SMCHD1 — 1777 ClinVar variants

All ClinVar germline SMCHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 757 flagged for review →

92 Pathogenic · 8 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 101 Conflicting · 137 Benign · 19 Benign/Likely benign · 564 Likely benign · 813 Uncertain significance

Full SMCHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 757

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SMCHD1 p.Ser135Asn Pathogenic Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn139His Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Asp420Val Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Glu473Gln Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Leu141Phe Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Met129Lys Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia

Predictors agree, ClinVar conflicts 32

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SMCHD1 p.Arg1239His Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Arg1370Cys Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1515Lys Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg158His Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Arg1669Gln Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Arg1934Cys Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1934His Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1972His Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg479Gln Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn104Ser Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn1291Ser Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn882His Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp88Gly Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp93Glu Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly7Ser Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.His1675Arg Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Ile1070Thr Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1083Val Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1281Val Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Ile1436Val Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Ile1537Val Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Ile1779Val Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu309Val Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys2002Thr Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro329Thr Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Ser1709Leu Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Thr1176Ile Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1114Ile Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1369Ile Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Val14Met Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Val1566Met Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1638Ile Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

SMCHD1 c.3634-1G>C Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2

Predictors lean, ClinVar uncertain 566

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 566

SMCHD1 p.Ala1138Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1428Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala146Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1759Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala347Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala464Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala54Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala601Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala801Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg114Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg1370His Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg1409His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1506His Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg1596Gln Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1596Trp Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1669Leu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1694Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg1762His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1762Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1795Gln Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1913His Uncertain significance Multiple submitters
SMCHD1-related disorder
SMCHD1 p.Arg1965Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1965His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1965Pro Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1972Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg220His Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg226His Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg344Gln Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg363Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg836His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg886Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg929Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asn1082Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn1213Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asn1439Ser Uncertain significance Multiple submitters
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Asn1567Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn1652Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asn229Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1006Glu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1146Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1399Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asp1786Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asp1806Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1920Glu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1925Asn Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1925Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asp1969Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asp19His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp2004Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp636Asn Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp914His Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Cys444Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gln1106Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Gln1632Glu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gln1910Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gln396Lys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Glu37Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Gly10Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Gly1385Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Gly1385Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly1385Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly15Trp Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly161Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly209Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly41Arg Uncertain significance Multiple submitters
SMCHD1 p.Gly869Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly869Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly887Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.His1297Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.His307Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile1050Phe Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1260Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1555Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1637Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile1804Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile1835Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile253Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile332Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile362Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile376Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile608Met Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile666Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile74Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile82Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ile917Asn Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile941Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1257Phe Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1265Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Leu1533Phe Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1533Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1799Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Leu1933His Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1971Trp Uncertain significance Multiple submitters
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Leu911Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Leu954Ser Uncertain significance Multiple submitters
SMCHD1 p.Leu99Pro Uncertain significance Multiple submitters
SMCHD1 p.Lys1207Glu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys1367Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys2002Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Lys610Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys879Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Met1121Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Met1155Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Met129Val Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Met1639Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Met1883Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe631Leu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1023Ser Uncertain significance Multiple submitters
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Pro1263Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1595Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1680Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1963Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Pro68Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1268Phe Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1393Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser13Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1432Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ser1520Asn Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1569Leu Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1634Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1719Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser318Thr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser871Tyr Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr1008Met Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr1116Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr111Met Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr1419Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Thr1522Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Thr1681Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Thr16Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Thr1979Met Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Tyr1764Cys Uncertain significance Multiple submitters
SMCHD1 p.Tyr1800Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1036Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Val1199Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1534Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val162Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val422Ile Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val423Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val615Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val678Asp Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val982Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala1086Thr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1255Ser Uncertain significance Single submitter
SMCHD1 p.Ala12Asp Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala12Thr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1325Thr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1334Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1345Thr Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Ala1379Thr Uncertain significance Single submitter

