TNNT1 — 401 ClinVar variants
All ClinVar germline TNNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
20 Pathogenic · 4 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 15 Conflicting · 40 Benign · 7 Benign/Likely benign · 176 Likely benign · 129 Uncertain significance
Full TNNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TNNT1 p.Arg206Gln
Conflicting
Single submitter
Inborn genetic diseases
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.
-
TNNT1 p.Ala144Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Ala25Thr
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Arg107Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Arg172His
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Arg175Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Arg175Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Arg179Trp
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Arg189His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Arg276Cys
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Asp194Asn
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu119Lys
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu12Gln
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu188Gln
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Pro211Thr
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Pro215Leu
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Ser207Pro
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Ser216Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Thr177Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Val46Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Val47Met
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Ala126Pro
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Ala242Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Ala268Thr
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg102Ser
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg107Trp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg124Cys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg143Gln
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg172Cys
Uncertain significance
Single submitter
nemaline myopathy 5
- TNNT1 p.Arg175Gln Uncertain significance Single submitter
-
TNNT1 p.Arg179Gln
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg189Cys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg206Gly
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg206Trp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg220Trp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg257Cys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg265Trp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg272Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Arg272His
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg60Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Arg60Leu
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg60Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Asp194Glu
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Asp239His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Asp64Glu
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Gln214Arg
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu104Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu137Lys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu188Lys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu24Gly
Uncertain significance
Single submitter
nemaline myopathy 5
- TNNT1 p.Glu36Ala Uncertain significance Single submitter
- TNNT1 p.Glu87Lys Uncertain significance Single submitter
-
TNNT1 p.Glu95Gly
Uncertain significance
Single submitter
nemaline myopathy 5
- TNNT1 p.Gly173Asp Uncertain significance Single submitter
-
TNNT1 p.Ile103Thr
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Ile195Thr
