SYNE2 — 4742 ClinVar variants

Pathogenic 2

• p.Gln5385Ter Single submitter cerebral palsy
• p.Tyr990Ter Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Likely pathogenic 10

• c.990_990+4del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg1466Gln Single submitter ⚠
• p.Asn1362fs Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln1488Ter Single submitter
• p.Lys3095fs Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys5178fs Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2253Ter Single submitter
• p.Thr2264fs Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val6636fs Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser4835fs No assertion criteria Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Conflicting classifications of pathogenicity 331

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

• c.11023-5C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11164-4C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12108+10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12109-10_12109-7del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12307-5T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12381+6G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13917+10C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-6T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14139+5G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14844-8C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16094+4T>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16480-10C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16605+10A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16605+9A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16760+6A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16905+4A>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19402+10C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19402+8C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20383-15G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.237+6A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2472+5C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.3480+9del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.4398-11T>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6404+5A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6880-4G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.7643+6T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.9745-9A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala1044Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala1665Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala2382Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala2954Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala3050Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala3084= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala3277Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala4098Asp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala4219Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala4246= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4314= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5007= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala533Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala5399Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala5460Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala5540Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala5944= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala6064Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala6078Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala6279Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala6398= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala6585Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala6603Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala6721Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala833Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ala864Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg1169His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg1222Trp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg1277His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg1393Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg2249Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg2345Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg2365Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg2434Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg2659Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg3231Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg3260Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg3887Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4101Trp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4509His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4636Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4688Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4827His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg4894Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5149Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5149His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5573Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg5585His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5667= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg5714His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5755Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg5908His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6184Trp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6208Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6214Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6345Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6379Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6379His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6381Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6659Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6780Leu Single submitter SYNE2-related disorder ⚠
• p.Arg6821Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6848Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Arg6856Trp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn2437Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn2925= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn385Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn4187Ile Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn5073Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn6363Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn6568Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn685Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn826Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn889Asp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp118Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp20Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp229Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp4127Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp415Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp4212Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp4419Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp5283Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp5438Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp5619Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp6088= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6280Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp6481His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asp6714Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Cys1399Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys2337Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Cys3464= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys3775Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Cys4829Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Cys5815Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln1013= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln2113Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln2971Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln2997= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln3167His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln3771His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln4051Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln4220= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln4386Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln4386Ter Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln4504Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln5048Glu Single submitter spastic ataxia ⚠
• p.Gln5055= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln5078= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln5376Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln5458His Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln5897= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln6199Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln6655Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln6747Pro Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln732Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gln801Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu2388Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu2570Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu2878Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu2897Asp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu2957Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu3030Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu3234Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu4116Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu4189= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu4311Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu4496Ala Single submitter ⚠
• p.Glu4524Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu4598Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu483Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu5191Gly Single submitter ⚠
• p.Glu5434= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu5444del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu5638Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu5847Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu5928= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6402Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Glu6735Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6879Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu767Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly3436Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly372Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly4191Asp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly4301= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly4696= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly6542Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly6546Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly6678Ala Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Gly6842Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His1295= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His1741Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His1835Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His3309Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His416Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His440Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His5363Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.His6005= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His6220= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His6489Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile1193Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile1408Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile2405Lys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile2494Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile2842Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile2991Val Single submitter ⚠
• p.Ile3101Met Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile3168Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile3206= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile3592Met Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile4286Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile4858Met Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile5011Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile5373Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ile5647Ser Single submitter ⚠
• p.Ile6131= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile6583Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu1178= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu140Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1682Pro Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu1945= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1996Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2171Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2229Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2668Trp Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2796Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2856Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu2969Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu3105Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu3144Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu3406Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu4196Pro Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu4459= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5310= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5386Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu57= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5941= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu618Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu6321= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6576= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6851Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu6864Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu757Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys1475Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys174Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys1859Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys1965Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys2200Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys2561Ter Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys3047Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys3135Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys3262Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys3499Gln Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys4691Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys4931Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys4944Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys5230Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys5632Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Lys6527Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met1719Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met2690Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met303Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met3649Ile Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met406Ile Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met4550Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met4747Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met5106Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Met766Val Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe1616Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe3233Ser Single submitter ⚠
• p.Phe3845Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe4019Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe4843Tyr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe4994Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Phe5534Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro1972Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro2222Ala Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro3077Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro4225Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro4232Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro4473Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro5469Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro5531Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro6501Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro6799Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro6846Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Pro709Ser Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser1034= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser1237Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser1870Arg Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser2497Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser2853Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser3444Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser3587Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser3683Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser3843Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser4718Thr Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser4995Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser5010Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser5259Asn Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser5720Gly Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser6105= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6441= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6808Leu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser6878Glu Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser778Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser853Cys Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Ser888Phe Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Thr1079Ala Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Thr2555Met Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Thr2669Ala Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Thr3498= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr3504Ala Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Thr4063= Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Benign 378

