ACTA1 — 598 ClinVar variants
All ClinVar germline ACTA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →
98 Pathogenic · 31 Pathogenic/Likely pathogenic · 98 Likely pathogenic · 21 Conflicting · 16 Benign · 7 Benign/Likely benign · 132 Likely benign · 195 Uncertain significance
Full ACTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 175
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACTA1 p.Met229Leu
Likely pathogenic
Expert panel
alpha-actinopathy
-
ACTA1 p.Ala274Val
Pathogenic/Likely pathogenic
Multiple submitters
progressive scapulohumeroperoneal distal myopathy
-
ACTA1 p.Ile177Val
Likely pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ile359Val
Likely pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Ile73Val Pathogenic Single submitter
-
ACTA1 p.Lys70Arg
Pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Met134Val
Pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro309Ala
Pathogenic
Single submitter
congenital myopathy 4A, autosomal dominant
-
ACTA1 p.Pro309Ser
Likely pathogenic
Single submitter
congenital myopathy
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACTA1 p.Asp13Glu
Conflicting
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Glu239Lys Conflicting Single submitter
-
ACTA1 p.Leu180Pro
Conflicting
Single submitter
congenital myopathy 2c, severe infantile, autosomal dominant
-
ACTA1 p.Thr353Ala
Conflicting
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr308Cys
Conflicting
Single submitter
congenital myopathy 2a, typical, autosomal dominant
Predictors lean, ClinVar uncertain 137
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ACTA1 p.Gly44Cys
Uncertain significance
Expert panel
alpha-actinopathy
-
ACTA1 p.Ile250Thr
Uncertain significance
Expert panel
alpha-actinopathy
-
ACTA1 p.Leu112Ile
Uncertain significance
Expert panel
alpha-actinopathy
-
ACTA1 p.Met357Ile
Uncertain significance
Expert panel
alpha-actinopathy
-
ACTA1 p.Ala110Val
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala21Thr
Uncertain significance
Multiple submitters
progressive scapulohumeroperoneal distal myopathy
-
ACTA1 p.Ala28Ser
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Arg149Lys
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp27Glu
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu226Lys
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu239Gly
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly304Asp
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.His103Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTA1 p.Leu173Met
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Leu238Pro
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Met192Thr
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Phe354Ser
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro334Ala
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser235Phe
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr196Ile
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr251Ser
Uncertain significance
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala137Asp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala146Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala172Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala28Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTA1 p.Ala28Pro
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala28Thr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala297Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Ala349Val Uncertain significance Single submitter
-
ACTA1 p.Arg208Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Arg208Ser
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Arg292Lys Uncertain significance Single submitter
- ACTA1 p.Arg30Ser Uncertain significance Single submitter
-
ACTA1 p.Arg337His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Arg41Gly
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Arg64Ile
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asn117Tyr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asn14Tyr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asn164Ser
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asn299Lys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Asn94His Uncertain significance Single submitter
-
ACTA1 p.Asp189Asn
Uncertain significance
Single submitter
ACTA1-related disorder
-
ACTA1 p.Asp224His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp246Glu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp27Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTA1 p.Asp294Glu Uncertain significance Single submitter
-
ACTA1 p.Asp294Tyr
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
ACTA1 p.Asp313His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp53Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Cys376Tyr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gln248Lys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gln51His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu169Ala
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Glu197Asp Uncertain significance Single submitter
-
ACTA1 p.Glu209Asp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu243Gln
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu243Lys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu318Asp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu363Ala
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu4Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTA1 p.Glu59Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Glu95Gln
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Gly160Arg Uncertain significance Single submitter
-
ACTA1 p.Gly22Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly247Trp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly253Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Gly25Arg Uncertain significance Single submitter
-
ACTA1 p.Gly25Glu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly303Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTA1 p.Gly344Arg Uncertain significance Single submitter
-
ACTA1 p.Gly344Asp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly344Ser
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly345Ser
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly44Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Gly50Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.His75Asn Uncertain significance Single submitter
-
ACTA1 p.Ile210Met
Uncertain significance
Single submitter
myopathy
-
ACTA1 p.Ile289Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ile329Thr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Ile343Met Uncertain significance Single submitter