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Leu154Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Lys190Arg
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Lys191Asn
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Lys263Arg
Uncertain significance
Single submitter
nemaline myopathy 5
- TNNT1 p.Lys91Glu Uncertain significance Single submitter
-
TNNT1 p.Met133Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Met198Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Met241Ile
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Met241Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Phe86Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Phe86Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Pro218Arg
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Pro31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Pro53Ser
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Thr4Ile
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Tyr197Asp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Tyr249Cys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Val273Ile
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Val32Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Val32Leu
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Val46Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 33
The independent predictors disagree with each other — read with care.
- TNNT1 p.Ala129Val Uncertain significance Multiple submitters
-
TNNT1 p.Arg184Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Arg204Gln
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Asp239Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Gln170Glu
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu12Gly
Benign/Likely benign
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu16Gln
Likely benign
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Glu16Lys
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Gly163Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Gly267Arg
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Ser2Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TNNT1 p.Tyr9Cys
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Val253Met
Uncertain significance
Multiple submitters
nemaline myopathy 5
-
TNNT1 p.Arg134Lys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg184His
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg204Leu
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg204Trp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Arg276Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Arg39Ser
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu234Lys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu27Asp
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu30Val
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu6Lys
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Glu95Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Ile185Thr
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Ile195Met
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Lys237Asn
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Lys245Ile
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Pro26His
Uncertain significance
Single submitter
nemaline myopathy 5
-
TNNT1 p.Pro26Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Pro31Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TNNT1 p.Pro45Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TNNT1 p.Glu11Lys
Benign
No assertion criteria
TNNT1-related disorder
All TNNT1 variants
Pathogenic 20
- p.Glu180Ter Multiple submitters nemaline myopathy 5
- p.Leu203_Arg204delinsTer Multiple submitters nemaline myopathy 5
- c.502_505del Single submitter nemaline myopathy 5B, autosomal recessive, childhood-onset
- c.611+1dup Single submitter
- p.Ala144fs Single submitter nemaline myopathy 5
- p.Gln247Ter Single submitter
