Sugi Variant

Sugi Variant/PLEC

PLEC — 6434 ClinVar variants

All ClinVar germline PLEC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1961 flagged for review →

103 Pathogenic · 9 Pathogenic/Likely pathogenic · 46 Likely pathogenic · 648 Conflicting · 147 Benign · 137 Benign/Likely benign · 1768 Likely benign · 3576 Uncertain significance

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

⚑ Evidence disagreements 1961

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 2

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

Predictors agree, ClinVar conflicts 186

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 186

Predictors lean, ClinVar uncertain 1628

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 1628

Predictors split 145

The independent predictors disagree with each other — read with care.

All PLEC variants

Pathogenic 103

  • p.Arg1973Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg2027Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2292Ter Multiple submitters PLEC-related disorder
  • p.Arg2324Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2394Ter Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg559Ter Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asn489fs Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1730Ter Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gln2304Ter Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Glu3188fs Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser2696fs Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.7425+1G>A Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2655fs Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1559Ter Single submitter
  • p.Arg179Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2438Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg3002Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3008Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg4140Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg4310fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg690fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg806fs Single submitter
  • p.Asp3202fs Single submitter
  • p.Asp826Ter Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Gln114fs Single submitter
  • p.Gln1292Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln13Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln145Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln150Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1512Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln1532Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln1536Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln1635Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1724Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln1897Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln1909Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln2066fs Single submitter
  • p.Gln2124Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2154fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2180Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2222Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2288Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2432Ter Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gln2511Ter Single submitter
  • p.Gln3196Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln3452Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln3525Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln835Ter Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln875Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gln974Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu1325Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu1358Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu1734Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu1882fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu1925fs Single submitter
  • p.Glu1978Ter Single submitter
  • p.Glu2009fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2185Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2360Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2446Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2926fs Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu3032Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu3099fs Single submitter epidermolysis bullosa simplex
  • p.Glu3099Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu3568Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu4123Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu4147fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu4173Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Glu973Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Gly44fs Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.His2170fs Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu1732fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2502fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2788fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Leu317fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Leu508fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Lys1888fs Single submitter epidermolysis bullosa simplex
  • p.Lys4433Ter Single submitter
  • p.Phe2945fs Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser3763fs Single submitter
  • p.Ser4369Ter Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr3730fs Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Trp318Ter Single submitter epidermolysis bullosa simplex 1A, generalized severe
  • p.Trp704Ter Single submitter
  • p.Trp839Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Tyr3105fs Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Tyr4067Ter Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Tyr777fs Single submitter
  • p.Val398fs Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val851fs Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2600_2612+1del No assertion criteria epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1675fs No assertion criteria epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln2030Ter No assertion criteria epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln278Ter No assertion criteria epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gln469Ter No assertion criteria junctional epidermolysis bullosa with pyloric atresia
  • p.Glu3988fs No assertion criteria epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu819Ter No assertion criteria epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu1912fs No assertion criteria epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu1928fs No assertion criteria epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu292del No assertion criteria epidermolysis bullosa simplex with nail dystrophy
  • p.Leu292Pro No assertion criteria epidermolysis bullosa simplex with nail dystrophy
  • p.Ser421= No assertion criteria epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Trp909Ter No assertion criteria epidermolysis bullosa simplex with nail dystrophy

Pathogenic/Likely pathogenic 9

  • p.Arg1490Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1419Ter Multiple submitters
  • p.Gln1591Ter Multiple submitters PLEC-related disorder
  • p.Gln2073Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln2717Ter Multiple submitters PLEC-related disorder
  • p.Gln3001Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln414Ter Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Tyr22Ter Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Tyr2997Ter Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia

Likely pathogenic 46

Conflicting classifications of pathogenicity 648

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

  • c.112+3A>G Single submitter
  • c.113-6C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.1263+8G>A Single submitter limb-girdle muscular dystrophy
  • c.1418+10G>C Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.1737+11C>G Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.1737+9C>T Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.1738-3C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.1738-9C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.174+10del Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • c.174+10G>A Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.1816-7C>G Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.1977+6C>T Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • c.1977+7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2178+10G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2458-7G>A Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2458-8C>T Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.2613-12C>G Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2613-4C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2613-7C>G Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.264+4C>T Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.265-9T>G Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2739+4C>T Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • c.3081+9C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.342+7C>T Single submitter PLEC-related epidermolysis bullosa
  • c.4044+9C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.70+2T>C Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.71-11519C>T Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • c.71-11599T>C Single submitter ⚠
  • c.71-11710G>T Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.71-11768C>T Single submitter
  • c.719-20T>G Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.7426-13TCT[2] Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.946-6T>C Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • c.-20CGCGCCC[3] Single submitter
  • p.863QEA[1] Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1024Thr Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1148Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1182Thr Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1226Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1291= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1363= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1378= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1407Val Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala1411= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1431= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1442= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1482= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1496= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1527= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1528= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1576= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1576Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1586= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1641= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1660= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1660Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1705= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1743Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala1772Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala1824Val Single submitter Inborn genetic diseases
  • p.Ala1829= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1836Val Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1840= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1852= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1852Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1855Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1861Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1870= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1885= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1929= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1932= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1932Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1937= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1977Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1995= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2006= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2021Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2033= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2083= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2083Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala2089= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2089Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala2093= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2104= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2105Met Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2105Thr Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala2133= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2142= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2155Val Single submitter Inborn genetic diseases
  • p.Ala2162= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2214= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2219= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala226= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2280= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2281= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2281Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2318= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2329= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2354= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2354Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2410Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2423Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2490Pro Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala2555= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2562= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2607= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2608Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2608Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2610= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2637= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2661= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2673Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2714Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala2734= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2734Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2844Val Single submitter Inborn genetic diseases ⚠
  • p.Ala2912= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2912Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2983= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2984= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala301Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3027= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3056Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala3071Thr Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala3074Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala3098= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3136Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3159Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala3176= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3180Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3310Val Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala3358= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala3386= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3386Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala3391Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3393Val Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala3429Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3503= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3546Val Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3566Val Single submitter Inborn genetic diseases ⚠
  • p.Ala3679= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3679Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala3693Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3764Val Single submitter Inborn genetic diseases
  • p.Ala3785= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3805= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3880Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala4224Gly Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala4240Thr Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala4261= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4261Thr Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala428Val Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala4314= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4335= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala435Val Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala4371Thr Single submitter junctional epidermolysis bullosa with pyloric atresia
  • p.Ala4383= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala445= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4467= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala4487Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala4532= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4532Thr Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala497= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala585Thr Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala610= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala653Thr Single submitter Inborn genetic diseases
  • p.Ala755Thr Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala868= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala925= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala943= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1042Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1096Cys Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1096His Single submitter Inborn genetic diseases ⚠
  • p.Arg1178Gln Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg1207Leu Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1213= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1228Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1229= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1245Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1260= Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1320Cys Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1359= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1359His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1373Trp Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1416His Single submitter Inborn genetic diseases ⚠
  • p.Arg1438Gln Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg1455His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1490Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1498= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1529= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1529His Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1542= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1551His Single submitter Inborn genetic diseases ⚠
  • p.Arg1559Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1572His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1613= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1633His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1671= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1675Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg179= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1797= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1797Cys Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1807His Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1815Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1847Gln Single submitter Inborn genetic diseases
  • p.Arg1868Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1878Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1878Trp Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1921Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1960His Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1981Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1981Trp Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1983His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1984His Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2004= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2013Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2013Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2022= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2022Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2080= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2088Trp Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg2116= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg212Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg2139His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg2179Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2282Gln Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg2324Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2344Gln Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg2345Gln Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg2366= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2366Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg2374Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2398= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2407Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg2447Cys Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2457Cys Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg2457Pro Single submitter autosomal recessive limb-girdle muscular dystrophy
  • p.Arg2531His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg2545Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2547Trp Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2556Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2556Gly Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2556Trp Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2567= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg2568His Single submitter Inborn genetic diseases ⚠
  • p.Arg2581Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg2581Trp Single submitter epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg264= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2651Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2684Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg2689Cys Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg2689His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg2772= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2772His Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2831Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg2832= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2841= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2949Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2971Gln Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg2978Cys Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg2994His Single submitter Inborn genetic diseases ⚠
  • p.Arg3008Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3017Trp Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg3106Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg3198Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3231His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg3299Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3309His Single submitter PLEC-related disorder
  • p.Arg3348Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3377Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3403Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3403Trp Single submitter Inborn genetic diseases
  • p.Arg3500Cys Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg3500His Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg3539Cys Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg3798= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3813Cys Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg3813His Single submitter PLEC-related epidermolysis bullosa ⚠
  • p.Arg3826Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg3854= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3865His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg3866His Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg3881Cys Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3886His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg3912Gln Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg4069= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg4128Gln Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg4159Cys Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg4223= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg4329Cys Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg4348= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg4414= Single submitter Inborn genetic diseases
  • p.Arg4414Cys Single submitter epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg4414His Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg4490= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg4503= Single submitter autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg559Gln Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg587Gln Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Arg746His Single submitter epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg797= Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy

Benign 147

  • c.1042-93G>A Multiple submitters
  • c.112+173G>A Multiple submitters
  • c.112+203C>A Multiple submitters
  • c.1169+43T>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.1264-15G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.1418+40C>T Multiple submitters
  • c.174+22G>A Multiple submitters
  • c.174+22G>C Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.174+50C>T Multiple submitters
  • c.175-58T>C Multiple submitters
  • c.175-6C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.1815+10G>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.1815+13A>G Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2178+9C>G Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2304+9dup Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2457+6C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2613-7C>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.265-16C>G Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2923+37C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.3261-123T>C Multiple submitters
  • c.3261-13G>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.3400-42G>A Multiple submitters
  • c.342+13G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.3757-6A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.3840+48A>G Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.3841-18C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.3841-51A>T Multiple submitters
  • c.3841-57C>T Multiple submitters
  • c.3841-62A>G Multiple submitters
  • c.4044+54T>C Multiple submitters
  • c.4044+62A>G Multiple submitters
  • c.4045-169C>T Multiple submitters
  • c.4045-4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.436-123T>C Multiple submitters
  • c.603-112T>G Multiple submitters
  • c.603-129T>C Multiple submitters
  • c.71-15012C>G Multiple submitters
  • c.71-15138C>T Multiple submitters
  • c.71-6217G>T Multiple submitters
  • c.718+10C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.7425+37C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.7426-35C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.946-33C>G Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.-7+15G>T Multiple submitters
  • c.*10C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.*19C>T Multiple submitters
  • p.Ala1239= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala126= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1471= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1492= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1560= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1772= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1861= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1955= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1969= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1976= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2057Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2105Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2147= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2370= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2527= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2773= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala3136= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala3971= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala4487= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala504Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala850Thr Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1064= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1361= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1388Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg9Gln Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Asn2751= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp2940Glu Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp365= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp3867= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp3867His Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp4187= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gln739= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Glu1126= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gly3141= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gly944= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.His1322Arg Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile2247= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu1184= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu2422= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu2576= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu3538= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro3736= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Pro3876= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser155= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser2654Pro Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser3315= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser4271= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr3349Met Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr3555= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr3662= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr3907Met Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Thr3962= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr4416= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Tyr3640= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val3322= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val3338= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val4262Ile Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.1042-83G>T Single submitter
  • c.113-311dup Single submitter
  • c.1170-15G>A Single submitter
  • c.1737+13G>A Single submitter
  • c.174+113C>T Single submitter
  • c.1816-15C>T Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2083-40GGGGC[4] Single submitter
  • c.2179-15del Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.2304+252A>G Single submitter
  • c.2304+261A>G Single submitter
  • c.2304+6G>A Single submitter
  • c.2305-240A>G Single submitter
  • c.264+113C>T Single submitter
  • c.3081+19del Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3081+19dup Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3400-6C>T Single submitter
  • c.3757-18G>A Single submitter
  • c.3946-4A>G Single submitter
  • c.4044+143C>T Single submitter
  • c.4044+212C>T Single submitter
  • c.4044+37C>T Single submitter
  • c.4045-269G>A Single submitter
  • c.4045-26TCT[2] Single submitter epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.4045-35C>T Single submitter
  • c.436-141C>T Single submitter
  • c.436-153G>A Single submitter
  • c.436-163A>G Single submitter
  • c.436-298C>T Single submitter
  • c.602+10C>T Single submitter
  • c.602+130C>T Single submitter
  • c.70+12dup Single submitter epidermolysis bullosa simplex with nail dystrophy
  • c.70+14682C>T Single submitter
  • c.70+278G>A Single submitter
  • c.71-11263A>C Single submitter
  • c.71-12438G>A Single submitter
  • c.71-14783CGG[10] Single submitter
  • c.71-6355_71-6331dup Single submitter
  • c.826-33C>G Single submitter
  • c.-7+77C>G Single submitter
  • p.Gln967His Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2865Val Single submitter
  • p.Pro465= Single submitter epidermolysis bullosa simplex with nail dystrophy
  • p.Ser84= Single submitter epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val2815= Single submitter

