TBX5 — 855 ClinVar variants

All ClinVar germline TBX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 313 flagged for review →

134 Pathogenic · 9 Pathogenic/Likely pathogenic · 45 Likely pathogenic · 36 Conflicting · 54 Benign · 28 Benign/Likely benign · 201 Likely benign · 348 Uncertain significance

Full TBX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 313

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TBX5 p.Ser252Thr Likely pathogenic Multiple submitters
aortic valve disease 2
TBX5 p.Pro14Thr Pathogenic Single submitter
TBX5 p.Ser282Phe Pathogenic No assertion criteria
Holt-Oram syndrome

Predictors agree, ClinVar conflicts 24

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TBX5 p.Ala19Ser Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ala34Ser Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ala34Val Conflicting Single submitter
aortic valve disease 2
TBX5 p.Ala384Val Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ala428Thr Conflicting Single submitter
aortic valve disease 2
TBX5 p.Asn162Asp Conflicting Single submitter
aortic valve disease 2
TBX5 p.Asp516Asn Conflicting Single submitter
aortic valve disease 2
TBX5 p.Glu73Gln Conflicting Single submitter
aortic valve disease 2
TBX5 p.Gly299Ser Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Gly80Glu Conflicting Single submitter
aortic valve disease 2
TBX5 p.His425Asn Conflicting Single submitter
aortic valve disease 2
TBX5 p.Leu160Pro Conflicting Single submitter
aortic valve disease 2
TBX5 p.Leu305Pro Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Pro231Ser Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Pro23His Conflicting Single submitter
aortic valve disease 2
TBX5 p.Pro42Leu Conflicting Single submitter
aortic valve disease 2
TBX5 p.Pro485Ala Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Pro85Leu Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ser26Leu Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ser301Cys Conflicting Single submitter
aortic valve disease 2
TBX5 p.Ser372Leu Conflicting Single submitter
aortic valve disease 2
TBX5 p.Val461Met Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Val466Met Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Val493Met Conflicting Single submitter
Cardiovascular phenotype

Predictors lean, ClinVar uncertain 215

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 215

TBX5 p.Ala143Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ala34Asp Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ala440Val Uncertain significance Multiple submitters
Holt-Oram syndrome
TBX5 p.Arg355His Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Arg375Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Asn309Lys Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Asp18Glu Uncertain significance Multiple submitters
Holt-Oram syndrome
TBX5 p.Asp25Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Asp5Asn Uncertain significance Multiple submitters
Holt-Oram syndrome
TBX5 p.Gln315Arg Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Gln362Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Glu208Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Glu277Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Glu388Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Gly145Arg Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.His204Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.His317Arg Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ile320Phe Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Leu281Val Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Leu304Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Leu450Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Leu488Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Met343Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Met454Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro273Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro306Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro337His Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Pro341Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro35His Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro389Ser Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ser175Phe Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ser301Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ser372Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ser403Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ser490Phe Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ser515Asn Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Thr13Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Thr223Pro Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Thr283Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Thr324Ala Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Thr324Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Thr345Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Thr400Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Thr481Asn Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Thr481Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Tyr338Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Tyr358Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Val186Gly Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Val205Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ala117Ser Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala11Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala188Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala19Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala233Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ala31Val Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala34Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala366Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala440Ser Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ala443Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala45Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala462Ser Uncertain significance Single submitter
TBX5 p.Ala4Thr Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Arg134His Uncertain significance Single submitter
TBX5-related disorder
TBX5 p.Arg134Leu Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Arg134Pro Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Arg355Cys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Arg355Leu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Arg420Ser Uncertain significance Single submitter
TBX5 p.Arg495Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Arg61Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Arg81Lys Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Arg81Met Uncertain significance Single submitter
Holt-Oram syndrome
TBX5 p.Asn119Ser Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Asn444Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Asn517Ile Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Asn517Tyr Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Asp110Asn Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Asp21Tyr Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Asp3Asn Uncertain significance Single submitter
TBX5 p.Cys24Ser Uncertain significance Single submitter
TBX5 p.Cys331Gly Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln156Leu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln224His Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln290Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln292Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln458Pro Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln477Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Glu128Gly Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu128Lys Uncertain significance Single submitter
TBX5-related disorder
TBX5 p.Glu208Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu208Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu254Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu316Gln Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu316Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu344Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu349Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu513Ala Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu513Gly Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu69Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly169Val Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly299Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly299Asp Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly33Trp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly441Asp Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly441Ser Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly451Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly453Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly480Val Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly7Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly93Asp Uncertain significance Single submitter
TBX5 p.Gly93Ser Uncertain significance Single submitter
Holt-Oram syndrome
TBX5 p.Gly93Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly9Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly9Asp Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Gly9Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.His177Tyr Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.His271Asn Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.His322Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.His463Pro Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.His59Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ile212Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ile396Met Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ile396Val Uncertain significance Single submitter
TBX5 p.Leu10Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Leu158Phe Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu183Ser Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu287Met Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu313Pro Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Leu313Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Leu497Pro Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu63Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Leu65Pro Uncertain significance Single submitter
TBX5 p.Lys115Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Lys157Glu Uncertain significance Single submitter
TBX5 p.Lys159Thr Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Lys327Arg Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Lys66Ile Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Lys90Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Lys99Glu Uncertain significance Single submitter
TBX5 p.Met104Lys Uncertain significance Single submitter
TBX5 p.Met242Val Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met343Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Met404Leu Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Met418Val Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met442Ile Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met454Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met74Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met83Arg Uncertain significance Single submitter
Holt-Oram syndrome
TBX5 p.Met83Ile Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Phe155Leu Uncertain significance Single submitter

Predictors split 71

The independent predictors disagree with each other — read with care.

TBX5 p.Ala210Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ala377Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ala377Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Arg375Trp Benign/Likely benign Multiple submitters
Cardiovascular phenotype
TBX5 p.Asp240Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Glu243Asp Benign/Likely benign Multiple submitters
Cardiovascular phenotype
TBX5 p.Gly53Glu Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.His164Gln Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Lys266Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Met131Val Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Met250Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Met379Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Phe168Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Phe168Ser Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Phe206Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Pro96Ser Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ser141Cys Uncertain significance Multiple submitters
aortic valve disease 2
TBX5 p.Ser252Ile Pathogenic/Likely pathogenic Multiple submitters
aortic valve disease 2
TBX5 p.Ser261Cys Uncertain significance Multiple submitters
Holt-Oram syndrome
TBX5 p.Thr98Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Trp401Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Val205Phe Benign/Likely benign Multiple submitters
aortic valve disease 2
TBX5 p.Val70Met Uncertain significance Multiple submitters
Cardiovascular phenotype
TBX5 p.Ala188Val Uncertain significance Single submitter
Holt-Oram syndrome
TBX5 p.Ala200Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ala200Val Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ala210Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Arg246Gly Likely benign Single submitter
aortic valve disease 2
TBX5 p.Arg375Leu Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Asp118Gly Pathogenic Single submitter
Holt-Oram syndrome
TBX5 p.Asp189Gly Uncertain significance Single submitter
TBX5 p.Cys202Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Cys323Tyr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Cys410Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln151Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gln156His Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu128Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu243Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu62Lys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Glu69Lys Uncertain significance Single submitter
TBX5 p.Gly238Ser Uncertain significance Single submitter
TBX5 p.Gly433Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Gly53Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.His204Asn Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.His204Gln Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.His503Tyr Uncertain significance Single submitter
TBX5 p.His68Gln Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ile171Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ile212Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu152Pro Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Leu244Pro Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Lys340Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Lys90Gln Uncertain significance Single submitter
Holt-Oram syndrome
TBX5 p.Lys97Glu Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Met51Thr Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Phe430Ser Conflicting Single submitter
aortic valve disease 2
TBX5 p.Pro108Ala Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ser252Cys Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ser392Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ser40Trp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Ser498Tyr Conflicting Single submitter
Cardiovascular phenotype
TBX5 p.Ser518Arg Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Thr199Arg Uncertain significance Single submitter
TBX5 p.Tyr291Asp Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Tyr423His Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Val123Ala Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Val137Met Uncertain significance Single submitter
Cardiovascular phenotype
TBX5 p.Val257Gly Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Val89Met Uncertain significance Single submitter
aortic valve disease 2
TBX5 p.Ile54Thr Pathogenic No assertion criteria
Holt-Oram syndrome
TBX5 p.Pro85Ser Likely pathogenic No assertion criteria
Holt-Oram syndrome