- p.Glu139Ter Single submitter nemaline myopathy 5
- p.Glu21fs Single submitter nemaline myopathy 5
- p.Glu27fs Single submitter nemaline myopathy 5
- p.Glu5fs Single submitter nemaline myopathy 5
- p.Leu233fs Single submitter nemaline myopathy 5
- p.Leu96Pro Single submitter TNNT1-related disorder
- p.Lys41fs Single submitter nemaline myopathy 5
- p.Ser108Ter Single submitter
- p.Thr118fs Single submitter nemaline myopathy 5
- p.Trp209Ter Single submitter nemaline myopathy 5
- c.611+1G>A No assertion criteria nemaline myopathy 5B, autosomal recessive, childhood-onset
- p.Ala242Pro No assertion criteria nemaline myopathy 5B, autosomal recessive, childhood-onset
- p.Glu112Ter No assertion criteria nemaline myopathy 5
- p.Glu6Ter No assertion criteria nemaline myopathy 5
Pathogenic/Likely pathogenic 4
- c.309+1G>A Multiple submitters nemaline myopathy 5
- p.Leu203Ter Multiple submitters nemaline myopathy 5
- p.Lys151fs Multiple submitters nemaline myopathy 5
- p.Lys248Ter Multiple submitters nemaline myopathy 5
Likely pathogenic 10
- c.107-1G>A Single submitter TNNT1-related disorder
- c.310-2A>T Single submitter nemaline myopathy 5
- c.33-1G>A Single submitter nemaline myopathy 5
- c.387+1G>A Single submitter nemaline myopathy 5
- c.501+1G>A Single submitter nemaline myopathy 5
- c.502-2A>G Single submitter nemaline myopathy 5
- c.74-67C>A Single submitter nemaline myopathy 5
- c.792-2A>G Single submitter nemaline myopathy 5
- p.Lys91fs Single submitter nemaline myopathy 5
- p.Met1Val Single submitter nemaline myopathy 5
Conflicting classifications of pathogenicity 15
- c.192+2dup Single submitter nemaline myopathy 5
- c.31_32+1del Single submitter nemaline myopathy 5
- c.310-14T>C Single submitter nemaline myopathy 5
- c.32+1G>A Single submitter nemaline myopathy 5
- c.32+5G>A Single submitter nemaline myopathy 5
- c.47-6C>G Single submitter nemaline myopathy 5
- c.611+12G>A Single submitter nemaline myopathy 5
- c.611+12G>T Single submitter nemaline myopathy 5
- c.73+15T>G Single submitter nemaline myopathy 5
- c.750+15C>T Single submitter nemaline myopathy 5
- c.751-5C>T Single submitter nemaline myopathy 5
- c.791+12C>T Single submitter nemaline myopathy 5
- p.Arg206Gln Single submitter Inborn genetic diseases ⚠
- p.Glu93= Single submitter nemaline myopathy 5
- p.Pro45Leu Single submitter Inborn genetic diseases ⚠
Benign 40
- c.106+67G>A Multiple submitters
- c.107-108G>T Multiple submitters
- c.107-136A>T Multiple submitters
- c.107-16C>A Multiple submitters nemaline myopathy 5
- c.129-231A>G Multiple submitters
- c.192+74C>T Multiple submitters
- c.192+97T>C Multiple submitters
- c.193-88T>C Multiple submitters
- c.388-151T>G Multiple submitters
- c.47-147A>G Multiple submitters
- c.47-92C>G Multiple submitters
- c.611+201C>T Multiple submitters
- c.751-16T>C Multiple submitters nemaline myopathy 5
- c.751-42_751-35del Multiple submitters
- c.751-42G>A Multiple submitters
- c.792-114C>T Multiple submitters
- c.-11-156C>G Multiple submitters
- c.-11-161T>C Multiple submitters
- c.-11-235C>T Multiple submitters
- c.-12+30T>C Multiple submitters
- c.*160C>G Multiple submitters
- c.129-240T>C Single submitter
- c.192+207T>A Single submitter
- c.193-174T>A Single submitter
- c.387+74_387+75insATTATG Single submitter
- c.388-221_388-219dup Single submitter
- c.388-221dup Single submitter
- c.388-260C>G Single submitter
- c.388-267C>T Single submitter
- c.501+308G>A Single submitter
- c.502-177A>G Single submitter
- c.502-17G>A Single submitter nemaline myopathy 5
- c.502-9dup Single submitter nemaline myopathy 5
- c.612-288G>T Single submitter
- c.74-8dup Single submitter nemaline myopathy 5
- c.791+192dup Single submitter
- c.791+206del Single submitter
- c.792-278C>A Single submitter
- p.His260= Single submitter nemaline myopathy 5
- p.Glu11Lys No assertion criteria TNNT1-related disorder ⚠
