Sugi Variant

Sugi Variant/MYH2

MYH2 — 1569 ClinVar variants

All ClinVar germline MYH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 765 flagged for review →

58 Pathogenic · 13 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 47 Conflicting · 54 Benign · 24 Benign/Likely benign · 444 Likely benign · 890 Uncertain significance

Full MYH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 765

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 agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 527

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 527

Predictors split 227

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 227

All MYH2 variants

Pathogenic 58

  • p.Arg1218Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Arg18Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Arg793Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.904+1G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala433fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg144Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1852Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg30fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg783Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1615fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn702fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn891fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1714fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp602fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1069fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1080Ter Single submitter
  • p.Gln1097fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1118Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1190Ter Single submitter
  • p.Gln1272Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1273Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1604Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1859Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln329Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln418fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln613Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln740fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln789fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln821Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1233Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1301Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1632Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1778fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu806fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu986fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly574fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly642fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.His1009fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu1005fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu1156fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu1721fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu802Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Lys1253Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Lys725Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Lys859fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Met1435fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Phe247fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Pro31_Phe32insTer Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ser1043fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ser648fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ser848fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Thr619fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Val897fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly642fs No assertion criteria
  • c.1975-2A>G No assertion criteria myopathy, proximal, and ophthalmoplegia
  • p.Glu706Lys No assertion criteria myopathy, proximal, and ophthalmoplegia
  • p.Leu1870Pro No assertion criteria myopathy, proximal, and ophthalmoplegia
  • p.Phe801fs No assertion criteria myopathy, proximal, and ophthalmoplegia

Pathogenic/Likely pathogenic 13

  • c.1147+1G>T Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.2305-1G>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.4662+2T>G Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.5673+1G>C Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Gln1111Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Gln1513Ter Multiple submitters MYH2-related disorder
  • p.Gln726Ter Multiple submitters hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
  • p.Glu1007Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Glu1168Ter Multiple submitters
  • p.Glu909Ter Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1877Pro Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Lys1865fs Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Pro844fs Multiple submitters myopathy, proximal, and ophthalmoplegia

Likely pathogenic 39

  • c.1008+1G>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.1975-1G>C Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.4537+1G>C Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.1417-1G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1417-2_1417-1delinsCC Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1897+1G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1898-1G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.205-1_205del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2063-2A>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2180+1G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2441+1G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4535_4538dup Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4662+1G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.505+2T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5301+2T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.533+1G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5473-2A>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.741+1G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.742-1G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn425fs Single submitter
  • p.Gln1512Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1001fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1055fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1271Ter Single submitter
  • p.Glu1394Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1773fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu854Ter Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ile1114fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ile865fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu778fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Met438fs Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Pro314_Phe315insGluProIleTer Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ser1071fs Single submitter
  • p.Ser3Ter Single submitter MYH2-related disorder
  • p.Tyr1884Ser Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1838fs No assertion criteria myopathy
  • p.Ser872Ter No assertion criteria
  • p.Thr1257fs No assertion criteria myopathy
  • p.Tyr721fs No assertion criteria MYH2-related disorder

Conflicting classifications of pathogenicity 47

  • c.1266+7G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1898-3C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2305-11T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3263+11A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4537+5G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-7T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5472+1G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.904+1G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala111Val Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Ala1195= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala14Val Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Ala522= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg109His Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Arg1173= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1295His Single submitter Inborn genetic diseases ⚠
  • p.Arg1402Trp Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Arg1705= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg170Ter Single submitter MYH2-related disorder
  • p.Asp756Asn Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Gln1010Arg Single submitter Inborn genetic diseases
  • p.Gln164Pro Single submitter MYH2-related disorder ⚠
  • p.Glu1103Val Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Glu1154Lys Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Glu1940= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly417= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly417Ala Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Gly634Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly777= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ile1128= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ile155= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ile757Thr Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Leu1033Ile Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Leu1061Val Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Leu230= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Lys1000= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Lys1451fs Single submitter MYH2-related disorder
  • p.Met1435Thr Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Ser1043Ala Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Ser1043Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser1205= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ser392Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser826= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Thr1383= Single submitter Inborn genetic diseases
  • p.Thr1860= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Val434Ile Single submitter myopathy, proximal, and ophthalmoplegia ⚠
  • p.Val653= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Val805Ala Single submitter myopathy, proximal, and ophthalmoplegia ⚠

Benign 54

Benign/Likely benign 24

  • c.1975-9G>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.2062+8A>G Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.2304+7T>G Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.2698-8A>C Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.5674-10T>C Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.805+8T>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.*51C>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala1443= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala387= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala989= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Arg1927Gln Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asn1414= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asn702= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asp1144= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Gly765= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1420Phe Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1663= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu229= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu271= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu963= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Phe278= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr1194= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr794= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Val970Ile Multiple submitters myopathy, proximal, and ophthalmoplegia