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

• c.10067+110G>A Multiple submitters
• c.10068-97T>G Multiple submitters
• c.10212+178A>T Multiple submitters
• c.10213-43A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10431+46T>A Multiple submitters
• c.10432-38A>C Multiple submitters
• c.10432-68T>G Multiple submitters
• c.10697+29G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10866+102C>T Multiple submitters
• c.11022+54G>A Multiple submitters
• c.1128+88G>A Multiple submitters
• c.11347-101C>G Multiple submitters
• c.11347-29C>G Multiple submitters
• c.11485-123G>A Multiple submitters
• c.11485-301G>A Multiple submitters
• c.11671-21T>C Multiple submitters
• c.11794-17C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12109-102G>A Multiple submitters
• c.12109-140C>T Multiple submitters
• c.12307-230C>T Multiple submitters
• c.12381+136A>C Multiple submitters
• c.12381+43T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12382-14G>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+37G>A Multiple submitters
• c.12493-69C>A Multiple submitters
• c.12609+16T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12840+8T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1294-67T>C Multiple submitters
• c.13023+18A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13280+3A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13281-47A>C Multiple submitters
• c.13423-7C>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13554+40C>T Multiple submitters
• c.14020-15T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1406+141G>A Multiple submitters
• c.14341-47G>T Multiple submitters
• c.14646+124A>G Multiple submitters
• c.14844-5G>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14976+78A>T Multiple submitters
• c.15793-19G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-98C>T Multiple submitters
• c.16605+87C>T Multiple submitters
• c.16606-261C>T Multiple submitters
• c.17556+4T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17713-107C>T Multiple submitters
• c.18201+90C>T Multiple submitters
• c.18389+232C>T Multiple submitters
• c.18390-48A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18861+73T>C Multiple submitters
• c.19056+24T>C Multiple submitters
• c.19057-199A>G Multiple submitters
• c.19057-64A>G Multiple submitters
• c.19333+5C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19402+322A>C Multiple submitters
• c.19403-320G>A Multiple submitters
• c.19658-96T>G Multiple submitters
• c.19860+79A>G Multiple submitters
• c.20062-119G>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20383-13G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20383-80G>C Multiple submitters
• c.20469+191C>G Multiple submitters
• c.20469+55A>G Multiple submitters
• c.20470-74G>C Multiple submitters
• c.20516+90C>T Multiple submitters
• c.2152-50T>G Multiple submitters
• c.2314-20A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2314-50G>A Multiple submitters
• c.2472+154G>A Multiple submitters
• c.2473-22T>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2647-3dup Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2940+151G>T Multiple submitters
• c.2940+87A>C Multiple submitters
• c.316-21C>T Multiple submitters
• c.3243+127C>A Multiple submitters
• c.3786+119G>A Multiple submitters
• c.4397+89C>A Multiple submitters
• c.4577+181C>T Multiple submitters
• c.4578-4T>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.5637+12A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.5637+13T>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.5637+98A>G Multiple submitters
• c.590+90A>G Multiple submitters
• c.591-45G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6405-41C>T Multiple submitters
• c.6879+95G>C Multiple submitters
• c.7377+202G>A Multiple submitters
• c.7643+9A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.788-89A>G Multiple submitters
• c.79+40G>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.80-157C>G Multiple submitters
• c.889-16T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.9744+41G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.990+10A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.990+51C>T Multiple submitters
• c.990+52G>A Multiple submitters
• c.-224C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.-52+9G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*103G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*133C>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*221T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*300G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*386G>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*461C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*581G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*662T>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.*663A>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala2284Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala2347Glu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala2395Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4907Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5240= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala6701= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg1393Trp Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg3399His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn2633Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn3130Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn3982His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn4199Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn4418Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn5964= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp3253His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp5547Asn Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln3122= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln3612Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln4422= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln5574= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu3026Asp Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu4686Gly Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu4913Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu978= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly4204= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly4563= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His1729Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His3309Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His5086Tyr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile1187Leu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile2564Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile2942Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile3423Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile4209Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile5181= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile574Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile6547Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1018= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu133= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1839Phe Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2161= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2289= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2375Pro Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2808= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu3528Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu3979Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu4926= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu494= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5186Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5208= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5435= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5734= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5980= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6619= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu690= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys3132Asn Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys3523Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys3795= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys676Glu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Met1969Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro2376= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro4733Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro5060= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2107= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2359Asn Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2359Gly Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2366Pro Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser2802Gly Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser432Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser5274= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser803= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr1512= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Trp4001Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Trp4001Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Trp4001Ter Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Tyr4015His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val2681Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val3871= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val4064Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val5265Ala Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10067+172A>G Single submitter
• c.10067+62del Single submitter
• c.10212+241C>T Single submitter
• c.10213-147T>A Single submitter
• c.10213-231_10213-230dup Single submitter
• c.10432-154T>C Single submitter
• c.10697+16A>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10697+201G>A Single submitter
• c.10697+35T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10698-249G>A Single submitter
• c.11164-128G>A Single submitter
• c.11164-291G>T Single submitter
• c.1128+137C>T Single submitter
• c.1129-276T>C Single submitter
• c.1129-4del Single submitter
• c.1129-4dup Single submitter
• c.1129-5_1129-4del Single submitter
• c.1129-6_1129-4del Single submitter
• c.11484+121C>G Single submitter
• c.11793+67_11793+71del Single submitter
• c.11794-140G>A Single submitter
• c.11794-177T>C Single submitter
• c.11977-255A>G Single submitter
• c.12382-154T>A Single submitter
• c.12492+135T>C Single submitter
• c.12609+239T>A Single submitter
• c.12610-149A>C Single submitter
• c.12840+79A>G Single submitter
• c.12841-249C>T Single submitter
• c.1293+18dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1293+267dup Single submitter
• c.13023+40A>G Single submitter
• c.13024-112A>C Single submitter
• c.13024-118C>G Single submitter
• c.13024-194A>G Single submitter
• c.13024-5dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13159-338C>A Single submitter
• c.13422+80T>G Single submitter
• c.13423-278A>G Single submitter
• c.13555-167G>A Single submitter
• c.13918-10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-17C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-280G>A Single submitter
• c.142-278A>C Single submitter
• c.14340+220A>G Single submitter
• c.14514+20G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14515-100A>G Single submitter
• c.14647-224A>G Single submitter
• c.14843+218TTTTC[4] Single submitter
• c.15160-120del Single submitter
• c.15160-120dup Single submitter
• c.15307-136G>A Single submitter
• c.15307-270G>T Single submitter
• c.15484-131C>G Single submitter
• c.15484-195A>T Single submitter
• c.15640-246G>A Single submitter
• c.1570-14dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1570-19T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15793-162T>A Single submitter
• c.15963+244A>G Single submitter
• c.15964-171C>T Single submitter
• c.16480-252T>G Single submitter
• c.16605+114_16605+120dup Single submitter
• c.16605+139G>C Single submitter
• c.16906-16T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17236-6del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17236-6dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17430+162T>C Single submitter
• c.17872-90dup Single submitter
• c.17872-91_17872-90dup Single submitter
• c.18039-156A>C Single submitter
• c.18202-290G>A Single submitter
• c.1836+190TA[5] Single submitter
• c.1837-189T>G Single submitter
• c.1837-92_1837-90del Single submitter
• c.1837-93dup Single submitter
• c.18723+17C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18724-286A>G Single submitter
• c.18862-231T>G Single submitter
• c.19056+237A>G Single submitter
• c.19658-104_19658-103del Single submitter
• c.19658-104del Single submitter
• c.19658-104G>T Single submitter
• c.19658-17C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19658-84_19658-83insTA Single submitter
• c.19658-84dup Single submitter
• c.19658-99_19658-98insGT Single submitter
• c.19658-9dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2001+211A>G Single submitter
• c.20061+246C>T Single submitter
• c.20062-4dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20382+237dup Single submitter
• c.20383-185G>A Single submitter
• c.20469+216C>T Single submitter
• c.20470-59del Single submitter
• c.2152-297G>A Single submitter
• c.2314-200G>A Single submitter
• c.2314-302A>G Single submitter
• c.2647-181T>C Single submitter
• c.2647-182T>G Single submitter
• c.2782-182dup Single submitter
• c.2940+146C>T Single submitter
• c.3353+18A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.3353+18del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.3353+272C>T Single submitter
• c.3353+293G>A Single submitter
• c.3354-281C>T Single submitter
• c.3481-210T>C Single submitter
• c.3638+214A>G Single submitter
• c.3638+290T>C Single submitter
• c.3639-153G>A Single submitter
• c.3787-168T>G Single submitter
• c.408+121A>G Single submitter
• c.408+154T>C Single submitter