Predictors split 152

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 152

SMCHD1 p.Ala1062Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1239Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1761Cys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1811Gln Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg26Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Arg393Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asn1796Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Asp1233Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp435Gly Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gln1248Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Glu1849Lys Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Glu721Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Gly285Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly548Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1402Asn Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile232Val Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile282Met Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Leu1087Ser Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1104Phe Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1016Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ser1117Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ser522Arg Uncertain significance Multiple submitters
SMCHD1 p.Thr1084Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Thr484Ala Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr77Arg Uncertain significance Multiple submitters
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr83Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Tyr1347Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Val1457Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SMCHD1 p.Ala1428Pro Uncertain significance Single submitter
SMCHD1 p.Ala146Gly Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala1842Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala198Ser Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala711Thr Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Ala805Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala890Thr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1324Ser Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1370Gly Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg164Ile Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg1762Cys Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Arg1866Gln Uncertain significance Single submitter
SMCHD1 p.Arg1887Gln Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Arg220Pro Uncertain significance Single submitter
SMCHD1 p.Arg428Leu Uncertain significance Single submitter
SMCHD1 p.Arg552Gln Conflicting Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Asn1406Lys Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Asn195Tyr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn977Ile Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1020Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1290Tyr Conflicting Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1376Val Likely benign Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1399Tyr Uncertain significance Single submitter
SMCHD1 p.Asp1516Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1616Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp1884His Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp214Glu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp231Gly Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp258Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp32Asn Uncertain significance Single submitter
SMCHD1 p.Asp442Glu Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Asp571Gly Uncertain significance Single submitter
SMCHD1 p.Asp605Ala Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asp670Tyr Likely pathogenic Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Cys474Arg Uncertain significance Single submitter
SMCHD1-related disorder
SMCHD1 p.Gln573Pro Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gln593His Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Glu136Asp Conflicting Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Glu280Gly Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Glu532Gly Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Glu747Asp Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Glu780Lys Uncertain significance Single submitter
SMCHD1 p.Gly1164Ser Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly1583Arg Uncertain significance Single submitter
SMCHD1 p.Gly1888Glu Likely pathogenic Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Gly359Glu Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.His1793Tyr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.His331Gln Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ile1091Thr Likely benign Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Ile1688Met Uncertain significance Single submitter
SMCHD1 p.Ile1726Thr Uncertain significance Single submitter
SMCHD1 p.Leu118Ser Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1257Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu1908His Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu202Phe Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu904Met Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu918Val Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys1367Asn Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Lys1725Asn Uncertain significance Single submitter
SMCHD1 p.Lys616Asn Uncertain significance Single submitter
SMCHD1 p.Lys742Glu Uncertain significance Single submitter
SMCHD1 p.Lys900Glu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Met1073Ile Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Met399Ile Uncertain significance Single submitter
SMCHD1 p.Phe1042Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe1244Leu Uncertain significance Single submitter
SMCHD1 p.Phe1330Leu Uncertain significance Single submitter
SMCHD1 p.Phe1381Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe1446Leu Uncertain significance Single submitter
SMCHD1 p.Phe1565Tyr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe171Val Uncertain significance Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Phe205Tyr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe72Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe776Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe826Cys Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Phe828Leu Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Pro1016His Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1263Leu Uncertain significance Single submitter
SMCHD1 p.Pro142Ser Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro1610Thr Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro387Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro595Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Pro810Ser Uncertain significance Single submitter
SMCHD1 p.Ser1195Pro Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Ser135Ile Likely pathogenic Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Ser1476Arg Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1642Cys Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser1869Asn Uncertain significance Single submitter
SMCHD1 p.Ser522Asn Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ser915Pro Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr1627Lys Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr1858Ala Uncertain significance Single submitter
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Thr401Met Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr406Pro Uncertain significance Single submitter
SMCHD1 p.Thr484Ile Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr527Met Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Thr663Ala Conflicting Single submitter
Inborn genetic diseases
SMCHD1 p.Thr961Ile Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Trp1060Leu Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Trp604Arg Uncertain significance Single submitter
SMCHD1 p.Tyr1525Cys Uncertain significance Single submitter
SMCHD1 p.Tyr283Cys Pathogenic Single submitter
SMCHD1 p.Tyr804Cys Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Tyr98Asn Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1021Met Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val1295Gly Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Val1298Gly Uncertain significance Single submitter
Inborn genetic diseases
SMCHD1 p.Val1373Phe Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val199Met Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Val246Ala Uncertain significance Single submitter
SMCHD1 p.Val390Asp Uncertain significance Single submitter
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Ala242Gly Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Arg688Thr Uncertain significance No assertion criteria
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Asn524Ser Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Gln400Leu Pathogenic No assertion criteria
Short nose
SMCHD1 p.Gly1227Arg Likely pathogenic No assertion criteria
muscular dystrophy, scapulohumeral
SMCHD1 p.Gly137Glu Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.His348Arg Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Leu107Pro Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia
SMCHD1 p.Leu1108Pro Likely pathogenic No assertion criteria
facioscapulohumeral muscular dystrophy 2
SMCHD1 p.Leu30Trp Uncertain significance No assertion criteria
muscular dystrophy, scapulohumeral
SMCHD1 p.Ser135Cys Pathogenic No assertion criteria
arhinia, choanal atresia, and microphthalmia

All SMCHD1 variants

Pathogenic 92

c.1040+1G>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.3276_3276+4del Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg1795Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg344Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg552Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln1162Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln396Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Glu1579fs Multiple submitters
p.Thr1522= Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1647+3A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-1G>A Single submitter
c.2147-1G>A Single submitter
c.2260+5G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-1G>T Single submitter
c.3049-2A>G Single submitter
c.3801+1G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4007+1G>A Single submitter
c.5547+1G>C Single submitter
p.Ala674fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg114Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg1246Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg428fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg466Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg630fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Asp42fs Single submitter
p.Asp691fs Single submitter
p.Gln1007Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln1296Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln1877fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln345Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln400fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln551Ter Single submitter
p.Gln793Ter Single submitter Abnormality of the musculature
p.Glu1080fs Single submitter
p.Glu1629fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu212Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu473Ter Single submitter Inborn genetic diseases
p.Glu728fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Ile1091fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Ile149fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Ile1608fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Ile1674fs Single submitter
p.Ile715Tyrfs Single submitter
p.Leu1258fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Leu1600fs Single submitter
p.Leu1633Ter Single submitter
p.Leu693fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Leu911Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Lys414Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Met1066fs Single submitter
p.Met779fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Phe624fs Single submitter
p.Phe828fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Phe87fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Pro1145fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Pro840fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser135Asn Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1411fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Thr1303fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Trp1262fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Trp1262Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Trp596Gly Single submitter Abnormality of the musculature
p.Trp596Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Tyr283Cys Single submitter ⚠
p.Tyr29Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Tyr434_Arg436delinsTer Single submitter facioscapulohumeral muscular dystrophy 2
p.Tyr439fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Val1369fs Single submitter facioscapulohumeral muscular dystrophy 2
p.Val243fs Single submitter
c.4346+1G>T No assertion criteria Proximal upper limb muscle weakness
p.Ala242Gly No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Ala711fs No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Asn139His No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Asn507fs No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Asn524Ser No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Asp420Val No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Asp537fs No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Gln1487Ter No assertion criteria muscular dystrophy, scapulohumeral
p.Gln400Leu No assertion criteria Short nose ⚠
p.Glu473Gln No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Gly1157Ter No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Gly1221fs No assertion criteria muscular atrophy
p.Gly137Glu No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.His348Arg No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Leu107Pro No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Leu141Phe No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Lys1717fs No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Met129Lys No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Phe776fs No assertion criteria SMCHD1-related disorder
p.Pro690Ser No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Ser135Cys No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠
p.Thr523Lys No assertion criteria arhinia, choanal atresia, and microphthalmia ⚠

