID=224526;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067521G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=372260768
18 3067528 524951 C T . . ALLELEID=532197;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3067528C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764839969
18 3067544 227704 G C . . AF_ESP=0.0018;AF_EXAC=0.00159;AF_TGP=0.0006;ALLELEID=230808;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3067544G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1143658
18 3071824 454456 T C . . ALLELEID=468815;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3071824T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=79745437
18 3071858 416044 G A . . ALLELEID=402657;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3071858G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201979586
18 3071880 226827 C T . . AF_ESP=0.0002;AF_EXAC=0.00861;AF_TGP=0.0106;ALLELEID=230809;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3071880C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=117342470
18 3071887 524939 G A . . ALLELEID=532595;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3071887G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373419422
18 3075714 226826 C A . . ALLELEID=230810;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3075714C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=2298539
18 3075738 227703 A G . . AF_EXAC=0.00025;AF_TGP=0.0004;ALLELEID=230811;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3075738A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=187108957
18 3075748 226825 G A . . AF_ESP=0.1604;AF_EXAC=0.21420;AF_TGP=0.1835;ALLELEID=230812;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3075748G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1143657
18 3079170 416034 T A . . ALLELEID=402705;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3079170T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=758050936
18 3079172 227702 T C . . AF_EXAC=0.00018;AF_TGP=0.0002;ALLELEID=230813;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3079172T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=555598943
18 3079241 229027 T C . . ALLELEID=230814;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3079241T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657918
18 3079247 454455 C A . . ALLELEID=469241;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3079247C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1
18 3079259 239576 G A . . AF_EXAC=0.00004;ALLELEID=243038;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3079259G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761317710
18 3079331 410260 A G . . ALLELEID=402709;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3079331A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1060502820
18 3083827 524965 A C . . ALLELEID=532199;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3083827A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367695432
18 3083898 454454 A C . . ALLELEID=469664;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3083898A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=755014620
18 3083991 180449 A T . . AF_EXAC=0.00047;ALLELEID=178723;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3083991A>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880167
18 3084009 226823 A G . . AF_ESP=0.0480;AF_EXAC=0.02947;AF_TGP=0.0577;ALLELEID=230815;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3084009A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047228;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=16944397
18 3084010 229026 T A . . AF_ESP=0.0002;AF_EXAC=0.00013;ALLELEID=230816;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3084010T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=181642354
18 3084016 229023 G C . . ALLELEID=230817;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3084016G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=876657917
18 3085083 410259 C T . . ALLELEID=403176;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3085083C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=776173695
18 3086031 525079 C T . . ALLELEID=532607;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3086031C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=377515296
18 3086067 226822 C T . . AF_ESP=0.0543;AF_EXAC=0.07287;AF_TGP=0.0521;ALLELEID=230818;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3086067C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047227;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3765623
18 3086082 410243 T G . . ALLELEID=402714;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3086082T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=779356078
18 3086108 454453 T C . . ALLELEID=469669;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3086108T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374142554
18 3086112 504856 T C . . ALLELEID=497496;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3086112T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371239754
18 3086141 155823 A G . . AF_ESP=0.0001;AF_EXAC=0.00004;ALLELEID=165575;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3086141A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374491316
18 3086141 440951 A T . . ALLELEID=434665;CLNDISDB=.;CLNDN=MYOM1-related_disorder;CLNHGVS=NC_000018.10:g.3086141A>T;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=16;RS=374491316
18 3089524 226821 G T . . ALLELEID=230819;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3089524G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=948298
18 3089533 239575 T G . . AF_ESP=0.0086;AF_EXAC=0.00247;AF_TGP=0.0072;ALLELEID=243039;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3089533T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=80328493
18 3089561 454452 G A . . ALLELEID=468819;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3089561G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=762476268
18 3090660 220732 T A . . AF_TGP=0.0002;ALLELEID=222748;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3090660T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=575609095
18 3090722 226820 C T . . AF_ESP=0.0100;AF_EXAC=0.00285;AF_TGP=0.0136;ALLELEID=230820;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3090722C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=75748615
18 3090763 525028 C T . . ALLELEID=532187;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3090763C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370699565
18 3094171 504857 G A . . ALLELEID=497568;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3094171G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200808890
18 3094215 416025 G A . . ALLELEID=402723;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3094215G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=187236790
18 3094221 525041 G A . . ALLELEID=532612;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3094221G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=771659817
18 3094238 524963 C T . . ALLELEID=532279;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3094238C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=554969785
18 3094252 525008 C T . . ALLELEID=532280;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3094252C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374656485
18 3100178 222745 G T . . ALLELEID=224527;CLNDISDB=Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790;CLNDN=Cardiac_arrest;CLNHGVS=NC_000018.10:g.3100178G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=869025489
18 3100195 180448 G A . . AF_EXAC=0.00003;ALLELEID=178724;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3100195G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=730880166
18 3100212 416032 G A . . ALLELEID=402658;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3100212G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1060504725
18 3100337 505153 T C . . ALLELEID=497292;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3100337T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=748819463
18 3100363 416028 T C . . ALLELEID=402725;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3100363T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=558779097
18 3100384 525045 A G . . ALLELEID=532615;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3100384A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 3100423 454450 C T . . ALLELEID=468828;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3100423C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=575759850
18 3100431 226819 G A . . AF_ESP=0.3670;AF_EXAC=0.44224;AF_TGP=0.3480;ALLELEID=230821;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3100431G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7232329
18 3102477 416039 T C . . ALLELEID=403177;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3102477T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200480164
18 3102501 229025 C T . . AF_ESP=0.0003;AF_EXAC=0.00024;AF_TGP=0.0004;ALLELEID=230822;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3102501C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147050513
18 3102506 525092 A G . . ALLELEID=532616;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3102506A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 3102510 227701 T C . . AF_ESP=0.0015;AF_EXAC=0.00046;AF_TGP=0.0008;ALLELEID=230823;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3102510T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=188319622
18 3102548 525119 G A . . ALLELEID=532284;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3102548G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374054654
18 3102574 525003 C T . . ALLELEID=532216;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3102574C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764808541
18 3102596 226818 A T . . AF_ESP=0.0056;AF_EXAC=0.00162;AF_TGP=0.0074;ALLELEID=230824;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3102596A>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=143879853
18 3102630 454449 C T . . ALLELEID=468832;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3102630C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375843420
18 3112303 229024 C T . . AF_EXAC=0.00023;AF_TGP=0.0008;ALLELEID=230834;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3112303C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148782330
18 3112304 454448 G A . . ALLELEID=469695;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3112304G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200710899
18 3112328 410258 C A . . ALLELEID=403214;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3112328C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375291963
18 3112391 454447 C T . . ALLELEID=469254;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3112391C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377448983
18 3112408 227700 C T . . AF_ESP=0.0001;AF_EXAC=0.00004;AF_TGP=0.0002;ALLELEID=230835;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3112408C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=186972208
18 3116334 239574 C T . . AF_ESP=0.0001;AF_EXAC=0.00007;ALLELEID=243044;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116334C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373624207
18 3116343 416027 G A . . ALLELEID=403217;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116343G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201092091
18 3116356 229021 G A . . AF_EXAC=0.00004;ALLELEID=230836;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3116356G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=749676865
18 3116390 520256 C T . . ALLELEID=510777;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3116390C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=968079688
18 3116391 416040 C T . . ALLELEID=402682;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116391C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504726
18 3116403 416030 C T . . ALLELEID=402689;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116403C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504724
18 3116411 410253 C T . . ALLELEID=402735;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3116411C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371066861
18 3116427 416043 C T . . ALLELEID=402737;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116427C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=367633441
18 3116439 239573 G C . . AF_ESP=0.0004;AF_EXAC=0.00326;AF_TGP=0.0032;ALLELEID=243045;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3116439G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=185366609