-
ACTA1 p.Ile343Val
Uncertain significance
Single submitter
progressive scapulohumeroperoneal distal myopathy
-
ACTA1 p.Ile371Met
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Leu142Arg
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Leu144Pro
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Leu195Val Uncertain significance Single submitter
-
ACTA1 p.Leu322Gln
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Leu322Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Leu351Pro
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Lys120Gln
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Lys338Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Met178Leu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Met327Ile
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Met357Val Uncertain significance Single submitter
-
ACTA1 p.Met49Thr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Phe202Leu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Phe23Leu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Phe268Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro100His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro104His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Pro114Leu Uncertain significance Single submitter
-
ACTA1 p.Pro132Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTA1 p.Pro174Arg Uncertain significance Single submitter
-
ACTA1 p.Pro266Leu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro266Ser
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro324Thr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro369His
Uncertain significance
Single submitter
myopathy
-
ACTA1 p.Pro40Arg
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro72Leu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser143Phe
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser237Pro
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser273Trp
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Ser325Arg Uncertain significance Single submitter
- ACTA1 p.Ser340Trp Uncertain significance Single submitter
- ACTA1 p.Ser350Trp Uncertain significance Single submitter
- ACTA1 p.Ser352Phe Uncertain significance Single submitter
-
ACTA1 p.Ser370Tyr
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr108Ile
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr150Ile
Uncertain significance
Single submitter
Intranuclear rod myopathy
-
ACTA1 p.Thr151Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Thr326Asn Uncertain significance Single submitter
-
ACTA1 p.Thr353Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr68Ile
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr145Phe
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr296Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr308His
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr339Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr93His
Uncertain significance
Single submitter
congenital myopathy 2b, severe infantile, autosomal recessive
-
ACTA1 p.Val131Met
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Val136Ala
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Val19Met
Uncertain significance
Single submitter
ACTA1-related disorder
-
ACTA1 p.Val221Leu
Uncertain significance
Single submitter
alpha-actinopathy
-
ACTA1 p.Val249Phe
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Val300Phe
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Val32Met
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala183Pro
Uncertain significance
No assertion criteria
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp83Asn
Uncertain significance
No assertion criteria
ACTA1-related disorder
-
ACTA1 p.Leu218Gln
Uncertain significance
No assertion criteria
congenital myopathy 2a, typical, autosomal dominant
Predictors split 24
The independent predictors disagree with each other — read with care.
-
ACTA1 p.Met229Val
Pathogenic
Expert panel
alpha-actinopathy
-
ACTA1 p.Ala116Thr
Likely pathogenic
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ala116Val
Likely pathogenic
Multiple submitters
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asn130Ser
Uncertain significance
Multiple submitters
alpha-actinopathy
-
ACTA1 p.Ala116Ser
Conflicting
Single submitter
ACTA1-related myopathies
-
ACTA1 p.Ala133Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTA1 p.Ala312Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTA1 p.Asn282His
Likely pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp3Glu
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ile124Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ile214Val
Uncertain significance
Single submitter
ACTA1-related disorder
-
ACTA1 p.Ile269Val
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Lys217Arg
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Met271Val
Conflicting
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Pro335Ala
Likely pathogenic
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser267Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser340Ala
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ser35Cys
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Thr279Asn
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Tyr220Phe
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
- ACTA1 p.Val131Ala Uncertain significance Single submitter
-
ACTA1 p.Val45Ile
Uncertain significance
Single submitter
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Asp3Tyr
Pathogenic
No assertion criteria
congenital myopathy 2a, typical, autosomal dominant
-
ACTA1 p.Ile153Leu
Uncertain significance
No assertion criteria
ACTA1-related disorder
All ACTA1 variants
Pathogenic 98
- c.990+1G>T Expert panel alpha-actinopathy
- p.Asp181fs Expert panel alpha-actinopathy
- p.Asp290His Expert panel alpha-actinopathy
- p.Cys376Ser Expert panel alpha-actinopathy
- p.Glu95Lys Expert panel alpha-actinopathy
- p.His42Tyr Expert panel alpha-actinopathy
- p.Ile359Leu Expert panel alpha-actinopathy
- p.Ile73fs Expert panel alpha-actinopathy
- p.Met229Thr Expert panel alpha-actinopathy
- p.Met229Val Expert panel alpha-actinopathy ⚠
- p.Pro334Arg Expert panel alpha-actinopathy
- p.Pro334Ser Expert panel alpha-actinopathy
- p.Pro369Leu Expert panel alpha-actinopathy
- p.Val165Met Expert panel alpha-actinopathy
- p.Val37Leu Expert panel alpha-actinopathy
- p.Arg258His Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Asn117Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Asp181His Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Glu228Ter Multiple submitters congenital fiber-type disproportion myopathy
- p.Gly247Arg Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly270Arg Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly48Asp Multiple submitters congenital myopathy
- p.Gly76Asp Multiple submitters ACTA1-related disorder
- p.Met49Val Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Tyr281His Multiple submitters ACTA1-related disorder
- c.616+1G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-2A>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala140Gly Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala172Glu Single submitter Nemaline myopathy 3, autosomal dominant or recessive
- p.Ala183Thr Single submitter
- p.Ala206Val Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala274Glu Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala297Thr Single submitter myopathy
- p.Arg185Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg256His Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg258Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn113Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn282Lys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn94Lys Single submitter
- p.Asn94Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp156His Single submitter nemaline myopathy
- p.Asp186Gly Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp27Gly Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp290Asn Single submitter nemaline myopathy
- p.Cys12Ter Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gln265Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gln43Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gln61Ter Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu207Val Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu336fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu95Gly Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly170Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly17Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly17Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly184Asp Single submitter
- p.Gly270Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly38Ala Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly48Val Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly57Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.His163Arg Single submitter alpha-actinopathy
- p.His163Gln Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ile73Val Single submitter ⚠
- p.Leu142Pro Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu238fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys120Met Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys20Asn Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys328del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys52fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys70Arg Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Met134fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met134Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Met307Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met49Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Phe268Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro309Ala Single submitter congenital myopathy 4A, autosomal dominant ⚠
- p.Ser235Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser273Ter Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser350Leu Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ter378Gln Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr204Ile Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr68Asn Single submitter nemaline myopathy
- p.Tyr200Asn Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr200Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr220Ter Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr281Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr71Asn Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val154_Asp159del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val154Ala Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val165fs Single submitter
- c.809-1G>T No assertion criteria congenital myopathy 2b, severe infantile, autosomal recessive
- p.Arg41Ter No assertion criteria congenital myopathy 2b, severe infantile, autosomal recessive
- p.Asp27Asn No assertion criteria congenital myopathy 2a, typical, autosomal dominant
- p.Asp288Gly No assertion criteria congenital myopathy 2c, severe infantile, autosomal dominant
- p.Asp294Val No assertion criteria congenital myopathy 2a, typical, autosomal dominant
- p.Asp3Tyr No assertion criteria congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly270Cys No assertion criteria congenital myopathy 2a, typical, autosomal dominant
- p.Lys328Asn No assertion criteria congenital myopathy 2c, severe infantile, autosomal dominant
- p.Val165Leu No assertion criteria congenital myopathy 2a, typical, autosomal dominant
Pathogenic/Likely pathogenic 31
- p.Ala140Asp Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ala146fs Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ala206Thr Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ala274Val Multiple submitters progressive scapulohumeroperoneal distal myopathy ⚠
- p.Arg185Ser Multiple submitters congenital myopathy 2c, severe infantile, autosomal dominant
- p.Arg198His Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Glu226Gln Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Glu228Gln Multiple submitters ACTA1-related disorder
- p.Glu261Val Multiple submitters congenital fiber-type disproportion myopathy
- p.Glu6Lys Multiple submitters ACTA1-related disorder
- p.Gly160Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly17Arg Multiple submitters congenital myopathy 2b, severe infantile, autosomal recessive
- p.Gly270Asp Multiple submitters ACTA1-related myopathies
- p.Gly48Ala Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly48Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly76Arg Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ile66Asn Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Leu144Phe Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Leu96Pro Multiple submitters ACTA1-related myopathies
- p.Met285Arg Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Met46Thr Multiple submitters progressive scapulohumeroperoneal distal myopathy
- p.Phe92del Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Pro29fs Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Pro335Leu Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Pro72Arg Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ser143Pro Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ser147Phe Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Thr79Ile Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Tyr55Ter Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Val45Phe Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ser147Tyr Single submitter fetal akinesia deformation sequence
