TPM3 — 402 ClinVar variants
All ClinVar germline TPM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
13 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 17 Conflicting · 13 Benign · 9 Benign/Likely benign · 110 Likely benign · 215 Uncertain significance
Full TPM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TPM3 p.Ala46Val
Likely pathogenic
Single submitter
congenital fiber-type disproportion myopathy
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TPM3 p.Arg134Gln
Conflicting
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp15His
Conflicting
Single submitter
congenital fiber-type disproportion myopathy
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
TPM3 c.642+2T>C
Conflicting
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg183Ter
Conflicting
Single submitter
TPM3-related myopathy
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TPM3 p.Ala212Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM3 p.Ala4Val
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg22Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM3 p.Arg239Cys
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp138His
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Leu20Pro
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Leu279Val
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Met282Val
Uncertain significance
Multiple submitters
congenital fiber-type disproportion myopathy
-
TPM3 p.Ser246Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TPM3 p.Tyr222Phe
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ala110Val
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ala156Thr
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Ala187Gly Uncertain significance Single submitter
- TPM3 p.Ala243Val Uncertain significance Single submitter
-
TPM3 p.Ala4Thr
Uncertain significance
Single submitter
congenital myopathy 4A, autosomal dominant
-
TPM3 p.Ala79Pro
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Ala82Pro Uncertain significance Single submitter
-
TPM3 p.Ala82Val
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg106His
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg168Leu
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Arg183Gln Uncertain significance Single submitter
- TPM3 p.Arg239Gly Uncertain significance Single submitter
- TPM3 p.Asn200Ser Uncertain significance Single submitter
-
TPM3 p.Asn90Lys
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Asp101Asn
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Asp138Asn Uncertain significance Single submitter
-
TPM3 p.Asp138Gly
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Asp160Asn Uncertain significance Single submitter
-
TPM3 p.Asp160Glu
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp231Gly
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Asp255Asn
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp259Val
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Asp59Asn
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp59Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM3 p.Gln112His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM3 p.Glu116Lys
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
- TPM3 p.Glu151Lys Uncertain significance Single submitter
-
TPM3 p.Glu165Ala
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Glu165Gly
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
- TPM3 p.Glu182Lys Uncertain significance Single submitter
- TPM3 p.Glu197Val Uncertain significance Single submitter
-
TPM3 p.Glu237Lys
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Glu241Asp
Uncertain significance
Single submitter
congenital myopathy 4A, autosomal dominant
-
TPM3 p.Glu274Ala
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Glu29Ala
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Glu29Lys
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Glu3Ala
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Glu3Gly
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Glu41Asp Uncertain significance Single submitter
-
TPM3 p.Glu43Asp
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Glu55Lys
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Glu97Lys
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Glu99Asp Uncertain significance Single submitter
-
TPM3 p.Ile173Asn
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ile254Thr
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ile271Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM3 p.Leu107Pro
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Leu114Pro
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
- TPM3 p.Leu144Pro Uncertain significance Single submitter
-
TPM3 p.Leu95Pro
Uncertain significance
Single submitter
congenital myopathy 4A, autosomal dominant
- TPM3 p.Lys153Asn Uncertain significance Single submitter
- TPM3 p.Lys162Glu Uncertain significance Single submitter
- TPM3 p.Lys16Thr Uncertain significance Single submitter
- TPM3 p.Lys221Gln Uncertain significance Single submitter
- TPM3 p.Lys265Asn Uncertain significance Single submitter
- TPM3 p.Lys6Asn Uncertain significance Single submitter
-
TPM3 p.Lys71Met
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Lys7Glu
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Met282Lys
Uncertain significance
Single submitter
congenital myopathy 4A, autosomal dominant
- TPM3 p.Met2Val Uncertain significance Single submitter
-
TPM3 p.Ser272Arg
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
- TPM3 p.Ser272Asn Uncertain significance Single submitter
-
TPM3 p.Ser88Pro
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Tyr262Asp
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Tyr262Cys
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Tyr61His
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
Predictors split 15
The independent predictors disagree with each other — read with care.
