STAC3 — 298 ClinVar variants
All ClinVar germline STAC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →
9 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 15 Benign · 4 Benign/Likely benign · 126 Likely benign · 136 Uncertain significance
Full STAC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 111
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 lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
STAC3 p.Ala341Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Arg321His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Asn174Ser
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu210Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Glu212Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Glu51Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Gly142Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Gly142Ser
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly57Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Ile63Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Leu84Arg
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro12Ala
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro221His
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro269Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Thr314Met
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Val53Met
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Ala107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Ala163Thr
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg19Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
- STAC3 p.Asn174His Uncertain significance Single submitter
-
STAC3 p.Asn49Asp
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Asn49Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Asp167Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Asp87Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Asp94Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
- STAC3 p.Cys103Arg Uncertain significance Single submitter
- STAC3 p.Cys106Phe Uncertain significance Single submitter
-
STAC3 p.Cys131Ser
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Cys140Ser
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Cys164Ser
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gln132Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu208Gln
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu218Lys
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu8Asp
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly195Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly224Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly228Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Gly56Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly57Ala
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly57Val
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.His149Tyr
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile110Thr
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile127Val
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile326Met
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile333Met
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile60Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Leu23Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Leu361Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Leu42Pro
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Lys231Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Lys38Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Lys93Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Phe116Tyr
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Phe97Val
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro146Ala
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro244Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Pro269Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro43Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Pro77Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Pro78Ala
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ser133Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Ser158Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ser9Tyr
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Thr358Ile
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Val293Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 46
The independent predictors disagree with each other — read with care.
-
STAC3 p.Arg173Cys
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg351Leu
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Asn281Ser
Benign
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Asn299Asp
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu74Gly
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly147Asp
Uncertain significance
Multiple submitters
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile364Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Lys98Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Tyr157Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAC3 p.Val177Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAC3 p.Arg119His Uncertain significance Single submitter