Likely benign 444

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

  • c.1147+7A>G Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.1416+40G>C Multiple submitters
  • c.1898-132T>C Multiple submitters
  • c.1974+167G>A Multiple submitters
  • c.2062+22G>C Multiple submitters
  • c.2181-294C>G Multiple submitters
  • c.2305-19C>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.2441+16T>A Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.3263+10A>T Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.3354+24C>T Multiple submitters
  • c.3355-31A>C Multiple submitters
  • c.3872-123G>A Multiple submitters
  • c.4187+239C>T Multiple submitters
  • c.4188-285T>C Multiple submitters
  • c.4537+7C>T Multiple submitters myopathy, proximal, and ophthalmoplegia
  • c.506-26T>C Multiple submitters
  • c.5472+33G>T Multiple submitters
  • c.5577+60T>G Multiple submitters
  • c.741+17C>T Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala1159= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala1460Gly Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala200= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asn1866= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asn1924= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asn29= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asp1384= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asp1590= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Asp867= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Glu1355= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Glu1644= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ile755= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ile88= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1016= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1258= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1712= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Leu1785= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Lys877= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Phe497= Multiple submitters Inborn genetic diseases
  • p.Ser1153= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ser1782= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ser294= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr1795= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr335= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr51= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr547= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Thr999= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Tyr362= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Val409= Multiple submitters myopathy, proximal, and ophthalmoplegia
  • p.Ala1361= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1336= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu838= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Leu778= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Pro133= Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1008+222dup Single submitter
  • c.1008+8G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1008+9A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1148-16T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1148-18A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1266+11A>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1266+20T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1266+7G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1416+20G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1416+9G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1417-10A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1417-13T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1417-16A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1417-285T>G Single submitter
  • c.1587+12A>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1587+12A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1588-10T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1897+13T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1897+15T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1897+257T>C Single submitter
  • c.1897+7C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1898-12C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1898-13C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.1974+110T>C Single submitter
  • c.1975-9_1975-8inv Single submitter myopathy, proximal, and ophthalmoplegia
  • c.204+20C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2062+17T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2063-12A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2063-8A>G Single submitter
  • c.2180+16T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2180+20G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2180+7T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2181-12G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2181-14A>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2181-15T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2181-5A>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2181-7T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2304+17C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2305-11T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2305-18A>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2305-19C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2441+10del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2441+13T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2441+7A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2442-16A>G Single submitter
  • c.2442-20T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2697+101A>T Single submitter
  • c.2697+7T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2698-20G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2940+12A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2940+3ATCA[4] Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2940+7A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2941-4G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2941-6T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2941-8C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.2941-8C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3117+13T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3117+16_3117+18del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3117+16T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3117+18A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3263+11_3263+12del Single submitter
  • c.3263+11_3263+15delinsG Single submitter MYH2-related disorder
  • c.3263+12_3263+15del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3263+14_3263+15del Single submitter
  • c.3263+19C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3264-10T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3354+10T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3354+11G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3354+15T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3354+18del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3354+9_3354+10insATTGCAAGTAAGAC Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3355-12C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3355-8A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.348+20G>A Single submitter
  • c.349-10C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.349-14T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.349-5C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.349-7C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.349-82T>C Single submitter
  • c.3744+11T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3745-173G>A Single submitter
  • c.3745-188_3745-186dup Single submitter
  • c.3745-18T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3871+19G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3872-16T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3990+7A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.3990+9G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4187+16T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4187+16T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4187+19G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4188-14G>C Single submitter
  • c.4188-4C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4371+12A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4371+15A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4371+8C>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4372-17A>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4537+9C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4538-14T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4662+19A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4971+15G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4971+20G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4971+8T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.4972-19A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.505+10C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.505+17C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.505+25del Single submitter
  • c.506-20G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.506-299G>A Single submitter
  • c.5175+162T>C Single submitter
  • c.5176-272C>T Single submitter
  • c.5301+18T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5301+7G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-10del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-18G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-5T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-6A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5302-9G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.534-16A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.534-21_534-12del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5472+18T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5472+19_5472+22del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5473-18G>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5473-6T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5577+12A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5577+7C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5577+9A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5578-17T>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5578-17T>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5578-19A>G Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5673+179A>G Single submitter
  • c.5674-16C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.5674-178GT[8] Single submitter
  • c.5674-26C>G Single submitter
  • c.5674-5C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.648+13G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.648+19G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.649-4G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.742-13C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.805+12G>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.805+16del Single submitter myopathy, proximal, and ophthalmoplegia
  • c.806-20T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.904+19C>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.904+19C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.904+215A>G Single submitter
  • c.905-11C>T Single submitter
  • c.905-17C>T Single submitter myopathy, proximal, and ophthalmoplegia
  • c.905-19T>C Single submitter myopathy, proximal, and ophthalmoplegia
  • c.905-20G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • c.905-8G>A Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala111= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1207= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1281= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1313= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1336= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1361= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1366= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1370= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1395= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1446= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala151= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1609= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1768= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1912= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala1916= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala41Val Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala433= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala576= Single submitter
  • p.Ala788= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala901= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Ala92= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1256= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1283= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1350= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1378= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1787= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1851= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg191= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg1927= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg677= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg783= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Arg797= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1024= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1170= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1250= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1333= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1429= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn161= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn1726= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn425= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn485= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn553= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asn829= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1064= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1214= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1236= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1345= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1579= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp1863= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp265= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp328= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp451= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp602= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Asp74= Single submitter
  • p.Cys523= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1272= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1364= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1376= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1425= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1428= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1464= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln1604= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln448= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln478= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gln489= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1122= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1157= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1168= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1174= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1185= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1242= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1327= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1328= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1354= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1407= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1430= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1432= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1439= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1577= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1671= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1690= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1805= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1889= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu1908= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu330= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu412= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu421= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu507= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu806= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu878= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Glu941= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly145= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly1745= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly203= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly234= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly319= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly467= Single submitter myopathy, proximal, and ophthalmoplegia
  • p.Gly610= Single submitter myopathy, proximal, and ophthalmoplegia

Uncertain significance 890

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