Likely pathogenic 98
- c.617-5C>A Expert panel alpha-actinopathy
- p.Asp13Asn Expert panel alpha-actinopathy
- p.Asp58Asn Expert panel alpha-actinopathy
- p.Cys376Phe Expert panel alpha-actinopathy
- p.Glu102Lys Expert panel alpha-actinopathy
- p.Glu336Ala Expert panel alpha-actinopathy
- p.Glu363_Tyr364insTer Expert panel alpha-actinopathy
- p.Glu59Lys Expert panel alpha-actinopathy
- p.Gly148Arg Expert panel alpha-actinopathy
- p.Gly148Ser Expert panel alpha-actinopathy
- p.Gly148Val Expert panel alpha-actinopathy
- p.Ile138Met Expert panel alpha-actinopathy
- p.Leu348Gln Expert panel alpha-actinopathy
- p.Met229Leu Expert panel alpha-actinopathy ⚠
- p.Pro334Leu Expert panel alpha-actinopathy
- p.Ser352Pro Expert panel alpha-actinopathy
- p.Trp358Cys Expert panel alpha-actinopathy
- p.Tyr145Ter Expert panel alpha-actinopathy
- p.Ala116Thr Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala116Val Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu223Pro Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Met134Ile Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.130-1G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-2A>G Single submitter
- c.455-2A>T Single submitter
- c.616+2T>C Single submitter neuromuscular disease
- p.Ala116Pro Single submitter nemaline myopathy
- p.Arg179His Single submitter ACTA1-related disorder
- p.Arg198Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg256Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg256Gly Single submitter congenital myopathy
- p.Arg258Gly Single submitter nemaline myopathy
- p.Arg30Lys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg41Leu Single submitter
- p.Arg97Gly Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.Asn117fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn254Lys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn282His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn80Thr Single submitter
- p.Asn94Asp Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.Asp181Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp186Asn Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp186His Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp313fs Single submitter alpha-actinopathy
- p.Gln265His Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gln316fs Single submitter congenital myopathy 2b, severe infantile, autosomal recessive
- p.Glu102fs Single submitter
- p.Glu109Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu119Gln Single submitter alpha-actinopathy
- p.Glu119Lys Single submitter congenital myopathy 4A, autosomal dominant
- p.Glu169Gly Single submitter
- p.Glu197Lys Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.Glu216Lys Single submitter
- p.Glu255Gln Single submitter nemaline myopathy
- p.Glu278Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu336Asp Single submitter ACTA1-related disorder
- p.Glu6Ter Single submitter
- p.Glu74Lys Single submitter
- p.Glu95Val Single submitter ACTA1-related disorder
- p.Gly253Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly38Asp Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly38Cys Single submitter ACTA1-related disorder
- p.Gly48Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly50Val Single submitter
- p.Gly65Val Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.His373Gln Single submitter
- p.Ile138Asn Single submitter Nemaline myopathy 3, autosomal dominant or recessive
- p.Ile167fs Single submitter
- p.Ile177Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile359Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile66Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ile73Ser Single submitter Inborn genetic diseases
- p.Ile87Phe Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.Leu106Pro Single submitter neuromuscular disease
- p.Leu96Val Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys375Asn Single submitter nemaline myopathy
- p.Lys375Glu Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met271Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met327Lys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Phe257Leu Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Phe354Leu Single submitter ACTA1-related myopathies
- p.Phe377Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro309Ser Single submitter congenital myopathy ⚠
- p.Pro335Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro335Arg Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro335Gln Single submitter
- p.Ser241Arg Single submitter neuromuscular disease
- p.Ser350Ter Single submitter
- p.Thr108_Ala110delinsIleGluVal Single submitter
- p.Thr122Pro Single submitter myopathy
- p.Thr150Ser Single submitter progressive scapulohumeroperoneal distal myopathy
- p.Thr196Pro Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr353Ile Single submitter alpha-actinopathy
- p.Thr79fs Single submitter
- p.Trp81Ter Single submitter
- p.Val154Leu Single submitter Congenital muscular dystrophy with rigid spine
- p.Val47Glu Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro174Leu No assertion criteria congenital myopathy 2a, typical, autosomal dominant
Conflicting classifications of pathogenicity 21
- c.616+4C>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.617-8C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-10C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.*248G>A Single submitter familial restrictive cardiomyopathy
- p.Ala116Ser Single submitter ACTA1-related myopathies ⚠
- p.Asp13Glu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp82= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Cys376= Single submitter familial restrictive cardiomyopathy
- p.Gln355= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu239Lys Single submitter ⚠
- p.Ile194_Glu197delinsLys Single submitter congenital fiber-type disproportion myopathy
- p.Ile289= Single submitter familial restrictive cardiomyopathy
- p.Ile36= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu180Pro Single submitter congenital myopathy 2c, severe infantile, autosomal dominant ⚠
- p.Lys375= Single submitter familial restrictive cardiomyopathy
- p.Met271Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr262= Single submitter familial restrictive cardiomyopathy
- p.Thr353Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr145= Single submitter familial restrictive cardiomyopathy
- p.Tyr296= Single submitter congenital fiber-type disproportion myopathy
- p.Tyr308Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
Benign 16