-
STAC3 p.Arg150Gln
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg173Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg182Ser
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg192Trp
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg19Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Arg257Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg25Trp
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Arg286Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Arg312His
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Asn113Lys
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Asp267His
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gln138Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Gln336His
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Glu308Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Glu73Gln
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Gly342Cys
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.His311Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ile302Phe
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Leu112Phe
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Lys329Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Lys88Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Met187Lys
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Phe116Cys
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Phe258Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Phe295Leu
Likely benign
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro100Leu
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Pro298Arg
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ser153Asn
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ser249Phe
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Ser34Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Val135Ala
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Val185Ala
Uncertain significance
Single submitter
Bailey-Bloch congenital myopathy
-
STAC3 p.Val185Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Val313Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAC3 p.Val334Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All STAC3 variants
Pathogenic 9
- p.Ala232fs Single submitter Bailey-Bloch congenital myopathy
- p.Gln247Ter Single submitter Bailey-Bloch congenital myopathy
- p.Gln28Ter Single submitter
- p.His128fs Single submitter Bailey-Bloch congenital myopathy
- p.Leu255fs Single submitter Bailey-Bloch congenital myopathy
- p.Lys38Ter Single submitter Bailey-Bloch congenital myopathy
- p.Pro100fs Single submitter Bailey-Bloch congenital myopathy
- p.Tyr157fs Single submitter Bailey-Bloch congenital myopathy
- c.997-1G>T No assertion criteria Bailey-Bloch congenital myopathy
Pathogenic/Likely pathogenic 3
- p.Lys273fs Multiple submitters STAC3-related disorder
- p.Lys288Ter Multiple submitters Bailey-Bloch congenital myopathy
- p.Trp284Ser Multiple submitters Bailey-Bloch congenital myopathy
Likely pathogenic 4
- c.432+1G>A Single submitter Bailey-Bloch congenital myopathy
- c.670+2T>A Single submitter Bailey-Bloch congenital myopathy
- p.Leu30fs Single submitter congenital myopathy
- p.Val111fs Single submitter Bailey-Bloch congenital myopathy
Conflicting classifications of pathogenicity 1
- c.432+4A>T Single submitter Bailey-Bloch congenital myopathy
Benign 15
- c.433-250C>T Multiple submitters
- c.604-196G>A Multiple submitters
- c.604-8C>T Multiple submitters Bailey-Bloch congenital myopathy
- c.66+30dup Multiple submitters Bailey-Bloch congenital myopathy
- c.*2C>T Multiple submitters
- p.Asn281Ser Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Lys190= Multiple submitters Bailey-Bloch congenital myopathy
- c.432+24_432+25insAAGGTGTAGA Single submitter
- c.433-198dup Single submitter
- c.506-123G>A Single submitter
- c.604-179dup Single submitter
- c.604-269_604-267del Single submitter
- c.721-3del Single submitter Bailey-Bloch congenital myopathy
- c.997-24A>G Single submitter
- c.-1-266T>C Single submitter
Benign/Likely benign 4
- c.996+17A>T Multiple submitters Bailey-Bloch congenital myopathy
- c.-1G>A Multiple submitters
- p.Arg119Cys Multiple submitters Bailey-Bloch congenital myopathy
- p.Glu362= Multiple submitters Bailey-Bloch congenital myopathy
Likely benign 126
- c.433-15C>T Multiple submitters Bailey-Bloch congenital myopathy
- c.433-19dup Multiple submitters Bailey-Bloch congenital myopathy
- c.670+33G>A Multiple submitters
- c.671-20G>A Multiple submitters Bailey-Bloch congenital myopathy
- p.Ala171= Multiple submitters Bailey-Bloch congenital myopathy
- p.Asn86= Multiple submitters Bailey-Bloch congenital myopathy
- p.Gly290= Multiple submitters Bailey-Bloch congenital myopathy
- p.Pro221= Multiple submitters Bailey-Bloch congenital myopathy
- c.334+13G>A Single submitter Bailey-Bloch congenital myopathy