All TBX5 variants

Pathogenic 134

c.148-2A>G Multiple submitters aortic valve disease 2
p.Arg237Trp Multiple submitters Cardiovascular phenotype
p.Arg279Ter Multiple submitters aortic valve disease 2
p.Asn198fs Multiple submitters aortic valve disease 2
p.Gln48Ter Multiple submitters aortic valve disease 2
p.Glu69Ter Multiple submitters TBX5-related disorder
p.Gly125Arg Multiple submitters TBX5-related disorder
p.His204fs Multiple submitters aortic valve disease 2
p.His271fs Multiple submitters TBX5-related disorder
p.Ser196Ter Multiple submitters TBX5-related disorder
p.Ser36fs Multiple submitters aortic valve disease 2
p.Thr223Met Multiple submitters TBX5-related disorder
p.Tyr136Ter Multiple submitters Holt-Oram syndrome
p.Tyr291Ter Multiple submitters Holt-Oram syndrome
p.Val153fs Multiple submitters aortic valve disease 2
c.148-1G>C Single submitter
c.148-2A>C Single submitter aortic valve disease 2
c.242+1G>T Single submitter Holt-Oram syndrome
c.243-1G>T Single submitter Holt-Oram syndrome
c.243-2A>G Single submitter aortic valve disease 2
c.362+1G>A Single submitter Holt-Oram syndrome
c.362+1G>T Single submitter aortic valve disease 2
c.511-1G>C Single submitter aortic valve disease 2
c.511-2A>C Single submitter aortic valve disease 2
c.663+1G>A Single submitter aortic valve disease 2
c.755+1G>A Single submitter aortic valve disease 2
c.755+1G>T Single submitter aortic valve disease 2
c.756-1G>C Single submitter
p.Ala146fs Single submitter
p.Ala34fs Single submitter aortic valve disease 2
p.Ala44fs Single submitter
p.Ala79_Gly80insTer Single submitter aortic valve disease 2
p.Arg113Ter Single submitter Holt-Oram syndrome
p.Arg134fs Single submitter aortic valve disease 2
p.Arg237Pro Single submitter
p.Arg260fs Single submitter aortic valve disease 2
p.Asn295fs Single submitter aortic valve disease 2
p.Asp118Gly Single submitter Holt-Oram syndrome ⚠
p.Asp140fs Single submitter
p.Cys24fs Single submitter aortic valve disease 2
p.Gln151Ter Single submitter Cardiovascular phenotype
p.Gln156fs Single submitter
p.Gln180fs Single submitter Holt-Oram syndrome
p.Gln218Ter Single submitter aortic valve disease 2
p.Gln224fs Single submitter Holt-Oram syndrome
p.Gln224Ter Single submitter
p.Gln290Ter Single submitter aortic valve disease 2
p.Gln360Ter Single submitter
p.Gln361Ter Single submitter
p.Gln362Ter Single submitter aortic valve disease 2
p.Glu254Ter Single submitter aortic valve disease 2
p.Glu294Ter Single submitter
p.Glu29Ter Single submitter aortic valve disease 2
p.Glu52Ter Single submitter aortic valve disease 2
p.Glu60Ter Single submitter
p.Gly145fs Single submitter aortic valve disease 2
p.His177fs Single submitter Holt-Oram syndrome
p.His68fs Single submitter
p.Ile212fs Single submitter aortic valve disease 2
p.Ile320fs Single submitter aortic valve disease 2
p.Leu158fs Single submitter
p.Leu94fs Single submitter aortic valve disease 2
p.Lys126fs Single submitter aortic valve disease 2
p.Lys157fs Single submitter
p.Lys197Ter Single submitter aortic valve disease 2
p.Lys55fs Single submitter
p.Lys88fs Single submitter aortic valve disease 2
p.Lys99_Tyr100insTer Single submitter
p.Met131fs Single submitter aortic valve disease 2
p.Met149fs Single submitter Cardiovascular phenotype
p.Phe232Leu Single submitter Holt-Oram syndrome
p.Phe232Val Single submitter aortic valve disease 2
p.Phe84Leu Single submitter aortic valve disease 2
p.Pro14Thr Single submitter ⚠
p.Pro307fs Single submitter aortic valve disease 2
p.Pro39fs Single submitter aortic valve disease 2
p.Ser141fs Single submitter
p.Ser285fs Single submitter aortic valve disease 2
p.Ser30fs Single submitter Paediatric disorders
p.Ser346Ter Single submitter aortic valve disease 2
p.Ser348fs Single submitter aortic valve disease 2
p.Ser372Ter Single submitter aortic valve disease 2
p.Thr199fs Single submitter aortic valve disease 2
p.Thr47fs Single submitter aortic valve disease 2
p.Trp64Ter Single submitter
p.Tyr114Ter Single submitter aortic valve disease 2
p.Tyr255Ter Single submitter aortic valve disease 2
p.Tyr311Ter Single submitter aortic valve disease 2
p.Tyr321Ter Single submitter aortic valve disease 2
p.Tyr338fs Single submitter aortic valve disease 2
p.Tyr368Ter Single submitter aortic valve disease 2
p.Tyr407Ter Single submitter mitral valve insufficiency
c.1033_1034dupGA No assertion criteria Holt-Oram syndrome
c.(362+1_363-1 No assertion criteria Holt-Oram syndrome
c.(510+1_511-1 No assertion criteria Holt-Oram syndrome
c.(663+1_664-1 No assertion criteria Holt-Oram syndrome
c.67_81delins No assertion criteria Holt-Oram syndrome
c.946C>T No assertion criteria Holt-Oram syndrome
c.(982+1_983-1 No assertion criteria Holt-Oram syndrome
c.(?_-38 No assertion criteria Holt-Oram syndrome
c.(?_-667 No assertion criteria Holt-Oram syndrome
p.Ala143fs No assertion criteria Holt-Oram syndrome
p.Arg113Lys No assertion criteria
p.Asn191fs No assertion criteria Holt-Oram syndrome
p.Asn309fs No assertion criteria Holt-Oram syndrome
p.Asp166fs No assertion criteria Holt-Oram syndrome
p.Asp25fs No assertion criteria Holt-Oram syndrome
p.Cys293Ter No assertion criteria Holt-Oram syndrome
p.Gln302fs No assertion criteria Holt-Oram syndrome
p.Gln315Ter No assertion criteria Holt-Oram syndrome
p.Gln449fs No assertion criteria Holt-Oram syndrome
p.Gln49Lys No assertion criteria Holt-Oram syndrome
p.Glu243fs No assertion criteria Holt-Oram syndrome
p.Glu328fs No assertion criteria Holt-Oram syndrome
p.Glu349Ter No assertion criteria Holt-Oram syndrome
p.Gly235Ter No assertion criteria Holt-Oram syndrome
p.Gly80Arg No assertion criteria Holt-Oram syndrome
p.His112fs No assertion criteria Holt-Oram syndrome
p.Ile227fs No assertion criteria Holt-Oram syndrome
p.Ile54Thr No assertion criteria Holt-Oram syndrome ⚠
p.Leu225Ter No assertion criteria Holt-Oram syndrome
p.Leu435fs No assertion criteria Holt-Oram syndrome
p.Lys88Ter No assertion criteria Holt-Oram syndrome
p.Lys99Ter No assertion criteria Holt-Oram syndrome
p.Met83fs No assertion criteria Holt-Oram syndrome
p.Pro139fs No assertion criteria Holt-Oram syndrome
p.Pro167fs No assertion criteria Holt-Oram syndrome
p.Pro359fs No assertion criteria Holt-Oram syndrome
p.Ser239fs No assertion criteria Holt-Oram syndrome
p.Ser282Phe No assertion criteria Holt-Oram syndrome ⚠
p.Ser40Ter No assertion criteria Holt-Oram syndrome
p.Trp148Ter No assertion criteria atrial septal defect 1
p.Tyr179Ter No assertion criteria Holt-Oram syndrome
p.Val56fs No assertion criteria Holt-Oram syndrome