18 3116444 222744 G A . . AF_EXAC=0.00001;ALLELEID=224533;CLNDISDB=EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|MedGen:CN169374;CLNDN=Sudden_cardiac_death|not_specified;CLNHGVS=NC_000018.10:g.3116444G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=755409090
18 3116445 416042 G C . . ALLELEID=403245;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116445G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504727
18 3116451 454446 C T . . ALLELEID=468871;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116451C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374873325
18 3116505 416050 G A . . ALLELEID=402745;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3116505G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=372294428
18 3116509 229020 G A . . AF_EXAC=0.00004;ALLELEID=230837;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3116509G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761951856
18 3119878 454445 C T . . ALLELEID=468873;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119878C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199817096
18 3119890 524938 C A . . ALLELEID=532311;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119890C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001587|nonsense;ORIGIN=1;RS=377512048
18 3119890 454444 C T . . ALLELEID=469259;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119890C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377512048
18 3119903 525121 G A . . ALLELEID=532214;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119903G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=750152279
18 3119924 416038 C T . . ALLELEID=402703;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119924C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=373744359
18 3119949 416053 G A . . ALLELEID=402753;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3119949G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=557671408
18 3119977 525055 T C . . ALLELEID=532312;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119977T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=543434883
18 3119984 454443 C T . . ALLELEID=468875;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3119984C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=754487227
18 3126693 525071 G T . . ALLELEID=532645;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126693G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138916150
18 3126772 454442 C T . . ALLELEID=469700;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126772C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=774931774
18 3126797 454441 A G . . ALLELEID=469262;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126797A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 3126813 226815 A G . . AF_ESP=0.1796;AF_EXAC=0.19973;AF_TGP=0.2544;ALLELEID=230838;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3126813A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047226;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1071600
18 3126815 454440 C T . . ALLELEID=467947;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126815C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=755157204
18 3126817 524992 T C . . ALLELEID=532654;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126817T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=192365952
18 3126841 410257 C A . . ALLELEID=403221;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126841C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=573023709
18 3126844 239572 T C . . AF_ESP=0.0001;AF_EXAC=0.00005;AF_TGP=0.0002;ALLELEID=243046;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3126844T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=184774935
18 3126890 416052 T C . . ALLELEID=403247;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3126890T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=79397275
18 3129274 524942 CCT C . . ALLELEID=532658;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129275_3129276del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1
18 3129299 220589 C T . . AF_ESP=0.0023;AF_TGP=0.0006;ALLELEID=222750;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3129299C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=72860212
18 3129309 410252 T G . . ALLELEID=402755;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3129309T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=760763098
18 3129311 454439 T C . . ALLELEID=469269;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129311T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=200170795
18 3129329 505378 T G . . ALLELEID=497294;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3129329T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=771666952
18 3129353 226814 C G . . AF_ESP=0.0132;AF_EXAC=0.00389;AF_TGP=0.0136;ALLELEID=230839;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3129353C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=115240600
18 3129370 227698 T C . . AF_ESP=0.0008;AF_EXAC=0.00056;ALLELEID=230840;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3129370T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=199900004
18 3129373 410242 G C . . ALLELEID=402706;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129373G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1;RS=764303814
18 3129401 239571 A G . . AF_EXAC=0.00131;AF_TGP=0.0054;ALLELEID=243047;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129401A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=79149418
18 3129419 524958 G C . . ALLELEID=532314;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129419G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1
18 3129428 227697 C T . . AF_EXAC=0.00005;ALLELEID=230841;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3129428C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=778413922
18 3129452 525010 C G . . ALLELEID=532217;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3129452C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1
18 3129532 226813 GACA G . . AF_ESP=0.0185;AF_EXAC=0.00540;AF_TGP=0.0188;ALLELEID=230842;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3129533_3129535delACA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=147985558
18 3131360 505175 G C . . ALLELEID=497711;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3131360G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1
18 3131412 416045 G C . . ALLELEID=403259;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3131412G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370860519
18 3131505 454438 A G . . ALLELEID=467949;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3131505A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=199829674
18 3131509 504811 C T . . ALLELEID=497571;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3131509C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116126674
18 3134646 226812 T A . . AF_ESP=0.0026;AF_EXAC=0.00086;AF_TGP=0.0028;ALLELEID=230843;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3134646T>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(2),Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=73373171
18 3134651 229019 G C . . ALLELEID=230844;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3134651G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201618512
18 3134667 410248 G C . . ALLELEID=403230;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3134667G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773582739
18 3134684 227696 C T . . AF_ESP=0.0003;AF_EXAC=0.00055;AF_TGP=0.0010;ALLELEID=230845;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3134684C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368949465
18 3134710 454437 G T . . ALLELEID=468876;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3134710G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765961982
18 3134710 520253 GCCTCTATGTAGTA AGTG . . ALLELEID=510778;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3134710_3134723delGCCTCTATGTAGTAinsAGTG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=MYOM1:8736;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 3134739 416026 G A . . ALLELEID=403276;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3134739G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=927104464
18 3134813 454436 C G . . ALLELEID=469707;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3134813C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=546357155
18 3134828 226811 A C . . AF_ESP=0.0096;AF_EXAC=0.01006;AF_TGP=0.0060;ALLELEID=230846;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3134828A>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=143030509
18 3135575 239570 C T . . AF_ESP=0.0015;AF_EXAC=0.00073;AF_TGP=0.0008;ALLELEID=243048;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3135575C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=180910875
18 3135577 226810 T C . . AF_ESP=0.0036;AF_EXAC=0.00134;AF_TGP=0.0044;ALLELEID=230847;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3135577T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=115382168
18 3135618 222743 C T . . AF_ESP=0.0002;AF_EXAC=0.00007;AF_TGP=0.0002;ALLELEID=224534;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy;CLNHGVS=NC_000018.10:g.3135618C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=183881662
18 3135619 229018 G A . . AF_ESP=0.0002;AF_EXAC=0.00012;ALLELEID=230848;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3135619G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375858580
18 3135646 226809 C T . . AF_ESP=0.0027;AF_EXAC=0.00578;AF_TGP=0.0024;ALLELEID=230849;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3135646C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149528866
18 3135669 525100 C T . . ALLELEID=532663;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3135669C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767192545
18 3135670 454435 G A . . ALLELEID=469276;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3135670G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757565820
18 3135677 416031 C T . . ALLELEID=403236;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3135677C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1014448013
18 3135692 227695 C T . . AF_ESP=0.0007;AF_EXAC=0.00041;ALLELEID=230850;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3135692C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374462999
18 3135694 227694 T A . . AF_ESP=0.0018;AF_EXAC=0.00271;AF_TGP=0.0018;ALLELEID=230851;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3135694T>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=188677538
18 3141929 525054 A C . . ALLELEID=532317;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3141929A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=972434580
18 3141941 410251 T C . . ALLELEID=403242;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3141941T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200179081
18 3141973 410246 C T . . ALLELEID=402707;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3141973C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373489373
18 3141986 155822 G C . . AF_ESP=0.0011;AF_EXAC=0.00107;AF_TGP=0.0004;ALLELEID=165574;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3141986G>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201104206
18 3141999 410255 C T . . ALLELEID=402760;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3141999C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=998287871
18 3142012 227693 C T . . AF_EXAC=0.00013;AF_TGP=0.0010;ALLELEID=230852;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3142012C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=184721031
18 3142047 227692 G A . . ALLELEID=230853;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3142047G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761762328
18 3142053 454434 C T . . ALLELEID=469279;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3142053C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1
18 3142067 416029 A C . . ALLELEID=402711;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3142067A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1054418598
18 3142077 227691 A G . . AF_ESP=0.0023;AF_EXAC=0.00085;AF_TGP=0.0032;ALLELEID=230854;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3142077A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=200115559