- c.334+14G>A Single submitter Bailey-Bloch congenital myopathy
- c.334+7C>T Single submitter Bailey-Bloch congenital myopathy
- c.334+9T>C Single submitter Bailey-Bloch congenital myopathy
- c.335-10C>T Single submitter Bailey-Bloch congenital myopathy
- c.335-9T>C Single submitter Bailey-Bloch congenital myopathy
- c.432+11T>C Single submitter Bailey-Bloch congenital myopathy
- c.432+143G>A Single submitter
- c.432+15G>A Single submitter
- c.432+17G>A Single submitter Bailey-Bloch congenital myopathy
- c.432+20C>G Single submitter Bailey-Bloch congenital myopathy
- c.432+97C>T Single submitter
- c.433-180del Single submitter
- c.433-183_433-180del Single submitter
- c.433-19C>G Single submitter Bailey-Bloch congenital myopathy
- c.433-20C>G Single submitter Bailey-Bloch congenital myopathy
- c.505+13T>C Single submitter Bailey-Bloch congenital myopathy
- c.505+14A>G Single submitter Bailey-Bloch congenital myopathy
- c.505+15T>C Single submitter Bailey-Bloch congenital myopathy
- c.505+20C>T Single submitter Bailey-Bloch congenital myopathy
- c.505+7G>A Single submitter Bailey-Bloch congenital myopathy
- c.505+9C>T Single submitter Bailey-Bloch congenital myopathy
- c.506-15C>T Single submitter Bailey-Bloch congenital myopathy
- c.506-19T>C Single submitter Bailey-Bloch congenital myopathy
- c.506-22_506-20del Single submitter Bailey-Bloch congenital myopathy
- c.506-3T>C Single submitter
- c.506-6G>T Single submitter Bailey-Bloch congenital myopathy
- c.506-7C>T Single submitter Bailey-Bloch congenital myopathy
- c.603+10G>A Single submitter Bailey-Bloch congenital myopathy
- c.603+7A>G Single submitter Bailey-Bloch congenital myopathy
- c.604-165del Single submitter
- c.604-167_604-165dup Single submitter
- c.604-28G>A Single submitter
- c.604-7C>T Single submitter Bailey-Bloch congenital myopathy
- c.66+10G>A Single submitter Bailey-Bloch congenital myopathy
- c.66+11G>A Single submitter Bailey-Bloch congenital myopathy
- c.66+19C>T Single submitter Bailey-Bloch congenital myopathy
- c.66+8T>C Single submitter Bailey-Bloch congenital myopathy
- c.67-13C>T Single submitter Bailey-Bloch congenital myopathy
- c.67-5C>T Single submitter Bailey-Bloch congenital myopathy
- c.670+19C>T Single submitter Bailey-Bloch congenital myopathy
- c.671-10C>G Single submitter Bailey-Bloch congenital myopathy
- c.671-17G>C Single submitter Bailey-Bloch congenital myopathy
- c.720+18del Single submitter Bailey-Bloch congenital myopathy
- c.720+19_720+20insAAGAATCCTTCCTCCCTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAATAGAGTGACCCAACATCGCGAACAACAACCCCGTCCCGGAGAGAGATCGGTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter Bailey-Bloch congenital myopathy
- c.720+44A>G Single submitter
- c.720+9C>A Single submitter Bailey-Bloch congenital myopathy
- c.720+9C>G Single submitter
- c.721-15C>T Single submitter Bailey-Bloch congenital myopathy
- c.806+8G>T Single submitter Bailey-Bloch congenital myopathy
- c.807-12T>C Single submitter Bailey-Bloch congenital myopathy
- c.807-13C>T Single submitter Bailey-Bloch congenital myopathy
- c.807-16T>C Single submitter Bailey-Bloch congenital myopathy
- c.807-5C>A Single submitter Bailey-Bloch congenital myopathy
- c.858+14C>A Single submitter Bailey-Bloch congenital myopathy
- c.859-11_859-8dup Single submitter Bailey-Bloch congenital myopathy
- c.859-18C>G Single submitter Bailey-Bloch congenital myopathy
- c.859-20C>T Single submitter Bailey-Bloch congenital myopathy
- c.859-4C>A Single submitter Bailey-Bloch congenital myopathy
- c.859-4C>T Single submitter Bailey-Bloch congenital myopathy
- c.996+17A>G Single submitter Bailey-Bloch congenital myopathy
- c.997-14_997-7del Single submitter Bailey-Bloch congenital myopathy
- c.997-14C>T Single submitter Bailey-Bloch congenital myopathy
- c.997-19T>C Single submitter Bailey-Bloch congenital myopathy
- c.997-5_997-3del Single submitter Bailey-Bloch congenital myopathy
- c.997-60_997-58del Single submitter
- c.997-6T>C Single submitter Bailey-Bloch congenital myopathy
- c.997-6T>G Single submitter Bailey-Bloch congenital myopathy
- c.997-9A>T Single submitter Bailey-Bloch congenital myopathy
- c.-1-123G>A Single submitter
- c.-1-201G>C Single submitter
- p.Ala341= Single submitter Bailey-Bloch congenital myopathy
- p.Arg108= Single submitter Bailey-Bloch congenital myopathy
- p.Arg139= Single submitter Bailey-Bloch congenital myopathy
- p.Arg173= Single submitter Bailey-Bloch congenital myopathy
- p.Arg173His Single submitter Bailey-Bloch congenital myopathy
- p.Arg321= Single submitter Bailey-Bloch congenital myopathy
- p.Asn174= Single submitter Bailey-Bloch congenital myopathy
- p.Asn281= Single submitter Bailey-Bloch congenital myopathy
- p.Asp278= Single submitter Bailey-Bloch congenital myopathy
- p.Asp331= Single submitter Bailey-Bloch congenital myopathy
- p.Gln222= Single submitter Bailey-Bloch congenital myopathy
- p.Gln248= Single submitter Bailey-Bloch congenital myopathy
- p.Gln47= Single submitter Bailey-Bloch congenital myopathy