Pathogenic/Likely pathogenic 8

c.3274_3276+1del Multiple submitters Inborn genetic diseases
c.3276+4_3276+7del Multiple submitters facioscapulohumeral muscular dystrophy 2
c.424+1G>A Multiple submitters Chediak-Higashi syndrome
p.Arg1423Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg886Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Glu558fs Multiple submitters SMCHD1-related disorder
p.Lys726fs Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser1313Ter Multiple submitters facioscapulohumeral muscular dystrophy 2

Likely pathogenic 43

c.1464-2A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1647+1G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-2A>G Single submitter SMCHD1-related disorder
c.2339-2del Single submitter
c.2604-2A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.262+1G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.262+1G>T Single submitter
c.263-1G>A Single submitter
c.3277-2A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3426-5T>G Single submitter
c.4281+2T>A Single submitter SMCHD1-related disorder
c.4282-2A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4719+1G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4966+1G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5052+2T>C Single submitter
c.5548-4A>G Single submitter facioscapulohumeral muscular dystrophy 1
c.5720-2A>C Single submitter
c.638+1G>A Single submitter
p.Arg363Ter Single submitter SMCHD1-related disorder
p.Asp670Tyr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Cys1856Ter Single submitter
p.Gln1215fs Single submitter SMCHD1-related disorder
p.Gln1684Ter Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu640Ter Single submitter SMCHD1-related disorder
p.Gly1888Glu Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1763fs Single submitter
p.Lys275del Single submitter
p.Lys572_Gln573insTer Single submitter facioscapulohumeral muscular dystrophy 2
p.Lys743Ter Single submitter SMCHD1-related disorder
p.Ser135Ile Single submitter arhinia, choanal atresia, and microphthalmia ⚠
p.Ser1928fs Single submitter
p.Thr1627fs Single submitter
p.Thr16fs Single submitter
p.Thr77del Single submitter
p.Tyr1715_Thr1716insTer Single submitter facioscapulohumeral muscular dystrophy 2
p.Tyr634Ter Single submitter facioscapulohumeral muscular dystrophy 2
c.4966+5G>A No assertion criteria muscular dystrophy, scapulohumeral
p.Arg1770fs No assertion criteria SMCHD1-related disorder
p.Asp1006fs No assertion criteria facioscapulohumeral muscular dystrophy 2
p.Glu264Lys No assertion criteria muscular dystrophy, scapulohumeral
p.Gly1227Arg No assertion criteria muscular dystrophy, scapulohumeral ⚠
p.His430del No assertion criteria muscular dystrophy, scapulohumeral
p.Leu1108Pro No assertion criteria facioscapulohumeral muscular dystrophy 2 ⚠