18 3149136 454433 ACTT A . . ALLELEID=469709;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3149137_3149139delCTT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=754148244
18 3149142 180694 T G . . AF_ESP=0.0057;AF_EXAC=0.00386;AF_TGP=0.0096;ALLELEID=178863;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3149142T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=77613865
18 3149155 226807 C T . . AF_ESP=0.0055;AF_EXAC=0.00384;AF_TGP=0.0094;ALLELEID=230855;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3149155C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=36098676
18 3149167 226806 A G . . AF_ESP=0.0026;AF_EXAC=0.00102;AF_TGP=0.0038;ALLELEID=230856;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3149167A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=180916932
18 3151684 226805 A C . . AF_ESP=0.0027;AF_EXAC=0.00104;AF_TGP=0.0038;ALLELEID=230857;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3151684A>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=116743447
18 3151724 454432 G C . . ALLELEID=469710;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151724G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200153557
18 3151734 226804 G A . . AF_ESP=0.0014;AF_EXAC=0.00030;AF_TGP=0.0002;ALLELEID=230858;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3151734G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371861150
18 3151738 226803 T A . . AF_ESP=0.0154;AF_EXAC=0.00496;AF_TGP=0.0202;ALLELEID=230859;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3151738T>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047225;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=9807556
18 3151740 416048 G A . . ALLELEID=402712;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151740G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370022510
18 3151790 410231 G A . . ALLELEID=403279;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151790G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001587|nonsense;ORIGIN=1;RS=765191680
18 3151801 454431 G A . . ALLELEID=469712;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151801G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=185573271
18 3151804 410244 C A . . AF_ESP=0.0005;AF_TGP=0.0008;ALLELEID=403281;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151804C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200374196
18 3151804 180447 C T . . AF_EXAC=0.00015;ALLELEID=178728;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151804C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200374196
18 3151812 410245 G T . . ALLELEID=403246;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3151812G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=780564541
18 3151868 229017 AC A . . ALLELEID=230860;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3151869delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876657916
18 3154978 454430 C T . . ALLELEID=469316;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3154978C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374025340
18 3154984 525064 C T . . ALLELEID=532236;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3154984C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367903122
18 3164313 229016 T C . . AF_ESP=0.0002;AF_EXAC=0.00011;ALLELEID=230875;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3164313T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=369422118
18 3164324 226802 C G . . AF_ESP=0.0026;AF_EXAC=0.00110;AF_TGP=0.0030;ALLELEID=230874;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3164324C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=193006519
18 3164337 239568 G C . . AF_ESP=0.0001;ALLELEID=243049;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164337G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=370177143
18 3164341 454429 A G . . ALLELEID=469317;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164341A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=763945524
18 3164382 525127 G A . . ALLELEID=532344;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164382G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=561012778
18 3164387 226800 C T . . AF_ESP=0.2218;AF_EXAC=0.21558;AF_TGP=0.1687;ALLELEID=230876;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3164387C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11659820
18 3164409 524988 T C . . ALLELEID=532349;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164409T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=757169901
18 3164417 239566 T C . . AF_EXAC=0.00001;ALLELEID=243050;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164417T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=778965112
18 3164421 410254 G A . . ALLELEID=402724;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164421G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=368424215
18 3164443 239565 G T . . AF_EXAC=0.00035;AF_TGP=0.0004;ALLELEID=243051;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3164443G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=534659625
18 3164452 227690 TA T . . AF_EXAC=0.00241;ALLELEID=230877;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3164453delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=554705715
18 3168816 229013 C CCGTTTCTGTACCACTGGATCTCTGGCTGGAAATGTTTAATTTCAGGAGTGATGACAACACGACAGCCTAGACTCATTGTCTCTCCCTCTCTCCCAAAAGACACATCAAATTTGTCATCAAAGTGGATCTCAAACCGGGATGCATAACCATATGGGGTCACACCAACGTTTCTGTACCACTGGATCTCTGGCTGGAAATGTTTAATTTCAGGAGTGATGACAACACGACAGCCTAGACTCATTGTCTCTCCCTCTCTCCCAAAAGACACATCAAATTTGTCATCAAAGTGGATCTCAAACCGGGATGCATAACCATATGGGGTCACACCAA . . ALLELEID=231428;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3168817_3168981dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=copy_number_gain;CLNVCSO=SO:0001742;GENEINFO=MYOM1:8736;ORIGIN=1
18 3168818 226799 G A . . AF_ESP=0.2792;AF_EXAC=0.26202;AF_TGP=0.2822;ALLELEID=230878;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3168818G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2230167
18 3168868 454428 T C . . ALLELEID=467971;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3168868T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=764996297
18 3168877 454427 G A . . ALLELEID=467976;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3168877G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=376648139
18 3168921 229015 T C . . AF_EXAC=0.00001;ALLELEID=230879;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3168921T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=767444514
18 3168985 525106 G T . . ALLELEID=532718;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3168985G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1
18 3173952 416047 G A . . ALLELEID=402794;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3173952G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=189973743
18 3173966 226798 G A . . AF_ESP=0.3395;AF_EXAC=0.30103;AF_TGP=0.3161;ALLELEID=230880;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3173966G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2230163
18 3173987 416023 C T . . ALLELEID=403260;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3173987C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504723
18 3174004 454425 G A . . ALLELEID=468917;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3174004G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=138604278
18 3174011 226797 A G . . AF_ESP=0.0001;AF_EXAC=0.00365;AF_TGP=0.0074;ALLELEID=230881;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3174011A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=59555146
18 3174145 454424 C G . . ALLELEID=468918;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3174145C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=371620091
18 3174164 520260 T C . . ALLELEID=510790;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3174164T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773694035
18 3174169 525069 C T . . ALLELEID=532353;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3174169C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=763462534
18 3174180 410249 G A . . ALLELEID=402796;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3174180G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375848036
18 3174222 227688 C T . . AF_ESP=0.0003;AF_EXAC=0.00164;AF_TGP=0.0026;ALLELEID=230882;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3174222C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=372359086
18 3176041 525039 CC TG . . ALLELEID=532252;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3176041_3176042delCCinsTG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=MYOM1:8736;ORIGIN=1
18 3176042 226796 C G . . ALLELEID=230883;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3176042C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047224;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=8099021
18 3176065 226838 C T . . AF_ESP=0.2940;AF_EXAC=0.28611;AF_TGP=0.2732;ALLELEID=230884;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3176065C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2230162
18 3176072 525111 C T . . ALLELEID=532265;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3176072C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199610460
18 3176079 410247 CAAT C . . ALLELEID=402726;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3176080_3176082delAAT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;ORIGIN=1;RS=765548922
18 3176087 525006 T C . . ALLELEID=532253;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3176087T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773366188
18 3187485 226837 G T . . AF_EXAC=0.00080;AF_TGP=0.0002;ALLELEID=230885;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3187485G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=536739408
18 3187489 239582 C G . . AF_ESP=0.0001;AF_EXAC=0.00008;AF_TGP=0.0002;ALLELEID=243052;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3187489C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=199520642
18 3187587 416046 G A . . ALLELEID=403299;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3187587G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201409582
18 3187595 525031 G A . . ALLELEID=532267;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3187595G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1
18 3188780 227707 C T . . AF_ESP=0.0044;AF_EXAC=0.00467;AF_TGP=0.0022;ALLELEID=230886;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3188780C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=139422575
18 3188835 239581 G A . . AF_ESP=0.0018;AF_EXAC=0.00059;AF_TGP=0.0016;ALLELEID=243053;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188835G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=188155898
18 3188859 226834 A G . . AF_ESP=0.0998;AF_TGP=0.0895;ALLELEID=230887;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3188859A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2230166
18 3188871 416051 T C . . ALLELEID=402799;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188871T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1060504728
18 3188874 416054 C T . . ALLELEID=403268;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188874C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=764706590
18 3188875 226832 G A . . AF_ESP=0.0821;AF_EXAC=0.05655;AF_TGP=0.0717;ALLELEID=230888;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3188875G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047223;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2230165
18 3188884 454459 C CTGGATGCCGTGGACTGCT . . ALLELEID=468921;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188885_3188902dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=MYOM1:8736;ORIGIN=1
18 3188902 239580 T C . . AF_EXAC=0.00004;AF_TGP=0.0002;ALLELEID=243054;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188902T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=548278691
18 3188910 239579 T C . . AF_TGP=0.0006;ALLELEID=243055;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188910T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=562448650
18 3188915 525090 ACTGCTTGGATGCCGTGGACTGCTTAGATGCCGTGGT A . . ALLELEID=532354;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188916_3188951del;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;ORIGIN=1
18 3188929 226831 G A . . AF_ESP=0.0006;AF_EXAC=0.00246;AF_TGP=0.0038;ALLELEID=230889;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3188929G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142735495
18 3188947 525076 G A . . ALLELEID=532358;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188947G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=191505313