Benign/Likely benign 137

  • c.1042-4A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2083-20C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2178+9C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2305-10del Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2305-11del Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2612+18A>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2740-45G>T Multiple submitters
  • c.3756+13C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3757-9A>G Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.4044+16C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.602+12C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.71-11512C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.71-11718C>T Multiple submitters
  • c.71-11923G>A Multiple submitters
  • c.71-5077G>T Multiple submitters
  • c.7425+16C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.945+18G>C Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.945+19dup Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1117= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1367= Multiple submitters Inborn genetic diseases
  • p.Ala1407= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1408Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1545= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1548= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1618= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1620= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1743= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1831= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1836= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1885Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2007= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2100= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2104Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2146= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2152= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2253Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2343= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2673= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala3034Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala3432= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3610= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala428= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala4370= Multiple submitters junctional epidermolysis bullosa with pyloric atresia
  • p.Ala4468Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1064His Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1228Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1245= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1249= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1260Gly Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1533Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1676= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1826Gln Multiple submitters junctional epidermolysis bullosa with pyloric atresia
  • p.Arg1826Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2023= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2651Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2671Gln Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg2684Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg285Gln Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg296Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3299Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg3309Cys Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg4009= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg569Gln Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asn3499= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp2164= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp267= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp2680= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Asp3145= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp4448= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gln1974His Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Gln2106= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu1625Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu1924Asp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Glu2020Ala Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu2136= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu2837Lys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu543Asp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu848= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gly2675= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gly3321Arg Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gly3353Ala Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gly3416= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ile1891= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile2452= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile2728Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ile2810Met Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ile2959= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ile2992= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile3980= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile4183= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu1689= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu1694= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu1768= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2243= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu2502= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu3587= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu412= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu4450= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu886= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Lys1290Arg Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Lys2052= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Lys2169= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Lys2171= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Lys58Glu Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Phe307= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Phe3117= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro2875= Multiple submitters Inborn genetic diseases
  • p.Pro3211= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Pro3401= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Pro3420= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro3998= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro4120= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro4273Ser Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro584= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Pro836= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser1057= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ser1904= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ser3259= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser3306= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser3446= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser4525= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser608= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser987= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr1070= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Thr1722Met Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Thr2420= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr3517= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr4402Met Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr458= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr652= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Tyr2777= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Tyr2830Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Val1181= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Val1456Met Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Val3025Ile Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Val3114= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Val4332= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia

Likely benign 1768

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

  • c.1041+12C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.113-14C>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.1169+18G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.1418+14T>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.1418+19T>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.1737+17G>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.1738-17C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.175-20A>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.1815+18del Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2082+15G>T Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.2083-19G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2083-20C>G Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.2083-6C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2179-10G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2304+12G>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2305-156C>T Multiple submitters
  • c.2305-15G>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.2305-19T>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.2457+13C>T Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.2457+7G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2458-18C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2612+10G>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2613-19T>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.264+148C>T Multiple submitters
  • c.265-20C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.2739+18C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2739+19C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2739+20G>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2924-20G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3081+10G>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.3081+12C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3081+17C>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3081+18C>G Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.3081+19C>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3081+19C>G Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3260+18C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.3261-117C>A Multiple submitters
  • c.3261-11T>C Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.3261-17C>T Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.3261-5G>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.3399+10C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.3400-26G>A Multiple submitters
  • c.342+12C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.343-19G>C Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.343-8G>A Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.343-9C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3756+32G>A Multiple submitters
  • c.3757-7C>T Multiple submitters
  • c.3840+13C>T Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.3840+14G>A Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.3945+12C>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.4044+10G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.602+17G>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.602+5A>G Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.71-11710G>A Multiple submitters
  • c.718+17T>G Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.7426-15C>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.825+16G>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.826-19C>T Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.945+14G>T Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • c.945+20C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.*286C>T Multiple submitters
  • p.Ala1193= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1272= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1485= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1513= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1523= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1570= Multiple submitters Inborn genetic diseases
  • p.Ala1583= Multiple submitters
  • p.Ala1623= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1648= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1652= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1679= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1701= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1710= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1720= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1744= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1791= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1793= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1803= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1820= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1824= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1855= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1884= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1938= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala1970= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1977= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2000= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2021= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2028= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2049= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2105= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2142Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2182= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2249= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2253= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2286= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2306= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2339= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2410= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2445= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2608= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2622= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2666= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala301= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3230= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3264= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3393= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3412= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3415= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3429= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala349= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala3717= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala3767= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3969= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4010= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala405= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4210Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala4224= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala4240= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala4468= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala4499= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala59= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala790= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala811= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala849= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1200= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1228= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1343= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1551Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1582= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1815Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1989= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg2013= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg2128Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg2139= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg2252= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg2282= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg2994= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3151= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg3267Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg3275= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg3482= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg3491= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg4060= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg4405= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg901= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp1225= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp1410= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp189= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp1957= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Asp2206= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp237= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asp2687= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asp2836= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Asp3009= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp3079= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Asp3340= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Asp3848= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asp3868= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Asp4204= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Asp4334= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asp4507= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Asp455= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Asp69= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp769= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Asp902= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Asp942= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Cys3356= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1617= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gln1727= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln1991= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln2003= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gln2529= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gln2809= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Gln3468= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu1025Lys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu1420= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu1558= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Glu1611= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu1752= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu1945= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu2062= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu2103= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2248= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2465= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Glu2838Lys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu3093= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Glu3496= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Glu4074= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Glu516= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gly1949= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Gly2363= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Gly2813= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gly3419= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gly3472= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Gly3577= Multiple submitters Inborn genetic diseases
  • p.Gly3731= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gly3815Arg Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gly4089= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Gly4384= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gly4534= Multiple submitters
  • p.Gly541= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Gly779= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.His2170= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.His2801= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.His3410= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.His3423= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.His3460= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.His3758= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.His478= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ile1023= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ile125= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ile196= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ile2816= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ile3626= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ile4053= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ile4398= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Leu132= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu1709= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu1866= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu2387= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2485= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu2664= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Leu2894= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu2977= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu3154= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu3357= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu3407= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Leu3455= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Leu3714= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu4022= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Leu4022Phe Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu4025= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu4312= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu4388= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu4435= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Leu555= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Leu665= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Lys2416= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Phe1146= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Phe1336= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Phe1585= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Phe1934= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Phe2173= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Phe2854= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Phe3653= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Phe856= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Pro246= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Pro2636= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Pro266= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Pro2723= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro2913= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro3070= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro3238= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Pro3242= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro363= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro3698= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro4257= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro4260= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Pro6= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Pro89= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser1065= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser1338= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser1507= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser1778= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser1782= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser2120= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser2379= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser256= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ser257= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser3172= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser3320= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser3346= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ser3681= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser3763= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ser3781= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser3850= Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ser3900= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ser3917= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ser4006= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser4186= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ser4199= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser4245= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser4369= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser4521= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ser645= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr1145Met Multiple submitters Inborn genetic diseases
  • p.Thr1195= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Thr1288= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr1330= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr1850= Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Thr2217= Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Thr233= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr2775= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr2909= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr3077= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr3103= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Thr3140= Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Thr3336= Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy

Uncertain significance 3576

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

  • c.1418+5G>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.2082+6G>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2739+5G>A Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.2740-3C>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • c.3399+5C>T Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • c.435+3A>T Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • c.71-11602G>A Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • c.718+5G>A Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • c.7426-3C>T Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.1943EL[2] Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1029Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1041Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1045Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1059Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala106Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala10Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1148Ser Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1156Glu Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1221Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1221Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala1368Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1378Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1382Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1390Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1411Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1411Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala1431Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1442Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1482Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1492Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1513Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1528Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1545Ser Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1555Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1566Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1570Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1574Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1614Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1618Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala1641Val Multiple submitters Inborn genetic diseases
  • p.Ala1648Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1652Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1658Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1679Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1711Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1711Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1743Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1758Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1762Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1791Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala1793Gly Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1804Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1810Val Multiple submitters Inborn genetic diseases
  • p.Ala1824Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala1825Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1840Thr Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala1841Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala1929Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala1937Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala1939Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala1942Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala1955Thr Multiple submitters Inborn genetic diseases
  • p.Ala1955Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala195Asp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala195Val Multiple submitters ⚠
  • p.Ala1970Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala1970Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala1976Thr Multiple submitters Inborn genetic diseases
  • p.Ala1995Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2001Ser Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2001Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2006Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala2007Val Multiple submitters Inborn genetic diseases
  • p.Ala2028Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2033Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2039Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2043Ser Multiple submitters Inborn genetic diseases
  • p.Ala2043Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2049Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2055Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2057Met Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2057Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2083Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2085Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2093Val Multiple submitters Inborn genetic diseases
  • p.Ala2100Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2129Ser Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2131Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2133Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2146Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2147Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2152Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2162Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2163Gly Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2165Thr Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2165Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2174Thr Multiple submitters Inborn genetic diseases
  • p.Ala2182Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2216Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2220Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2220Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2253Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala2270Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala2277Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2281Val Multiple submitters Inborn genetic diseases
  • p.Ala2286Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2290Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2291Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2302Thr Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala2308Gly Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2318Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2329Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2329Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala2343Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala2358Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2380Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2399Thr Multiple submitters Inborn genetic diseases
  • p.Ala2445Val Multiple submitters
  • p.Ala2453Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2490Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala2514Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2555Val Multiple submitters Inborn genetic diseases
  • p.Ala2610Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala261Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala2637Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2637Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2666Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2683Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2705Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2715Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2732Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala2773Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala2791Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala2811Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3027Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3043Thr Multiple submitters Inborn genetic diseases
  • p.Ala3043Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3074Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala3081Thr Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala3101Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3157Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala3178Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3230Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3264Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala3314Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala334Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3358Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3415Val Multiple submitters Inborn genetic diseases
  • p.Ala3470Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3488Thr Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala349Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3546Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3649Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala3655Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3676Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3682Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala3717Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala3767Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3796Asp Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala3805Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala3908Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala3936Thr Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala3942Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala3969Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Ala4048Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala405Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala4208Thr Multiple submitters Inborn genetic diseases
  • p.Ala4224Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala4268Ser Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala4314Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala4371Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4422Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4449Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Ala4468Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala4499_Arg4502del Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4499Val Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Ala4508Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala4547Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala497Val Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala498Gly Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala542Thr Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Ala553Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala585Pro Multiple submitters Inborn genetic diseases
  • p.Ala585Ser Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala59Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala625Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala660Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala698Val Multiple submitters Inborn genetic diseases
  • p.Ala722Val Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Ala734Gly Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Ala744Val Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Ala865Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Ala874Gly Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Ala874Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala943Thr Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Ala943Val Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1002Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1002His Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1006Cys Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1006His Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1008Gln Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1017Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1017Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1042Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1064Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1106Gly Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg111Gln Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1136Gln Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1136Trp Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg113Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1150Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1150Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1154Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg1162Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1166Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1166Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1170Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1176Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1176His Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1180Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1187Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1187His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1200Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1207Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1210Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1210His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1213Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1213His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1229Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1229Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1260Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1342Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1342Trp Multiple submitters Inborn genetic diseases
  • p.Arg1343Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1343His Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1349Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1359Cys Multiple submitters Inborn genetic diseases
  • p.Arg1373Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1396Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1396His Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1403Gln Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1404Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1404Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1416Cys Multiple submitters epidermolysis bullosa simplex 5A, Ogna type ⚠
  • p.Arg1426Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1438Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1445Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1447Trp Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1449His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1449Ser Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1455Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1458Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1458His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1458Leu Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1466Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1466His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1468His Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1479Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1479Gly Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1481Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1481Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1498Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1500Gln Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1509Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1509His Multiple submitters junctional epidermolysis bullosa with pyloric atresia ⚠
  • p.Arg1511Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1520Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1529Cys Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1533Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1542Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1550Gln Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q ⚠
  • p.Arg1550Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1553Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1553Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1561Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1582Cys Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1582His Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1594Cys Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1607Gln Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1607Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1612Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1612Trp Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1613Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia ⚠
  • p.Arg1622Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1622Trp Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1624Cys Multiple submitters epidermolysis bullosa simplex 5C, with pyloric atresia
  • p.Arg1624His Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1629_Glu1630insAlaArgGluGluAlaGluArg Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Arg1629Gln Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1629Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1633Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy ⚠
  • p.Arg1633Leu Multiple submitters epidermolysis bullosa simplex with nail dystrophy ⚠
  • p.Arg1643Trp Multiple submitters epidermolysis bullosa simplex 5A, Ogna type
  • p.Arg1645Trp Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1671His Multiple submitters epidermolysis bullosa simplex with nail dystrophy
  • p.Arg1674Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1674Trp Multiple submitters autosomal recessive limb-girdle muscular dystrophy type 2Q
  • p.Arg1675Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1676Cys Multiple submitters epidermolysis bullosa simplex 5B, with muscular dystrophy
  • p.Arg1676His Multiple submitters Inborn genetic diseases ⚠