Conflicting classifications of pathogenicity 101

c.1463+10A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-8_1843-5del Single submitter facioscapulohumeral muscular dystrophy 2
c.1957-3C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2064-9T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-7T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-8del Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-8dup Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-8T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2914-8T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3277-5C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3514+7A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3633+10C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3633+7C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3634-10dup Single submitter facioscapulohumeral muscular dystrophy 2
c.3634-1G>C Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
c.4008-7_4008-3del Single submitter facioscapulohumeral muscular dystrophy 2
c.424+10C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4282-5dup Single submitter facioscapulohumeral muscular dystrophy 2
c.4567-9dup Single submitter facioscapulohumeral muscular dystrophy 2
c.5878+8T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5993+3_5993+7dup Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala1842= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala54= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala717= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala946= Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg1239His Single submitter Inborn genetic diseases ⚠
p.Arg1370Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1515Lys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg158His Single submitter Inborn genetic diseases ⚠
p.Arg1669Gln Single submitter Inborn genetic diseases ⚠
p.Arg187Ser Single submitter Inborn genetic diseases
p.Arg1934Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1934His Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1972His Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg479Gln Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg50= Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg552Gln Single submitter arhinia, choanal atresia, and microphthalmia ⚠
p.Asn104Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Asn1291Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Asn882His Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1202= Single submitter facioscapulohumeral muscular dystrophy 2
p.Asp1290Tyr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1440= Single submitter facioscapulohumeral muscular dystrophy 2
p.Asp397= Single submitter Inborn genetic diseases
p.Asp442Glu Single submitter Inborn genetic diseases ⚠
p.Asp88Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp93Glu Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Cys1751= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln1487= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln1929= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gln248= Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu1212= Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu136Asp Single submitter arhinia, choanal atresia, and microphthalmia ⚠
p.Glu1546= Single submitter facioscapulohumeral muscular dystrophy 2
p.Glu675= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gly1875= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gly21= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gly635= Single submitter facioscapulohumeral muscular dystrophy 2
p.Gly7Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.His1297= Single submitter facioscapulohumeral muscular dystrophy 2
p.His1675Arg Single submitter Inborn genetic diseases ⚠
p.His263= Single submitter facioscapulohumeral muscular dystrophy 2
p.His430= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ile1070Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1083Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1281Val Single submitter Inborn genetic diseases ⚠
p.Ile1436Val Single submitter Inborn genetic diseases ⚠
p.Ile1537Val Single submitter Inborn genetic diseases ⚠
p.Ile1779Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1609= Single submitter facioscapulohumeral muscular dystrophy 2
p.Leu30= Single submitter facioscapulohumeral muscular dystrophy 2
p.Leu309Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu978= Single submitter facioscapulohumeral muscular dystrophy 2
p.Lys2002Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Lys388= Single submitter facioscapulohumeral muscular dystrophy 2
p.Lys536= Single submitter facioscapulohumeral muscular dystrophy 2
p.Phe1387= Single submitter facioscapulohumeral muscular dystrophy 2
p.Phe1565= Single submitter
p.Pro1148= Single submitter Inborn genetic diseases
p.Pro1226Lys Single submitter facioscapulohumeral muscular dystrophy 2
p.Pro1986= Single submitter facioscapulohumeral muscular dystrophy 2
p.Pro329Thr Single submitter Inborn genetic diseases ⚠
p.Ser102= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser1033= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser1127= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser1709= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser1709Leu Single submitter Inborn genetic diseases ⚠
p.Ser318= Single submitter facioscapulohumeral muscular dystrophy 2
p.Ser896= Single submitter facioscapulohumeral muscular dystrophy 2
p.Thr1176Ile Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr1682= Single submitter facioscapulohumeral muscular dystrophy 2
p.Thr1979= Single submitter facioscapulohumeral muscular dystrophy 2
p.Thr493= Single submitter facioscapulohumeral muscular dystrophy 2
p.Thr663Ala Single submitter Inborn genetic diseases ⚠
p.Thr859= Single submitter facioscapulohumeral muscular dystrophy 2
p.Val1114Ile Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Val1369Ile Single submitter Inborn genetic diseases ⚠
p.Val14Met Single submitter Inborn genetic diseases ⚠
p.Val1566Met Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Val1638Ile Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Val1826= Single submitter facioscapulohumeral muscular dystrophy 2

