TXNRD2 — 856 ClinVar variants

All ClinVar germline TXNRD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

37 Conflicting · 72 Benign · 17 Benign/Likely benign · 308 Likely benign · 422 Uncertain significance

Full TXNRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All TXNRD2 variants

Conflicting classifications of pathogenicity 37

c.449+4C>T Single submitter Cardiovascular phenotype
c.529-5C>T Single submitter Cardiovascular phenotype
p.Ala488Val Single submitter Cardiovascular phenotype
p.Ala58= Single submitter dilated cardiomyopathy
p.Arg14Leu Single submitter Cardiovascular phenotype
p.Arg254Cys Single submitter Cardiovascular phenotype
p.Arg274Gln Single submitter dilated cardiomyopathy
p.Arg286Ser Single submitter TXNRD2-related disorder
p.Arg346Gln Single submitter dilated cardiomyopathy
p.Arg346Trp Single submitter Cardiovascular phenotype
p.Arg38Gln Single submitter Cardiovascular phenotype
p.Arg441Ter Single submitter glucocorticoid deficiency 5
p.Arg492Gln Single submitter dilated cardiomyopathy
p.Arg492Trp Single submitter Cardiovascular phenotype
p.Arg79Gln Single submitter Cardiovascular phenotype
p.Asn469= Single submitter dilated cardiomyopathy
p.Asp393Asn Single submitter Cardiovascular phenotype
p.Gln339Leu Single submitter glucocorticoid deficiency 5
p.Glu199Lys Single submitter Cardiovascular phenotype
p.Gly169Ser Single submitter Cardiovascular phenotype
p.Gly219Ala Single submitter glucocorticoid deficiency 5
p.Gly290Val Single submitter Cardiovascular phenotype
p.Gly384= Single submitter Cardiovascular phenotype
p.Gly46= Single submitter dilated cardiomyopathy
p.Gly467= Single submitter Cardiovascular phenotype
p.His197= Single submitter Cardiovascular phenotype
p.Ile177Val Single submitter glucocorticoid deficiency 5
p.Leu52= Single submitter Cardiovascular phenotype
p.Ser217Tyr Single submitter glucocorticoid deficiency 5
p.Ser282Leu Single submitter Cardiovascular phenotype
p.Thr306Met Single submitter Cardiovascular phenotype
p.Tyr392His Single submitter Cardiovascular phenotype
p.Tyr447Ter Single submitter glucocorticoid deficiency 5
p.Val121Met Single submitter Cardiovascular phenotype
p.Val22Met Single submitter Cardiovascular phenotype
p.Val45= Single submitter Cardiovascular phenotype
p.Val505Ala Single submitter Cardiovascular phenotype

Benign 72

c.103+197G>A Multiple submitters
c.1086+17G>A Multiple submitters dilated cardiomyopathy
c.1087-11C>T Multiple submitters dilated cardiomyopathy
c.1087-16del Multiple submitters dilated cardiomyopathy
c.1183-120G>T Multiple submitters
c.1347+20A>G Multiple submitters dilated cardiomyopathy
c.1445+18C>T Multiple submitters dilated cardiomyopathy
c.173-70T>C Multiple submitters
c.374+13C>T Multiple submitters dilated cardiomyopathy
c.374+16C>A Multiple submitters dilated cardiomyopathy
c.374+77G>C Multiple submitters
c.375-128C>A Multiple submitters
c.375-204T>C Multiple submitters
c.375-62C>T Multiple submitters
c.450-292C>T Multiple submitters
c.529-118C>G Multiple submitters
c.529-97G>A Multiple submitters
c.529-98C>T Multiple submitters
c.591+18del Multiple submitters dilated cardiomyopathy
c.591+211A>G Multiple submitters
c.591+66G>A Multiple submitters
c.592-27T>C Multiple submitters
c.592-91C>G Multiple submitters
c.662+13C>T Multiple submitters dilated cardiomyopathy
c.662+14G>A Multiple submitters dilated cardiomyopathy
c.662+63T>C Multiple submitters
c.662+82G>T Multiple submitters
c.663-206C>T Multiple submitters
c.682+129C>T Multiple submitters
c.774+14C>A Multiple submitters dilated cardiomyopathy
c.775-85T>C Multiple submitters
c.949+300C>T Multiple submitters
c.949+42C>T Multiple submitters
c.949+437del Multiple submitters glucocorticoid deficiency 5
c.950-113G>C Multiple submitters
c.950-220A>G Multiple submitters
c.-225T>C Multiple submitters
c.*254A>G Multiple submitters
c.*65+228C>T Multiple submitters
p.Ala59= Multiple submitters glucocorticoid deficiency 5
p.Ala66Ser Multiple submitters glucocorticoid deficiency 5
p.Glu176Gln Multiple submitters dilated cardiomyopathy
p.Gly255Arg Multiple submitters glucocorticoid deficiency 5
p.Leu367= Multiple submitters Cardiovascular phenotype
p.Leu82= Multiple submitters dilated cardiomyopathy
p.Pro402= Multiple submitters dilated cardiomyopathy
p.Ser299Arg Multiple submitters dilated cardiomyopathy
p.Ser411= Multiple submitters Cardiovascular phenotype
p.Thr301= Multiple submitters Cardiovascular phenotype
p.Tyr70= Multiple submitters Cardiovascular phenotype
c.103+340G>A Single submitter dilated cardiomyopathy
c.104-12C>G Single submitter dilated cardiomyopathy
c.1087-16dup Single submitter dilated cardiomyopathy
c.1275+163G>C Single submitter
c.1275+198T>C Single submitter
c.1276-234C>G Single submitter
c.1445+254G>A Single submitter
c.1446-203G>A Single submitter
c.173-131_173-130insGGCCAGAGCGCAGAGGCAGATCAGGGGTCCCTAGCATTGCGCAGCTCAGCG Single submitter
c.173-224A>G Single submitter
c.230-168_230-167del Single submitter
c.374+127C>T Single submitter
c.374+287G>A Single submitter
c.449+111G>A Single submitter
c.529-9dup Single submitter dilated cardiomyopathy
c.592-246G>C Single submitter
c.662+240del Single submitter
c.662+281_662+282dup Single submitter
c.662+281dup Single submitter
c.949+421dup Single submitter
c.950-214G>A Single submitter
c.*239del Single submitter