Benign/Likely benign 126

• c.10432-17T>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10867-19A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11671-4C>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+12C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+10T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-14C>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-16G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14340+11C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14976+10A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15160-18A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-10G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16479+15T>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1648+18C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18039-5T>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18541-13C>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18723+8C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19333+7G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19334-15A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19861-13C>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2002-6G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20061+4C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20190+14C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20191-13T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20382+9A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20383-9G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2152-12T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2647-4_2647-3dup Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6714+3G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6714+6G>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.6880-5C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.7643+16T>C Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.787+15T>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.79+19G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.888+17A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala1330= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala3325Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala3687= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5393Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala6671Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg1256His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg4041Cys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg4041His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6013= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6706Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6720Trp Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6780Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg968His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn1595Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Asn3982Asp Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp4436= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp5083Gly Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6143= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6473His Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6804Asn Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys6762= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln1507= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln1817= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln2122= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln4355= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln854Glu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu2388Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu2624Asp Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6733Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6833Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly2246Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly2801= Multiple submitters
• p.His2230= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His4892= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His5473= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His625Tyr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His6395= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile3008Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile3844Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile831Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile94Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1429Pro Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu144Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant ⚠
• p.Leu1674= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1799= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2988= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu3793= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu4981= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5098del Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5854Pro Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6623= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6654= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu671= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu935= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys1106= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys1538= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys1845Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys2921Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys3116Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys4328= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Lys4931Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Met1719Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Met2536Val Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro1614= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro4912Ala Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro5796= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro6416= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro6486= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro8Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser1109Asn Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser4126= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser5002= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser5474Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser55= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser5508Thr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6472Leu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6808= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6849= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6878= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr1357Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr2024Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr2866Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr4810= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr5662Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr5678Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr6211Met Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Tyr2496Cys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Tyr575Cys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val2258Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val2490Gly Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val5261Ile Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val5307= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Likely benign 1240