Benign/Likely benign 7
- c.129-9T>G Multiple submitters nemaline myopathy 5
- c.193-42C>G Multiple submitters
- c.33-8G>A Multiple submitters nemaline myopathy 5
- c.47-13C>T Multiple submitters nemaline myopathy 5
- c.-20A>G Multiple submitters nemaline myopathy 5
- p.Arg265= Multiple submitters nemaline myopathy 5
- p.Glu12Gly Multiple submitters nemaline myopathy 5 ⚠
Likely benign 176
- c.107-112C>G Multiple submitters
- c.128+17T>G Multiple submitters nemaline myopathy 5
- c.129-16_129-15del Multiple submitters nemaline myopathy 5
- c.309+79G>A Multiple submitters
- c.32+8C>T Multiple submitters nemaline myopathy 5
- c.387+14C>T Multiple submitters nemaline myopathy 5
- c.387+152G>A Multiple submitters
- c.611+20C>G Multiple submitters nemaline myopathy 5
- c.612-216G>A Multiple submitters
- c.791+13G>A Multiple submitters nemaline myopathy 5
- c.-11-250A>G Multiple submitters
- c.-12+102G>C Multiple submitters
- c.-12+224C>T Multiple submitters
- c.-12+99G>A Multiple submitters
- c.*12C>T Multiple submitters
- p.Ala98= Multiple submitters nemaline myopathy 5
- p.Glu16Gln Multiple submitters nemaline myopathy 5 ⚠
- p.Leu203= Multiple submitters nemaline myopathy 5
- p.Leu99= Multiple submitters nemaline myopathy 5
- p.Pro29= Multiple submitters nemaline myopathy 5
- p.Pro48= Multiple submitters nemaline myopathy 5
- p.Pro52= Multiple submitters nemaline myopathy 5
- c.106+18G>C Single submitter nemaline myopathy 5
- c.106+7G>A Single submitter nemaline myopathy 5
- c.106+9G>T Single submitter nemaline myopathy 5
- c.107-10C>T Single submitter nemaline myopathy 5
- c.107-11A>C Single submitter nemaline myopathy 5
- c.107-12C>T Single submitter nemaline myopathy 5
- c.107-14C>G Single submitter nemaline myopathy 5
- c.107-20T>G Single submitter nemaline myopathy 5
- c.107-282G>T Single submitter
- c.107-9C>A Single submitter nemaline myopathy 5
- c.107-9C>G Single submitter nemaline myopathy 5
- c.128+12C>G Single submitter nemaline myopathy 5
- c.128+20G>T Single submitter nemaline myopathy 5
- c.128+9C>T Single submitter nemaline myopathy 5
- c.129-16G>C Single submitter nemaline myopathy 5
- c.129-269G>A Single submitter
- c.129-5C>T Single submitter
- c.129-6A>C Single submitter nemaline myopathy 5
- c.192+18C>G Single submitter nemaline myopathy 5
- c.192+9C>A Single submitter nemaline myopathy 5
- c.193-218dup Single submitter
- c.309+10G>C Single submitter nemaline myopathy 5
- c.309+12G>A Single submitter nemaline myopathy 5
- c.309+12G>C Single submitter nemaline myopathy 5
- c.309+15C>G Single submitter nemaline myopathy 5
- c.309+15C>T Single submitter nemaline myopathy 5
- c.309+18del Single submitter nemaline myopathy 5
- c.309+18G>A Single submitter nemaline myopathy 5
- c.309+19T>A Single submitter nemaline myopathy 5
- c.309+8G>C Single submitter nemaline myopathy 5
- c.310-105T>A Single submitter
- c.310-18T>C Single submitter nemaline myopathy 5
- c.310-20T>C Single submitter nemaline myopathy 5
- c.310-4C>A Single submitter
- c.310-5C>A Single submitter nemaline myopathy 5
- c.310-8T>A Single submitter nemaline myopathy 5
- c.310-9G>T Single submitter nemaline myopathy 5
- c.32+12A>G Single submitter nemaline myopathy 5
- c.32+20G>A Single submitter nemaline myopathy 5
- c.33-11C>T Single submitter nemaline myopathy 5
- c.33-12A>G Single submitter nemaline myopathy 5
- c.33-15C>G Single submitter nemaline myopathy 5
- c.33-4G>A Single submitter nemaline myopathy 5
- c.33-5C>T Single submitter nemaline myopathy 5
- c.33-7T>A Single submitter nemaline myopathy 5
- c.33-7T>G Single submitter nemaline myopathy 5
- c.33-9C>G Single submitter nemaline myopathy 5
- c.387+13C>T Single submitter nemaline myopathy 5
- c.387+14_387+19del Single submitter nemaline myopathy 5
- c.387+165T>G Single submitter
- c.387+280G>T Single submitter