Benign/Likely benign 17

c.103+14dup Multiple submitters dilated cardiomyopathy
c.103+19G>A Multiple submitters dilated cardiomyopathy
c.1086+12G>A Multiple submitters dilated cardiomyopathy
c.374+17G>A Multiple submitters dilated cardiomyopathy
c.375-19T>G Multiple submitters dilated cardiomyopathy
c.450-15_450-14del Multiple submitters dilated cardiomyopathy
c.529-6C>T Multiple submitters dilated cardiomyopathy
c.683-6C>T Multiple submitters dilated cardiomyopathy
p.Asp359= Multiple submitters Cardiovascular phenotype
p.Gln37Leu Multiple submitters glucocorticoid deficiency 5
p.Glu503= Multiple submitters Cardiovascular phenotype
p.Gly272= Multiple submitters Cardiovascular phenotype
p.Gly384Ser Multiple submitters Cardiovascular phenotype
p.Ser386= Multiple submitters dilated cardiomyopathy
p.Tyr154= Multiple submitters Cardiovascular phenotype
p.Tyr487= Multiple submitters dilated cardiomyopathy
p.Val379= Multiple submitters dilated cardiomyopathy

Likely benign 308

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

c.104-102C>T Multiple submitters
c.1086+11C>T Multiple submitters dilated cardiomyopathy
c.1182+19C>T Multiple submitters dilated cardiomyopathy
c.1182+20G>A Multiple submitters dilated cardiomyopathy
c.1183-82C>T Multiple submitters
c.1275+18C>T Multiple submitters dilated cardiomyopathy
c.1276-15G>A Multiple submitters dilated cardiomyopathy
c.1445+13G>T Multiple submitters dilated cardiomyopathy
c.1446-70C>T Multiple submitters
c.172+182C>T Multiple submitters
c.172+20C>A Multiple submitters dilated cardiomyopathy
c.173-19del Multiple submitters dilated cardiomyopathy
c.229+15A>G Multiple submitters dilated cardiomyopathy
c.374+87C>A Multiple submitters
c.375-152G>A Multiple submitters
c.375-8C>T Multiple submitters dilated cardiomyopathy
c.449+17C>T Multiple submitters dilated cardiomyopathy
c.450-232T>C Multiple submitters
c.450-274C>A Multiple submitters
c.450-75G>C Multiple submitters
c.528+19C>T Multiple submitters dilated cardiomyopathy
c.529-8C>T Multiple submitters dilated cardiomyopathy
c.591+196C>T Multiple submitters
c.592-17C>A Multiple submitters dilated cardiomyopathy
c.662+11C>G Multiple submitters dilated cardiomyopathy
c.663-134G>A Multiple submitters
c.682+15C>T Multiple submitters dilated cardiomyopathy
c.682+16G>A Multiple submitters dilated cardiomyopathy
c.775-19G>A Multiple submitters dilated cardiomyopathy
c.949+11G>A Multiple submitters dilated cardiomyopathy
c.949+238C>T Multiple submitters
c.950-80C>G Multiple submitters
c.-193C>T Multiple submitters
p.Ala100= Multiple submitters dilated cardiomyopathy
p.Ala101= Multiple submitters Cardiovascular phenotype
p.Ala181= Multiple submitters dilated cardiomyopathy
p.Ala2= Multiple submitters dilated cardiomyopathy
p.Ala371= Multiple submitters dilated cardiomyopathy
p.Ala374= Multiple submitters Cardiovascular phenotype
p.Ala488= Multiple submitters dilated cardiomyopathy
p.Ala66= Multiple submitters Cardiovascular phenotype
p.Arg254= Multiple submitters Cardiovascular phenotype
p.Arg274= Multiple submitters Cardiovascular phenotype
p.Arg283= Multiple submitters dilated cardiomyopathy
p.Arg286= Multiple submitters dilated cardiomyopathy
p.Arg508His Multiple submitters dilated cardiomyopathy
p.Asn469Lys Multiple submitters Cardiovascular phenotype
p.Asn88= Multiple submitters Cardiovascular phenotype
p.Asp163= Multiple submitters Cardiovascular phenotype
p.Asp257= Multiple submitters Cardiovascular phenotype
p.Cys168= Multiple submitters Cardiovascular phenotype
p.Cys407= Multiple submitters dilated cardiomyopathy
p.Cys483= Multiple submitters dilated cardiomyopathy
p.Cys500Phe Multiple submitters dilated cardiomyopathy
p.Cys86= Multiple submitters Cardiovascular phenotype
p.Glu435= Multiple submitters Cardiovascular phenotype
p.Gly105= Multiple submitters Cardiovascular phenotype
p.Gly169= Multiple submitters Cardiovascular phenotype
p.Gly190= Multiple submitters dilated cardiomyopathy
p.Gly32= Multiple submitters Cardiovascular phenotype
p.Gly331= Multiple submitters Cardiovascular phenotype
p.Gly385= Multiple submitters Cardiovascular phenotype
p.Gly471= Multiple submitters Cardiovascular phenotype
p.Gly83= Multiple submitters Cardiovascular phenotype
p.His267= Multiple submitters dilated cardiomyopathy
p.His419= Multiple submitters Cardiovascular phenotype
p.His428= Multiple submitters Cardiovascular phenotype
p.Leu103= Multiple submitters dilated cardiomyopathy
p.Leu178= Multiple submitters Cardiovascular phenotype
p.Leu242= Multiple submitters dilated cardiomyopathy
p.Leu377= Multiple submitters Cardiovascular phenotype
p.Lys329= Multiple submitters dilated cardiomyopathy
p.Phe383= Multiple submitters dilated cardiomyopathy
p.Phe436= Multiple submitters dilated cardiomyopathy
p.Pro120= Multiple submitters Cardiovascular phenotype
p.Pro122= Multiple submitters Cardiovascular phenotype
p.Pro195= Multiple submitters dilated cardiomyopathy
p.Pro336= Multiple submitters dilated cardiomyopathy
p.Pro369= Multiple submitters dilated cardiomyopathy
p.Pro456= Multiple submitters dilated cardiomyopathy
p.Ser282= Multiple submitters Cardiovascular phenotype
p.Thr166= Multiple submitters dilated cardiomyopathy
p.Thr196= Multiple submitters dilated cardiomyopathy
p.Thr238= Multiple submitters Cardiovascular phenotype
p.Thr273= Multiple submitters Cardiovascular phenotype