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

• c.1129-7_1129-4del Multiple submitters
• c.11346+16G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+72C>T Multiple submitters
• c.13023+8A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13281-6C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13917+55C>A Multiple submitters
• c.13918-13A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14976+15C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14976+16A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15483+13G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16479+128C>T Multiple submitters
• c.16605+133C>G Multiple submitters
• c.17236-96T>C Multiple submitters
• c.17431-61A>G Multiple submitters
• c.17557-17_17557-15del Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18389+7A>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.18540+20C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19658-16G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.19658-65T>G Multiple submitters
• c.19658-84T>A Multiple submitters
• c.20062-24C>T Multiple submitters
• c.20516+17G>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.20517-12C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.2472+2TC[2] Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.3243+116A>G Multiple submitters
• c.3639-12C>T Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.3639-6A>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.80-7T>G Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.888+10C>A Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala2565= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala2954= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala419= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4219= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4677= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4771= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala4795= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5398= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5479= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5582= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala5873Glu Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala6505= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ala833= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg1751= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg2812Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg3399Cys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg5680Gln Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Arg6035= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn2358= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn453= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn4684= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn5184= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asn6637= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp118= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp1372= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp4218= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6424= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6434= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Asp6541= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys3438Tyr Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys3775= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Cys5959= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gln1673= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu1680= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6248= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Glu6837= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly1736= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly2495Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Gly3546= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His4337= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His48= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His5524= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His5841= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His625= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.His979Arg Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile1914= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ile4039= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1750= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu1917= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu2577= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu4317= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5158= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5616= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5627= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu5903= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu654= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu6864= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Leu834= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Met1214Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Met1383Lys Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro2110= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro3281= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro5625= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Pro672= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser1896= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser3271= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser3444= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser3605= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser4484= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser4974Ala Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser5204= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6341= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6816= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Ser6878Ala Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr1357= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr2115= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr4486Ser Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr4766= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr5579= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr5678= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Thr6646= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Tyr3331= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Tyr4949= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val1285= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val3141= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val638= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• p.Val6499= Multiple submitters Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10067+13C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10067+9T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10068-10G>T Single submitter
• c.10068-12G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10068-19T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10212+20G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10212+9A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10213-15C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10431+11C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10431+12A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10431+19A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10432-15T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10432-5A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10432-7G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10432-7G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10697+10A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10697+20A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10698-12G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10698-12G>C Single submitter
• c.10698-13C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.10866+14G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11023-10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11023-13G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11023-19G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11023-20C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11163+7T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11164-16C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11164-19T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1128+10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1128+19T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1129-4T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1129-5T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1129-6_1129-4dup Single submitter
• c.11346+12A>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11346+12A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11346+14T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11347-14C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11347-6del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11485-17A>G Single submitter
• c.11485-18C>T Single submitter
• c.11670+10del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11670+8T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11670+9G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11671-13_11671-11del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11671-15C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11793+10G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11793+12T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11794-14C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11794-9A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11977-18G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.11977-20T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12108+10_12108+32dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12108+18A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12306+124T>C Single submitter
• c.12306+12T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12307-11G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12307-13C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12307-16G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12307-9G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12381+18C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12382-14G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12382-15C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12382-17A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12382-4del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+13_12492+14dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+13G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+7C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12492+9G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12493-13_12493-11dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12609+14G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12609+20A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12610-15T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12610-4T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12841-10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.12841-5C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1293+18A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1294-15T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1294-17G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1294-18T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13023+10G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13023+11_13023+12insTC Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13023+12C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13023+16C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13024-17T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13280+20_13280+21del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13422+10T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13422+11_13422+15dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13422+11A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13422+17A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13422+7C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13423-20G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13554+16A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13554+18T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13554+7G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13555-12C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13555-19T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13555-20C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+10T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+16C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+16C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+17G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13707+19G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-11C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-13C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-13C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-14C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13708-7A>C Single submitter
• c.13917+11G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-2A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.13918-8T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14019+11C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14019+11C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14019+7A>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1406+15C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1406+9C>T Single submitter
• c.1407-13C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1407-15T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1407-16C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.141+12A>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.141+18A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14139+20A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14140-14T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14340+12A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14340+13C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14340+168A>C Single submitter
• c.14340+7C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14341-11C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14341-13C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14341-16T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14341-18A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14514+13T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14514+19C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14514+20G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14514+20G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14646+20G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14646+9C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14647-16C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14843+13G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14844-5G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14976+7T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.14977-131GT[8] Single submitter
• c.14977-20A>G Single submitter
• c.14977-9C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15159+11A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15160-10G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15307-9T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15483+12C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15483+13G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15484-10A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15484-12A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15484-14_15484-13del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15484-6A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1569+18G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1570-4C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1570-8C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15792+16del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15792+17G>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15963+12A>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15963+218T>G Single submitter
• c.15964-11G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15964-19T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.15964-9_15964-8del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-12T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-13G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-13G>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-14C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16095-14C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16300-20C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16479+15T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1648+17A>G Single submitter
• c.16480-12C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16480-9T>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.1649-4G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16606-7A>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16760+11C>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16760+12C>G Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16761-6T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16905+14C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.16905+17T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17000+20T>C Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17235+15G>A Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17236-14_17236-11del Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17236-14dup Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant
• c.17236-16C>T Single submitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant