Total 130 pathogenic variants reported for Facioscapulohumeral muscular dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_015295.3(SMCHD1):c.2068C>T (p.Pro690Ser) SNV
Germline
Chr18:2707567 Pathogenic Facioscapulohumeral muscular dystrophy 2 No Assertion Criteria Provided
CA261232 rs_397514623

1 SubmittersRCV000033083

NM_015295.3(SMCHD1):c.4566G>A (p.Thr1522=) SNV
Germline
Chr18:2762236 Pathogenic Facioscapulohumeral muscular dystrophy 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1598416221

3 SubmittersRCV000033086RCV003137554

NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) SNV
Germline
Chr18:2739450 Conflicting classifications of pathogenicity not specified
Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA242785 rs_76290319

5 SubmittersRCV000253942RCV001081303RCV003258683RCV000724669

NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) SNV
Germline
Chr18:2666895 Conflicting classifications of pathogenicity not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870524 rs_369550628

3 SubmittersRCV000248986RCV000727120RCV001088098

NM_015295.3(SMCHD1):c.424+10C>T SNV
Germline
Chr18:2667041 Conflicting classifications of pathogenicity not specified
Facioscapulohumeral muscular dystrophy 2
Condition: not provided
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8870540 rs_201631086

5 SubmittersRCV000246732RCV000509531RCV000725190RCV003891952

NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) SNV
Germline
Chr18:2700879 Conflicting classifications of pathogenicity not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870756 rs_72862973

4 SubmittersRCV000247697RCV000725463RCV001079432

NM_015295.3(SMCHD1):c.1957-3C>T SNV
Germline
Chr18:2706361 Conflicting classifications of pathogenicity not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870852 rs_201069969

5 SubmittersRCV000243542RCV000725674RCV001088378

NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) SNV
Germline
Chr18:2772323 Conflicting classifications of pathogenicity not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871665 rs_151311806

3 SubmittersRCV000251991RCV000726283RCV001854965

NM_015295.3(SMCHD1):c.5878+8T>G SNV
Germline
Chr18:2796115 Conflicting classifications of pathogenicity not specified
Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871800 rs_144115061

4 SubmittersRCV000252296RCV000724994RCV001084843

NM_015295.3(SMCHD1):c.1030C>T (p.Arg344Ter) SNV
Germline
Chr18:2694683 Pathogenic Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10603333 rs_886041918

3 SubmittersRCV000392001RCV000791844

NM_015295.3(SMCHD1):c.150C>G (p.Arg50=) SNV
Germline
Chr18:2656225 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870467 rs_139872818

2 SubmittersRCV000385524RCV001078703

NM_015295.3(SMCHD1):c.5958T>A (p.Pro1986=) SNV
Germline
Chr18:2796486 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10604139 rs_886042374

2 SubmittersRCV000308073RCV002059103

NM_015295.3(SMCHD1):c.3633+7C>T SNV
Germline
Chr18:2740828 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871252 rs_200391083

2 SubmittersRCV000379349RCV002059107

NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) SNV
Germline
Chr18:2666913 Conflicting classifications of pathogenicity Condition: not provided
not specified
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870526 rs_7229488

4 SubmittersRCV000294460RCV001289227RCV002059108

NM_015295.3(SMCHD1):c.5937G>A (p.Thr1979=) SNV
Germline
Chr18:2796465 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871823 rs_776794549

2 SubmittersRCV000315570RCV001401060

NM_015295.3(SMCHD1):c.3801+1G>A SNV
Germline
Chr18:2743929 Pathogenic Facioscapulohumeral muscular dystrophy 2
Condition: not provided
Criteria Provided
Single Submitter
CA10604207 rs_886042417

2 SubmittersRCV000033085RCV000356100

NM_015295.3(SMCHD1):c.985C>A (p.Pro329Thr) SNV
Germline
Chr18:2694638 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870666 rs_145233420

2 SubmittersRCV000306911RCV001407288

NM_015295.3(SMCHD1):c.789C>T (p.His263=) SNV
Germline
Chr18:2688663 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8870641 rs_374899324

3 SubmittersRCV000291817RCV001079065RCV003957434

NM_015295.3(SMCHD1):c.279T>G (p.Asp93Glu) SNV
Germline
Chr18:2666886 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870521 rs_201466122

2 SubmittersRCV000263109RCV001089036

NM_015295.3(SMCHD1):c.1290T>C (p.His430=) SNV
Germline
Chr18:2697989 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870718 rs_376328601

2 SubmittersRCV000403970RCV001083675

NM_015295.3(SMCHD1):c.2152T>C (p.Leu718=) SNV
Germline
Chr18:2707812 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870912 rs_112500113

2 SubmittersRCV000306893RCV001088679

NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) SNV
Germline
Chr18:2771590 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8871640 rs_201071071