p.Thr306= Multiple submitters Cardiovascular phenotype
p.Thr334= Multiple submitters dilated cardiomyopathy
p.Thr368= Multiple submitters Cardiovascular phenotype
p.Thr397= Multiple submitters Cardiovascular phenotype
p.Thr398= Multiple submitters Cardiovascular phenotype
p.Thr437= Multiple submitters dilated cardiomyopathy
p.Thr474= Multiple submitters dilated cardiomyopathy
p.Thr493= Multiple submitters Cardiovascular phenotype
p.Thr499= Multiple submitters dilated cardiomyopathy
p.Thr518= Multiple submitters Cardiovascular phenotype
p.Tyr355= Multiple submitters Cardiovascular phenotype
p.Tyr392= Multiple submitters Cardiovascular phenotype
p.Val162= Multiple submitters Cardiovascular phenotype
p.Val224= Multiple submitters dilated cardiomyopathy
p.Val399Ile Multiple submitters Cardiovascular phenotype
p.Val408= Multiple submitters Cardiovascular phenotype
p.Val505= Multiple submitters Cardiovascular phenotype
c.103+17G>T Single submitter dilated cardiomyopathy
c.103+278C>T Single submitter
c.104-10del Single submitter dilated cardiomyopathy
c.104-1249C>T Single submitter
c.104-19C>A Single submitter dilated cardiomyopathy
c.104-2322G>C Single submitter
c.1086+10G>A Single submitter dilated cardiomyopathy
c.1086+11C>A Single submitter dilated cardiomyopathy
c.1086+12_1086+13delinsTC Single submitter dilated cardiomyopathy
c.1086+16C>T Single submitter dilated cardiomyopathy
c.1086+19_1086+20insGGCA Single submitter dilated cardiomyopathy
c.1086+9T>C Single submitter dilated cardiomyopathy
c.1087-14dup Single submitter dilated cardiomyopathy
c.1087-15T>C Single submitter dilated cardiomyopathy
c.1087-243G>A Single submitter
c.1087-4C>T Single submitter dilated cardiomyopathy
c.1087-8T>C Single submitter dilated cardiomyopathy
c.1182+15dup Single submitter dilated cardiomyopathy
c.1182+20G>T Single submitter dilated cardiomyopathy
c.1182+49C>T Single submitter
c.1275+233T>C Single submitter
c.1276-10C>T Single submitter dilated cardiomyopathy
c.1276-11C>A Single submitter dilated cardiomyopathy
c.1276-16_1276-14del Single submitter dilated cardiomyopathy
c.1276-6C>T Single submitter dilated cardiomyopathy
c.1347+13G>A Single submitter dilated cardiomyopathy
c.1348-13G>A Single submitter dilated cardiomyopathy
c.1445+10G>A Single submitter dilated cardiomyopathy
c.1445+18C>G Single submitter dilated cardiomyopathy
c.1445+8C>T Single submitter dilated cardiomyopathy
c.1445+9C>T Single submitter dilated cardiomyopathy
c.1446-14T>C Single submitter dilated cardiomyopathy
c.1446-15A>G Single submitter dilated cardiomyopathy
c.1446-5T>G Single submitter dilated cardiomyopathy
c.1446-7T>C Single submitter dilated cardiomyopathy
c.1446-8A>G Single submitter dilated cardiomyopathy
c.172+11T>G Single submitter dilated cardiomyopathy
c.172+12G>A Single submitter dilated cardiomyopathy
c.172+14A>G Single submitter dilated cardiomyopathy
c.172+20C>T Single submitter dilated cardiomyopathy
c.173-14C>T Single submitter dilated cardiomyopathy
c.173-15T>C Single submitter
c.173-7C>A Single submitter dilated cardiomyopathy
c.173-9T>C Single submitter dilated cardiomyopathy
c.229+11C>T Single submitter dilated cardiomyopathy
c.229+13C>G Single submitter dilated cardiomyopathy
c.229+19G>A Single submitter dilated cardiomyopathy
c.229+24G>A Single submitter
c.229+7A>T Single submitter dilated cardiomyopathy
c.230-4C>T Single submitter Cardiovascular phenotype
c.230-8C>T Single submitter dilated cardiomyopathy
c.230-9A>G Single submitter dilated cardiomyopathy
c.374+14G>A Single submitter dilated cardiomyopathy
c.374+16C>T Single submitter dilated cardiomyopathy
c.374+20G>T Single submitter dilated cardiomyopathy
c.374+9C>T Single submitter dilated cardiomyopathy
c.375-10A>T Single submitter dilated cardiomyopathy
c.375-12G>A Single submitter dilated cardiomyopathy
c.375-13C>T Single submitter dilated cardiomyopathy
c.375-14T>G Single submitter dilated cardiomyopathy
c.375-4A>G Single submitter Cardiovascular phenotype
c.375-7T>G Single submitter dilated cardiomyopathy
c.449+10C>G Single submitter dilated cardiomyopathy
c.449+11T>C Single submitter dilated cardiomyopathy
c.449+13T>C Single submitter dilated cardiomyopathy
c.449+14C>G Single submitter dilated cardiomyopathy
c.449+7_449+12del Single submitter dilated cardiomyopathy
c.450-13C>G Single submitter dilated cardiomyopathy
c.450-14T>A Single submitter dilated cardiomyopathy
c.529-8C>A Single submitter dilated cardiomyopathy
c.591+16G>A Single submitter dilated cardiomyopathy
c.591+17C>T Single submitter dilated cardiomyopathy
c.591+18A>G Single submitter dilated cardiomyopathy
c.591+243C>G Single submitter
c.591+7G>T Single submitter dilated cardiomyopathy
c.592-20G>C Single submitter
c.592-5G>C Single submitter
c.662+10G>T Single submitter dilated cardiomyopathy
c.662+11C>T Single submitter dilated cardiomyopathy
c.662+14G>T Single submitter dilated cardiomyopathy
c.662+16G>A Single submitter dilated cardiomyopathy
c.662+20G>T Single submitter dilated cardiomyopathy
c.662+9T>G Single submitter dilated cardiomyopathy
c.663-10T>C Single submitter dilated cardiomyopathy
c.663-13G>C Single submitter dilated cardiomyopathy
c.663-5A>G Single submitter dilated cardiomyopathy
c.663-7C>T Single submitter dilated cardiomyopathy
c.682+13dup Single submitter dilated cardiomyopathy
c.682+9T>G Single submitter dilated cardiomyopathy
c.683-16A>C Single submitter dilated cardiomyopathy