Benign 137

c.1342+86T>C Multiple submitters
c.1647+199A>G Multiple submitters
c.1647+246G>T Multiple submitters
c.1843-17T>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1843-59T>A Multiple submitters
c.1843-77A>G Multiple submitters
c.187-110A>C Multiple submitters
c.187-72T>C Multiple submitters
c.2063+24G>A Multiple submitters
c.2338+32A>G Multiple submitters arhinia, choanal atresia, and microphthalmia
c.2603+25T>G Multiple submitters
c.262+25G>C Multiple submitters
c.262+48T>C Multiple submitters
c.2701-85C>G Multiple submitters
c.2774-127A>G Multiple submitters
c.2913+113C>T Multiple submitters
c.2913+92T>A Multiple submitters
c.2914-103C>A Multiple submitters
c.2914-96T>C Multiple submitters
c.3277-42_3277-39dup Multiple submitters arhinia, choanal atresia, and microphthalmia
c.3425+37C>T Multiple submitters arhinia, choanal atresia, and microphthalmia
c.3515-76G>A Multiple submitters
c.3634-35C>T Multiple submitters
c.3802-16T>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4007+84C>T Multiple submitters
c.4008-110A>G Multiple submitters
c.424+33T>C Multiple submitters
c.425-203A>G Multiple submitters
c.425-77A>G Multiple submitters
c.4281+84A>G Multiple submitters
c.4346+287G>A Multiple submitters
c.4347-295G>A Multiple submitters
c.4847-6del Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4966+95T>C Multiple submitters
c.4967-15G>T Multiple submitters arhinia, choanal atresia, and microphthalmia
c.5367-85A>G Multiple submitters
c.5476+10A>G Multiple submitters arhinia, choanal atresia, and microphthalmia
c.5547+145C>T Multiple submitters
c.5548-43_5548-40del Multiple submitters arhinia, choanal atresia, and microphthalmia
c.5719+307G>A Multiple submitters
c.5720-95A>G Multiple submitters
c.638+109T>C Multiple submitters
c.639-86A>G Multiple submitters
c.873+53G>A Multiple submitters
c.873+7T>C Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ala1379= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ala58= Multiple submitters arhinia, choanal atresia, and microphthalmia
p.Gly1543= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Lys879Asn Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Pro1368= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser1204= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Thr1176= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Thr617= Multiple submitters arhinia, choanal atresia, and microphthalmia
p.Tyr133= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Val708Ile Multiple submitters arhinia, choanal atresia, and microphthalmia
c.1040+276G>A Single submitter
c.1041-199C>T Single submitter
c.1132-146A>G Single submitter
c.1342+133A>G Single submitter
c.1342+207G>T Single submitter
c.1343-333G>A Single submitter
c.1647+245dup Single submitter
c.1647+259dup Single submitter
c.1843-12del Single submitter facioscapulohumeral muscular dystrophy 2
c.2064-286G>A Single submitter
c.2260+228T>C Single submitter
c.2260+335_2260+346dup Single submitter
c.2261-207del Single submitter
c.2261-273A>G Single submitter
c.2458+171G>T Single submitter
c.2458+269C>T Single submitter
c.2458+293A>G Single submitter
c.2603+253A>G Single submitter
c.2603+288_2603+290del Single submitter
c.263-164T>G Single submitter
c.2700+205A>G Single submitter
c.2700+234C>G Single submitter
c.2700+240G>A Single submitter
c.2700+275A>G Single submitter
c.2701-211C>A Single submitter
c.2701-217C>G Single submitter
c.2913+157_2913+158del Single submitter
c.2913+158del Single submitter
c.2914-311dup Single submitter
c.3048+225T>C Single submitter
c.3048+298C>T Single submitter
c.3048+312_3048+314dup Single submitter
c.3049-214C>A Single submitter
c.3049-253A>G Single submitter
c.3276+177A>T Single submitter
c.3276+288A>G Single submitter
c.3277-136G>A Single submitter
c.3277-233T>C Single submitter
c.3277-282G>A Single submitter
c.3277-283C>T Single submitter
c.3514+215G>A Single submitter
c.3514+235G>A Single submitter
c.3633+231A>G Single submitter
c.3802-296T>C Single submitter
c.3927+151A>T Single submitter
c.3927+195A>G Single submitter
c.3927+332C>T Single submitter
c.3928-133A>G Single submitter
c.4165+109_4165+110del Single submitter
c.4165+286A>G Single submitter
c.4165+301C>T Single submitter
c.4166-110_4166-109insAT Single submitter
c.4166-14G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4281+246T>C Single submitter
c.4282-246A>G Single submitter
c.4434+17del Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+17dup Single submitter facioscapulohumeral muscular dystrophy 2
c.4435-150A>G Single submitter
c.4435-180C>G Single submitter
c.4566+275del Single submitter
c.4566+275dup Single submitter
c.4847-6dup Single submitter facioscapulohumeral muscular dystrophy 2
c.5052+203A>G Single submitter
c.5052+33dup Single submitter arhinia, choanal atresia, and microphthalmia
c.507+146C>T Single submitter
c.507+235_507+236del Single submitter
c.5175+22del Single submitter facioscapulohumeral muscular dystrophy 2
c.5176-208del Single submitter
c.5367-291_5367-290insCAGCTTT Single submitter
c.5477-3dup Single submitter facioscapulohumeral muscular dystrophy 2
c.5547+212T>C Single submitter
c.5720-291C>T Single submitter
c.5878+17del Single submitter facioscapulohumeral muscular dystrophy 2
c.5993+160C>T Single submitter
c.5994-224T>C Single submitter
c.638+224T>C Single submitter
c.639-122C>T Single submitter
c.639-229C>A Single submitter
c.873+196T>C Single submitter
p.Ser1697= Single submitter
p.Thr174= Single submitter facioscapulohumeral muscular dystrophy 2
c.1647+28A>G No assertion criteria SMCHD1-related disorder

Benign/Likely benign 19

c.1843-17del Multiple submitters
c.1843-17dup Multiple submitters
c.1843-18T>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1956+7C>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2147-5C>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2147-7C>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2604-7del Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2913+6C>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5878+12C>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.638+27del Multiple submitters facioscapulohumeral muscular dystrophy 2
c.638+27dup Multiple submitters facioscapulohumeral muscular dystrophy 2
c.*7A>G Multiple submitters
p.Glu473= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gly1046= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ile1173Met Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Leu107= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Leu563= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser1507= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Thr1603Ile Multiple submitters facioscapulohumeral muscular dystrophy 2

Likely benign 564

Showing the top 300 by review status; the full set is in the sitemap.