- c.388-11_388-8del Single submitter nemaline myopathy 5
- c.388-14C>G Single submitter nemaline myopathy 5
- c.388-16C>T Single submitter nemaline myopathy 5
- c.388-296G>A Single submitter
- c.388-5C>T Single submitter nemaline myopathy 5
- c.388-9T>C Single submitter nemaline myopathy 5
- c.46+10G>T Single submitter nemaline myopathy 5
- c.47-11C>T Single submitter nemaline myopathy 5
- c.47-18C>T Single submitter nemaline myopathy 5
- c.47-9C>T Single submitter nemaline myopathy 5
- c.501+16G>A Single submitter nemaline myopathy 5
- c.501+18_501+19del Single submitter
- c.501+284T>C Single submitter
- c.501+71C>T Single submitter
- c.502-11C>G Single submitter nemaline myopathy 5
- c.502-16C>T Single submitter nemaline myopathy 5
- c.502-18C>T Single submitter nemaline myopathy 5
- c.502-199C>G Single submitter
- c.502-7C>T Single submitter nemaline myopathy 5
- c.502-9C>T Single submitter nemaline myopathy 5
- c.611+10G>A Single submitter nemaline myopathy 5
- c.611+11T>G Single submitter nemaline myopathy 5
- c.611+20C>T Single submitter nemaline myopathy 5
- c.612-14G>A Single submitter nemaline myopathy 5
- c.612-15C>T Single submitter nemaline myopathy 5
- c.612-17T>C Single submitter nemaline myopathy 5
- c.612-228A>G Single submitter
- c.612-4C>T Single submitter nemaline myopathy 5
- c.73+10C>G Single submitter nemaline myopathy 5
- c.73+14C>T Single submitter nemaline myopathy 5
- c.73+16C>G Single submitter nemaline myopathy 5
- c.73+39dup Single submitter
- c.74-11C>T Single submitter nemaline myopathy 5
- c.74-13C>G Single submitter nemaline myopathy 5
- c.74-18C>A Single submitter nemaline myopathy 5
- c.74-5C>T Single submitter nemaline myopathy 5
- c.74-7_74-4del Single submitter nemaline myopathy 5
- c.74-9C>T Single submitter nemaline myopathy 5
- c.750+16G>A Single submitter nemaline myopathy 5
- c.751-16T>A Single submitter nemaline myopathy 5
- c.751-4G>A Single submitter nemaline myopathy 5
- c.751-6C>G Single submitter nemaline myopathy 5
- c.751-8del Single submitter nemaline myopathy 5
- c.751-9C>G Single submitter nemaline myopathy 5
- c.791+15C>T Single submitter nemaline myopathy 5
- c.791+206T>A Single submitter
- c.792-111G>T Single submitter
- c.792-12A>G Single submitter nemaline myopathy 5
- c.792-214A>C Single submitter
- c.792-243C>T Single submitter
- c.792-4A>G Single submitter nemaline myopathy 5
- c.-12+15G>A Single submitter
- c.*17A>G Single submitter
- c.*8G>A Single submitter
- p.Ala144= Single submitter nemaline myopathy 5
- p.Ala18= Single submitter nemaline myopathy 5
- p.Ala223= Single submitter nemaline myopathy 5
- p.Ala242= Single submitter nemaline myopathy 5
- p.Ala268= Single submitter nemaline myopathy 5
- p.Arg115= Single submitter nemaline myopathy 5
- p.Arg122= Single submitter nemaline myopathy 5
- p.Arg272= Single submitter nemaline myopathy 5
- p.Arg60= Single submitter nemaline myopathy 5
- p.Asn252= Single submitter nemaline myopathy 5
- p.Asp83= Single submitter nemaline myopathy 5
- p.Gln114= Single submitter
- p.Gln13= Single submitter
- p.Gln214= Single submitter nemaline myopathy 5
- p.Gln232= Single submitter nemaline myopathy 5
- p.Glu109= Single submitter nemaline myopathy 5
- p.Glu112= Single submitter nemaline myopathy 5
- p.Glu136= Single submitter nemaline myopathy 5
- p.Glu145= Single submitter nemaline myopathy 5
- p.Glu21= Single submitter nemaline myopathy 5
- p.Glu23= Single submitter nemaline myopathy 5
- p.Glu34= Single submitter nemaline myopathy 5
- p.Glu8= Single submitter
- p.Gly162= Single submitter nemaline myopathy 5
- p.Gly274= Single submitter nemaline myopathy 5
- p.Gly58= Single submitter nemaline myopathy 5
- p.Ile195= Single submitter nemaline myopathy 5
- p.Ile51= Single submitter nemaline myopathy 5
- p.Leu186= Single submitter nemaline myopathy 5
- p.Lys266= Single submitter nemaline myopathy 5