c.774+11A>G Single submitter dilated cardiomyopathy
c.774+12G>A Single submitter dilated cardiomyopathy
c.774+16C>G Single submitter dilated cardiomyopathy
c.774+16C>T Single submitter dilated cardiomyopathy
c.774+19G>C Single submitter dilated cardiomyopathy
c.774+255C>A Single submitter
c.775-11_775-6del Single submitter dilated cardiomyopathy
c.775-15T>G Single submitter dilated cardiomyopathy
c.775-8C>T Single submitter dilated cardiomyopathy
c.949+10C>A Single submitter dilated cardiomyopathy
c.949+10C>T Single submitter dilated cardiomyopathy
c.949+13C>T Single submitter dilated cardiomyopathy
c.949+14G>A Single submitter dilated cardiomyopathy
c.949+14G>T Single submitter dilated cardiomyopathy
c.949+199A>G Single submitter
c.949+223G>A Single submitter
c.949+247T>C Single submitter
c.950-13C>G Single submitter dilated cardiomyopathy
c.950-19C>T Single submitter dilated cardiomyopathy
c.*239dup Single submitter
p.Ala21= Single submitter Cardiovascular phenotype
p.Ala234= Single submitter dilated cardiomyopathy
p.Ala280= Single submitter dilated cardiomyopathy
p.Ala5= Single submitter Cardiovascular phenotype
p.Ala55= Single submitter dilated cardiomyopathy
p.Ala7= Single submitter dilated cardiomyopathy
p.Arg14= Single submitter Cardiovascular phenotype
p.Arg285= Single submitter Cardiovascular phenotype
p.Arg318= Single submitter dilated cardiomyopathy
p.Arg346= Single submitter
p.Arg38= Single submitter Cardiovascular phenotype
p.Arg418= Single submitter dilated cardiomyopathy
p.Arg79= Single submitter dilated cardiomyopathy
p.Arg9= Single submitter Cardiovascular phenotype
p.Asn140= Single submitter Cardiovascular phenotype
p.Asp149= Single submitter Cardiovascular phenotype
p.Asp337= Single submitter Cardiovascular phenotype
p.Asp337Glu Single submitter Cardiovascular phenotype
p.Asp344= Single submitter dilated cardiomyopathy
p.Asp391= Single submitter dilated cardiomyopathy
p.Asp41= Single submitter Cardiovascular phenotype
p.Cys500= Single submitter Cardiovascular phenotype
p.Cys522= Single submitter Cardiovascular phenotype
p.Glu199= Single submitter dilated cardiomyopathy
p.Glu304= Single submitter
p.Glu347= Single submitter dilated cardiomyopathy
p.Glu414= Single submitter Cardiovascular phenotype
p.Glu422= Single submitter dilated cardiomyopathy
p.Glu455= Single submitter Cardiovascular phenotype
p.Gly104= Single submitter Cardiovascular phenotype
p.Gly12= Single submitter dilated cardiomyopathy
p.Gly13= Single submitter Cardiovascular phenotype
p.Gly142= Single submitter Cardiovascular phenotype
p.Gly255= Single submitter Cardiovascular phenotype
p.Gly278= Single submitter dilated cardiomyopathy
p.Gly28= Single submitter dilated cardiomyopathy
p.Gly290= Single submitter dilated cardiomyopathy
p.Gly375= Single submitter Cardiovascular phenotype
p.Gly409= Single submitter Cardiovascular phenotype
p.Gly420= Single submitter dilated cardiomyopathy
p.Gly440Glu Single submitter Cardiovascular phenotype
p.Gly524= Single submitter dilated cardiomyopathy
p.His135= Single submitter Cardiovascular phenotype
p.His353= Single submitter dilated cardiomyopathy
p.Ile157= Single submitter Cardiovascular phenotype
p.Ile198= Single submitter Cardiovascular phenotype
p.Ile370Thr Single submitter dilated cardiomyopathy
p.Ile496= Single submitter dilated cardiomyopathy
p.Ile509= Single submitter dilated cardiomyopathy
p.Leu287= Single submitter dilated cardiomyopathy
p.Leu313= Single submitter dilated cardiomyopathy
p.Leu378= Single submitter Cardiovascular phenotype
p.Leu42= Single submitter dilated cardiomyopathy
p.Leu434= Single submitter dilated cardiomyopathy
p.Leu459= Single submitter dilated cardiomyopathy
p.Leu461= Single submitter dilated cardiomyopathy
p.Leu463= Single submitter Cardiovascular phenotype
p.Leu466= Single submitter dilated cardiomyopathy
p.Leu479= Single submitter dilated cardiomyopathy
p.Leu507= Single submitter Cardiovascular phenotype
p.Leu8= Single submitter Cardiovascular phenotype
p.Lys215= Single submitter Cardiovascular phenotype
p.Lys95= Single submitter dilated cardiomyopathy
p.Phe256= Single submitter Cardiovascular phenotype
p.Phe400= Single submitter Cardiovascular phenotype
p.Pro252= Single submitter dilated cardiomyopathy
p.Pro352= Single submitter Cardiovascular phenotype
p.Pro396= Single submitter dilated cardiomyopathy
p.Pro457= Single submitter dilated cardiomyopathy
p.Pro93= Single submitter dilated cardiomyopathy
p.Ser138= Single submitter Cardiovascular phenotype
p.Ser180= Single submitter dilated cardiomyopathy
p.Ser261= Single submitter dilated cardiomyopathy
p.Ser324= Single submitter Cardiovascular phenotype
p.Ser387= Single submitter Cardiovascular phenotype
p.Ser444= Single submitter dilated cardiomyopathy
p.Thr188= Single submitter dilated cardiomyopathy
p.Thr311= Single submitter Cardiovascular phenotype
p.Thr520= Single submitter dilated cardiomyopathy
p.Thr85= Single submitter dilated cardiomyopathy
p.Tyr431= Single submitter Cardiovascular phenotype
p.Tyr447= Single submitter Cardiovascular phenotype
p.Val136= Single submitter Cardiovascular phenotype
p.Val319= Single submitter dilated cardiomyopathy
p.Val332= Single submitter Cardiovascular phenotype
p.Val343= Single submitter dilated cardiomyopathy
p.Val360= Single submitter Cardiovascular phenotype
p.Val361= Single submitter Cardiovascular phenotype