Pathogenic/Likely pathogenic 9

c.242+1G>A Multiple submitters Holt-Oram syndrome
c.243-1G>A Multiple submitters Cardiovascular phenotype
c.362+2T>C Multiple submitters Cardiovascular phenotype
c.756-2A>G Multiple submitters TBX5-related disorder
c.982+1G>A Multiple submitters TBX5-related disorder
c.982+2T>G Multiple submitters Cardiovascular phenotype
p.Arg237Gln Multiple submitters TBX5-related disorder
p.Ser252Ile Multiple submitters aortic valve disease 2 ⚠
p.Tyr87Ter Multiple submitters Holt-Oram syndrome

Likely pathogenic 45

p.Gln376Ter Multiple submitters Holt-Oram syndrome
p.Ser252Thr Multiple submitters aortic valve disease 2 ⚠
p.Thr496fs Multiple submitters aortic valve disease 2
c.242+5G>A Single submitter Holt-Oram syndrome
c.243-1_261dup Single submitter TBX5-related disorder
c.243-16C>A Single submitter TBX5-related disorder
c.363-2A>G Single submitter aortic valve disease 2
c.511-1del Single submitter aortic valve disease 2
c.511-1G>A Single submitter TBX5-related disorder
c.664-342G>T Single submitter Holt-Oram syndrome
c.756-634_756-632delinsGTG Single submitter Holt-Oram syndrome
p.Ala233Pro Single submitter
p.Ala373fs Single submitter
p.Arg150delinsIleGlyTer Single submitter TBX5-related disorder
p.Asn162Lys Single submitter aortic valve disease 2
p.Asn444fs Single submitter Holt-Oram syndrome
p.Asp3fs Single submitter TBX5-related disorder
p.Gln302Ter Single submitter TBX5-related disorder
p.Glu277fs Single submitter TBX5-related disorder
p.Glu29fs Single submitter TBX5-related disorder
p.Glu329fs Single submitter Congenital heart disease (variable)
p.Gly169Glu Single submitter
p.Gly235Glu Single submitter Holt-Oram syndrome
p.Gly365fs Single submitter TBX5-related disorder
p.His220del Single submitter aortic valve disease 2
p.Leu135Arg Single submitter familial atrioventricular septal defect
p.Leu63fs Single submitter
p.Lys126_Arg134del Single submitter
p.Lys226Glu Single submitter
p.Met74Arg Single submitter TBX5-related disorder
p.Pro132Thr Single submitter Holt-Oram syndrome
p.Ser387fs Single submitter
p.Ser397fs Single submitter TBX5-related disorder
p.Thr262fs Single submitter Holt-Oram syndrome
p.Trp121Leu Single submitter Holt-Oram syndrome
p.Trp401Ter Single submitter Cardiovascular phenotype
p.Tyr338Ter Single submitter TBX5-related disorder
c.510+1G>T No assertion criteria Holt-Oram syndrome
c.510+5G>C No assertion criteria Holt-Oram syndrome
c.664-2A>G No assertion criteria Holt-Oram syndrome
c.755+2T>C No assertion criteria Holt-Oram syndrome
p.Ile101Phe No assertion criteria Abnormal heart morphology
p.Lys226Arg No assertion criteria Holt-Oram syndrome
p.Pro85Ser No assertion criteria Holt-Oram syndrome ⚠
p.Pro85Thr No assertion criteria atrial septal defect

Conflicting classifications of pathogenicity 36

c.148-3C>A Single submitter Holt-Oram syndrome
c.242+4A>G Single submitter Holt-Oram syndrome
c.510+5G>A Single submitter Cardiovascular phenotype
c.664-11C>T Single submitter Holt-Oram syndrome
p.Ala19Ser Single submitter Cardiovascular phenotype ⚠
p.Ala34Ser Single submitter Cardiovascular phenotype ⚠
p.Ala34Val Single submitter aortic valve disease 2 ⚠
p.Ala384Val Single submitter Cardiovascular phenotype ⚠
p.Ala428Thr Single submitter aortic valve disease 2 ⚠
p.Asn162Asp Single submitter aortic valve disease 2 ⚠
p.Asp516Asn Single submitter aortic valve disease 2 ⚠
p.Glu73Gln Single submitter aortic valve disease 2 ⚠
p.Gly299Ser Single submitter Cardiovascular phenotype ⚠
p.Gly80Glu Single submitter aortic valve disease 2 ⚠
p.His425Asn Single submitter aortic valve disease 2 ⚠
p.Leu152= Single submitter Holt-Oram syndrome
p.Leu160Pro Single submitter aortic valve disease 2 ⚠
p.Leu305Pro Single submitter Cardiovascular phenotype ⚠
p.Phe430Ser Single submitter aortic valve disease 2 ⚠
p.Pro231Ser Single submitter Cardiovascular phenotype ⚠
p.Pro23His Single submitter aortic valve disease 2 ⚠
p.Pro42Leu Single submitter aortic valve disease 2 ⚠
p.Pro485Ala Single submitter Cardiovascular phenotype ⚠
p.Pro85Leu Single submitter Cardiovascular phenotype ⚠
p.Ser252Asn Single submitter
p.Ser26Leu Single submitter Cardiovascular phenotype ⚠
p.Ser276= Single submitter Cardiovascular phenotype
p.Ser282= Single submitter Holt-Oram syndrome
p.Ser301Cys Single submitter aortic valve disease 2 ⚠
p.Ser372= Single submitter Cardiovascular phenotype
p.Ser372Leu Single submitter aortic valve disease 2 ⚠
p.Ser498Tyr Single submitter Cardiovascular phenotype ⚠
p.Val257Met Single submitter Cardiovascular phenotype
p.Val461Met Single submitter Cardiovascular phenotype ⚠
p.Val466Met Single submitter Cardiovascular phenotype ⚠
p.Val493Met Single submitter Cardiovascular phenotype ⚠