-
TPM3 p.His277Asn
Uncertain significance
Multiple submitters
congenital fiber-type disproportion myopathy
-
TPM3 p.Ile285Val
Uncertain significance
Multiple submitters
congenital fiber-type disproportion myopathy
-
TPM3 p.Ser189Cys
Uncertain significance
Multiple submitters
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ala263Gly
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ala28Val
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg134Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TPM3 p.Arg22Gln
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Arg239His
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Asp42Asn
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Gln30Glu
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Ile131Val
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Ile254Val
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Leu40Val
Uncertain significance
Single submitter
congenital fiber-type disproportion myopathy
-
TPM3 p.Lys227Arg
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
-
TPM3 p.Lys252Arg
Uncertain significance
Single submitter
congenital myopathy 4B, autosomal recessive
All TPM3 variants
Pathogenic 13
- p.Arg168Cys Multiple submitters Inborn genetic diseases
- p.Arg168His Multiple submitters TPM3-related disorder
- p.Gln32Ter Multiple submitters congenital myopathy 4A, autosomal dominant
- p.Arg91Pro Single submitter congenital fiber-type disproportion myopathy
- p.Gln30fs Single submitter congenital fiber-type disproportion myopathy
- p.Glu151Ala Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu100Met Single submitter TPM3-related disorder
- p.Met47fs Single submitter congenital myopathy 4A, autosomal dominant
- p.Thr230fs Single submitter congenital fiber-type disproportion myopathy
- p.Thr253Lys Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu225del No assertion criteria congenital myopathy 4A, autosomal dominant
- p.Leu149Ile No assertion criteria congenital myopathy 4A, autosomal dominant
- p.Met9Arg No assertion criteria congenital myopathy 4A, autosomal dominant
Pathogenic/Likely pathogenic 4
- c.118-12G>A Multiple submitters congenital fiber-type disproportion myopathy
- p.Ala152Val Multiple submitters congenital myopathy 4B, autosomal recessive
- p.Arg168Gly Multiple submitters TPM3-related core myopathy
- p.Arg91Cys Multiple submitters congenital myopathy 4B, autosomal recessive
Likely pathogenic 21
- p.Arg91His Multiple submitters congenital myopathy 4B, autosomal recessive
- c.117+1G>A Single submitter TPM3-related disorder
- c.243+1G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.377+863_775+422del Single submitter congenital myopathy 4B, autosomal recessive
- p.Ala120fs Single submitter
- p.Ala46Val Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Arg179Cys Single submitter congenital fiber-type disproportion myopathy
- p.Arg245Ile Single submitter myopathy
- p.Arg91Gly Single submitter congenital myopathy 4B, autosomal recessive
- p.Asp15Asn Single submitter congenital myopathy 4B, autosomal recessive
- p.Asp15Val Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu151Gly Single submitter congenital myopathy 4A, autosomal dominant
- p.Glu219del Single submitter congenital myopathy 4A, autosomal dominant
- p.Glu3Gln Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu73Ter Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu100Val Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu14Ter Single submitter congenital myopathy 4B, autosomal recessive
- p.Lys13fs Single submitter
- p.Ter286AsnextTer? Single submitter congenital myopathy 4B, autosomal recessive
- p.Ter286Gln Single submitter
- p.Ter286Ser Single submitter congenital myopathy 4B, autosomal recessive
Conflicting classifications of pathogenicity 17
- c.118-3T>C Single submitter congenital fiber-type disproportion myopathy
- c.378-13C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.495+7G>C Single submitter congenital fiber-type disproportion myopathy
- c.642+2T>C Single submitter congenital myopathy 4B, autosomal recessive ⚠
- c.643-3C>T Single submitter congenital fiber-type disproportion myopathy
- c.*1077A>C Single submitter congenital fiber-type disproportion myopathy
- c.*1152C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*157C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5594G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*5640C>T Single submitter congenital fiber-type disproportion myopathy
- p.Arg134Gln Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg183Ter Single submitter TPM3-related myopathy ⚠