Uncertain significance 422

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

c.104-1G>A Multiple submitters dilated cardiomyopathy
c.104-3C>G Multiple submitters Cardiovascular phenotype
c.1086+4C>T Multiple submitters dilated cardiomyopathy
c.1087-2A>G Multiple submitters dilated cardiomyopathy
c.1182+5G>A Multiple submitters Cardiovascular phenotype
c.1348-2A>G Multiple submitters glucocorticoid deficiency 5
c.1348-9G>A Multiple submitters dilated cardiomyopathy
c.1445+5G>C Multiple submitters dilated cardiomyopathy
c.172+3A>G Multiple submitters Cardiovascular phenotype
c.450-1G>A Multiple submitters Cardiovascular phenotype
c.528+2T>C Multiple submitters Cardiovascular phenotype
c.591+1G>A Multiple submitters Cardiovascular phenotype
c.591+1G>C Multiple submitters dilated cardiomyopathy
c.592-2_602del Multiple submitters Cardiovascular phenotype
c.662+1G>A Multiple submitters Cardiovascular phenotype
c.682+5C>G Multiple submitters dilated cardiomyopathy
c.682+6C>A Multiple submitters dilated cardiomyopathy
p.27RGAA[1] Multiple submitters Cardiovascular phenotype
p.27RGAA[3] Multiple submitters dilated cardiomyopathy
p.Ala100Glu Multiple submitters dilated cardiomyopathy
p.Ala100Val Multiple submitters dilated cardiomyopathy
p.Ala131Gly Multiple submitters Cardiovascular phenotype
p.Ala131Val Multiple submitters dilated cardiomyopathy
p.Ala226Val Multiple submitters dilated cardiomyopathy
p.Ala280Val Multiple submitters Cardiovascular phenotype
p.Ala356Thr Multiple submitters Cardiovascular phenotype
p.Ala429Thr Multiple submitters dilated cardiomyopathy
p.Ala485Ser Multiple submitters Cardiovascular phenotype
p.Ala58Thr Multiple submitters Cardiovascular phenotype
p.Ala59Pro Multiple submitters dilated cardiomyopathy
p.Ala59Thr Multiple submitters glucocorticoid deficiency 5
p.Ala5Val Multiple submitters dilated cardiomyopathy
p.Ala7Gly Multiple submitters Cardiovascular phenotype
p.Ala7Val Multiple submitters dilated cardiomyopathy
p.Arg144Cys Multiple submitters dilated cardiomyopathy
p.Arg144His Multiple submitters Cardiovascular phenotype
p.Arg144Leu Multiple submitters dilated cardiomyopathy
p.Arg144Pro Multiple submitters dilated cardiomyopathy
p.Arg14Cys Multiple submitters Cardiovascular phenotype
p.Arg150Lys Multiple submitters Cardiovascular phenotype
p.Arg191Trp Multiple submitters dilated cardiomyopathy
p.Arg249Cys Multiple submitters glucocorticoid deficiency 5
p.Arg249His Multiple submitters Cardiovascular phenotype
p.Arg254His Multiple submitters Cardiovascular phenotype
p.Arg274Trp Multiple submitters dilated cardiomyopathy
p.Arg283Trp Multiple submitters dilated cardiomyopathy
p.Arg323Gly Multiple submitters dilated cardiomyopathy
p.Arg323Ser Multiple submitters dilated cardiomyopathy
p.Arg364Gln Multiple submitters Cardiovascular phenotype
p.Arg364Trp Multiple submitters Cardiovascular phenotype
p.Arg376Gly Multiple submitters dilated cardiomyopathy
p.Arg381Gln Multiple submitters dilated cardiomyopathy
p.Arg38Trp Multiple submitters Cardiovascular phenotype
p.Arg418His Multiple submitters dilated cardiomyopathy
p.Arg441Gln Multiple submitters dilated cardiomyopathy
p.Arg508Cys Multiple submitters dilated cardiomyopathy
p.Arg512Cys Multiple submitters dilated cardiomyopathy
p.Arg512His Multiple submitters Cardiovascular phenotype
p.Arg79Leu Multiple submitters dilated cardiomyopathy
p.Arg79Trp Multiple submitters Cardiovascular phenotype
p.Arg9Pro Multiple submitters Cardiovascular phenotype
p.Asn112Ser Multiple submitters dilated cardiomyopathy
p.Asn140fs Multiple submitters glucocorticoid deficiency 5
p.Asn394Asp Multiple submitters dilated cardiomyopathy
p.Asn469Ser Multiple submitters dilated cardiomyopathy
p.Asp182Asn Multiple submitters dilated cardiomyopathy
p.Asp209Glu Multiple submitters Cardiovascular phenotype
p.Asp257Asn Multiple submitters Cardiovascular phenotype
p.Asp337Asn Multiple submitters Cardiovascular phenotype
p.Asp344Tyr Multiple submitters glucocorticoid deficiency 5
p.Cys500Arg Multiple submitters Cardiovascular phenotype
p.Gln421Arg Multiple submitters Cardiovascular phenotype