18 3188965 524967 G A . . ALLELEID=532361;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3188965G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761722591
18 3188978 226830 A G . . AF_ESP=0.3413;AF_EXAC=0.43735;AF_TGP=0.4433;ALLELEID=230890;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3188978A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047222;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1962519
18 3188980 226829 G A . . AF_ESP=0.0047;AF_EXAC=0.00143;AF_TGP=0.0060;ALLELEID=230891;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3188980G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=61735396
18 3189039 229029 TTTAA T . . ALLELEID=230892;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3189040_3189043delTTAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=876657920
18 3189058 226824 G A . . AF_ESP=0.0021;AF_EXAC=0.00059;AF_TGP=0.0026;ALLELEID=230893;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3189058G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=140845661
18 3189094 416036 CACA C . . ALLELEID=403270;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3189095_3189097delACA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=770159154
18 3193813 410256 C G . . ALLELEID=403300;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3193813C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=772009177
18 3193840 525017 T G . . ALLELEID=532271;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3193840T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=765511668
18 3193854 525022 A C . . ALLELEID=532273;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3193854A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1
18 3193862 454451 T C . . ALLELEID=468923;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3193862T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=370293379
18 3193914 229022 A C . . ALLELEID=230894;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3193914A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=868781965
18 3193934 410250 T G . . ALLELEID=402728;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3193934T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=991834729
18 3193952 227699 T C . . AF_ESP=0.0001;ALLELEID=230895;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3193952T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=369402806
18 3214920 226816 G C . . AF_ESP=0.2908;AF_EXAC=0.28570;AF_TGP=0.2861;ALLELEID=230896;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3214920G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7232679
18 3214934 226817 C A . . AF_EXAC=0.00213;AF_TGP=0.0022;ALLELEID=230897;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3214934C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=568600892
18 3214943 524956 G C . . ALLELEID=532363;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3214943G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=761148558
18 3214961 524977 G A . . ALLELEID=532375;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3214961G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=758070531
18 3214973 520249 C G . . ALLELEID=510791;CLNDISDB=MedGen:CN230736;CLNDN=Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3214973C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=756788476
18 3215032 226808 C A . . AF_ESP=0.0760;AF_EXAC=0.06536;AF_TGP=0.0731;ALLELEID=230898;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215032C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=9964300
18 3215040 410261 G A . . ALLELEID=402800;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215040G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=766972653
18 3215049 239569 C T . . ALLELEID=243056;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215049C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=878854614
18 3215066 505876 G A . . ALLELEID=497572;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215066G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=747035411
18 3215082 524946 T A . . ALLELEID=532376;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215082T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1
18 3215085 226801 T C . . AF_ESP=0.0020;AF_EXAC=0.00538;AF_TGP=0.0026;ALLELEID=230899;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215085T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202145133
18 3215088 239567 A G . . AF_ESP=0.0003;AF_EXAC=0.00009;AF_TGP=0.0002;ALLELEID=243057;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215088A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201544310
18 3215104 227689 G C . . ALLELEID=230900;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3215104G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876657535
18 3215107 454426 G A . . ALLELEID=469743;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3215107G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375113650
18 3215114 239564 G A . . AF_ESP=0.0002;AF_EXAC=0.00014;ALLELEID=243058;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215114G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=375155656
18 3215131 227708 C T . . ALLELEID=230901;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374;CLNDN=Hypertrophic_cardiomyopathy|not_specified;CLNHGVS=NC_000018.10:g.3215131C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=876657536
18 3215133 226836 G T . . AF_ESP=0.0092;AF_EXAC=0.01732;AF_TGP=0.0138;ALLELEID=230902;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736;CLNDN=Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215133G>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76382984
18 3215158 226835 C G . . AF_ESP=0.0970;AF_EXAC=0.10661;AF_TGP=0.1290;ALLELEID=230903;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215158C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1662316
18 3215158 242404 CAC GAG . . ALLELEID=230906;CLNHGVS=NC_000018.10:g.3215158_3215160delCACinsGAG;CLNREVSTAT=no_interpretation_for_the_single_variant;CLNVC=Indel;CLNVCSO=SO:1000032;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=386800438;CLNDISDBINCL=MedGen:CN169374;CLNDNINCL=not_specified;CLNSIGINCL=229030:Uncertain_significance
18 3215159 242405 A C . . AF_EXAC=0.00013;ALLELEID=230904;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215159A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113162857;CLNDISDBINCL=MedGen:CN169374;CLNDNINCL=not_specified;CLNSIGINCL=229030:Uncertain_significance
18 3215160 226833 C G . . AF_ESP=0.0969;AF_EXAC=0.10697;AF_TGP=0.1280;ALLELEID=230905;CLNDISDB=MedGen:CN169374|MedGen:CN230736;CLNDN=not_specified|Cardiovascular_phenotype;CLNHGVS=NC_000018.10:g.3215160C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):P52179#VAR_047221;GENEINFO=MYOM1:8736;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1791085
18 3215179 416049 G A . . ALLELEID=402738;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNDN=Hypertrophic_cardiomyopathy;CLNHGVS=NC_000018.10:g.3215179G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=150321474
18 3215232 226839 C T . . AF_ESP=0.2422;AF_EXAC=0.30410;AF_TGP=0.3357;ALLELEID=230907;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3215232C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=MYOM1:8736;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=1662315
18 3450452 388458 A G . . ALLELEID=376956;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3450452A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1057523111
18 3450457 259013 C A . . AF_ESP=0.2565;AF_EXAC=0.21584;AF_TGP=0.2840;ALLELEID=256652;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3450457C>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:841802;GENEINFO=TGIF1:7050;MC=SO:0001623|5_prime_UTR_variant,SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;ORIGIN=1;RS=238132
18 3452069 252791 G A . . AF_ESP=0.0002;AF_EXAC=0.00033;AF_TGP=0.0002;ALLELEID=247151;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3452069G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001587|nonsense,SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;ORIGIN=1;RS=202123354
18 3452156 6983 C G . . AF_ESP=0.0001;ALLELEID=22022;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3452156C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0005;GENEINFO=TGIF1:7050;MC=SO:0001587|nonsense,SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;ORIGIN=1;RS=121909070
18 3452224 403532 CT C . . ALLELEID=390317;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3452225delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=TGIF1:7050;MC=SO:0001589|frameshift_variant,SO:0001627|intron_variant;ORIGIN=1;RS=11571510
18 3452350 65496 C T . . ALLELEID=76404;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3452350C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant,SO:0001627|intron_variant,SO:0001636|2KB_upstream_variant;RS=397515501
18 3456420 6979 C G . . AF_EXAC=0.00002;ALLELEID=22018;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3456420C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0001|UniProtKB_(protein):Q15583#VAR_009961;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909066
18 3456460 259014 C T . . AF_ESP=0.0013;AF_EXAC=0.00160;AF_TGP=0.0002;ALLELEID=256653;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3456460C>T;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(2),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:842415;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=138292737
18 3456476 424246 G A . . ALLELEID=410365;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3456476G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064796876
18 3456525 6980 C G . . ALLELEID=22019;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3456525C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0002|UniProtKB_(protein):Q15583#VAR_009962;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909067
18 3457389 533431 C T . . ALLELEID=532725;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457389C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1
18 3457390 372529 G A . . ALLELEID=360353;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.3457390G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057517835
18 3457393 449189 G A . . ALLELEID=445965;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3457393G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=921452393
18 3457441 6984 A T . . AF_ESP=0.0002;AF_EXAC=0.00026;ALLELEID=22023;CLNDISDB=MedGen:C1840528,OMIM:142946|MedGen:CN169374;CLNDN=Holoprosencephaly_4|not_specified;CLNHGVS=NC_000018.10:g.3457441A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0006|UniProtKB_(protein):Q15583#VAR_023803;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=28939693
18 3457458 545574 C T . . ALLELEID=536083;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457458C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=8;RS=775078421
18 3457541 259015 A G . . AF_EXAC=0.10716;AF_TGP=0.1915;ALLELEID=256654;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3457541A>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:841805;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229337
18 3457572 6981 A G . . AF_ESP=0.0002;AF_EXAC=0.00018;AF_TGP=0.0004;ALLELEID=22020;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457572A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0003|UniProtKB_(protein):Q15583#VAR_009963;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909068
18 3457606 6982 C T . . AF_EXAC=0.00001;ALLELEID=22021;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457606C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:602630.0004|UniProtKB_(protein):Q15583#VAR_009964;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=121909069
18 3457608 259016 C T . . AF_ESP=0.0570;AF_EXAC=0.06024;AF_TGP=0.0314;ALLELEID=256655;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3457608C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:72557|Illumina_Clinical_Services_Laboratory,Illumina:836919;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4468717
18 3457609 259017 C T . . AF_ESP=0.0442;AF_EXAC=0.06266;AF_TGP=0.0777;ALLELEID=256656;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3457609C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:76008|Illumina_Clinical_Services_Laboratory,Illumina:841808;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2229333
18 3457610 326708 G A . . AF_ESP=0.0141;AF_EXAC=0.00412;AF_TGP=0.0096;ALLELEID=341498;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_sequence|Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457610G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:136393;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229334
18 3457694 326709 G T . . AF_ESP=0.0001;AF_EXAC=0.00028;AF_TGP=0.0004;ALLELEID=348241;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3457694G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:665743;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=142737563
18 3457697 259018 C T . . AF_ESP=0.0461;AF_EXAC=0.01471;AF_TGP=0.0419;ALLELEID=256657;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:C1840528,OMIM:142946|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|Holoprosencephaly_4|not_specified;CLNHGVS=NC_000018.10:g.3457697C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:850459;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229335
18 3457702 65507 T G . . ALLELEID=76415;CLNDISDB=MedGen:C1840528,OMIM:142946;CLNDN=Holoprosencephaly_4;CLNHGVS=NC_000018.10:g.3457702T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;RS=397515503
18 3457778 259019 T G . . AF_ESP=0.0617;AF_EXAC=0.02102;AF_TGP=0.0539;ALLELEID=256658;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:C1840528,OMIM:142946|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|Holoprosencephaly_4|not_specified;CLNHGVS=NC_000018.10:g.3457778T>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:850462;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2229336
18 3457821 440336 A G . . ALLELEID=433972;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.3457821A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=TGIF1:7050;MC=SO:0001583|missense_variant;ORIGIN=1
18 3457844 326710 G A . . AF_ESP=0.0003;AF_EXAC=0.00022;AF_TGP=0.0004;ALLELEID=346976;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001|MedGen:CN169374;CLNDN=Holoprosencephaly_sequence|not_specified;CLNHGVS=NC_000018.10:g.3457844G>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=ARUP_Laboratories,_Molecular_Genetics_and_Genomics:115904|Illumina_Clinical_Services_Laboratory,Illumina:758056;GENEINFO=TGIF1:7050;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=114912664
18 3457898 279908 AC A . . ALLELEID=264727;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.3457899delC;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=TGIF1:7050;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=886041249
18 3457959 326711 A G . . AF_ESP=0.0006;AF_EXAC=0.00041;AF_TGP=0.0006;ALLELEID=331219;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3457959A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:558395;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=145621092
18 3458073 326712 A G . . ALLELEID=346977;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3458073A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:838572;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053783
18 3458204 326713 AT A . . ALLELEID=341507;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3458214delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:842766;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053784
18 3458276 326714 T C . . ALLELEID=346978;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3458276T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:809841;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053785
18 3458347 326715 C G . . AF_TGP=0.0250;ALLELEID=331226;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3458347C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:842768;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=115682894
18 3458373 326716 CT C . . ALLELEID=346981;CLNDISDB=Gene:3244,Human_Phenotype_Ontology:HP:0001360,MedGen:C0079541,Orphanet:ORPHA2162,SNOMED_CT:30915001;CLNDN=Holoprosencephaly_sequence;CLNHGVS=NC_000018.10:g.3458381delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:848930;GENEINFO=TGIF1:7050;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=397858239
18 6942109 522847 GA G . . ALLELEID=513474;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6942110delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Undiagnosed_Diseases_Network,NIH:bb2a0b5f-7f39-4216-b7d0-93c1a7bb4f09_1;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=8
18 6943176 284742 A G . . AF_ESP=0.0034;AF_EXAC=0.00099;AF_TGP=0.0034;ALLELEID=268979;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6943176A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=8091658
18 6943316 523892 C T . . ALLELEID=514745;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6943316C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1
18 6948557 209988 C G . . ALLELEID=206575;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6948557C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001574|splice_acceptor_variant;ORIGIN=1;RS=797045183
18 6949210 498402 C T . . ALLELEID=489826;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6949210C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200996196
18 6950864 435702 C T . . ALLELEID=430079;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6950864C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=548903685
18 6950919 284740 A G . . ALLELEID=268977;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6950919A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886042938
18 6955368 372974 G T . . AF_EXAC=0.00001;ALLELEID=360348;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6955368G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217|LOC101927188:101927188;MC=SO:0001587|nonsense;ORIGIN=1;RS=773457070
18 6956661 517432 A AGCTTGCT . . ALLELEID=497507;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6956662_6956668dup;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Duplication;CLNVCSO=SO:1000035;GENEINFO=LAMA1:284217|LOC101927188:101927188;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 6956751 500447 T C . . ALLELEID=491871;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6956751T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217|LOC101927188:101927188;MC=SO:0001583|missense_variant;ORIGIN=1;RS=149000406
18 6956767 144108 TAGGTAGAAACAAG T . . ALLELEID=153860;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6956768_6956780delAGGTAGAAACAAG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:150320.0002;GENEINFO=LAMA1:284217|LOC101927188:101927188;MC=SO:0001627|intron_variant;ORIGIN=1;RS=587777678
18 6958544 435703 C T . . ALLELEID=430080;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6958544C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=769644598
18 6958571 208764 A G . . ALLELEID=205309;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.6958571A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=797044940
18 6962043 444422 T A . . ALLELEID=438062;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6962043T>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1
18 6971911 500448 A G . . ALLELEID=491872;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6971911A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=146148365
18 6973129 209987 AG A . . ALLELEID=206576;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6973130delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=797045182
18 6977724 209991 C G . . ALLELEID=206577;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.6977724C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=797045184
18 6977772 430114 TG T . . ALLELEID=422229;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6977773delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1131691789
18 6977815 493227 T G . . ALLELEID=486190;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6977815T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142934543
18 6982520 377115 T C . . ALLELEID=363993;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6982520T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=117433399
18 6982599 509716 C T . . ALLELEID=506599;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6982599C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=770273271
18 6985230 445329 T C . . ALLELEID=438601;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6985230T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=144775658
18 6985385 523858 G A . . ALLELEID=514746;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.6985385G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=376548651
18 6997883 380297 G A . . ALLELEID=376042;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.6997883G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1057520816
18 7007219 377158 G A . . ALLELEID=364036;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7007219G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377516549
18 7011328 444423 C T . . ALLELEID=438063;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7011328C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=367987988
18 7012105 521310 G A . . ALLELEID=512371;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.7012105G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=767889331
18 7012111 195826 C T . . AF_EXAC=0.00023;ALLELEID=192987;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.7012111C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=773505947
18 7013922 498403 C T . . ALLELEID=489827;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.7013922C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=201831309
18 7015724 421947 G A . . ALLELEID=410409;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7015724G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=1064795464
18 7016491 284738 G A . . AF_ESP=0.0028;AF_EXAC=0.00091;AF_TGP=0.0028;ALLELEID=268975;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.7016491G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148593258
18 7016493 144109 GT G . . AF_EXAC=0.00003;ALLELEID=153861;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7016494delT;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:150320.0003;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587777679
18 7016662 144110 AAT A . . ALLELEID=153862;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7016663_7016664delAT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:150320.0004;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=587777680
18 7017272 376791 T C . . ALLELEID=363669;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7017272T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=377734734
18 7023190 377253 T C . . ALLELEID=364131;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7023190T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=374593442
18 7023202 522998 C A . . ALLELEID=513654;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7023202C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=4
18 7023208 235727 G A . . AF_ESP=0.0026;AF_EXAC=0.00225;AF_TGP=0.0014;ALLELEID=237407;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7023208G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=144738522
18 7024381 91966 T G . . ALLELEID=97444;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7024381T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001819|synonymous_variant;ORIGIN=2;RS=386352324
18 7025974 430140 C T . . ALLELEID=422231;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7025974C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001627|intron_variant;ORIGIN=1;RS=898673491
18 7026037 523859 G A . . ALLELEID=514747;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7026037G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=374851540
18 7032124 522946 C T . . ALLELEID=513655;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7032124C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=4
18 7034621 377344 C T . . ALLELEID=364222;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7034621C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057520202
18 7035998 194232 C T . . AF_EXAC=0.00003;ALLELEID=191395;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.7035998C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=528185369
18 7037609 522848 C G . . ALLELEID=513475;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7037609C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Undiagnosed_Diseases_Network,NIH:bb2a0b5f-7f39-4216-b7d0-93c1a7bb4f09_2;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=16
18 7040127 435704 G T . . ALLELEID=430092;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.7040127G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1
18 7040224 441028 C G . . ALLELEID=434669;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7040224C>G;CLNREVSTAT=no_assertion_provided;CLNSIG=not_provided;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=0;RS=368665310