- p.Asp15His Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu83= Single submitter congenital fiber-type disproportion myopathy
- p.His277= Single submitter congenital fiber-type disproportion myopathy
- p.Thr109= Single submitter congenital myopathy 4B, autosomal recessive
- p.Tyr268= Single submitter congenital myopathy 4B, autosomal recessive
Benign 13
- c.117+239T>G Multiple submitters
- c.118-295G>A Multiple submitters
- c.243+136C>G Multiple submitters
- c.495+28G>C Multiple submitters
- c.566+703T>A Multiple submitters
- c.776-49T>C Multiple submitters congenital fiber-type disproportion myopathy
- c.244-7340G>C Single submitter
- c.567-104CT[5] Single submitter
- c.*1291A>G Single submitter congenital fiber-type disproportion myopathy
- c.*1791G>A Single submitter congenital fiber-type disproportion myopathy
- c.*2069C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*2409G>C Single submitter congenital myopathy 4B, autosomal recessive
- c.*389G>A Single submitter
Benign/Likely benign 9
- c.243+11GA[2] Multiple submitters congenital fiber-type disproportion myopathy
- c.566+18C>G Multiple submitters congenital myopathy 4B, autosomal recessive
- p.Lys31Thr Multiple submitters congenital fiber-type disproportion myopathy
- c.*1130C>T Single submitter congenital fiber-type disproportion myopathy
- c.*3497T>C Single submitter congenital fiber-type disproportion myopathy
- c.*4062G>A Single submitter congenital fiber-type disproportion myopathy
- c.*4154C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5149G>A Single submitter congenital fiber-type disproportion myopathy
- c.*878A>G Single submitter congenital fiber-type disproportion myopathy
Likely benign 110
- c.118-276T>C Multiple submitters
- c.566+183G>A Multiple submitters
- c.642+103G>A Multiple submitters
- c.665-1000C>T Multiple submitters
- c.775+22T>C Multiple submitters
- c.776-8C>T Multiple submitters congenital myopathy 4B, autosomal recessive
- c.854+20G>A Multiple submitters congenital fiber-type disproportion myopathy
- p.Ala212= Multiple submitters congenital myopathy 4B, autosomal recessive
- p.Ala82= Multiple submitters congenital fiber-type disproportion myopathy
- p.Gln48= Multiple submitters congenital fiber-type disproportion myopathy
- p.Leu114= Multiple submitters congenital myopathy 4B, autosomal recessive
- p.Lys113= Multiple submitters congenital fiber-type disproportion myopathy
- c.117+10G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.117+14T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.118-11G>C Single submitter congenital myopathy 4B, autosomal recessive
- c.118-16C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.118-17dup Single submitter congenital myopathy 4B, autosomal recessive
- c.118-18C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.118-19A>T Single submitter congenital myopathy 4B, autosomal recessive
- c.118-20G>C Single submitter congenital myopathy 4B, autosomal recessive
- c.243+17T>C Single submitter congenital fiber-type disproportion myopathy
- c.244-173TA[3] Single submitter
- c.244-20A>G Single submitter congenital fiber-type disproportion myopathy
- c.378-11A>G Single submitter congenital myopathy 4B, autosomal recessive
- c.378-11A>T Single submitter congenital myopathy 4B, autosomal recessive
- c.378-13C>G Single submitter congenital fiber-type disproportion myopathy
- c.378-16G>T Single submitter congenital fiber-type disproportion myopathy
- c.495+10C>G Single submitter congenital myopathy 4B, autosomal recessive
- c.495+12T>G Single submitter congenital fiber-type disproportion myopathy
- c.495+13C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.495+7G>A Single submitter congenital fiber-type disproportion myopathy
- c.495+9C>G Single submitter congenital fiber-type disproportion myopathy
- c.566+13C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.566+14T>G Single submitter congenital myopathy 4B, autosomal recessive
- c.566+531G>A Single submitter
- c.567-13A>C Single submitter congenital myopathy 4B, autosomal recessive
- c.567-570C>G Single submitter
- c.567-94A>G Single submitter
- c.567-9T>C Single submitter congenital fiber-type disproportion myopathy
- c.642+10G>T Single submitter
- c.642+218G>T Single submitter
- c.642+8C>G Single submitter congenital myopathy 4B, autosomal recessive
- c.643-13A>C Single submitter congenital fiber-type disproportion myopathy
- c.643-18A>C Single submitter congenital myopathy 4B, autosomal recessive