p.Gln458fs Multiple submitters Cardiovascular phenotype
p.Glu164Lys Multiple submitters Cardiovascular phenotype
p.Glu412Lys Multiple submitters Cardiovascular phenotype
p.Glu472Lys Multiple submitters dilated cardiomyopathy
p.Glu72Lys Multiple submitters dilated cardiomyopathy
p.Gly10Ala Multiple submitters Cardiovascular phenotype
p.Gly10Val Multiple submitters dilated cardiomyopathy
p.Gly200Asp Multiple submitters dilated cardiomyopathy
p.Gly235Ala Multiple submitters Cardiovascular phenotype
p.Gly239Arg Multiple submitters Cardiovascular phenotype
p.Gly241Glu Multiple submitters Cardiovascular phenotype
p.Gly290Ser Multiple submitters dilated cardiomyopathy
p.Gly302Asp Multiple submitters dilated cardiomyopathy
p.Gly302Ser Multiple submitters Cardiovascular phenotype
p.Gly375Val Multiple submitters Cardiovascular phenotype
p.Gly384Arg Multiple submitters dilated cardiomyopathy
p.Gly385Ala Multiple submitters Cardiovascular phenotype
p.Gly385Arg Multiple submitters Cardiovascular phenotype
p.Gly420Arg Multiple submitters Cardiovascular phenotype
p.Gly471Asp Multiple submitters dilated cardiomyopathy
p.Gly47Arg Multiple submitters glucocorticoid deficiency 5
p.Gly484Glu Multiple submitters dilated cardiomyopathy
p.Gly83Ser Multiple submitters Cardiovascular phenotype
p.Gly90Ser Multiple submitters Cardiovascular phenotype
p.His197Asp Multiple submitters dilated cardiomyopathy
p.His271Arg Multiple submitters dilated cardiomyopathy
p.His353Pro Multiple submitters dilated cardiomyopathy
p.His430Pro Multiple submitters Cardiovascular phenotype
p.Ile198Thr Multiple submitters dilated cardiomyopathy
p.Ile240Met Multiple submitters dilated cardiomyopathy
p.Ile246Thr Multiple submitters Cardiovascular phenotype
p.Ile357Thr Multiple submitters Cardiovascular phenotype
p.Leu231Pro Multiple submitters Cardiovascular phenotype
p.Leu253Pro Multiple submitters Cardiovascular phenotype
p.Leu287Arg Multiple submitters Cardiovascular phenotype
p.Leu459Pro Multiple submitters dilated cardiomyopathy
p.Leu479Pro Multiple submitters Cardiovascular phenotype
p.Leu8Val Multiple submitters Cardiovascular phenotype
p.Lys127Arg Multiple submitters dilated cardiomyopathy
p.Lys482Asn Multiple submitters Cardiovascular phenotype
p.Lys482Thr Multiple submitters Cardiovascular phenotype
p.Met1Thr Multiple submitters glucocorticoid deficiency 5
p.Met247Lys Multiple submitters Cardiovascular phenotype
p.Met263Ile Multiple submitters dilated cardiomyopathy
p.Met263Val Multiple submitters Cardiovascular phenotype
p.Met390Arg Multiple submitters Cardiovascular phenotype
p.Met491Val Multiple submitters Cardiovascular phenotype
p.Met4Thr Multiple submitters glucocorticoid deficiency 5
p.Pro122Leu Multiple submitters Cardiovascular phenotype
p.Pro192Leu Multiple submitters glucocorticoid deficiency 5
p.Pro320Ser Multiple submitters Cardiovascular phenotype
p.Pro352Thr Multiple submitters dilated cardiomyopathy
p.Pro402Leu Multiple submitters Cardiovascular phenotype
p.Pro498Ser Multiple submitters Cardiovascular phenotype
p.Pro517Ser Multiple submitters Cardiovascular phenotype
p.Pro517Thr Multiple submitters Cardiovascular phenotype
p.Pro75Leu Multiple submitters Cardiovascular phenotype
p.Ser208Asn Multiple submitters Cardiovascular phenotype
p.Ser299Cys Multiple submitters Cardiovascular phenotype
p.Ser386Pro Multiple submitters dilated cardiomyopathy
p.Ser386Tyr Multiple submitters dilated cardiomyopathy
p.Ser444Cys Multiple submitters Cardiovascular phenotype
p.Ser74Cys Multiple submitters Cardiovascular phenotype
p.Ter525Gln Multiple submitters Cardiovascular phenotype
p.Thr166Met Multiple submitters Cardiovascular phenotype
p.Thr196Met Multiple submitters Cardiovascular phenotype
p.Thr221Met Multiple submitters dilated cardiomyopathy
p.Thr306Arg Multiple submitters Cardiovascular phenotype
p.Thr334Ile Multiple submitters dilated cardiomyopathy
p.Thr397Met Multiple submitters Cardiovascular phenotype
p.Thr437Met Multiple submitters dilated cardiomyopathy
p.Thr474Ala Multiple submitters Cardiovascular phenotype