- c.617-5C>T Expert panel alpha-actinopathy
- c.809-13dup Expert panel alpha-actinopathy
- c.809-14G>C Expert panel alpha-actinopathy
- c.809-35del Expert panel alpha-actinopathy
- c.-66C>T Expert panel alpha-actinopathy
- c.129+16C>T Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.130-10G>C Multiple submitters familial restrictive cardiomyopathy
- c.130-5T>C Multiple submitters familial restrictive cardiomyopathy
- c.455-53A>C Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.809-14delinsCC Multiple submitters
- c.-13+159G>A Multiple submitters
- c.130-20G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-14del Single submitter
- c.809-35_809-14delinsAGCTTCTGCTCACGCTCCCCCC Single submitter
- c.809-3del Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.-12-61del Single submitter
Benign/Likely benign 7
- c.129+31C>A Multiple submitters
- c.454+15C>T Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.809-18dup Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ala183= Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Gly44= Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ile332= Multiple submitters familial restrictive cardiomyopathy
- p.Thr151= Multiple submitters familial restrictive cardiomyopathy
Likely benign 132
- p.Cys12= Expert panel alpha-actinopathy
- p.Gly368= Expert panel alpha-actinopathy
- c.454+11G>A Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.454+36C>T Multiple submitters
- c.808+13C>T Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.-12-61C>G Multiple submitters
- p.Leu10= Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Thr108= Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- c.129+15C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.129+20G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-11C>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-5_130-4inv Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-9G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.454+10C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.454+14del Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.454+15C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.454+18C>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.454+45G>C Single submitter
- c.454+51G>C Single submitter
- c.455-10G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-6G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-8G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-9C>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+13C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+19C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+19C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+20C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+7G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+9C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.617-10C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.617-17G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.617-20C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.617-28G>C Single submitter
- c.808+16C>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.808+18T>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.808+7C>G Single submitter
- c.808+9C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-11G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-13_809-12dup Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-14_809-13insA Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-14_809-13insT Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-14G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-14G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-15C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-16_809-15insA Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-16_809-15insG Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-18_809-17insG Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-18_809-17insT Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-18C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-19T>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-35_809-19delinsAGCTTCTGCTCACGCTC Single submitter
- c.809-43G>T Single submitter
- c.809-6C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.990+10G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.990+6TGG[3] Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-12G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-12G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-14G>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-14G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-15C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-19_991-13del Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.-12-202T>G Single submitter
- c.-12-68dup Single submitter
- c.-4C>T Single submitter
- c.*58dup Single submitter
- p.Ala133= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala140= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala172= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala21= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala31= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala321= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg185= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg208= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg258= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Arg39= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn130= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn227= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn94= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp294= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp5= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asp83= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Cys287= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gln248= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu102= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu209= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu336= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Glu366= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly50= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Gly57= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ile153= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu180= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu182= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu218= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu244= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu351= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys215= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys217= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys240= Single submitter