4 SubmittersRCV000275554RCV001342182RCV003278737

NM_015295.3(SMCHD1):c.2914-8T>C SNV
Germline
Chr18:2729267 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10605102 rs_886043095

2 SubmittersRCV000309380RCV002055060

NM_015295.3(SMCHD1):c.1164G>A (p.Lys388=) SNV
Germline
Chr18:2697863 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870703 rs_778279069

2 SubmittersRCV000294233RCV001478141

NM_015295.3(SMCHD1):c.3277-5C>T SNV
Germline
Chr18:2738392 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8871170 rs_542259388

3 SubmittersRCV000352332RCV001089314RCV003967747

NM_015295.3(SMCHD1):c.3381A>G (p.Ser1127=) SNV
Germline
Chr18:2738501 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10605226 rs_747331582

2 SubmittersRCV000405504RCV003650568

NM_015295.3(SMCHD1):c.4320C>T (p.Asp1440=) SNV
Germline
Chr18:2752526 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871446 rs_374154803

2 SubmittersRCV000378735RCV001087531

NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) SNV
Germline
Chr18:2732425 Conflicting classifications of pathogenicity not specified
Condition: not provided
Scapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871151 rs_113434340

6 SubmittersRCV000321018RCV000725767RCV000850315RCV001859637

NM_015295.3(SMCHD1):c.5478A>G (p.Val1826=) SNV
Germline
Chr18:2778170 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10605551 rs_886043464

2 SubmittersRCV000366096RCV001431387

NM_015295.3(SMCHD1):c.3636A>G (p.Glu1212=) SNV
Germline
Chr18:2743763 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871271 rs_372008124

2 SubmittersRCV000364487RCV001463457

NM_015295.3(SMCHD1):c.5046A>G (p.Thr1682=) SNV
Germline
Chr18:2771612 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10605943 rs_886043784

2 SubmittersRCV000317964RCV002059231

NM_015295.3(SMCHD1):c.63A>G (p.Gly21=) SNV
Germline
Chr18:2656138 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870452 rs_772718353

2 SubmittersRCV000356427RCV003535684

NM_015295.3(SMCHD1):c.3868G>T (p.Asp1290Tyr) SNV
Germline
Chr18:2747588 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871326 rs_146798599

2 SubmittersRCV000361618RCV001434919

NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) SNV
Germline
Chr18:2656237 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8870471 rs_766395572

3 SubmittersRCV000350229RCV002059246RCV003897638

NM_015295.3(SMCHD1):c.3514+7A>G SNV
Germline
Chr18:2739527 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10606324 rs_886044081

2 SubmittersRCV000263327RCV002518068

NM_015295.3(SMCHD1):c.4827A>G (p.Leu1609=) SNV
Germline
Chr18:2769801 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871578 rs_774077792

2 SubmittersRCV000276739RCV001406858

NM_015295.3(SMCHD1):c.5625C>T (p.Gly1875=) SNV
Germline
Chr18:2784527 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10606717 rs_886044408

2 SubmittersRCV000320683RCV002059283

NM_015295.3(SMCHD1):c.5787A>G (p.Gln1929=) SNV
Germline
Chr18:2796016 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871793 rs_369084979

2 SubmittersRCV000405877RCV002518131

NM_015295.3(SMCHD1):c.3633+10C>T SNV
Germline
Chr18:2740831 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871254 rs_368857612

2 SubmittersRCV000357467RCV001413532

NM_015295.3(SMCHD1):c.319C>T (p.Leu107=) SNV
Germline
Chr18:2666926 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA10606840 rs_769766392

2 SubmittersRCV000293635RCV002059296

NM_015295.3(SMCHD1):c.1191C>T (p.Asp397=) SNV
Germline
Chr18:2697890 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870711 rs_535674229

2 SubmittersRCV000405521RCV002059306

NM_015295.3(SMCHD1):c.410G>A (p.Gly137Glu) SNV
Germline
Chr18:2667017 Pathogenic Arrhinia with choanal atresia and microphthalmia syndrome
Facioscapulohumeral muscular dystrophy 2
No Assertion Criteria Provided
CA16602280 rs_1057519644

2 SubmittersRCV000417296RCV000417337

NM_015295.3(SMCHD1):c.4108C>T (p.Arg1370Cys) SNV
Germline
Chr18:2750450 Conflicting classifications of pathogenicity not specified
Facioscapulohumeral muscular dystrophy 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA295479500 rs_942559171

3 SubmittersRCV000517186RCV000639706RCV003139714

NM_015295.3(SMCHD1):c.1040+1G>A SNV
Germline
Chr18:2694694 Pathogenic Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts
CA401695240 rs_1245372794

2 SubmittersRCV003156250RCV000559900

NM_015295.3(SMCHD1):c.925C>G (p.Leu309Val) SNV
Germline
Chr18:2694578 Conflicting classifications of pathogenicity not specified
Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8870660 rs_569470518