p.Thr493Ile Multiple submitters Cardiovascular phenotype
p.Thr499Ile Multiple submitters Cardiovascular phenotype
p.Thr518fs Multiple submitters dilated cardiomyopathy
p.Thr518Met Multiple submitters Cardiovascular phenotype
p.Thr520Arg Multiple submitters Cardiovascular phenotype
p.Trp125Arg Multiple submitters Cardiovascular phenotype
p.Trp80Arg Multiple submitters Cardiovascular phenotype
p.Tyr113Cys Multiple submitters Cardiovascular phenotype
p.Tyr113His Multiple submitters Cardiovascular phenotype
p.Tyr154Phe Multiple submitters dilated cardiomyopathy
p.Tyr194Cys Multiple submitters Cardiovascular phenotype
p.Tyr204Cys Multiple submitters dilated cardiomyopathy
p.Tyr405Cys Multiple submitters dilated cardiomyopathy
p.Tyr487Cys Multiple submitters Cardiovascular phenotype
p.Val117Ala Multiple submitters Cardiovascular phenotype
p.Val132Ala Multiple submitters Cardiovascular phenotype
p.Val136Met Multiple submitters dilated cardiomyopathy
p.Val170Ile Multiple submitters Cardiovascular phenotype
p.Val224Phe Multiple submitters dilated cardiomyopathy
p.Val284Leu Multiple submitters Cardiovascular phenotype
p.Val312Ile Multiple submitters dilated cardiomyopathy
p.Val319Ile Multiple submitters Cardiovascular phenotype
p.Val360Met Multiple submitters Cardiovascular phenotype
p.Val473Ile Multiple submitters Cardiovascular phenotype
p.Val504Ala Multiple submitters Cardiovascular phenotype
p.Val505Asp Multiple submitters Cardiovascular phenotype
p.Val65Met Multiple submitters TXNRD2-related disorder
p.Val67Met Multiple submitters Cardiovascular phenotype
p.Val71Met Multiple submitters Cardiovascular phenotype
p.Val87Ile Multiple submitters dilated cardiomyopathy
p.Val89Met Multiple submitters Cardiovascular phenotype
c.104-14A>T Single submitter dilated cardiomyopathy
c.104-3C>T Single submitter Cardiovascular phenotype
c.1086+5G>A Single submitter Cardiovascular phenotype
c.1183-10_1183-7del Single submitter dilated cardiomyopathy
c.1183-4T>C Single submitter dilated cardiomyopathy
c.1183-5T>C Single submitter Cardiovascular phenotype
c.1183-8_1183-7delinsAA Single submitter dilated cardiomyopathy
c.1275+6G>A Single submitter dilated cardiomyopathy
c.1276-1G>A Single submitter dilated cardiomyopathy
c.1276-3C>T Single submitter Cardiovascular phenotype
c.1347+1G>A Single submitter Cardiovascular phenotype
c.1347+5G>A Single submitter dilated cardiomyopathy
c.1434_1445+62dup Single submitter dilated cardiomyopathy
c.1445+7C>A Single submitter dilated cardiomyopathy
c.1446-2del Single submitter dilated cardiomyopathy
c.172+2del Single submitter Cardiovascular phenotype
c.229+4G>A Single submitter Cardiovascular phenotype
c.229+5G>C Single submitter Cardiovascular phenotype
c.229+6C>A Single submitter dilated cardiomyopathy
c.229+6del Single submitter dilated cardiomyopathy
c.230-2A>G Single submitter dilated cardiomyopathy
c.375-2A>G Single submitter Cardiovascular phenotype
c.449+1G>T Single submitter Cardiovascular phenotype
c.449+2T>G Single submitter dilated cardiomyopathy
c.449+3A>G Single submitter dilated cardiomyopathy
c.450-2A>G Single submitter dilated cardiomyopathy
c.528+6C>T Single submitter dilated cardiomyopathy
c.529-3_529-2del Single submitter dilated cardiomyopathy
c.591+4_591+5del Single submitter dilated cardiomyopathy
c.591+5G>C Single submitter Cardiovascular phenotype
c.662+6G>A Single submitter dilated cardiomyopathy
c.662+6G>T Single submitter dilated cardiomyopathy
c.663-3C>T Single submitter dilated cardiomyopathy
c.682+4T>C Single submitter Cardiovascular phenotype
c.682+5C>A Single submitter dilated cardiomyopathy
c.683-14C>A Single submitter dilated cardiomyopathy
c.683-2A>C Single submitter Cardiovascular phenotype
c.774+6G>A Single submitter dilated cardiomyopathy
c.774+6G>T Single submitter dilated cardiomyopathy
c.775-1G>A Single submitter dilated cardiomyopathy
c.949_949+21del Single submitter dilated cardiomyopathy
c.949+222C>T Single submitter glucocorticoid deficiency 5
c.949+3A>G Single submitter dilated cardiomyopathy
c.-2C>T Single submitter Cardiovascular phenotype