18 7042162 419085 TG T . . ALLELEID=410412;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7042163delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=LAMA1:284217;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1064793632
18 7043325 489185 C A . . ALLELEID=482181;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7043325C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1
18 7044806 493228 C G . . ALLELEID=486191;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7044806C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=565276715
18 7049077 209989 C T . . AF_EXAC=0.00002;ALLELEID=206579;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7049077C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=769174266
18 7049182 372401 G A . . ALLELEID=360368;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7049182G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=1057517756
18 7050692 144107 A C . . ALLELEID=153859;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7050692A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:150320.0001;GENEINFO=LAMA1:284217;MC=SO:0001575|splice_donor_variant;ORIGIN=1;RS=587777677
18 7050727 144111 A C . . ALLELEID=153863;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7050727A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:150320.0005;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=587777681
18 7050777 501474 G A . . ALLELEID=492898;CLNDISDB=MedGen:C4014821,OMIM:615960,Orphanet:ORPHA370022;CLNDN=Poretti-Boltshauser_syndrome;CLNHGVS=NC_000018.10:g.7050777G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1;RS=752872595
18 7080025 523891 G A . . ALLELEID=514748;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7080025G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001587|nonsense;ORIGIN=1
18 7080313 521309 C T . . ALLELEID=512372;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.7080313C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1
18 7080338 235519 C T . . AF_ESP=0.0013;AF_EXAC=0.00075;AF_TGP=0.0002;ALLELEID=237200;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.7080338C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=LAMA1:284217;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147676957
18 9102646 327871 G T . . ALLELEID=342444;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102646G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:795966;GENEINFO=NDUFV2:4729;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=886054123
18 9102650 327872 A T . . ALLELEID=349198;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102650A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:281568;GENEINFO=NDUFV2:4729;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=552940397
18 9102661 327873 C T . . AF_TGP=0.0002;ALLELEID=349201;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102661C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:600434;GENEINFO=NDUFV2:4729;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=540830035
18 9102705 327874 G T . . ALLELEID=349203;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102705G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:741609;GENEINFO=NDUFV2:4729;ORIGIN=1;RS=748188888
18 9102714 327875 G T . . AF_ESP=0.0030;AF_EXAC=0.00126;AF_TGP=0.0030;ALLELEID=332306;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102714G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:673067;GENEINFO=NDUFV2:4729;MC=SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=139650842
18 9102731 380625 A G . . ALLELEID=377189;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9102731A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729;ORIGIN=1;RS=369562850
18 9102739 378263 C A . . ALLELEID=376974;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9102739C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729;ORIGIN=1;RS=546451006
18 9102760 327876 C G . . AF_EXAC=0.00032;AF_TGP=0.0002;ALLELEID=347865;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9102760C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:742346;GENEINFO=NDUFV2:4729;MC=SO:0001583|missense_variant;ORIGIN=1;RS=559485096
18 9117869 9054 T C . . ALLELEID=24093;CLNDISDB=MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNDN=Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS=NC_000018.10:g.9117869T>C;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21367|OMIM_Allelic_Variant:600532.0001|UniProtKB_(protein):P19404#VAR_016167;GENEINFO=NDUFV2:4729;MC=SO:0001583|missense_variant;ORIGIN=1;RS=906807
18 9117901 138505 G A . . AF_ESP=0.0037;AF_EXAC=0.00115;AF_TGP=0.0040;ALLELEID=142208;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9117901G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729;MC=SO:0001583|missense_variant;ORIGIN=1;RS=75362221
18 9117903 279920 GGTAA G . . ALLELEID=264825;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.9117908_9117911delGTAA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NDUFV2:4729;MC=SO:0001627|intron_variant;ORIGIN=1;RS=886041255
18 9119407 138506 T A . . AF_ESP=0.0039;AF_EXAC=0.00238;AF_TGP=0.0016;ALLELEID=142209;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9119407T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729;MC=SO:0001627|intron_variant;ORIGIN=1;RS=41274298
18 9119482 392390 G A . . ALLELEID=376977;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9119482G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=761235301
18 9119491 129703 A T . . AF_ESP=0.1298;AF_EXAC=0.08497;AF_TGP=0.0751;ALLELEID=135149;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS=NC_000018.10:g.9119491A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:21381;GENEINFO=NDUFV2:4729;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41274300
18 9122503 327877 A G . . AF_EXAC=0.00012;ALLELEID=347866;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9122503A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:578918;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001627|intron_variant;ORIGIN=1;RS=756241126
18 9122506 214864 AT A . . ALLELEID=211853;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9122510delT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001627|intron_variant;ORIGIN=1;RS=759348789
18 9122536 384983 T A . . ALLELEID=376978;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9122536T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=748301196
18 9122627 327878 C A . . ALLELEID=342445;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9122627C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:818035;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886054124
18 9122640 290426 G A . . ALLELEID=274663;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9122640G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=148158107
18 9122643 445415 ACT A . . ALLELEID=438687;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.9122644_9122645delCT;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=749693247
18 9124914 327879 T C . . AF_EXAC=0.00005;ALLELEID=347868;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS=NC_000018.10:g.9124914T>C;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Likely_benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:741611;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=201074358
18 9124919 214865 T C . . AF_ESP=0.0007;AF_EXAC=0.00019;AF_TGP=0.0004;ALLELEID=211854;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9124919T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=138472116
18 9124950 327880 C T . . AF_ESP=0.0011;AF_EXAC=0.00036;AF_TGP=0.0008;ALLELEID=347869;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9124950C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:747211;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=143576401
18 9124957 214867 A G . . AF_ESP=0.0002;AF_EXAC=0.00007;ALLELEID=211855;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9124957A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=377456305
18 9124973 214866 A G . . AF_ESP=0.0001;AF_EXAC=0.00001;ALLELEID=211856;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.9124973A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=371040282
18 9126811 516390 A G . . ALLELEID=506627;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.9126811A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001627|intron_variant;ORIGIN=1;RS=551027857
18 9126819 138507 T A . . AF_ESP=0.0144;AF_EXAC=0.00596;AF_TGP=0.0202;ALLELEID=142210;CLNDISDB=MedGen:C1838979,OMIM:252010|MedGen:CN169374;CLNDN=Mitochondrial_complex_I_deficiency|not_specified;CLNHGVS=NC_000018.10:g.9126819T>A;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;CLNSIGCONF=Benign(1),Uncertain_significance(1);CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:545664;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001627|intron_variant;ORIGIN=1;RS=114558512
18 9126877 376963 A G . . ALLELEID=363841;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.9126877A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001583|missense_variant;ORIGIN=1;RS=775174756
18 9134356 369253 C G . . AF_TGP=0.0755;ALLELEID=353482;CLNDISDB=MedGen:C1838979,OMIM:252010;CLNDN=Mitochondrial_complex_I_deficiency;CLNHGVS=NC_000018.10:g.9134356C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=NDUFV2:4729|NDUFV2-AS1:101927275;MC=SO:0001634|500B_downstream_variant;ORIGIN=1;RS=12454908
18 9255860 219339 G T . . ALLELEID=221028;CLNDISDB=Human_Phenotype_Ontology:HP:0012125,MedGen:C0376358,OMIM:176807,SNOMED_CT:399068003;CLNDN=Malignant_tumor_of_prostate;CLNHGVS=NC_000018.10:g.9255860G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=ANKRD12:23253;MC=SO:0001583|missense_variant;ORIGIN=2;RS=864622035
18 10455007 3161 T G . . ALLELEID=18200;CLNDISDB=MedGen:C1854310,OMIM:605389,Orphanet:ORPHA55654;CLNDN=Hypotrichosis_simplex;CLNHGVS=NC_000018.10:g.10455007T>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:607479.0001|UniProtKB_(protein):Q8J025#VAR_063497;GENEINFO=APCDD1:147495;MC=SO:0001583|missense_variant;ORIGIN=1;RS=267606659
18 10671540 137628 TCTCTAGTC T . . ALLELEID=141331;CLNDISDB=MedGen:C0220666,OMIM:114300,SNOMED_CT:237850008;CLNDN=Gordon's_syndrome;CLNHGVS=NC_000018.10:g.10671541_10671548delCTCTAGTC;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:613629.0005;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=33;RS=724159993
18 10671571 137634 A G . . ALLELEID=141337;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10671571A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0009|UniProtKB_(protein):Q9H5I5#VAR_071306;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=5;RS=587777454
18 10671577 235838 AT A . . ALLELEID=237492;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10671578delT;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=32;RS=878853135
18 10671602 235839 ATCT A . . ALLELEID=237493;CLNDISDB=Human_Phenotype_Ontology:HP:0005684,MedGen:C0265213,Orphanet:ORPHA97120|MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154|MedGen:CN517202;CLNDN=Distal_arthrogryposis|Oculomelic_amyoplasia|not_provided;CLNHGVS=NC_000018.10:g.10671603_10671605delTCT;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=Centre_for_Mendelian_Genomics,University_Medical_Centre_Ljubljana:CMGVARID00330|OMIM_Allelic_Variant:613629.0002;GENEINFO=PIEZO2:63895;ORIGIN=33;RS=587777077
18 10671633 137631 C A . . ALLELEID=141334;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10671633C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0006|UniProtKB_(protein):Q9H5I5#VAR_071304;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=5;RS=587777452
18 10671633 137632 C G . . ALLELEID=141335;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10671633C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0007|UniProtKB_(protein):Q9H5I5#VAR_071305;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=33;RS=587777452
18 10671729 137629 C T . . ALLELEID=141332;CLNDISDB=MeSH:D030342,MedGen:C0950123|MedGen:C0220666,OMIM:114300,SNOMED_CT:237850008|MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Inborn_genetic_diseases|Gordon's_syndrome|Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10671729C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0003|UniProtKB_(protein):Q9H5I5#VAR_071303;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=33;RS=587777450
18 10671730 137630 G A . . ALLELEID=141333;CLNDISDB=MedGen:C0796033,OMIM:248700,Orphanet:ORPHA2461;CLNDN=Marden-Walker_syndrome;CLNHGVS=NC_000018.10:g.10671730G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0004|UniProtKB_(protein):Q9H5I5#VAR_071302;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=33;RS=587777451