Benign 54

c.148-19T>A Multiple submitters aortic valve disease 2
c.663+34C>T Multiple submitters
c.663+36G>T Multiple submitters Holt-Oram syndrome
c.664-161T>C Multiple submitters
c.755+94C>A Multiple submitters
c.-39+12C>A Multiple submitters Holt-Oram syndrome
c.*1101A>G Multiple submitters Holt-Oram syndrome
c.*384T>C Multiple submitters Holt-Oram syndrome
c.*40A>G Multiple submitters Holt-Oram syndrome
c.*739T>C Multiple submitters Holt-Oram syndrome
c.*77A>G Multiple submitters Holt-Oram syndrome
c.*812C>T Multiple submitters Holt-Oram syndrome
c.*97G>A Multiple submitters Holt-Oram syndrome
p.Leu103= Multiple submitters Holt-Oram syndrome
p.Ser427= Multiple submitters Cardiovascular phenotype
c.148-206A>C Single submitter
c.243-284T>C Single submitter
c.243-324C>T Single submitter
c.362+84dup Single submitter
c.362+98del Single submitter
c.663+186A>G Single submitter
c.664-287_664-286dup Single submitter
c.664-287dup Single submitter
c.982+320_982+321dup Single submitter
c.982+320dup Single submitter
c.982+329_982+335del Single submitter
c.982+335del Single submitter
c.983-146A>C Single submitter
c.983-292A>G Single submitter
c.-167G>A Single submitter Holt-Oram syndrome
c.-305C>A Single submitter Holt-Oram syndrome
c.-377C>T Single submitter Holt-Oram syndrome
c.-38-255T>C Single submitter
c.-39+113A>G Single submitter
c.-449G>C Single submitter Holt-Oram syndrome
c.-545C>T Single submitter Holt-Oram syndrome
c.-586C>G Single submitter Holt-Oram syndrome
c.-648C>G Single submitter Holt-Oram syndrome
c.-664G>A Single submitter Holt-Oram syndrome
c.*1188T>C Single submitter Holt-Oram syndrome
c.*121A>G Single submitter Holt-Oram syndrome
c.*1331T>G Single submitter Holt-Oram syndrome
c.*1373G>T Single submitter Holt-Oram syndrome
c.*306C>T Single submitter Holt-Oram syndrome
c.*480G>A Single submitter Holt-Oram syndrome
c.*4G>T Single submitter Holt-Oram syndrome
c.*524A>T Single submitter Holt-Oram syndrome
c.*563G>A Single submitter Holt-Oram syndrome
c.*601G>A Single submitter Holt-Oram syndrome
c.*673C>T Single submitter Holt-Oram syndrome
c.*909A>G Single submitter Holt-Oram syndrome
c.*960A>G Single submitter Holt-Oram syndrome
p.Arg82= Single submitter
p.Ser154= Single submitter aortic valve disease 2

Benign/Likely benign 28

c.147+13C>A Multiple submitters aortic valve disease 2
c.363-6A>G Multiple submitters Holt-Oram syndrome
c.982+16C>T Multiple submitters aortic valve disease 2
p.Ala213= Multiple submitters Cardiovascular phenotype
p.Ala384= Multiple submitters Cardiovascular phenotype
p.Arg249= Multiple submitters Cardiovascular phenotype
p.Arg264Lys Multiple submitters Holt-Oram syndrome
p.Arg375Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg438Gln Multiple submitters aortic valve disease 2
p.Asp111Tyr Multiple submitters Cardiovascular phenotype
p.Asp118= Multiple submitters aortic valve disease 2
p.Gln483= Multiple submitters Cardiovascular phenotype
p.Glu243Asp Multiple submitters Cardiovascular phenotype ⚠
p.Glu316= Multiple submitters Cardiovascular phenotype
p.Glu6Lys Multiple submitters Cardiovascular phenotype
p.Gly475= Multiple submitters Cardiovascular phenotype
p.Ile106= Multiple submitters Cardiovascular phenotype
p.Ile106Val Multiple submitters Cardiovascular phenotype
p.Pro386His Multiple submitters Cardiovascular phenotype
p.Ser276Asn Multiple submitters Cardiovascular phenotype
p.Ser38= Multiple submitters Cardiovascular phenotype
p.Ser515= Multiple submitters aortic valve disease 2
p.Thr262= Multiple submitters Cardiovascular phenotype
p.Thr47= Multiple submitters Cardiovascular phenotype
p.Thr98= Multiple submitters aortic valve disease 2
p.Val205Phe Multiple submitters aortic valve disease 2 ⚠
p.Val263Met Multiple submitters Cardiovascular phenotype
p.Val412Ile Multiple submitters Cardiovascular phenotype