3 SubmittersRCV000595520RCV001454163RCV004024703

NM_015295.3(SMCHD1):c.2289G>A (p.Ser763=) SNV
Germline
Chr18:2718186 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870942 rs_58683258

2 SubmittersRCV000598097RCV001443023

NM_015295.3(SMCHD1):c.5253T>C (p.Cys1751=) SNV
Germline
Chr18:2775811 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA502673571 rs_1172138387

2 SubmittersRCV000595788RCV001504141

NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) SNV
Germline
Chr18:2707811 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870911 rs_372945746

3 SubmittersRCV000596302RCV001087067

NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) SNV
Germline
Chr18:2728521 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8871073 rs_375251871

4 SubmittersRCV000597933RCV001088158RCV003935598

NM_015295.3(SMCHD1):c.1479T>C (p.Thr493=) SNV
Germline
Chr18:2700750 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8870746 rs_755868793

2 SubmittersRCV000595487RCV001479983

NM_015295.3(SMCHD1):c.2577T>C (p.Thr859=) SNV
Germline
Chr18:2722637 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA502676962 rs_1408054045

2 SubmittersRCV000596289RCV003653221

NM_015295.3(SMCHD1):c.3891T>C (p.His1297=) SNV
Germline
Chr18:2747611 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871332 rs_758075470

2 SubmittersRCV000598210RCV002062053

NM_015295.3(SMCHD1):c.90G>A (p.Leu30=) SNV
Germline
Chr18:2656165 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA502670569 rs_1555622278

2 SubmittersRCV000594998RCV002532477

NM_015295.3(SMCHD1):c.3414G>A (p.Ala1138=) SNV
Germline
Chr18:2738534 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
CA8871187 rs_778892054

2 SubmittersRCV000597408RCV001483319

NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) SNV
Germline
Chr18:2706432 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications
CA8870859 rs_766575963

3 SubmittersRCV000592431RCV002065180RCV003905556

NM_015295.3(SMCHD1):c.3484C>T (p.Gln1162Ter) SNV
Germline
Chr18:2739490 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
CA401687929 rs_1555644339

1 SubmittersRCV000639711

NM_015295.3(SMCHD1):c.4719+1G>T SNV
Germline
Chr18:2763790 Likely pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
CA401697665 rs_886044369

1 SubmittersRCV000639707

NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) SNV
Germline
Chr20:32787405 Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
not specified
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Facioscapulohumeral muscular dystrophy 4, digenic
DNMT3B-related disorder
Criteria Provided
Conflicting Classifications
CA9810268 rs_147945634

4 SubmittersRCV000636690RCV001280986RCV001816578RCV003224358RCV003928070

NM_015295.3(SMCHD1):c.744A>G (p.Gln248=) SNV
Germline
Chr18:2688499 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_746148722

2 SubmittersRCV000727961RCV001303555

NM_015295.3(SMCHD1):c.162G>A (p.Ala54=) SNV
Germline
Chr18:2656237 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_766395572

2 SubmittersRCV000728344RCV000801386

NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) SNV
Germline
Chr18:2762131 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_763699437

3 SubmittersRCV000729503RCV001862173

NM_015295.3(SMCHD1):c.954C>T (p.Ser318=) SNV
Germline
Chr18:2694607 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_769558309

2 SubmittersRCV000729866RCV002060983

NM_015295.3(SMCHD1):c.2604-7T>C SNV
Germline
Chr18:2724892 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_751707679

2 SubmittersRCV000730308RCV002535149

NM_015295.3(SMCHD1):c.1186C>T (p.Gln396Ter) SNV
Germline
Chr18:2697885 Pathogenic Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_377471712

3 SubmittersRCV000731133RCV002535190

NM_015295.3(SMCHD1):c.5127G>T (p.Ser1709=) SNV
Germline
Chr18:2772324 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_371834462

2 SubmittersRCV000731981RCV001078602

NM_015295.3(SMCHD1):c.5526G>A (p.Ala1842=) SNV
Germline
Chr18:2778218 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_760266416

2 SubmittersRCV000732611RCV002535284

NM_015295.3(SMCHD1):c.2064-9T>C SNV
Germline
Chr18:2707554 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_376058538

2 SubmittersRCV000733403RCV002067151

NM_015295.3(SMCHD1):c.2701-8T>C SNV
Germline
Chr18:2726444 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_1324600079

2 SubmittersRCV000734302RCV001397137

NM_015295.3(SMCHD1):c.4161C>T (p.Phe1387=) SNV
Germline
Chr18:2750503 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_553970445