18 10672785 261531 T A . . AF_ESP=0.0105;AF_EXAC=0.01035;AF_TGP=0.0070;ALLELEID=256557;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10672785T>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=34134242
18 10677859 445793 C T . . ALLELEID=439065;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10677859C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=147666072
18 10680239 521668 TG T . . ALLELEID=512342;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.10680240delG;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=745895175
18 10681661 381158 G C . . ALLELEID=376696;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10681661G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=746879076
18 10681687 497761 A C . . ALLELEID=489185;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10681687A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1
18 10681714 261530 C T . . AF_ESP=0.0959;AF_EXAC=0.13013;AF_TGP=0.1156;ALLELEID=256558;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10681714C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9H5I5#VAR_033925;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=3748428
18 10689669 522872 G A . . ALLELEID=513651;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10689669G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=4;RS=757200280
18 10689746 235840 G A . . ALLELEID=237494;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10689746G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=4;RS=878853137
18 10691217 261528 C T . . AF_ESP=0.0364;AF_EXAC=0.00975;AF_TGP=0.0332;ALLELEID=256559;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10691217C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=57838670
18 10691218 261527 G A . . AF_ESP=0.3778;AF_EXAC=0.34781;AF_TGP=0.3143;ALLELEID=256560;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10691218G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=3748422
18 10691359 261526 G A . . AF_ESP=0.2953;AF_EXAC=0.28453;AF_TGP=0.2011;ALLELEID=256561;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10691359G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=3748421
18 10696183 488941 G A . . ALLELEID=482161;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10696183G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001587|nonsense;ORIGIN=1;RS=781461197
18 10696229 261525 C T . . AF_ESP=0.3208;AF_EXAC=0.29075;AF_TGP=0.2193;ALLELEID=256562;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10696229C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=2277860
18 10696257 235841 G A . . ALLELEID=237495;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10696257G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=32;RS=878853138
18 10696263 235842 G A . . ALLELEID=237496;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10696263G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=32;RS=878853139
18 10696476 261524 G A . . AF_ESP=0.0421;AF_EXAC=0.01166;AF_TGP=0.0361;ALLELEID=256563;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10696476G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=16975188
18 10699019 261523 G A . . AF_ESP=0.0208;AF_EXAC=0.00834;AF_TGP=0.0192;ALLELEID=256564;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10699019G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=73945841
18 10699089 261522 C G . . AF_ESP=0.0029;AF_EXAC=0.00455;AF_TGP=0.0168;ALLELEID=256565;CLNDISDB=MedGen:CN169374|MedGen:CN517202;CLNDN=not_specified|not_provided;CLNHGVS=NC_000018.10:g.10699089C>G;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=79992793
18 10699131 261521 G T . . AF_EXAC=0.08485;AF_TGP=0.1002;ALLELEID=256566;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10699131G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=113682091
18 10699132 218790 C T . . ALLELEID=215551;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10699132C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=0;RS=864309619
18 10699144 436313 C G . . ALLELEID=430044;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10699144C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=200276831
18 10704418 440912 C T . . ALLELEID=434540;CLNDISDB=MedGen:C4310692,OMIM:617146|MedGen:CN169374;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch|not_specified;CLNHGVS=NC_000018.10:g.10704418C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001587|nonsense;ORIGIN=5
18 10704450 436312 A T . . ALLELEID=430045;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10704450A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=112982077
18 10704499 261520 G A . . AF_ESP=0.0015;AF_EXAC=0.00046;ALLELEID=256567;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10704499G>A;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=375812718
18 10704621 261519 C G . . AF_ESP=0.2035;AF_EXAC=0.24371;AF_TGP=0.1957;ALLELEID=256568;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10704621C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=4796901
18 10704640 261518 G A . . AF_EXAC=0.00595;AF_TGP=0.0142;ALLELEID=256569;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10704640G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=16975235
18 10705374 374902 CA C . . ALLELEID=361807;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10705375delA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:613629.0014;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519425
18 10705418 521522 C T . . ALLELEID=512343;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.10705418C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=998757704
18 10705438 493229 C T . . ALLELEID=486192;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10705438C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=373973800
18 10705458 261517 G A . . AF_EXAC=0.00040;AF_TGP=0.0008;ALLELEID=256570;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10705458G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=539810112
18 10705737 261516 C A . . ALLELEID=256571;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10705737C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=78023192
18 10705737 261515 C T . . AF_ESP=0.0259;AF_EXAC=0.02996;AF_TGP=0.0130;ALLELEID=256572;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10705737C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=78023192
18 10705746 261514 G A . . AF_EXAC=0.35695;AF_TGP=0.2981;ALLELEID=256573;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10705746G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7227022
18 10714931 489219 C T . . ALLELEID=482162;CLNDISDB=MedGen:C4310692,OMIM:617146|MedGen:CN517202;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch|not_provided;CLNHGVS=NC_000018.10:g.10714931C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Undiagnosed_Diseases_Network,NIH:a0268c53-30e2-46fd-a299-60abace81778_1;GENEINFO=PIEZO2:63895;MC=SO:0001574|splice_acceptor_variant;ORIGIN=17
18 10715678 265869 C G . . ALLELEID=260585;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10715678C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0012;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=886039823
18 10715679 265867 G A . . ALLELEID=260583;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10715679G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0010;GENEINFO=PIEZO2:63895;MC=SO:0001587|nonsense;ORIGIN=1;RS=886039821
18 10718274 261513 C A . . AF_EXAC=0.00040;AF_TGP=0.0018;ALLELEID=256574;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10718274C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=527248198
18 10731392 261512 C G . . AF_ESP=0.0675;AF_EXAC=0.06048;AF_TGP=0.0503;ALLELEID=256575;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10731392C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=78691268
18 10731430 261511 C T . . AF_ESP=0.2260;AF_EXAC=0.23204;AF_TGP=0.1603;ALLELEID=256576;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10731430C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=2865121
18 10731508 423123 G T . . ALLELEID=410313;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10731508G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064796247
18 10736621 265868 G A . . ALLELEID=260584;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10736621G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0011;GENEINFO=PIEZO2:63895;MC=SO:0001587|nonsense;ORIGIN=1;RS=886039822
18 10741013 261510 G A . . ALLELEID=256577;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10741013G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=5024299
18 10748605 261509 A T . . ALLELEID=256578;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10748605A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=8096037
18 10752635 520915 C G . . ALLELEID=512344;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.10752635C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001575|splice_donor_variant;ORIGIN=1
18 10752640 520914 A G . . ALLELEID=512345;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.10752640A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1
18 10752668 261508 C T . . AF_ESP=0.3092;AF_EXAC=0.26542;AF_TGP=0.3319;ALLELEID=256579;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10752668C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=UniProtKB_(protein):Q9H5I5#VAR_071039;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=7234309
18 10752862 235234 G A . . AF_ESP=0.0164;AF_EXAC=0.00533;AF_TGP=0.0136;ALLELEID=236922;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10752862G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=9959296
18 10758025 261507 G A . . ALLELEID=256580;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10758025G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7407105
18 10758044 235373 T C . . ALLELEID=237059;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10758044T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=878853021
18 10758111 521667 CA C . . ALLELEID=512346;CLNDISDB=MeSH:D030342,MedGen:C0950123;CLNDN=Inborn_genetic_diseases;CLNHGVS=NC_000018.10:g.10758112delA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=1
18 10759509 267268 C T . . AF_ESP=0.0053;AF_EXAC=0.00175;AF_TGP=0.0046;ALLELEID=262271;CLNDISDB=MedGen:CN238811;CLNDN=autosomal_recessive_PIEZO2_associated_disease;CLNHGVS=NC_000018.10:g.10759509C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=0;RS=73946020
18 10759842 261506 C A . . AF_ESP=0.1566;AF_EXAC=0.20416;AF_TGP=0.1566;ALLELEID=256581;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10759842C>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=35033671
18 10759908 392642 G T . . ALLELEID=378906;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10759908G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1057524577
18 10760961 423328 T C . . ALLELEID=410314;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10760961T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1032953400
18 10761022 391504 G C . . ALLELEID=376878;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10761022G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=1012685837
18 10761050 430213 T C . . ALLELEID=422212;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10761050T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=192225494
18 10762926 424008 G A . . ALLELEID=410315;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10762926G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=976495862
18 10762939 374904 AGAAGTTCTCAG A . . ALLELEID=361809;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10762940_10762950delGAAGTTCTCAG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;CLNVI=OMIM_Allelic_Variant:613629.0016;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519626
18 10762964 261505 G A . . ALLELEID=256582;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10762964G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7241380
18 10762977 235843 A G . . ALLELEID=237497;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10762977A>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=32;RS=878853140
18 10763009 261504 T C . . ALLELEID=256583;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10763009T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=7227167
18 10773414 265870 G C . . ALLELEID=260586;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10773414G>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0013;GENEINFO=PIEZO2:63895;MC=SO:0001587|nonsense;ORIGIN=1;RS=886039824