Likely benign 201

c.147+9A>T Multiple submitters Holt-Oram syndrome
c.510+13G>T Multiple submitters aortic valve disease 2
c.982+14C>T Multiple submitters aortic valve disease 2
c.982+20G>A Multiple submitters aortic valve disease 2
c.-38-211T>C Multiple submitters
p.Ala109= Multiple submitters Cardiovascular phenotype
p.Ala146= Multiple submitters aortic valve disease 2
p.Ala188= Multiple submitters Cardiovascular phenotype
p.Ala19= Multiple submitters Cardiovascular phenotype
p.Ala2= Multiple submitters Cardiovascular phenotype
p.Ala200= Multiple submitters aortic valve disease 2
p.Ala268= Multiple submitters Cardiovascular phenotype
p.Ala366= Multiple submitters aortic valve disease 2
p.Arg279Gln Multiple submitters Cardiovascular phenotype
p.Asn192= Multiple submitters Cardiovascular phenotype
p.Asn270= Multiple submitters Cardiovascular phenotype
p.Asp241= Multiple submitters Cardiovascular phenotype
p.Asp5= Multiple submitters aortic valve disease 2
p.Gln302= Multiple submitters aortic valve disease 2
p.Glu29= Multiple submitters Cardiovascular phenotype
p.Glu371= Multiple submitters aortic valve disease 2
p.Gly125= Multiple submitters Cardiovascular phenotype
p.Gly471= Multiple submitters Cardiovascular phenotype
p.Gly492= Multiple submitters Cardiovascular phenotype
p.Gly50= Multiple submitters Cardiovascular phenotype
p.His204= Multiple submitters aortic valve disease 2
p.His506= Multiple submitters Cardiovascular phenotype
p.His59= Multiple submitters Cardiovascular phenotype
p.His68= Multiple submitters Cardiovascular phenotype
p.Ile75= Multiple submitters Cardiovascular phenotype
p.Leu244= Multiple submitters Cardiovascular phenotype
p.Leu497= Multiple submitters aortic valve disease 2
p.Lys88= Multiple submitters Cardiovascular phenotype
p.Phe155= Multiple submitters Cardiovascular phenotype
p.Phe232= Multiple submitters Cardiovascular phenotype
p.Pro17= Multiple submitters Cardiovascular phenotype
p.Pro256= Multiple submitters Cardiovascular phenotype
p.Pro359= Multiple submitters aortic valve disease 2
p.Pro39= Multiple submitters aortic valve disease 2
p.Pro39Ser Multiple submitters aortic valve disease 2
p.Pro402= Multiple submitters Cardiovascular phenotype
p.Pro434= Multiple submitters Cardiovascular phenotype
p.Ser239= Multiple submitters Cardiovascular phenotype
p.Ser278= Multiple submitters aortic valve disease 2
p.Ser285= Multiple submitters Cardiovascular phenotype
p.Ser289Ala Multiple submitters Cardiovascular phenotype
p.Ser298= Multiple submitters Cardiovascular phenotype
p.Ser387= Multiple submitters Cardiovascular phenotype
p.Ser432= Multiple submitters Cardiovascular phenotype
p.Ser460= Multiple submitters Cardiovascular phenotype
p.Ser518= Multiple submitters Cardiovascular phenotype
p.Thr144= Multiple submitters Cardiovascular phenotype
p.Thr203= Multiple submitters Cardiovascular phenotype
p.Thr209= Multiple submitters Cardiovascular phenotype
p.Thr223= Multiple submitters Cardiovascular phenotype
p.Thr411= Multiple submitters aortic valve disease 2
p.Thr414= Multiple submitters Cardiovascular phenotype
p.Thr431= Multiple submitters Cardiovascular phenotype
p.Thr481= Multiple submitters Cardiovascular phenotype
p.Thr496= Multiple submitters aortic valve disease 2
p.Thr72= Multiple submitters aortic valve disease 2
p.Thr77= Multiple submitters Cardiovascular phenotype
p.Thr92= Multiple submitters aortic valve disease 2
p.Val415Met Multiple submitters Cardiovascular phenotype
c.147+13C>G Single submitter aortic valve disease 2
c.147+17C>T Single submitter aortic valve disease 2
c.147+194G>A Single submitter
c.147+8_147+10del Single submitter aortic valve disease 2
c.148-231G>T Single submitter
c.242+15T>C Single submitter aortic valve disease 2
c.242+18G>A Single submitter aortic valve disease 2
c.242+9G>A Single submitter aortic valve disease 2
c.242+9G>T Single submitter aortic valve disease 2
c.243-13C>T Single submitter aortic valve disease 2
c.243-19C>T Single submitter aortic valve disease 2
c.243-20_243-5del Single submitter aortic valve disease 2
c.243-7C>G Single submitter
c.362+13G>T Single submitter aortic valve disease 2
c.362+17C>T Single submitter
c.362+233C>T Single submitter
c.362+84_362+86dup Single submitter
c.362+97_362+98del Single submitter
c.363-17A>C Single submitter aortic valve disease 2
c.363-82G>A Single submitter
c.510+7A>T Single submitter
c.510+8C>A Single submitter aortic valve disease 2
c.511-20A>G Single submitter aortic valve disease 2
c.511-9del Single submitter aortic valve disease 2
c.663+12G>A Single submitter aortic valve disease 2
c.663+16A>G Single submitter aortic valve disease 2
c.664-13C>T Single submitter
c.664-14C>T Single submitter aortic valve disease 2
c.664-274del Single submitter
c.664-6C>T Single submitter aortic valve disease 2
c.755+11G>A Single submitter aortic valve disease 2
c.755+17del Single submitter aortic valve disease 2
c.755+35A>G Single submitter
c.982+11T>G Single submitter aortic valve disease 2
c.982+24A>G Single submitter
c.983-10G>C Single submitter
c.983-12C>T Single submitter aortic valve disease 2
c.983-13C>T Single submitter aortic valve disease 2
c.983-8C>T Single submitter aortic valve disease 2
c.-308G>A Single submitter
c.-38-237G>T Single submitter
c.*836A>C Single submitter Holt-Oram syndrome
p.Ala11= Single submitter aortic valve disease 2
p.Ala127= Single submitter Cardiovascular phenotype
p.Ala210= Single submitter Cardiovascular phenotype
p.Ala31= Single submitter Cardiovascular phenotype
p.Ala34= Single submitter aortic valve disease 2
p.Ala428= Single submitter Cardiovascular phenotype
p.Ala462= Single submitter Cardiovascular phenotype
p.Arg150= Single submitter Cardiovascular phenotype
p.Arg246= Single submitter aortic valve disease 2
p.Arg246Gly Single submitter aortic valve disease 2 ⚠
p.Arg260= Single submitter aortic valve disease 2
p.Arg369= Single submitter Cardiovascular phenotype
p.Arg375= Single submitter Cardiovascular phenotype
p.Arg495= Single submitter Cardiovascular phenotype
p.Asn163= Single submitter Cardiovascular phenotype
p.Asn219= Single submitter Cardiovascular phenotype
p.Asn444= Single submitter aortic valve disease 2
p.Cys398= Single submitter aortic valve disease 2
p.Cys410= Single submitter
p.Gln251= Single submitter Cardiovascular phenotype
p.Gln265= Single submitter Cardiovascular phenotype
p.Gln290= Single submitter Cardiovascular phenotype
p.Gln469His Single submitter Cardiovascular phenotype
p.Gln48= Single submitter Cardiovascular phenotype
p.Glu128= Single submitter Cardiovascular phenotype
p.Glu329= Single submitter
p.Glu52= Single submitter Cardiovascular phenotype
p.Gly145= Single submitter
p.Gly193= Single submitter aortic valve disease 2
p.Gly288= Single submitter aortic valve disease 2
p.Gly33= Single submitter Cardiovascular phenotype
p.Gly480= Single submitter Cardiovascular phenotype
p.His12= Single submitter aortic valve disease 2
p.His147= Single submitter
p.His177= Single submitter Cardiovascular phenotype
p.His317= Single submitter Cardiovascular phenotype
p.Ile185= Single submitter aortic valve disease 2
p.Leu10= Single submitter Cardiovascular phenotype
p.Leu135= Single submitter Cardiovascular phenotype
p.Leu281= Single submitter
p.Leu281Arg Single submitter aortic valve disease 2
p.Leu305= Single submitter Cardiovascular phenotype
p.Leu313= Single submitter Cardiovascular phenotype
p.Leu435= Single submitter Cardiovascular phenotype
p.Leu488= Single submitter aortic valve disease 2
p.Leu58= Single submitter Cardiovascular phenotype
p.Lys157= Single submitter Cardiovascular phenotype
p.Lys340= Single submitter Cardiovascular phenotype
p.Lys37= Single submitter Cardiovascular phenotype
p.Lys78= Single submitter Cardiovascular phenotype
p.Phe206= Single submitter Cardiovascular phenotype
p.Pro132= Single submitter Cardiovascular phenotype
p.Pro139= Single submitter Cardiovascular phenotype
p.Pro142= Single submitter Cardiovascular phenotype
p.Pro167= Single submitter Cardiovascular phenotype
p.Pro181= Single submitter Cardiovascular phenotype
p.Pro273= Single submitter Cardiovascular phenotype
p.Pro28= Single submitter Cardiovascular phenotype
p.Pro307= Single submitter Cardiovascular phenotype
p.Pro308Ser Single submitter Holt-Oram syndrome
p.Pro310= Single submitter Cardiovascular phenotype
p.Pro312= Single submitter Cardiovascular phenotype
p.Pro314= Single submitter Cardiovascular phenotype
p.Pro337= Single submitter Cardiovascular phenotype
p.Pro341= Single submitter Cardiovascular phenotype
p.Pro385= Single submitter aortic valve disease 2
p.Pro386Leu Single submitter Cardiovascular phenotype
p.Pro417= Single submitter
p.Pro42= Single submitter Cardiovascular phenotype
p.Pro484His Single submitter aortic valve disease 2
p.Pro485Ser Single submitter Cardiovascular phenotype
p.Pro85= Single submitter aortic valve disease 2
p.Ser141= Single submitter Cardiovascular phenotype
p.Ser196= Single submitter Cardiovascular phenotype
p.Ser272= Single submitter Cardiovascular phenotype
p.Ser284= Single submitter Cardiovascular phenotype
p.Ser289= Single submitter Cardiovascular phenotype
p.Ser318= Single submitter Cardiovascular phenotype
p.Ser332= Single submitter Cardiovascular phenotype
p.Ser348= Single submitter Cardiovascular phenotype
p.Ser40= Single submitter Cardiovascular phenotype
p.Ser408= Single submitter Cardiovascular phenotype
p.Thr124= Single submitter Cardiovascular phenotype
p.Thr161= Single submitter
p.Thr283= Single submitter Cardiovascular phenotype
p.Thr283Ala Single submitter Cardiovascular phenotype
p.Thr370= Single submitter aortic valve disease 2
p.Thr400= Single submitter Cardiovascular phenotype
p.Thr459= Single submitter Cardiovascular phenotype
p.Tyr136= Single submitter aortic valve disease 2
p.Tyr179= Single submitter aortic valve disease 2
p.Val415= Single submitter Cardiovascular phenotype
p.Val505= Single submitter aortic valve disease 2
p.Val508= Single submitter aortic valve disease 2
p.Val56= Single submitter Cardiovascular phenotype