- c.643-19T>A Single submitter congenital fiber-type disproportion myopathy
- c.643-20T>A Single submitter
- c.643-8_643-4del Single submitter congenital myopathy 4B, autosomal recessive
- c.643-8T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.705+12_705+16dup Single submitter congenital myopathy 4B, autosomal recessive
- c.705+19T>C Single submitter congenital fiber-type disproportion myopathy
- c.706-11A>G Single submitter congenital myopathy 4B, autosomal recessive
- c.706-13A>G Single submitter congenital fiber-type disproportion myopathy
- c.706-4C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.706-5C>G Single submitter congenital myopathy 4B, autosomal recessive
- c.706-6C>T Single submitter congenital fiber-type disproportion myopathy
- c.706-8T>G Single submitter congenital fiber-type disproportion myopathy
- c.706-9T>A Single submitter congenital myopathy 4B, autosomal recessive
- c.775+15G>C Single submitter congenital fiber-type disproportion myopathy
- c.775+20G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.775+7A>G Single submitter congenital myopathy 4B, autosomal recessive
- c.776-10G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.776-15C>T Single submitter congenital fiber-type disproportion myopathy
- c.776-6G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.776-6G>C Single submitter congenital myopathy 4B, autosomal recessive
- c.854+10T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.854+8T>C Single submitter congenital fiber-type disproportion myopathy
- c.855-17C>G Single submitter
- c.855-19T>G Single submitter congenital myopathy 4B, autosomal recessive
- c.855-20A>G Single submitter congenital myopathy 4B, autosomal recessive
- c.855-6A>T Single submitter congenital myopathy 4B, autosomal recessive
- c.855-8T>A Single submitter congenital myopathy 4B, autosomal recessive
- c.-33G>A Single submitter
- c.*2138T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.*4876C>T Single submitter congenital fiber-type disproportion myopathy
- c.*4940C>G Single submitter congenital fiber-type disproportion myopathy
- c.*5701C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*780A>G Single submitter congenital fiber-type disproportion myopathy
- p.Ala184= Single submitter congenital myopathy 4B, autosomal recessive
- p.Ala270= Single submitter
- p.Arg161= Single submitter congenital myopathy 4B, autosomal recessive
- p.Arg91= Single submitter congenital fiber-type disproportion myopathy
- p.Asn204= Single submitter congenital fiber-type disproportion myopathy
- p.Asp259= Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu182= Single submitter congenital fiber-type disproportion myopathy
- p.Glu197= Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu219= Single submitter congenital fiber-type disproportion myopathy
- p.Glu251= Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu260= Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu57= Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu70= Single submitter congenital fiber-type disproportion myopathy
- p.Glu76= Single submitter congenital fiber-type disproportion myopathy
- p.Gly53= Single submitter congenital fiber-type disproportion myopathy
- p.Leu107= Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu12= Single submitter congenital fiber-type disproportion myopathy
- p.Leu170= Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu186= Single submitter congenital fiber-type disproportion myopathy
- p.Leu20= Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu205= Single submitter congenital fiber-type disproportion myopathy
- p.Leu229= Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu266= Single submitter congenital fiber-type disproportion myopathy
- p.Leu58= Single submitter congenital myopathy 4B, autosomal recessive
- p.Lys141= Single submitter congenital myopathy 4B, autosomal recessive
- p.Lys31= Single submitter congenital fiber-type disproportion myopathy
- p.Lys77= Single submitter congenital myopathy 4B, autosomal recessive
- p.Lys78= Single submitter congenital myopathy 4B, autosomal recessive
- p.Ser207= Single submitter congenital myopathy 4B, autosomal recessive
- p.Ser246= Single submitter congenital myopathy 4B, autosomal recessive
- p.Ser272= Single submitter congenital myopathy 4B, autosomal recessive
- p.Thr238= Single submitter congenital myopathy 4B, autosomal recessive
- p.Thr283= Single submitter congenital myopathy 4B, autosomal recessive
Uncertain significance 215
- c.567-4A>C Multiple submitters congenital myopathy 4B, autosomal recessive