18 10773442 444424 C T . . ALLELEID=438064;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10773442C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=564867814
18 10784872 96704 T A . . ALLELEID=102595;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10784872T>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0001|UniProtKB_(protein):Q9H5I5#VAR_070938;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=587777076
18 10787049 261503 G A . . ALLELEID=256584;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10787049G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=6505592
18 10787128 261502 A G . . AF_ESP=0.0508;AF_EXAC=0.05372;AF_TGP=0.0375;ALLELEID=256585;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10787128A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76488076
18 10789114 137633 T C . . ALLELEID=141336;CLNDISDB=MedGen:C1862472,OMIM:108145,Orphanet:ORPHA1154;CLNDN=Oculomelic_amyoplasia;CLNHGVS=NC_000018.10:g.10789114T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:613629.0008|UniProtKB_(protein):Q9H5I5#VAR_071817;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=33;RS=587777453
18 10791216 444425 C T . . ALLELEID=438065;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10791216C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1
18 10794755 261501 G A . . AF_ESP=0.0329;AF_EXAC=0.03145;AF_TGP=0.0172;ALLELEID=256586;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10794755G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=55646160
18 10794832 261500 A G . . AF_ESP=0.0195;AF_EXAC=0.00615;AF_TGP=0.0190;ALLELEID=256587;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10794832A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=11875564
18 10794978 374903 AGC TTCG . . ALLELEID=361808;CLNDISDB=MedGen:C4310692,OMIM:617146;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch;CLNHGVS=NC_000018.10:g.10794978_10794980delAGCinsTTCG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Indel;CLNVCSO=SO:1000032;CLNVI=OMIM_Allelic_Variant:613629.0015;GENEINFO=PIEZO2:63895;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519426
18 10794995 432484 C T . . ALLELEID=426263;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10794995C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1
18 10795003 489220 C T . . ALLELEID=482163;CLNDISDB=MedGen:C4310692,OMIM:617146|MedGen:CN517202;CLNDN=Arthrogryposis,_distal,_with_impaired_proprioception_and_touch|not_provided;CLNHGVS=NC_000018.10:g.10795003C>T;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Undiagnosed_Diseases_Network,NIH:a0268c53-30e2-46fd-a299-60abace81778_2;GENEINFO=PIEZO2:63895;MC=SO:0001574|splice_acceptor_variant;ORIGIN=9
18 10797364 261498 T G . . AF_ESP=0.2305;AF_EXAC=0.25491;AF_TGP=0.2514;ALLELEID=256588;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10797364T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7407224
18 10800454 493230 C G . . ALLELEID=486193;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10800454C>G;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=202104395
18 10801377 261497 A T . . AF_ESP=0.0031;AF_EXAC=0.00108;AF_TGP=0.0024;ALLELEID=256589;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10801377A>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=142251928
18 10801447 261496 G C . . AF_ESP=0.0526;AF_EXAC=0.05603;AF_TGP=0.0381;ALLELEID=256590;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10801447G>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001627|intron_variant;ORIGIN=1;RS=7241307
18 10807169 261495 C T . . AF_ESP=0.0526;AF_EXAC=0.05397;AF_TGP=0.0383;ALLELEID=256591;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10807169C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=61750910
18 10855360 497521 A G . . ALLELEID=488945;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10855360A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=751565062
18 10855553 261529 C T . . AF_ESP=0.0357;AF_EXAC=0.01129;AF_TGP=0.0312;ALLELEID=256592;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10855553C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=8085615
18 10855557 427172 A C . . ALLELEID=415594;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10855557A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=927091191
18 10857099 493231 C A . . ALLELEID=486194;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10857099C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=760374118
18 10911184 503995 A C . . ALLELEID=495689;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.10911184A>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001575|splice_donor_variant;ORIGIN=1
18 10979657 261499 T G . . AF_ESP=0.0140;AF_EXAC=0.00755;AF_TGP=0.0042;ALLELEID=256593;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.10979657T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=PIEZO2:63895;MC=SO:0001583|missense_variant;ORIGIN=1;RS=145948919
18 11689626 493232 G T . . ALLELEID=486195;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11689626G>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=956895925
18 11689632 526210 G A . . ALLELEID=532242;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11689632G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=987117042
18 11689824 416013 G A . . ALLELEID=402634;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11689824G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=181443061
18 11689828 444426 G A . . ALLELEID=438066;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11689828G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1
18 11689920 526219 G T . . ALLELEID=532143;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11689920G>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=747999584
18 11752494 39972 C T . . ALLELEID=48492;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11752494C>T;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139312.0006;GENEINFO=GNAL:2774;MC=SO:0001587|nonsense,SO:0001627|intron_variant;ORIGIN=1;RS=398122928
18 11752499 238559 C T . . AF_ESP=0.0101;AF_EXAC=0.00562;AF_TGP=0.0080;ALLELEID=243030;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11752499C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=73397885
18 11752545 416014 GCTTACA G . . ALLELEID=403161;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11752546_11752551delCTTACA;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GNAL:2774;MC=SO:0001627|intron_variant;ORIGIN=1;RS=1060504720
18 11752565 526222 C T . . ALLELEID=532517;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11752565C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001627|intron_variant,SO:0001819|synonymous_variant;ORIGIN=1;RS=145400180
18 11752905 425150 C A . . ALLELEID=413484;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11752905C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1;RS=768189751
18 11752923 526227 C T . . ALLELEID=532145;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11752923C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=374877331
18 11753638 374434 CAG C . . ALLELEID=361320;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11753639_11753640delAG;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Likely_pathogenic;CLNVC=Deletion;CLNVCSO=SO:0000159;GENEINFO=GNAL:2774;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=1057519098
18 11753832 39970 G GT . . ALLELEID=48490;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11753835dupT;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=OMIM_Allelic_Variant:139312.0004;GENEINFO=GNAL:2774;MC=SO:0001589|frameshift_variant;ORIGIN=1;RS=398122926
18 11753861 526226 A G . . ALLELEID=532148;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11753861A>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=182262644
18 11753912 455978 C T . . ALLELEID=468770;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11753912C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=76888098
18 11824933 39967 G A . . ALLELEID=48487;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11824933G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139312.0001|UniProtKB_(protein):P38405#VAR_069331;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398122923
18 11824987 39969 G A . . ALLELEID=48489;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11824987G>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139312.0003|UniProtKB_(protein):P38405#VAR_069332;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1;RS=398122925
18 11864576 39971 C CA . . ALLELEID=48491;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11864577dupA;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=Insertion;CLNVCSO=SO:0000667;CLNVI=OMIM_Allelic_Variant:139312.0005;GENEINFO=GNAL:2774;MC=SO:0001589|frameshift_variant,SO:0001623|5_prime_UTR_variant;ORIGIN=1;RS=398122927
18 11868627 444427 A C . . ALLELEID=438067;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11868627A>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1
18 11872345 39968 C A . . ALLELEID=48488;CLNDISDB=MedGen:C3554447,OMIM:615073,Orphanet:ORPHA329466;CLNDN=Dystonia_25;CLNHGVS=NC_000018.10:g.11872345C>A;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:139312.0002;GENEINFO=GNAL:2774;MC=SO:0001587|nonsense;ORIGIN=1;RS=398122924
18 11881003 416012 C T . . ALLELEID=402690;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11881003C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001819|synonymous_variant;ORIGIN=1;RS=41289504
18 11881007 455977 G A . . ALLELEID=468779;CLNDISDB=Human_Phenotype_Ontology:HP:0001332,MedGen:C0013421;CLNDN=Dystonia;CLNHGVS=NC_000018.10:g.11881007G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1;RS=142792291
18 11881049 420850 G A . . ALLELEID=410316;CLNDISDB=MedGen:CN517202;CLNDN=not_provided;CLNHGVS=NC_000018.10:g.11881049G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=GNAL:2774;MC=SO:0001583|missense_variant;ORIGIN=1;RS=1064794741
18 12325970 444894 T C . . ALLELEID=438536;CLNDISDB=MedGen:CN570508,OMIM:617732;CLNDN=FACIAL_PALSY,_CONGENITAL,_WITH_PTOSIS_AND_VELOPHARYNGEAL_DYSFUNCTION;CLNHGVS=NC_000018.10:g.12325970T>C;CLNREVSTAT=no_assertion_criteria_provided;CLNSIG=Pathogenic;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=OMIM_Allelic_Variant:615103.0001;GENEINFO=TUBB6:84617;MC=SO:0001583|missense_variant,SO:0001627|intron_variant;ORIGIN=1
18 12328980 326094 T G . . ALLELEID=330736;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12328980T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:680490;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053611
18 12329081 326095 T C . . AF_TGP=0.0002;ALLELEID=347859;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329081T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:303860;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=565352114
18 12329192 326096 C T . . ALLELEID=346543;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329192C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:583543;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053612
18 12329239 326097 C T . . AF_TGP=0.0002;ALLELEID=330737;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329239C>T;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:770219;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=180917336
18 12329254 326098 G A . . AF_TGP=0.0130;ALLELEID=330741;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329254G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:585053;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=79884272
18 12329344 326099 T C . . ALLELEID=346544;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329344T>C;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:735061;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=886053613
18 12329456 326100 T G . . AF_TGP=0.0098;ALLELEID=346546;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329456T>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:119075;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=114203162
18 12329537 326101 C G . . AF_ESP=0.2772;AF_EXAC=0.26312;AF_TGP=0.3359;ALLELEID=346552;CLNDISDB=MedGen:CN227858,Orphanet:ORPHA99;CLNDN=Spinocerebellar_Ataxia,_Dominant;CLNHGVS=NC_000018.10:g.12329537C>G;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;CLNVI=Illumina_Clinical_Services_Laboratory,Illumina:52473;GENEINFO=AFG3L2:10939|TUBB6:84617;MC=SO:0001624|3_prime_UTR_variant;ORIGIN=1;RS=1129115
18 12329549 384240 G A . . ALLELEID=376881;CLNDISDB=MedGen:CN169374;CLNDN=not_specified;CLNHGVS=NC_000018.10:g.12329549G>A;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;CLNVC=single_nucleotide_variant;CLNVCSO=SO:0001483;GENEINFO=AFG3L2:10939|TUBB6:84617;ORIGIN=1;RS=373716760