Uncertain significance 348

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

c.*1071C>T Multiple submitters Holt-Oram syndrome
c.*1511G>A Multiple submitters Holt-Oram syndrome
p.Ala143Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala210Pro Multiple submitters Cardiovascular phenotype ⚠
p.Ala2Thr Multiple submitters Cardiovascular phenotype
p.Ala34Asp Multiple submitters aortic valve disease 2 ⚠
p.Ala377Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala377Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala440Val Multiple submitters Holt-Oram syndrome ⚠
p.Arg355His Multiple submitters Cardiovascular phenotype ⚠
p.Arg375Gln Multiple submitters Cardiovascular phenotype ⚠
p.Asn309Lys Multiple submitters aortic valve disease 2 ⚠
p.Asp18Glu Multiple submitters Holt-Oram syndrome ⚠
p.Asp240Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp25Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp5Asn Multiple submitters Holt-Oram syndrome ⚠
p.Gln315Arg Multiple submitters aortic valve disease 2 ⚠
p.Gln362Glu Multiple submitters Cardiovascular phenotype ⚠
p.Glu208Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu277Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu388Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly145Arg Multiple submitters aortic valve disease 2 ⚠
p.Gly507Arg Multiple submitters aortic valve disease 2
p.Gly50Ser Multiple submitters aortic valve disease 2
p.Gly53Glu Multiple submitters aortic valve disease 2 ⚠
p.His164Gln Multiple submitters aortic valve disease 2 ⚠
p.His204Asp Multiple submitters Cardiovascular phenotype ⚠
p.His317Arg Multiple submitters aortic valve disease 2 ⚠
p.Ile320Phe Multiple submitters aortic valve disease 2 ⚠
p.Leu281Val Multiple submitters aortic valve disease 2 ⚠
p.Leu304Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu450Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu488Phe Multiple submitters Cardiovascular phenotype ⚠
p.Lys266Asn Multiple submitters Cardiovascular phenotype ⚠
p.Met131Val Multiple submitters Cardiovascular phenotype ⚠
p.Met250Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met343Ile Multiple submitters Cardiovascular phenotype ⚠
p.Met379Leu Multiple submitters Cardiovascular phenotype ⚠
p.Met454Ile Multiple submitters Cardiovascular phenotype ⚠
p.Phe168Leu Multiple submitters Cardiovascular phenotype ⚠
p.Phe168Ser Multiple submitters aortic valve disease 2 ⚠
p.Phe206Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro273Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro306Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro337His Multiple submitters aortic valve disease 2 ⚠
p.Pro341Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro35His Multiple submitters Cardiovascular phenotype ⚠
p.Pro389Ser Multiple submitters aortic valve disease 2 ⚠
p.Pro96Ser Multiple submitters aortic valve disease 2 ⚠
p.Ser141Cys Multiple submitters aortic valve disease 2 ⚠
p.Ser175Phe Multiple submitters aortic valve disease 2 ⚠
p.Ser261Cys Multiple submitters Holt-Oram syndrome ⚠
p.Ser301Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser372Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ser403Asn Multiple submitters Cardiovascular phenotype ⚠
p.Ser490Phe Multiple submitters aortic valve disease 2 ⚠
p.Ser515Asn Multiple submitters aortic valve disease 2 ⚠
p.Thr13Lys Multiple submitters Cardiovascular phenotype ⚠
p.Thr223Pro Multiple submitters aortic valve disease 2 ⚠
p.Thr283Asn Multiple submitters Cardiovascular phenotype ⚠
p.Thr324Ala Multiple submitters aortic valve disease 2 ⚠
p.Thr324Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr345Ala Multiple submitters Cardiovascular phenotype ⚠
p.Thr400Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr481Asn Multiple submitters aortic valve disease 2 ⚠
p.Thr481Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr98Met Multiple submitters Cardiovascular phenotype ⚠
p.Trp401Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr338Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr358Cys Multiple submitters Cardiovascular phenotype ⚠
p.Tyr87Cys Multiple submitters Cardiovascular phenotype
p.Val186Gly Multiple submitters aortic valve disease 2 ⚠
p.Val205Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val70Met Multiple submitters Cardiovascular phenotype ⚠
c.147+3A>G Single submitter Cardiovascular phenotype
c.363-4C>A Single submitter Cardiovascular phenotype
c.510+3G>A Single submitter Cardiovascular phenotype
c.663+4A>T Single submitter Holt-Oram syndrome
c.663+6C>G Single submitter aortic valve disease 2
c.755+4G>A Single submitter aortic valve disease 2
c.983-1761C>T Single submitter
c.-107T>C Single submitter Holt-Oram syndrome
c.-132G>A Single submitter Holt-Oram syndrome
c.-153T>G Single submitter Holt-Oram syndrome
c.-1C>A Single submitter Cardiovascular phenotype
c.-1C>T Single submitter Cardiovascular phenotype
c.-255G>T Single submitter Holt-Oram syndrome
c.-347C>G Single submitter Holt-Oram syndrome
c.-403G>C Single submitter Holt-Oram syndrome
c.-42G>A Single submitter Holt-Oram syndrome
c.-481T>C Single submitter Holt-Oram syndrome
c.-487G>A Single submitter Holt-Oram syndrome
c.-503C>T Single submitter Holt-Oram syndrome
c.-637G>A Single submitter Holt-Oram syndrome