c.-5C>A Single submitter Cardiovascular phenotype
p.Ala101Thr Single submitter Cardiovascular phenotype
p.Ala101Val Single submitter Cardiovascular phenotype
p.Ala129Thr Single submitter dilated cardiomyopathy
p.Ala131fs Single submitter Cardiovascular phenotype
p.Ala171Val Single submitter Cardiovascular phenotype
p.Ala187Val Single submitter Cardiovascular phenotype
p.Ala201Gly Single submitter dilated cardiomyopathy
p.Ala269Val Single submitter Cardiovascular phenotype
p.Ala2Gly Single submitter
p.Ala2Val Single submitter Cardiovascular phenotype
p.Ala330Pro Single submitter Cardiovascular phenotype
p.Ala35Val Single submitter Cardiovascular phenotype
p.Ala371Thr Single submitter dilated cardiomyopathy
p.Ala374Gly Single submitter
p.Ala3Val Single submitter dilated cardiomyopathy
p.Ala417Val Single submitter Cardiovascular phenotype
p.Ala439Val Single submitter Cardiovascular phenotype
p.Ala470Thr Single submitter Cardiovascular phenotype
p.Ala488Ser Single submitter
p.Ala5Gly Single submitter dilated cardiomyopathy
p.Ala7Thr Single submitter Cardiovascular phenotype
p.Arg18Trp Single submitter dilated cardiomyopathy
p.Arg191Gln Single submitter dilated cardiomyopathy
p.Arg254Gly Single submitter Cardiovascular phenotype
p.Arg254Leu Single submitter dilated cardiomyopathy
p.Arg283Gln Single submitter dilated cardiomyopathy
p.Arg283Gly Single submitter Cardiovascular phenotype
p.Arg318Gln Single submitter Cardiovascular phenotype
p.Arg364Leu Single submitter dilated cardiomyopathy
p.Arg364Pro Single submitter Cardiovascular phenotype
p.Arg381Trp Single submitter Cardiovascular phenotype
p.Arg418Cys Single submitter dilated cardiomyopathy
p.Arg508Gly Single submitter dilated cardiomyopathy
p.Arg63Gly Single submitter dilated cardiomyopathy
p.Asn112Ile Single submitter dilated cardiomyopathy
p.Asn112Lys Single submitter Cardiovascular phenotype
p.Asn140Lys Single submitter Cardiovascular phenotype
p.Asn394= Single submitter dilated cardiomyopathy
p.Asp149Gly Single submitter Cardiovascular phenotype
p.Asp149Tyr Single submitter dilated cardiomyopathy
p.Asp182His Single submitter Cardiovascular phenotype
p.Asp298Gly Single submitter dilated cardiomyopathy
p.Asp310Asn Single submitter Cardiovascular phenotype
p.Asp344Glu Single submitter dilated cardiomyopathy
p.Asp391Glu Single submitter glucocorticoid deficiency 5
p.Asp393Gly Single submitter dilated cardiomyopathy
p.Asp41Tyr Single submitter Cardiovascular phenotype
p.Asp516His Single submitter dilated cardiomyopathy
p.Asp69Tyr Single submitter dilated cardiomyopathy
p.Cys233Ser Single submitter Cardiovascular phenotype
p.Cys500Ter Single submitter dilated cardiomyopathy
p.Cys91Arg Single submitter Cardiovascular phenotype
p.Gln258His Single submitter dilated cardiomyopathy
p.Gln259Arg Single submitter Cardiovascular phenotype
p.Gln259His Single submitter
p.Gln259Lys Single submitter dilated cardiomyopathy
p.Gln380Lys Single submitter Cardiovascular phenotype
p.Gln445Arg Single submitter dilated cardiomyopathy
p.Gln475Glu Single submitter
p.Gln489Ter Single submitter dilated cardiomyopathy
p.Gln60Ter Single submitter dilated cardiomyopathy
p.Glu199Asp Single submitter Cardiovascular phenotype
p.Glu232Gln Single submitter
p.Glu266Lys Single submitter Cardiovascular phenotype
p.Glu362= Single submitter dilated cardiomyopathy
p.Glu366Gln Single submitter Cardiovascular phenotype
p.Glu404Gly Single submitter
p.Glu422Ala Single submitter Cardiovascular phenotype
p.Glu422Asp Single submitter dilated cardiomyopathy
p.Gly104Glu Single submitter Cardiovascular phenotype
p.Gly105Asp Single submitter Cardiovascular phenotype
p.Gly105fs Single submitter Cardiovascular phenotype
p.Gly105Ser Single submitter dilated cardiomyopathy
p.Gly12Glu Single submitter Cardiovascular phenotype
p.Gly13Arg Single submitter Cardiovascular phenotype
p.Gly173fs Single submitter Cardiovascular phenotype
p.Gly219Arg Single submitter dilated cardiomyopathy
p.Gly225Arg Single submitter dilated cardiomyopathy
p.Gly225Glu Single submitter Cardiovascular phenotype
p.Gly235Asp Single submitter Cardiovascular phenotype