- p.Glu322= Single submitter Bailey-Bloch congenital myopathy
- p.Glu72= Single submitter Bailey-Bloch congenital myopathy
- p.Glu74= Single submitter Bailey-Bloch congenital myopathy
- p.Glu76= Single submitter Bailey-Bloch congenital myopathy
- p.Gly147= Single submitter Bailey-Bloch congenital myopathy
- p.Gly338= Single submitter Bailey-Bloch congenital myopathy
- p.Gly343= Single submitter Bailey-Bloch congenital myopathy
- p.His149= Single submitter Bailey-Bloch congenital myopathy
- p.His90= Single submitter Bailey-Bloch congenital myopathy
- p.Ile277= Single submitter Bailey-Bloch congenital myopathy
- p.Leu181= Single submitter Bailey-Bloch congenital myopathy
- p.Leu261= Single submitter Bailey-Bloch congenital myopathy
- p.Leu7= Single submitter Bailey-Bloch congenital myopathy
- p.Lys273= Single submitter Bailey-Bloch congenital myopathy
- p.Lys83= Single submitter Bailey-Bloch congenital myopathy
- p.Lys88= Single submitter Bailey-Bloch congenital myopathy
- p.Lys91= Single submitter Bailey-Bloch congenital myopathy
- p.Phe141= Single submitter Bailey-Bloch congenital myopathy
- p.Phe295Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Phe356= Single submitter Bailey-Bloch congenital myopathy
- p.Phe92= Single submitter Bailey-Bloch congenital myopathy
- p.Pro100= Single submitter Bailey-Bloch congenital myopathy
- p.Pro155= Single submitter Bailey-Bloch congenital myopathy
- p.Pro237= Single submitter
- p.Pro298= Single submitter Bailey-Bloch congenital myopathy
- p.Pro43= Single submitter Bailey-Bloch congenital myopathy
- p.Thr125= Single submitter Bailey-Bloch congenital myopathy
- p.Thr37= Single submitter Bailey-Bloch congenital myopathy
- p.Tyr134= Single submitter Bailey-Bloch congenital myopathy
- p.Tyr162= Single submitter Bailey-Bloch congenital myopathy
- p.Val165= Single submitter Bailey-Bloch congenital myopathy
- p.Val293= Single submitter Bailey-Bloch congenital myopathy
- p.Val313= Single submitter
- p.Val318= Single submitter Bailey-Bloch congenital myopathy
Uncertain significance 136
- p.Ala341Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg108Gln Multiple submitters Bailey-Bloch congenital myopathy
- p.Arg173Cys Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Arg182His Multiple submitters Bailey-Bloch congenital myopathy
- p.Arg321His Multiple submitters Inborn genetic diseases ⚠
- p.Arg351Leu Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Asn174Ser Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Asn299Asp Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Glu210Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu212Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu51Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu74Gly Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Glu75_Glu76del Multiple submitters Bailey-Bloch congenital myopathy
- p.Gly142Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly142Ser Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Gly147Asp Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Gly57Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile364Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile63Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu84Arg Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Lys98Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro12Ala Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Pro221His Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Pro269Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr314Met Multiple submitters Bailey-Bloch congenital myopathy ⚠
- p.Tyr157Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val177Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val53Met Multiple submitters Bailey-Bloch congenital myopathy ⚠
- c.334+3G>T Single submitter Bailey-Bloch congenital myopathy
- c.433-13T>G Single submitter
- c.505+6T>G Single submitter Bailey-Bloch congenital myopathy
- c.66+3G>A Single submitter Bailey-Bloch congenital myopathy
- c.670+3del Single submitter Bailey-Bloch congenital myopathy
- c.720+6A>G Single submitter Bailey-Bloch congenital myopathy
- c.859-13C>G Single submitter
- c.996+1G>A Single submitter Bailey-Bloch congenital myopathy
- c.996+3A>G Single submitter Bailey-Bloch congenital myopathy
- c.996+4G>A Single submitter Bailey-Bloch congenital myopathy
- c.997-1G>C Single submitter Bailey-Bloch congenital myopathy
- p.Ala107Ser Single submitter Inborn genetic diseases ⚠
- p.Ala163Thr Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg119His Single submitter ⚠
- p.Arg139Thr Single submitter Bailey-Bloch congenital myopathy
- p.Arg150Gln Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg173Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg182Ser Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg192Trp Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg19Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg19Trp Single submitter Inborn genetic diseases ⚠
- p.Arg257Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg25Trp Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Arg286Gln Single submitter Inborn genetic diseases ⚠