c.*1111T>C Single submitter Holt-Oram syndrome
c.*1196T>C Single submitter Holt-Oram syndrome
c.*129A>G Single submitter Holt-Oram syndrome
c.*1344G>A Single submitter Holt-Oram syndrome
c.*1446T>G Single submitter Holt-Oram syndrome
c.*147T>C Single submitter Holt-Oram syndrome
c.*1548C>T Single submitter Holt-Oram syndrome
c.*277C>T Single submitter Holt-Oram syndrome
c.*439T>A Single submitter Holt-Oram syndrome
c.*545C>G Single submitter Holt-Oram syndrome
c.*702T>C Single submitter Holt-Oram syndrome
c.*717C>T Single submitter Holt-Oram syndrome
c.*718G>A Single submitter Holt-Oram syndrome
c.*795G>T Single submitter Holt-Oram syndrome
c.*806C>G Single submitter Holt-Oram syndrome
c.*852C>T Single submitter Holt-Oram syndrome
c.*856T>A Single submitter Holt-Oram syndrome
c.*875A>C Single submitter Holt-Oram syndrome
c.*926T>C Single submitter Holt-Oram syndrome
p.Ala117Ser Single submitter Cardiovascular phenotype ⚠
p.Ala11Glu Single submitter Cardiovascular phenotype ⚠
p.Ala130Val Single submitter Cardiovascular phenotype
p.Ala188Glu Single submitter Cardiovascular phenotype ⚠
p.Ala188Val Single submitter Holt-Oram syndrome ⚠
p.Ala19Thr Single submitter Cardiovascular phenotype ⚠
p.Ala200Glu Single submitter Cardiovascular phenotype ⚠
p.Ala200Val Single submitter aortic valve disease 2 ⚠
p.Ala210_Thr215del Single submitter aortic valve disease 2
p.Ala210Glu Single submitter Cardiovascular phenotype ⚠
p.Ala210Val Single submitter
p.Ala233Val Single submitter aortic valve disease 2 ⚠
p.Ala31Val Single submitter Cardiovascular phenotype ⚠
p.Ala34Thr Single submitter Cardiovascular phenotype ⚠
p.Ala366Thr Single submitter Cardiovascular phenotype ⚠
p.Ala440Ser Single submitter aortic valve disease 2 ⚠
p.Ala443Asp Single submitter Cardiovascular phenotype ⚠
p.Ala45Thr Single submitter Cardiovascular phenotype ⚠
p.Ala462Ser Single submitter ⚠
p.Ala4Thr Single submitter aortic valve disease 2 ⚠
p.Arg134His Single submitter TBX5-related disorder ⚠
p.Arg134Leu Single submitter aortic valve disease 2 ⚠
p.Arg134Pro Single submitter aortic valve disease 2 ⚠
p.Arg355Cys Single submitter Cardiovascular phenotype ⚠
p.Arg355Leu Single submitter Cardiovascular phenotype ⚠
p.Arg375Leu Single submitter aortic valve disease 2 ⚠
p.Arg420Ser Single submitter ⚠
p.Arg438Trp Single submitter Cardiovascular phenotype
p.Arg495Lys Single submitter Cardiovascular phenotype ⚠
p.Arg61Lys Single submitter Cardiovascular phenotype ⚠
p.Arg81Lys Single submitter aortic valve disease 2 ⚠
p.Arg81Met Single submitter Holt-Oram syndrome ⚠
p.Asn119Ser Single submitter Cardiovascular phenotype ⚠
p.Asn163del Single submitter aortic valve disease 2
p.Asn295Lys Single submitter Cardiovascular phenotype
p.Asn444Lys Single submitter Cardiovascular phenotype ⚠
p.Asn517Ile Single submitter Cardiovascular phenotype ⚠
p.Asn517Tyr Single submitter aortic valve disease 2 ⚠
p.Asp110Asn Single submitter Cardiovascular phenotype ⚠
p.Asp140_Pro142del Single submitter aortic valve disease 2
p.Asp189Gly Single submitter ⚠
p.Asp21Tyr Single submitter aortic valve disease 2 ⚠
p.Asp395Gly Single submitter Cardiovascular phenotype
p.Asp3Asn Single submitter ⚠
p.Cys202Arg Single submitter Cardiovascular phenotype ⚠
p.Cys24Ser Single submitter ⚠
p.Cys323Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys331Gly Single submitter Cardiovascular phenotype ⚠
p.Cys410Arg Single submitter Cardiovascular phenotype ⚠
p.Gln151Glu Single submitter Cardiovascular phenotype ⚠
p.Gln156His Single submitter Cardiovascular phenotype ⚠
p.Gln156Leu Single submitter Cardiovascular phenotype ⚠
p.Gln224His Single submitter Cardiovascular phenotype ⚠
p.Gln290Glu Single submitter Cardiovascular phenotype ⚠
p.Gln292Lys Single submitter Cardiovascular phenotype ⚠
p.Gln424Lys Single submitter Cardiovascular phenotype
p.Gln458Pro Single submitter Cardiovascular phenotype ⚠
p.Gln464Ter Single submitter Cardiovascular phenotype
p.Gln469fs Single submitter
p.Gln477Arg Single submitter aortic valve disease 2 ⚠
p.Gln477Ter Single submitter aortic valve disease 2
p.Glu128Asp Single submitter Cardiovascular phenotype ⚠
p.Glu128Gly Single submitter Cardiovascular phenotype ⚠
p.Glu128Lys Single submitter TBX5-related disorder ⚠
p.Glu208Asp Single submitter Cardiovascular phenotype ⚠
p.Glu208Lys Single submitter Cardiovascular phenotype ⚠
p.Glu243Lys Single submitter Cardiovascular phenotype ⚠
p.Glu254Asp Single submitter Cardiovascular phenotype ⚠
p.Glu316Gln Single submitter Cardiovascular phenotype ⚠
p.Glu316Lys Single submitter Cardiovascular phenotype ⚠
p.Glu344Lys Single submitter Cardiovascular phenotype ⚠
p.Glu349Lys Single submitter Cardiovascular phenotype ⚠
p.Glu513Ala Single submitter Cardiovascular phenotype ⚠
p.Glu513Gly Single submitter Cardiovascular phenotype ⚠
p.Glu62Lys Single submitter Cardiovascular phenotype ⚠
p.Glu69Asp Single submitter Cardiovascular phenotype ⚠
p.Glu69Lys Single submitter ⚠
p.Gly169Val Single submitter Cardiovascular phenotype ⚠
p.Gly195= Single submitter Holt-Oram syndrome
p.Gly238Ser Single submitter ⚠
p.Gly288Arg Single submitter aortic valve disease 2
p.Gly299Arg Single submitter aortic valve disease 2 ⚠
p.Gly299Asp Single submitter aortic valve disease 2 ⚠
p.Gly33Trp Single submitter Cardiovascular phenotype ⚠