- c.706-2dup Multiple submitters congenital myopathy 4B, autosomal recessive
- c.855-1G>A Multiple submitters congenital fiber-type disproportion myopathy
- p.Ala212Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala278Thr Multiple submitters congenital fiber-type disproportion myopathy
- p.Ala4Val Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.Arg22Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg239Cys Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.Asp138His Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.His277Asn Multiple submitters congenital fiber-type disproportion myopathy ⚠
- p.Ile285Val Multiple submitters congenital fiber-type disproportion myopathy ⚠
- p.Leu20Pro Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.Leu279Val Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.Met282Val Multiple submitters congenital fiber-type disproportion myopathy ⚠
- p.Ser189Cys Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- p.Ser246Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr222Phe Multiple submitters congenital myopathy 4B, autosomal recessive ⚠
- c.118-3_118-2del Single submitter congenital myopathy 4B, autosomal recessive
- c.243+3_243+6del Single submitter congenital myopathy 4B, autosomal recessive
- c.(377+1_387-1 Single submitter congenital myopathy 4B, autosomal recessive
- c.495+3_495+6del Single submitter
- c.642+3A>G Single submitter congenital fiber-type disproportion myopathy
- c.642+4G>T Single submitter congenital fiber-type disproportion myopathy
- c.643-11T>G Single submitter
- c.69-3046CTGAGG[3] Single submitter congenital myopathy 4B, autosomal recessive
- c.705+12G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.706-2_775+3dup Single submitter
- c.706-3C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.706-7C>A Single submitter
- c.775+4T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.775+6G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.776-14C>T Single submitter congenital fiber-type disproportion myopathy
- c.776-18G>T Single submitter congenital fiber-type disproportion myopathy
- c.776-3C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.854+1G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.*1093T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.*1097C>T Single submitter congenital fiber-type disproportion myopathy
- c.*1359G>T Single submitter congenital fiber-type disproportion myopathy
- c.*1397A>G Single submitter congenital fiber-type disproportion myopathy
- c.*1447G>A Single submitter congenital fiber-type disproportion myopathy
- c.*1521G>T Single submitter congenital fiber-type disproportion myopathy
- c.*1652G>A Single submitter congenital fiber-type disproportion myopathy
- c.*1661C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*1964A>G Single submitter congenital fiber-type disproportion myopathy
- c.*1967C>T Single submitter congenital fiber-type disproportion myopathy
- c.*2015T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2035C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*2053G>C Single submitter congenital fiber-type disproportion myopathy
- c.*2101T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2116T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2152C>T Single submitter congenital fiber-type disproportion myopathy
- c.*2220T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2240C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*2295T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2298T>C Single submitter congenital fiber-type disproportion myopathy
- c.*2423G>A Single submitter congenital fiber-type disproportion myopathy
- c.*2544C>T Single submitter congenital fiber-type disproportion myopathy
- c.*254G>A Single submitter congenital fiber-type disproportion myopathy
- c.*2597G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*2630T>A Single submitter congenital fiber-type disproportion myopathy
- c.*2652C>T Single submitter congenital fiber-type disproportion myopathy
- c.*2675T>C Single submitter congenital myopathy 4B, autosomal recessive
- c.*2757C>G Single submitter congenital fiber-type disproportion myopathy
- c.*2774G>C Single submitter congenital fiber-type disproportion myopathy
- c.*283G>C Single submitter congenital fiber-type disproportion myopathy
- c.*3015G>A Single submitter congenital fiber-type disproportion myopathy
- c.*303A>C Single submitter congenital fiber-type disproportion myopathy
- c.*312A>G Single submitter congenital fiber-type disproportion myopathy