- p.Arg312His Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Asn113Lys Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Asn114del Single submitter Bailey-Bloch congenital myopathy
- p.Asn174His Single submitter ⚠
- p.Asn49Asp Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Asn49Ser Single submitter Inborn genetic diseases ⚠
- p.Asp167Glu Single submitter Inborn genetic diseases ⚠
- p.Asp267His Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Asp359Gly Single submitter Inborn genetic diseases
- p.Asp87Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Asp94Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Cys103Arg Single submitter ⚠
- p.Cys106Phe Single submitter ⚠
- p.Cys131_Gln132insHis Single submitter Bailey-Bloch congenital myopathy
- p.Cys131Ser Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Cys140Ser Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Cys164Ser Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gln132Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gln138Arg Single submitter Inborn genetic diseases ⚠
- p.Gln336His Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Glu208Gln Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Glu218Lys Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Glu308Asp Single submitter Inborn genetic diseases ⚠
- p.Glu322Ter Single submitter Bailey-Bloch congenital myopathy
- p.Glu73Gln Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Glu75_Glu76dup Single submitter Bailey-Bloch congenital myopathy
- p.Glu76del Single submitter Bailey-Bloch congenital myopathy
- p.Glu76dup Single submitter Bailey-Bloch congenital myopathy
- p.Glu8Asp Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly195Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly224Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly228Arg Single submitter Inborn genetic diseases ⚠
- p.Gly324fs Single submitter Bailey-Bloch congenital myopathy
- p.Gly342Cys Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly56Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly57Ala Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Gly57Val Single submitter Bailey-Bloch congenital myopathy ⚠
- p.His149Tyr Single submitter Bailey-Bloch congenital myopathy ⚠
- p.His311Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile110Thr Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile127Val Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile302Phe Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile326Met Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile333= Single submitter Bailey-Bloch congenital myopathy
- p.Ile333Met Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ile60Leu Single submitter Inborn genetic diseases ⚠
- p.Leu112Phe Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Leu23Ile Single submitter Inborn genetic diseases ⚠
- p.Leu361Pro Single submitter Inborn genetic diseases ⚠
- p.Leu42Pro Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Lys231Thr Single submitter Inborn genetic diseases ⚠
- p.Lys329Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Lys38Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Lys88Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Lys93Arg Single submitter Inborn genetic diseases ⚠
- p.Met187Lys Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Phe116Cys Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Phe116Tyr Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Phe258Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Phe97Val Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro100Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro146Ala Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro244Arg Single submitter Inborn genetic diseases ⚠
- p.Pro269Leu Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro298Arg Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro43Ser Single submitter Inborn genetic diseases ⚠
- p.Pro77Ser Single submitter Inborn genetic diseases ⚠
- p.Pro78Ala Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Pro89Ser Single submitter Inborn genetic diseases
- p.Ser133Thr Single submitter Inborn genetic diseases ⚠
- p.Ser153Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ser153Thr Single submitter
- p.Ser158Asn Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ser249Phe Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Ser34Cys Single submitter Inborn genetic diseases ⚠
- p.Ser9Tyr Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Thr358Ile Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Tyr62del Single submitter Bailey-Bloch congenital myopathy
- p.Val135Ala Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Val185Ala Single submitter Bailey-Bloch congenital myopathy ⚠
- p.Val185Leu Single submitter Inborn genetic diseases ⚠
- p.Val293Ile Single submitter Inborn genetic diseases ⚠
- p.Val313Leu Single submitter Inborn genetic diseases ⚠
- p.Val334Leu Single submitter Inborn genetic diseases ⚠