2 SubmittersRCV000734756RCV003534751

NM_006892.4(DNMT3B):c.1490+8C>G SNV
Germline
Chr20:32797307 Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
Facioscapulohumeral muscular dystrophy 4, digenic
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Criteria Provided
Conflicting Classifications
rs_746731138

2 SubmittersRCV000768198RCV003224439RCV003758924

NM_015295.3(SMCHD1):c.1654C>T (p.Arg552Ter) SNV
Germline
Chr18:2703698 Pathogenic Facioscapulohumeral muscular dystrophy 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1224850132

2 SubmittersRCV001212601RCV001780128

NM_015295.3(SMCHD1):c.87C>A (p.Tyr29Ter) SNV
Germline
Chr18:2656162 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2073049380

1 SubmittersRCV001227734

NM_015295.3(SMCHD1):c.3469G>T (p.Gly1157Ter) SNV
Germline
Chr18:2739475 Pathogenic Facioscapulohumeral muscular dystrophy 2 No Assertion Criteria Provided
rs_2075308386

1 SubmittersRCV001310239

NM_015295.3(SMCHD1):c.340C>T (p.Arg114Ter) SNV
Germline
Chr18:2666947 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2143805963

1 SubmittersRCV001385548

NM_015295.3(SMCHD1):c.3323T>C (p.Leu1108Pro) SNV
Germline
Chr18:2738443 Likely pathogenic Facioscapulohumeral muscular dystrophy 2 No Assertion Criteria Provided
rs_2143530610

1 SubmittersRCV001542794

NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg) SNV
Germline
Chr20:32798548 Pathogenic Facioscapulohumeral muscular dystrophy 4, digenic No Assertion Criteria Provided
rs_2146029958

1 SubmittersRCV001568341

NM_015295.3(SMCHD1):c.2008G>T (p.Asp670Tyr) SNV
Unknown
Chr18:2706415 Likely pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2143241656

1 SubmittersRCV001730113

NM_015295.3(SMCHD1):c.5383C>T (p.Arg1795Ter) SNV
Germline
Chr18:2777822 Pathogenic Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_867694014

2 SubmittersRCV001784999RCV003653493

NM_015295.3(SMCHD1):c.3736C>T (p.Arg1246Ter) SNV
Germline
Chr18:2743863 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_924153704

1 SubmittersRCV002007289

NM_015295.3(SMCHD1):c.1647+3A>G SNV
Germline
Chr18:2700921 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2143184995

1 SubmittersRCV001927967

NM_015295.3(SMCHD1):c.2732T>G (p.Leu911Ter) SNV
Germline
Chr18:2726483 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2143438994

1 SubmittersRCV001970062

NM_015295.3(SMCHD1):c.1396A>T (p.Arg466Ter) SNV
Germline
Chr18:2700592 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter
rs_2143182200

1 SubmittersRCV001972732

NM_015295.3(SMCHD1):c.1463+10A>G SNV
Germline
Chr18:2700669 Conflicting classifications of pathogenicity See cases
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications
rs_2074381441

2 SubmittersRCV002252869RCV003094108

NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=) SNV
Germline
Chr18:2724983 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002474462RCV002571529

NM_015295.3(SMCHD1):c.5801G>A (p.Arg1934His) SNV
Germline
Chr18:2796030 Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003068787RCV003081117

NM_015295.3(SMCHD1):c.186+6C>G SNV
Germline
Chr18:2656267 Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2
SMCHD1-related disorder
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003074286RCV003906467

NM_015295.3(SMCHD1):c.3247A>G (p.Ile1083Val) SNV
Germline
Chr18:2732463 Conflicting classifications of pathogenicity Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV003420545RCV003110851

NM_015295.3(SMCHD1):c.3019C>T (p.Gln1007Ter) SNV
Germline
Chr18:2729380 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter

1 SubmittersRCV002706025

NM_015295.3(SMCHD1):c.3786G>A (p.Trp1262Ter) SNV
Germline
Chr18:2743913 Pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter

1 SubmittersRCV002932869

NM_015295.3(SMCHD1):c.3938C>G (p.Ser1313Ter) SNV
Germline
Chr18:2750053 Pathogenic/Likely pathogenic Condition: not provided
Facioscapulohumeral muscular dystrophy 2
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003134163RCV003649427

NM_015295.3(SMCHD1):c.2656C>T (p.Arg886Ter) SNV
Germline
Chr18:2724951 Pathogenic/Likely pathogenic Facioscapulohumeral muscular dystrophy 2
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003535031RCV003991628

NM_015295.3(SMCHD1):c.262+1G>A SNV
Germline
Chr18:2666233 Likely pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter

1 SubmittersRCV003649711

NM_015295.3(SMCHD1):c.1647+1G>T SNV
Germline
Chr18:2700919 Likely pathogenic Facioscapulohumeral muscular dystrophy 2 Criteria Provided
Single Submitter

1 SubmittersRCV003650894