- c.*325G>A Single submitter congenital fiber-type disproportion myopathy
- c.*3298A>G Single submitter congenital fiber-type disproportion myopathy
- c.*32C>T Single submitter congenital fiber-type disproportion myopathy
- c.*3481C>T Single submitter congenital fiber-type disproportion myopathy
- c.*3558G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.*3756C>A Single submitter congenital fiber-type disproportion myopathy
- c.*3807G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*3819G>A Single submitter congenital fiber-type disproportion myopathy
- c.*3860C>T Single submitter congenital fiber-type disproportion myopathy
- c.*3872T>C Single submitter congenital fiber-type disproportion myopathy
- c.*406T>C Single submitter congenital fiber-type disproportion myopathy
- c.*4095G>A Single submitter congenital fiber-type disproportion myopathy
- c.*4194G>A Single submitter congenital fiber-type disproportion myopathy
- c.*41C>G Single submitter congenital fiber-type disproportion myopathy
- c.*4287A>G Single submitter congenital fiber-type disproportion myopathy
- c.*4302A>G Single submitter congenital myopathy 4B, autosomal recessive
- c.*4389G>T Single submitter congenital fiber-type disproportion myopathy
- c.*4423G>A Single submitter congenital fiber-type disproportion myopathy
- c.*4443G>T Single submitter congenital fiber-type disproportion myopathy
- c.*4513G>A Single submitter congenital fiber-type disproportion myopathy
- c.*4525G>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*4541T>A Single submitter congenital myopathy 4B, autosomal recessive
- c.*4636G>A Single submitter congenital myopathy 4B, autosomal recessive
- c.*46C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*4806A>C Single submitter congenital fiber-type disproportion myopathy
- c.*482C>T Single submitter congenital fiber-type disproportion myopathy
- c.*4872A>G Single submitter congenital fiber-type disproportion myopathy
- c.*489T>G Single submitter congenital myopathy 4B, autosomal recessive
- c.*4924C>T Single submitter congenital fiber-type disproportion myopathy
- c.*4930G>A Single submitter congenital fiber-type disproportion myopathy
- c.*499C>A Single submitter congenital fiber-type disproportion myopathy
- c.*5204C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5239C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5266T>G Single submitter congenital fiber-type disproportion myopathy
- c.*5406A>G Single submitter congenital fiber-type disproportion myopathy
- c.*5437G>A Single submitter congenital fiber-type disproportion myopathy
- c.*5440A>C Single submitter congenital myopathy 4B, autosomal recessive
- c.*5500C>G Single submitter congenital fiber-type disproportion myopathy
- c.*5583C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5658G>A Single submitter congenital fiber-type disproportion myopathy
- c.*5715C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5755A>G Single submitter congenital fiber-type disproportion myopathy
- c.*5795C>T Single submitter congenital fiber-type disproportion myopathy
- c.*5865A>G Single submitter congenital fiber-type disproportion myopathy
- c.*5870A>T Single submitter congenital fiber-type disproportion myopathy
- c.*5901G>C Single submitter congenital fiber-type disproportion myopathy
- c.*5926T>C Single submitter congenital fiber-type disproportion myopathy
- c.*6097G>T Single submitter congenital fiber-type disproportion myopathy
- c.*61C>A Single submitter congenital fiber-type disproportion myopathy
- c.*656C>T Single submitter congenital fiber-type disproportion myopathy
- c.*88G>T Single submitter congenital fiber-type disproportion myopathy
- c.*903C>T Single submitter congenital myopathy 4B, autosomal recessive
- c.*958C>T Single submitter congenital fiber-type disproportion myopathy
- c.*962C>T Single submitter congenital fiber-type disproportion myopathy
- c.*974C>T Single submitter congenital fiber-type disproportion myopathy
- c.*999G>A Single submitter congenital fiber-type disproportion myopathy
- p.Ala108= Single submitter congenital fiber-type disproportion myopathy
- p.Ala110Val Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ala156Thr Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ala187Gly Single submitter ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala263Gly Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ala28Val Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ala4Thr Single submitter congenital myopathy 4A, autosomal dominant ⚠