p.Gly433Arg Single submitter Cardiovascular phenotype ⚠
p.Gly441Asp Single submitter aortic valve disease 2 ⚠
p.Gly441Ser Single submitter Cardiovascular phenotype ⚠
p.Gly451Arg Single submitter Cardiovascular phenotype ⚠
p.Gly453Arg Single submitter aortic valve disease 2 ⚠
p.Gly480Val Single submitter Cardiovascular phenotype ⚠
p.Gly507Glu Single submitter Cardiovascular phenotype
p.Gly509Asp Single submitter Cardiovascular phenotype
p.Gly53Arg Single submitter Cardiovascular phenotype ⚠
p.Gly7Arg Single submitter Cardiovascular phenotype ⚠
p.Gly93Asp Single submitter ⚠
p.Gly93Ser Single submitter Holt-Oram syndrome ⚠
p.Gly93Val Single submitter aortic valve disease 2 ⚠
p.Gly9Arg Single submitter Cardiovascular phenotype ⚠
p.Gly9Asp Single submitter aortic valve disease 2 ⚠
p.Gly9Val Single submitter aortic valve disease 2 ⚠
p.His177Tyr Single submitter aortic valve disease 2 ⚠
p.His204Asn Single submitter Cardiovascular phenotype ⚠
p.His204Gln Single submitter Cardiovascular phenotype ⚠
p.His271Asn Single submitter Cardiovascular phenotype ⚠
p.His322Arg Single submitter aortic valve disease 2 ⚠
p.His463Pro Single submitter Cardiovascular phenotype ⚠
p.His503Tyr Single submitter ⚠
p.His59Arg Single submitter Cardiovascular phenotype ⚠
p.His68Gln Single submitter aortic valve disease 2 ⚠
p.Ile171Thr Single submitter Cardiovascular phenotype ⚠
p.Ile212Arg Single submitter Cardiovascular phenotype ⚠
p.Ile212Thr Single submitter Cardiovascular phenotype ⚠
p.Ile212Val Single submitter Holt-Oram syndrome
p.Ile396Met Single submitter aortic valve disease 2 ⚠
p.Ile396Val Single submitter ⚠
p.Leu102Ile Single submitter Cardiovascular phenotype
p.Leu10Arg Single submitter aortic valve disease 2 ⚠
p.Leu152Pro Single submitter Cardiovascular phenotype ⚠
p.Leu152Val Single submitter Holt-Oram syndrome
p.Leu158Phe Single submitter Cardiovascular phenotype ⚠
p.Leu183Ser Single submitter Cardiovascular phenotype ⚠
p.Leu244Pro Single submitter aortic valve disease 2 ⚠
p.Leu287Met Single submitter Cardiovascular phenotype ⚠
p.Leu313Pro Single submitter aortic valve disease 2 ⚠
p.Leu313Val Single submitter aortic valve disease 2 ⚠
p.Leu497Pro Single submitter Cardiovascular phenotype ⚠
p.Leu63Arg Single submitter aortic valve disease 2 ⚠
p.Leu65Pro Single submitter ⚠
p.Lys115Glu Single submitter Cardiovascular phenotype ⚠
p.Lys157Glu Single submitter ⚠
p.Lys159Thr Single submitter aortic valve disease 2 ⚠
p.Lys327Arg Single submitter aortic valve disease 2 ⚠
p.Lys340Glu Single submitter Cardiovascular phenotype ⚠
p.Lys340Thr Single submitter Cardiovascular phenotype
p.Lys66Ile Single submitter Cardiovascular phenotype ⚠
p.Lys90Arg Single submitter Cardiovascular phenotype ⚠
p.Lys90Gln Single submitter Holt-Oram syndrome ⚠
p.Lys97Glu Single submitter Cardiovascular phenotype ⚠
p.Lys99Glu Single submitter ⚠
p.Met104Leu Single submitter aortic valve disease 2
p.Met104Lys Single submitter ⚠
p.Met1Thr Single submitter
p.Met242Val Single submitter Cardiovascular phenotype ⚠
p.Met343Val Single submitter aortic valve disease 2 ⚠
p.Met404Leu Single submitter aortic valve disease 2 ⚠
p.Met418Val Single submitter Cardiovascular phenotype ⚠
p.Met442Ile Single submitter Cardiovascular phenotype ⚠
p.Met454Thr Single submitter Cardiovascular phenotype ⚠
p.Met51Thr Single submitter Cardiovascular phenotype ⚠
p.Met74Thr Single submitter Cardiovascular phenotype ⚠
p.Met83Arg Single submitter Holt-Oram syndrome ⚠
p.Met83Ile Single submitter aortic valve disease 2 ⚠
p.Phe155Leu Single submitter ⚠
p.Phe155Ser Single submitter Holt-Oram syndrome ⚠
p.Phe211Leu Single submitter ⚠
p.Phe8Ser Single submitter Cardiovascular phenotype ⚠
p.Pro108Ala Single submitter Cardiovascular phenotype ⚠
p.Pro108Ser Single submitter aortic valve disease 2 ⚠
p.Pro129Leu Single submitter Cardiovascular phenotype ⚠
p.Pro139Thr Single submitter ⚠
p.Pro142Ser Single submitter Cardiovascular phenotype ⚠
p.Pro17Ser Single submitter Cardiovascular phenotype ⚠
p.Pro231Thr Single submitter Cardiovascular phenotype ⚠
p.Pro273Ser Single submitter Cardiovascular phenotype ⚠
p.Pro300Ser Single submitter Cardiovascular phenotype ⚠
p.Pro308His Single submitter aortic valve disease 2 ⚠
p.Pro310Leu Single submitter Cardiovascular phenotype ⚠
p.Pro314Ser Single submitter Cardiovascular phenotype ⚠
p.Pro347Ser Single submitter aortic valve disease 2 ⚠
p.Pro347Thr Single submitter Cardiovascular phenotype ⚠
p.Pro359Leu Single submitter Cardiovascular phenotype ⚠
p.Pro385Ser Single submitter Cardiovascular phenotype ⚠
p.Pro389Ala Single submitter ⚠
p.Pro389His Single submitter aortic valve disease 2 ⚠
p.Pro402Leu Single submitter Cardiovascular phenotype ⚠
p.Pro434Thr Single submitter Cardiovascular phenotype ⚠
p.Pro448Leu Single submitter aortic valve disease 2 ⚠
p.Pro484Leu Single submitter Holt-Oram syndrome ⚠
p.Pro484Ser Single submitter aortic valve disease 2 ⚠
p.Pro485fs Single submitter
p.Pro485Leu Single submitter Cardiovascular phenotype ⚠
p.Pro499Ala Single submitter Cardiovascular phenotype ⚠
p.Ser141Tyr Single submitter aortic valve disease 2 ⚠
p.Ser252Cys Single submitter Cardiovascular phenotype ⚠
p.Ser261Asn Single submitter aortic valve disease 2
p.Ser275Asn Single submitter Cardiovascular phenotype ⚠
p.Ser278Phe Single submitter Cardiovascular phenotype ⚠