- p.Lys278= Single submitter nemaline myopathy 5
- p.Lys41= Single submitter nemaline myopathy 5
- p.Phe238= Single submitter nemaline myopathy 5
- p.Phe63= Single submitter nemaline myopathy 5
- p.Phe86= Single submitter
- p.Pro14= Single submitter nemaline myopathy 5
- p.Pro26= Single submitter nemaline myopathy 5
- p.Pro31= Single submitter nemaline myopathy 5
- p.Pro42= Single submitter nemaline myopathy 5
- p.Pro45= Single submitter nemaline myopathy 5
- p.Pro56= Single submitter nemaline myopathy 5
- p.Ser187= Single submitter nemaline myopathy 5
- p.Ser2= Single submitter nemaline myopathy 5
- p.Ser227= Single submitter nemaline myopathy 5
- p.Thr177= Single submitter nemaline myopathy 5
- p.Thr4= Single submitter nemaline myopathy 5
- p.Tyr249= Single submitter nemaline myopathy 5
- p.Val273= Single submitter nemaline myopathy 5
- p.Val61= Single submitter nemaline myopathy 5
Uncertain significance 129
- c.129-5C>G Multiple submitters nemaline myopathy 5
- c.387+5G>A Multiple submitters nemaline myopathy 5
- p.Ala129Val Multiple submitters ⚠
- p.Ala144Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala25Thr Multiple submitters nemaline myopathy 5 ⚠
- p.Arg107Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg172His Multiple submitters nemaline myopathy 5 ⚠
- p.Arg175Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg175Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg179Trp Multiple submitters nemaline myopathy 5 ⚠
- p.Arg184Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg189His Multiple submitters Inborn genetic diseases ⚠
- p.Arg204Gln Multiple submitters nemaline myopathy 5 ⚠
- p.Arg276Cys Multiple submitters nemaline myopathy 5 ⚠
- p.Asp194Asn Multiple submitters nemaline myopathy 5 ⚠
- p.Asp239Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln170Glu Multiple submitters nemaline myopathy 5 ⚠
- p.Glu119Lys Multiple submitters nemaline myopathy 5 ⚠
- p.Glu12Gln Multiple submitters nemaline myopathy 5 ⚠
- p.Glu16Lys Multiple submitters nemaline myopathy 5 ⚠
- p.Glu188Gln Multiple submitters nemaline myopathy 5 ⚠
- p.Gly163Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly267Arg Multiple submitters nemaline myopathy 5 ⚠
- p.Pro211Thr Multiple submitters nemaline myopathy 5 ⚠
- p.Pro215Leu Multiple submitters nemaline myopathy 5 ⚠
- p.Ser207Pro Multiple submitters nemaline myopathy 5 ⚠
- p.Ser216Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser2Trp Multiple submitters Inborn genetic diseases ⚠
- p.Thr177Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr9Cys Multiple submitters nemaline myopathy 5 ⚠
- p.Val253Met Multiple submitters nemaline myopathy 5 ⚠
- p.Val46Met Multiple submitters Inborn genetic diseases ⚠
- p.Val47Met Multiple submitters nemaline myopathy 5 ⚠
- c.106+4A>G Single submitter
- c.128+5G>A Single submitter nemaline myopathy 5
- c.20_32+2dup Single submitter
- c.309+6C>T Single submitter nemaline myopathy 5
- c.32+4A>T Single submitter nemaline myopathy 5
- c.388-3C>G Single submitter nemaline myopathy 5
- c.46+6T>C Single submitter nemaline myopathy 5
- c.73+5G>C Single submitter
- c.73+6G>A Single submitter nemaline myopathy 5
- c.792-6C>G Single submitter nemaline myopathy 5
- c.*110T>C Single submitter nemaline myopathy 5
- c.*129C>G Single submitter nemaline myopathy 5
- p.Ala126Pro Single submitter nemaline myopathy 5 ⚠
- p.Ala129= Single submitter nemaline myopathy 5
- p.Ala242Val Single submitter nemaline myopathy 5 ⚠
- p.Ala268Thr Single submitter nemaline myopathy 5 ⚠
- p.Arg102Ser Single submitter nemaline myopathy 5 ⚠
- p.Arg107Trp Single submitter nemaline myopathy 5 ⚠
- p.Arg124Cys Single submitter nemaline myopathy 5 ⚠
- p.Arg134Lys Single submitter nemaline myopathy 5 ⚠
- p.Arg143Gln Single submitter nemaline myopathy 5 ⚠
- p.Arg172Cys Single submitter nemaline myopathy 5 ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg179Gln Single submitter nemaline myopathy 5 ⚠
- p.Arg184His Single submitter nemaline myopathy 5 ⚠
- p.Arg189Cys Single submitter nemaline myopathy 5 ⚠
- p.Arg204Leu Single submitter nemaline myopathy 5 ⚠
- p.Arg204Trp Single submitter nemaline myopathy 5 ⚠
- p.Arg206Gly Single submitter nemaline myopathy 5 ⚠
- p.Arg206Trp Single submitter nemaline myopathy 5 ⚠
- p.Arg220Trp Single submitter nemaline myopathy 5 ⚠
- p.Arg257Cys Single submitter nemaline myopathy 5 ⚠
- p.Arg265Gln Single submitter Inborn genetic diseases
- p.Arg265Trp Single submitter nemaline myopathy 5 ⚠
- p.Arg272Cys Single submitter Inborn genetic diseases ⚠
- p.Arg272His Single submitter nemaline myopathy 5 ⚠
- p.Arg276Pro Single submitter Inborn genetic diseases ⚠
- p.Arg39His Single submitter nemaline myopathy 5
- p.Arg39Ser Single submitter nemaline myopathy 5 ⚠
- p.Arg60Cys Single submitter Inborn genetic diseases ⚠
- p.Arg60Leu Single submitter nemaline myopathy 5 ⚠
- p.Arg60Pro Single submitter Inborn genetic diseases ⚠
- p.Asp194Glu Single submitter nemaline myopathy 5 ⚠
- p.Asp239His Single submitter Inborn genetic diseases ⚠
- p.Asp64Glu Single submitter nemaline myopathy 5 ⚠
- p.Gln214Arg Single submitter nemaline myopathy 5 ⚠
- p.Gln88Arg Single submitter nemaline myopathy 5
- p.Glu101Lys Single submitter nemaline myopathy 5
- p.Glu104Val Single submitter nemaline myopathy 5 ⚠
- p.Glu137Lys Single submitter nemaline myopathy 5 ⚠
- p.Glu188Lys Single submitter nemaline myopathy 5 ⚠
- p.Glu234Lys Single submitter nemaline myopathy 5 ⚠
- p.Glu24Gly Single submitter nemaline myopathy 5 ⚠
- p.Glu27Asp Single submitter nemaline myopathy 5 ⚠
- p.Glu30Val Single submitter nemaline myopathy 5 ⚠
- p.Glu36Ala Single submitter ⚠
- p.Glu5Lys Single submitter Inborn genetic diseases
- p.Glu6Lys Single submitter nemaline myopathy 5 ⚠
- p.Glu87Lys Single submitter ⚠
- p.Glu95Asp Single submitter Inborn genetic diseases ⚠
- p.Glu95Gly Single submitter nemaline myopathy 5 ⚠
- p.Gly173Asp Single submitter ⚠
- p.Ile103Thr Single submitter nemaline myopathy 5 ⚠
- p.Ile185Thr Single submitter nemaline myopathy 5 ⚠
- p.Ile195Met Single submitter nemaline myopathy 5 ⚠
- p.Ile195Thr Single submitter nemaline myopathy 5 ⚠
- p.Leu154Val Single submitter nemaline myopathy 5 ⚠
- p.Lys190Arg Single submitter nemaline myopathy 5 ⚠
- p.Lys191Asn Single submitter nemaline myopathy 5 ⚠
- p.Lys237Asn Single submitter nemaline myopathy 5 ⚠
- p.Lys245Ile Single submitter nemaline myopathy 5 ⚠
- p.Lys263Arg Single submitter nemaline myopathy 5 ⚠
- p.Lys91Glu Single submitter ⚠
- p.Met133Leu Single submitter Inborn genetic diseases ⚠
- p.Met198Val Single submitter nemaline myopathy 5 ⚠
- p.Met241Ile Single submitter nemaline myopathy 5 ⚠
- p.Met241Lys Single submitter Inborn genetic diseases
- p.Met241Thr Single submitter Inborn genetic diseases ⚠
- p.Phe86Leu Single submitter Inborn genetic diseases ⚠
- p.Phe86Val Single submitter nemaline myopathy 5 ⚠
- p.Pro218Arg Single submitter nemaline myopathy 5 ⚠
- p.Pro26His Single submitter nemaline myopathy 5 ⚠
- p.Pro26Leu Single submitter Inborn genetic diseases ⚠
- p.Pro31Leu Single submitter Inborn genetic diseases ⚠
- p.Pro31Ser Single submitter Inborn genetic diseases ⚠
- p.Pro49Arg Single submitter nemaline myopathy 5
- p.Pro53Ser Single submitter nemaline myopathy 5 ⚠
- p.Ser259Gly Single submitter Inborn genetic diseases
- p.Thr4Ile Single submitter nemaline myopathy 5 ⚠
- p.Tyr197Asp Single submitter nemaline myopathy 5 ⚠
- p.Tyr249Cys Single submitter nemaline myopathy 5 ⚠
- p.Tyr255Cys Single submitter nemaline myopathy 5
- p.Val273Ile Single submitter nemaline myopathy 5 ⚠
- p.Val32Gly Single submitter Inborn genetic diseases ⚠
- p.Val32Leu Single submitter nemaline myopathy 5 ⚠
- p.Val46Leu Single submitter Inborn genetic diseases ⚠