- p.Lys286= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys328= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys361= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Phe23= Single submitter
- p.Pro100= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro104= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro266= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro324= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro34= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro72= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser147= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser16= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser201= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser241= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser273= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser302= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser350= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser352= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr122= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr196= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr231= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr279= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr320= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr326= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Thr8= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr135= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr220= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr242= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Tyr55= Single submitter
- p.Val141= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val154= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val47= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Val56= Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-10T>C No assertion criteria ACTA1-related disorder
Uncertain significance 195
- p.Gly44Cys Expert panel alpha-actinopathy ⚠
- p.Ile250Thr Expert panel alpha-actinopathy ⚠
- p.Leu112Ile Expert panel alpha-actinopathy ⚠
- p.Met357Ile Expert panel alpha-actinopathy ⚠
- c.454+3G>T Multiple submitters congenital myopathy 2a, typical, autosomal dominant
- p.Ala110Val Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala21Thr Multiple submitters progressive scapulohumeroperoneal distal myopathy ⚠
- p.Ala28Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Arg149Lys Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn130Ser Multiple submitters alpha-actinopathy ⚠
- p.Asp27Glu Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu226Lys Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu239Gly Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly304Asp Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.His103Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Leu173Met Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu238Pro Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Met192Thr Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Phe354Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro334Ala Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser235Phe Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr196Ile Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr251Ser Multiple submitters congenital myopathy 2a, typical, autosomal dominant ⚠
- c.129+14T>C Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.129+4A>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-11_130-10delinsTC Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-11C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-3C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.130-5T>A Single submitter nemaline myopathy
- c.454+3G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-11C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-18_455-15del Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-20TC[2] Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.455-7C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+4C>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.616+5G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.808+3G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.808+6C>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.809-19_809-18insA Single submitter progressive scapulohumeroperoneal distal myopathy
- c.809-9G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.990+3G>T Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.990+4G>A Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.991-2A>G Single submitter congenital myopathy 2a, typical, autosomal dominant
- c.*66G>A Single submitter familial restrictive cardiomyopathy
- p.Ala133Ser Single submitter Inborn genetic diseases ⚠
- p.Ala137Asp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala146Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala172Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala233Asn Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala274Ser Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala28Cys Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala28Gly Single submitter Inborn genetic diseases ⚠
- p.Ala28Pro Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala28Thr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala297Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala312Ser Single submitter Inborn genetic diseases ⚠
- p.Ala349fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ala349Val Single submitter ⚠
- p.Ala367= Single submitter
- p.Arg208Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Arg208Ser Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Arg292Lys Single submitter ⚠
- p.Arg30Ser Single submitter ⚠
- p.Arg337His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Arg41Gly Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Arg64Ile Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn117Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn14Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn164Ser Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn299Lys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asn94del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Asn94His Single submitter ⚠
- p.Asp189Asn Single submitter ACTA1-related disorder ⚠
- p.Asp224His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp246Glu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp27= Single submitter familial restrictive cardiomyopathy
- p.Asp27Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp294Glu Single submitter ⚠