c.1132-14C>T Multiple submitters arhinia, choanal atresia, and microphthalmia
c.1132-20T>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1342+18C>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1343-15G>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1343-7G>C Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1647+252T>G Multiple submitters
c.1648-4A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1843-12dup Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1843-16A>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1843-19T>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1956+79G>A Multiple submitters
c.2063+153A>C Multiple submitters
c.2063+20G>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2260+12A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2261-18C>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2458+18A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2603+16A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2604-19A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2604-83A>G Multiple submitters
c.3049-45T>G Multiple submitters
c.3425+94C>T Multiple submitters
c.3514+61A>G Multiple submitters
c.3633+10C>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.3801+123T>C Multiple submitters
c.3802-12T>C Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4008-18C>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4166-17A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4346+163G>A Multiple submitters
c.4566+11T>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4719+14A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4719+16C>A Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5052+52A>G Multiple submitters
c.5476+16G>T Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5476+19A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5548-110T>C Multiple submitters
c.5719+10A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5879-17A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5879-20T>C Multiple submitters facioscapulohumeral muscular dystrophy 2
c.754-52C>T Multiple submitters
c.754-53G>T Multiple submitters
p.Ala975= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Asp1131= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Asp294= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln1040= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln1248= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln1284= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gln649= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Glu18Asp Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Gly15= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ile1591= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ile722= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Leu1151= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Leu433= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Lys1010= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Phe1244= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Pro1145= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Pro1294= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Pro1425= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser1418= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser811= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Thr111= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Thr401= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Tyr1179= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Val1044= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Val1373= Multiple submitters facioscapulohumeral muscular dystrophy 2
c.1040+11A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1041-11C>T Single submitter
c.1041-14C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.1041-16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.1041-17A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1041-9C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1131+16A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1131+19T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1132-13C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1132-175T>C Single submitter
c.1132-18G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1132-8T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.1342+18C>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1343-19A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1343-242G>A Single submitter
c.1343-4C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1463+14T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.1463+15T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.1463+7_1463+8dup Single submitter facioscapulohumeral muscular dystrophy 2
c.1464-15T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1464-17A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1464-7G>C Single submitter
c.1464-9C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1647+15T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.1647+16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1648-17A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1648-31A>G Single submitter
c.1842+11C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-12A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-18_1843-17insA Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-18_1843-17inv Single submitter facioscapulohumeral muscular dystrophy 2
c.1843-5A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.186+243C>G Single submitter
c.187-14C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.187-18A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.187-260C>T Single submitter
c.187-5G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.187-7T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.1956+9G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2063+14C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2063+19T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2063+7C>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2064-200del Single submitter
c.2064-8C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2147-14T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2147-16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2260+17A>C Single submitter
c.2260+20T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2260+7A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2261-12T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2261-7T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2261-96C>T Single submitter
c.2338+14C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2338+17A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2338+18A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2339-11_2339-9dup Single submitter facioscapulohumeral muscular dystrophy 2
c.2339-12T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2339-18del Single submitter facioscapulohumeral muscular dystrophy 2
c.2458+17T>C Single submitter
c.2458+19T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2458+20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2459-12T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2459-1420A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2459-19A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2459-37G>A Single submitter
c.2459-9T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2603+11G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2603+17A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2603+9A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-12T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-14T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-14T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-15A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2604-5C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.262+18C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.262+20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.263-10_263-9del Single submitter facioscapulohumeral muscular dystrophy 2
c.263-12T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.263-15C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.263-8G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2700+12G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2700+14A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2700+15T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2700+18A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-14T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-16T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2773+10T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2773+16G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2773+18A>C Single submitter
c.2773+9A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2774-108A>G Single submitter
c.2774-13A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2774-16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2774-18T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2774-211G>A Single submitter
c.2774-296G>A Single submitter
c.2913+16G>C Single submitter
c.2914-11C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.2914-312_2914-311dup Single submitter
c.3048+11_3048+13del Single submitter facioscapulohumeral muscular dystrophy 2
c.3048+17A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3048+19del Single submitter facioscapulohumeral muscular dystrophy 2
c.3048+314del Single submitter
c.3049-10C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3049-13C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3049-6T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3276+19T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3276+20T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3276+321G>A Single submitter
c.3276+8T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3277-11T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3277-13C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3277-163G>A Single submitter
c.3277-16T>C Single submitter
c.3277-231A>G Single submitter
c.3425+15_3425+17del Single submitter facioscapulohumeral muscular dystrophy 2
c.3425+16_3425+18dup Single submitter facioscapulohumeral muscular dystrophy 2
c.3425+16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3425+19T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3426-10A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3426-112T>C Single submitter
c.3426-15G>A Single submitter
c.3426-16del Single submitter facioscapulohumeral muscular dystrophy 2
c.3514+10G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3514+16T>C Single submitter
c.3514+20A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3515-13C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3515-15T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3515-5T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3633+10_3633+16del Single submitter facioscapulohumeral muscular dystrophy 2
c.3634-20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3634-27_3634-26dup Single submitter
c.3801+18T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3801+209A>C Single submitter
c.3801+9C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3802-13C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3802-19A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3802-4del Single submitter facioscapulohumeral muscular dystrophy 2
c.3802-8C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3927+16C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.3928-13G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3928-23_3928-19del Single submitter facioscapulohumeral muscular dystrophy 2
c.4007+13A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4007+19A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4007+63G>A Single submitter
c.4007+7A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4008-17_4008-15del Single submitter
c.4008-7_4008-6del Single submitter facioscapulohumeral muscular dystrophy 2
c.4165+149G>A Single submitter
c.4165+17C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4166-15C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4166-214A>G Single submitter
c.4166-7A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4166-8C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4166-9C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.424+11C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.424+12A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.424+16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.424+18A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.424+20T>C Single submitter
c.425-12G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.425-7C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4281+10G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4281+14A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4281+17A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4282-10C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4282-16C>G Single submitter
c.4282-16C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4282-8C>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4346+14C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4347-12T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4347-18A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4347-19_4347-15del Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+14T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+15T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+18A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+7T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4434+9A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4435-15C>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4435-5G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4435-5G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4566+116A>G Single submitter
c.4566+11T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4566+152C>A Single submitter
c.4566+18C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4566+20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4566+217C>G Single submitter
c.4567-19T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4567-4T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4567-85G>C Single submitter
c.4567-8G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4720-10A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4720-8A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4846+11A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4846+15A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4846+20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4847-14del Single submitter facioscapulohumeral muscular dystrophy 2
c.4966+19A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4967-13T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.4967-17T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4967-17T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4967-20T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4967-8T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5052+19C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.5052+20G>T Single submitter facioscapulohumeral muscular dystrophy 2
c.5053-10T>A Single submitter facioscapulohumeral muscular dystrophy 2
c.507+12A>C Single submitter facioscapulohumeral muscular dystrophy 2
c.507+137A>G Single submitter
c.507+16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.507+17G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.508-13T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5175+11A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5175+14A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5176-16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5176-20T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5176-40_5176-39del Single submitter
c.5176-5T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5366+10A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5366+18G>C Single submitter
c.5367-10T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5367-12C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.5367-14T>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5367-5T>C Single submitter
c.5367-7T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5476+15G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.5476+16G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.5476+9_5476+10inv Single submitter facioscapulohumeral muscular dystrophy 2
c.5476+9C>T Single submitter
c.5477-13T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5477-16T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5547+19T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5547+20T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5547+4T>C Single submitter