- p.Ala79Pro Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ala79Val Single submitter
- p.Ala82Pro Single submitter ⚠
- p.Ala82Val Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg106His Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg134Trp Single submitter Inborn genetic diseases ⚠
- p.Arg168Leu Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg183Gln Single submitter ⚠
- p.Arg223Cys Single submitter
- p.Arg223His Single submitter congenital myopathy 4A, autosomal dominant
- p.Arg22Gln Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg239Gly Single submitter ⚠
- p.Arg239His Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Arg92_Gln94del Single submitter congenital myopathy 4B, autosomal recessive
- p.Asn200Ser Single submitter ⚠
- p.Asn200Tyr Single submitter congenital myopathy 4B, autosomal recessive
- p.Asn90Lys Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Asp101Asn Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Asp138Asn Single submitter ⚠
- p.Asp138Gly Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp160Glu Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Asp231Gly Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Asp255Asn Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Asp259Val Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Asp42Asn Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Asp59Asn Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Asp59Gly Single submitter Inborn genetic diseases ⚠
- p.Gln112His Single submitter Inborn genetic diseases ⚠
- p.Gln30Glu Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu116Lys Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu151Lys Single submitter ⚠
- p.Glu165Ala Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu165Gly Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu182Lys Single submitter ⚠
- p.Glu197Met Single submitter congenital myopathy 4B, autosomal recessive
- p.Glu197Val Single submitter ⚠
- p.Glu237Lys Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu241Asp Single submitter congenital myopathy 4A, autosomal dominant ⚠
- p.Glu274Ala Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu29Ala Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu29Lys Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu3Ala Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu3Gly Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu41Asp Single submitter ⚠
- p.Glu43Asp Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Glu55Lys Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu97Lys Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Glu99Asp Single submitter ⚠
- p.Ile131Val Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Ile173Asn Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ile254Thr Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ile254Val Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Ile271Thr Single submitter Inborn genetic diseases ⚠
- p.Leu107Pro Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Leu114Pro Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu40= Single submitter congenital myopathy 4B, autosomal recessive
- p.Leu40Val Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Leu95Pro Single submitter congenital myopathy 4A, autosomal dominant ⚠
- p.Lys153Asn Single submitter ⚠
- p.Lys153delinsAsnArg Single submitter congenital myopathy 4A, autosomal dominant
- p.Lys162Glu Single submitter ⚠
- p.Lys16Thr Single submitter ⚠
- p.Lys218del Single submitter
- p.Lys221Gln Single submitter ⚠
- p.Lys227Arg Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Lys252Arg Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Lys265Asn Single submitter ⚠
- p.Lys6Asn Single submitter ⚠
- p.Lys71Met Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Lys78del Single submitter congenital myopathy 4B, autosomal recessive
- p.Lys7Glu Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Met142Leu Single submitter congenital myopathy 4A, autosomal dominant
- p.Met282Lys Single submitter congenital myopathy 4A, autosomal dominant ⚠
- p.Met2Val Single submitter ⚠
- p.Ser272Arg Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Ser272Asn Single submitter ⚠
- p.Ser62_Ala64del Single submitter congenital fiber-type disproportion myopathy
- p.Ser88Pro Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Tyr262Asp Single submitter congenital fiber-type disproportion myopathy ⚠
- p.Tyr262Cys Single submitter congenital myopathy 4B, autosomal recessive ⚠
- p.Tyr61His Single submitter congenital myopathy 4B, autosomal recessive ⚠