- p.Asp294Tyr Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Asp313His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp3Glu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp53Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Cys376Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gln248Lys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gln51His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu169Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu197Asp Single submitter ⚠
- p.Glu209Asp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu243Gln Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu243Lys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu318Asp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu363Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu4Gly Single submitter Inborn genetic diseases ⚠
- p.Glu59Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Glu95Gln Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly160= Single submitter familial restrictive cardiomyopathy
- p.Gly160Arg Single submitter ⚠
- p.Gly22Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly247Trp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly253Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly25Glu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly303Ala Single submitter Inborn genetic diseases ⚠
- p.Gly344Arg Single submitter ⚠
- p.Gly344Asp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly344Ser Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly345Ser Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly44Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Gly50Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.His75Asn Single submitter ⚠
- p.Ile124Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile210Met Single submitter myopathy ⚠
- p.Ile214Val Single submitter ACTA1-related disorder ⚠
- p.Ile269Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile276Pro Single submitter
- p.Ile289Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile329Thr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ile343Met Single submitter ⚠
- p.Ile343Val Single submitter progressive scapulohumeroperoneal distal myopathy ⚠
- p.Ile371Met Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu142Arg Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu144Pro Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu195Val Single submitter ⚠
- p.Leu322= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu322_Ala323del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Leu322Gln Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu322Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Leu351Pro Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Lys120Gln Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Lys217Arg Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Lys330fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Lys338Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Lys70= Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met178Leu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Met1Ile Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Met1Val Single submitter congenital fiber-type disproportion myopathy
- p.Met327Ile Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Met357Val Single submitter ⚠
- p.Met49Thr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Phe202Leu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Phe23Leu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Phe268Val Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Phe354Gly Single submitter congenital myopathy 2c, severe infantile, autosomal dominant
- p.Pro100His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro104His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro111_Ala116del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro114Leu Single submitter ⚠
- p.Pro132Ser Single submitter Inborn genetic diseases ⚠
- p.Pro174Arg Single submitter ⚠
- p.Pro266Leu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro266Ser Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro324Thr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro334fs Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Pro369His Single submitter myopathy ⚠
- p.Pro40Arg Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Pro72Leu Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser143Phe Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser237del Single submitter congenital myopathy 2a, typical, autosomal dominant
- p.Ser237Pro Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser267Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser273Trp Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser325Arg Single submitter ⚠
- p.Ser340Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser340Trp Single submitter ⚠
- p.Ser350Trp Single submitter ⚠
- p.Ser352Phe Single submitter ⚠
- p.Ser35Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ser370Tyr Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr108Ile Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr150Ile Single submitter Intranuclear rod myopathy ⚠
- p.Thr151Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr279Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr326_Met327insThr Single submitter ACTA1-related congenital myopathy disorders
- p.Thr326Asn Single submitter ⚠
- p.Thr353Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Thr68Ile Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr145Phe Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr220Phe Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr296Cys Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr308His Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr339Asn Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Tyr93His Single submitter congenital myopathy 2b, severe infantile, autosomal recessive ⚠
- p.Val131Ala Single submitter ⚠
- p.Val131Met Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Val136Ala Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Val19Met Single submitter ACTA1-related disorder ⚠
- p.Val221Leu Single submitter alpha-actinopathy ⚠
- p.Val249Phe Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Val300Phe Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Val32Met Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Val45Ile Single submitter congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Ala183Pro No assertion criteria congenital myopathy 2a, typical, autosomal dominant ⚠
- p.Asp83Asn No assertion criteria ACTA1-related disorder ⚠
- p.Ile153Leu No assertion criteria ACTA1-related disorder ⚠
- p.Leu218Gln No assertion criteria congenital myopathy 2a, typical, autosomal dominant ⚠