Uncertain significance 813

Showing the top 300 by review status; the full set is in the sitemap.

c.1648-4_1648-3delinsTT Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2260+3A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.2772_2773+2dup Multiple submitters facioscapulohumeral muscular dystrophy 2
c.3514+4A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.4966+3A>G Multiple submitters facioscapulohumeral muscular dystrophy 2
c.5175+3T>C Multiple submitters
c.5879-5_5894dup Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ala1062Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1138Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1428Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala146Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1759Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala347Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala464Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala54Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala601Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala801Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg114Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1239Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1370His Multiple submitters Inborn genetic diseases ⚠
p.Arg1409His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1506His Multiple submitters Inborn genetic diseases ⚠
p.Arg1596Gln Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1596Trp Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg164del Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg1669Leu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1694Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1761Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1762His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1762Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1795Gln Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1811Gln Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1913His Multiple submitters SMCHD1-related disorder ⚠
p.Arg1965Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1965His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1965Pro Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1972Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1991Ter Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Arg220His Multiple submitters Inborn genetic diseases ⚠
p.Arg226His Multiple submitters Inborn genetic diseases ⚠
p.Arg26Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg344Gln Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg363Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg393Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg428His Multiple submitters Inborn genetic diseases
p.Arg836His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg886Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg929Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn1082Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asn1213Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1427= Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Asn1439Ser Multiple submitters arhinia, choanal atresia, and microphthalmia ⚠
p.Asn1567Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asn1652Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn1796Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn229Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1006Glu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1146Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1233Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1399Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1786Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp1806Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1920Glu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1925Asn Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp1925Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1969Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp19His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp2004Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp435Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp636Asn Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Asp914His Multiple submitters Inborn genetic diseases ⚠
p.Cys444Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gln1106Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln1248Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln1632Glu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gln1910Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gln396Lys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Glu1849Lys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Glu37Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu721Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly10Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1385Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly1385Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly1385Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly15Trp Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly161Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly209Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly285Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly41Arg Multiple submitters ⚠
p.Gly548Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly869Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly869Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Gly887Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.His1297Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.His307Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1050Phe Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1260Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1402Asn Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1555Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile1637Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1804Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1835Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile232Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile253Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile282Met Multiple submitters Inborn genetic diseases ⚠
p.Ile332Val Multiple submitters Inborn genetic diseases ⚠
p.Ile362Met Multiple submitters Inborn genetic diseases ⚠
p.Ile376Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile608Met Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile666Val Multiple submitters Inborn genetic diseases ⚠
p.Ile74Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile82Val Multiple submitters Inborn genetic diseases ⚠
p.Ile917Asn Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ile941Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1087Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1104Phe Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1257Phe Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1265Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu1533Phe Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1533Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1799Trp Multiple submitters Inborn genetic diseases ⚠
p.Leu1909del Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Leu1933His Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Leu1971Trp Multiple submitters arhinia, choanal atresia, and microphthalmia ⚠
p.Leu911Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu954Ser Multiple submitters ⚠
p.Leu99Pro Multiple submitters ⚠
p.Lys1207Glu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Lys1367Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Lys2002Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys610Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Lys879Glu Multiple submitters Inborn genetic diseases ⚠
p.Met1121Val Multiple submitters Inborn genetic diseases ⚠
p.Met1155Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Met129Val Multiple submitters Inborn genetic diseases ⚠
p.Met1639Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Met1883Val Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Phe631Leu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Pro1016Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1023Ser Multiple submitters arhinia, choanal atresia, and microphthalmia ⚠
p.Pro1263Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Pro1595Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Pro1680Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Pro1963Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro68Ser Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1117Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1195Gln Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Ser1268Phe Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1393Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser13Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1432Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser1520Asn Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1569Leu Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1634Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser1719Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser318Thr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Ser522Arg Multiple submitters ⚠
p.Ser871Tyr Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr1008Met Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr1084Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr1116Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr111Met Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr1176Met Multiple submitters arhinia, choanal atresia, and microphthalmia
p.Thr1419Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1522Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1681Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr16Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr1979Met Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr484Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr77Arg Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Thr83Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr1347Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr1764Cys Multiple submitters ⚠
p.Tyr1800Cys Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Tyr350Phe Multiple submitters facioscapulohumeral muscular dystrophy 2
p.Val1036Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1199Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val1457Leu Multiple submitters Inborn genetic diseases ⚠
p.Val1534Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val162Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val422Ile Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val423Ala Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val615Gly Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val678Asp Multiple submitters facioscapulohumeral muscular dystrophy 2 ⚠
p.Val982Ala Multiple submitters Inborn genetic diseases ⚠
c.1647+7T>A Single submitter
c.1648-3C>T Single submitter
c.1956+3A>G Single submitter
c.2064-20A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2146+4T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2147-4A>C Single submitter
c.2260+6T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.2261-21TTTCTTT[3] Single submitter
c.2339-3C>G Single submitter
c.2458+3A>C Single submitter
c.2459-2_2465dup Single submitter facioscapulohumeral muscular dystrophy 2
c.262+4G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.2701-4A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2773+6A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.2914-5A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3048+3A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.3425+10C>A Single submitter
c.3425+5G>C Single submitter facioscapulohumeral muscular dystrophy 2
c.3514+5G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3927+2dup Single submitter facioscapulohumeral muscular dystrophy 2
c.3927+5G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.3927+6T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4008-3T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.4165+3G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.4166-1G>T Single submitter
c.4719+1G>A Single submitter
c.4719+4A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.4847-1G>T Single submitter
c.5052+16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5052+4C>T Single submitter facioscapulohumeral muscular dystrophy 2
c.508-17C>A Single submitter
c.508-5C>T Single submitter
c.5175+7G>A Single submitter
c.5176-8G>A Single submitter facioscapulohumeral muscular dystrophy 2
c.5366+4A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5366+5G>T Single submitter
c.5366+6A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5367-16A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5476+3A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.5548-3T>C Single submitter facioscapulohumeral muscular dystrophy 2
c.5878+3A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.5878+9T>C Single submitter
c.5879-3C>T Single submitter
c.638+4A>T Single submitter facioscapulohumeral muscular dystrophy 2
c.753+10_753+11del Single submitter
c.753+3A>G Single submitter facioscapulohumeral muscular dystrophy 2
c.873+6A>G Single submitter facioscapulohumeral muscular dystrophy 2
p.452EDD[1] Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala1086Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1255Ser Single submitter ⚠
p.Ala12Asp Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala12Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1325Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1334Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1345Thr Single submitter Inborn genetic diseases ⚠
p.Ala1379Thr Single submitter ⚠
p.Ala1379Val Single submitter facioscapulohumeral muscular dystrophy 2
p.Ala1428Pro Single submitter ⚠
p.Ala146Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1539Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1760Val Single submitter ⚠
p.Ala1810Pro Single submitter ⚠
p.Ala1842Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1843Thr Single submitter ⚠
p.Ala1893Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala1915Ser Single submitter ⚠
p.Ala198Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala408Thr Single submitter Inborn genetic diseases ⚠
p.Ala4Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala501Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala512Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala54Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala601Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala601Val Single submitter Inborn genetic diseases ⚠
p.Ala674Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala674Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala677Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala711Thr Single submitter Inborn genetic diseases ⚠
p.Ala805Val Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala867Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala890Thr Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala946Pro Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Ala962Val Single submitter ⚠
p.Arg1012Ile Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1122His Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1220Lys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1324Lys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1324Ser Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1370Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1409Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1409Leu Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1506Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg158Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg158Pro Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg164Ile Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1708= Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg1762Cys Single submitter Inborn genetic diseases ⚠
p.Arg1866Gln Single submitter ⚠
p.Arg1887Gln Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1913Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg1995Gly Single submitter Inborn genetic diseases ⚠
p.Arg220Pro Single submitter ⚠
p.Arg226Cys Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg251= Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg428Leu Single submitter ⚠
p.Arg50Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg50Gly Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg57Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg688= Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg692Gly Single submitter Inborn genetic diseases ⚠
p.Arg692Lys Single submitter Inborn genetic diseases ⚠
p.Arg807_Pro808delinsSerThr Single submitter facioscapulohumeral muscular dystrophy 2
p.Arg807Lys Single submitter ⚠
p.Arg836Cys Single submitter facioscapulohumeral muscular dystrophy 2 ⚠
p.Arg836Leu Single submitter Inborn genetic diseases ⚠