CTNNB1 — 855 ClinVar variants
All ClinVar germline CTNNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 303 flagged for review →
151 Pathogenic · 8 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 15 Conflicting · 23 Benign · 10 Benign/Likely benign · 281 Likely benign · 312 Uncertain significance
Full CTNNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 303
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CTNNB1 p.Glu692Asp
Likely pathogenic
Single submitter
CTNNB1-related disorder
-
CTNNB1 p.Gly730Asp
Likely pathogenic
No assertion criteria
autosomal dominant polycystic liver disease
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CTNNB1 p.Ala728Pro Conflicting Single submitter
- CTNNB1 p.Arg151His Conflicting Single submitter
-
CTNNB1 p.Arg469Cys
Conflicting
Single submitter
CTNNB1-related syndromic intellectual disability
-
CTNNB1 p.Asn772Ser
Conflicting
Single submitter
Inborn genetic diseases
- CTNNB1 p.Gly752Ala Conflicting Single submitter
- CTNNB1 p.Ile82Thr Conflicting Single submitter
- CTNNB1 p.Ser681Phe Conflicting Single submitter
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 199
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 199
-
CTNNB1 p.Ala509Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTNNB1 p.Ala525Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CTNNB1 p.Arg200Leu Uncertain significance Multiple submitters
-
CTNNB1 p.Arg376Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTNNB1 p.Arg469His
Uncertain significance
Multiple submitters
CTNNB1-related disorder
-
CTNNB1 p.Arg486His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CTNNB1 p.Arg542Cys Uncertain significance Multiple submitters
-
CTNNB1 p.Arg661Pro
Uncertain significance
Multiple submitters
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Arg710His Uncertain significance Multiple submitters
- CTNNB1 p.Asn51Ser Uncertain significance Multiple submitters
- CTNNB1 p.Gln28His Uncertain significance Multiple submitters
- CTNNB1 p.Gly361Asp Uncertain significance Multiple submitters
- CTNNB1 p.Ile465Val Uncertain significance Multiple submitters
-
CTNNB1 p.Ile82Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CTNNB1 p.Leu259Phe Uncertain significance Multiple submitters
- CTNNB1 p.Leu762Pro Uncertain significance Multiple submitters
- CTNNB1 p.Met14Val Uncertain significance Multiple submitters
- CTNNB1 p.Met688Val Uncertain significance Multiple submitters
-
CTNNB1 p.Pro714Ser
Uncertain significance
Multiple submitters
exudative vitreoretinopathy 7
-
CTNNB1 p.Ser111Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTNNB1 p.Thr205Ile
Uncertain significance
Multiple submitters
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Thr510Ala Uncertain significance Multiple submitters
-
CTNNB1 p.Tyr306Phe
Uncertain significance
Multiple submitters
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Ala116Val Uncertain significance Single submitter
- CTNNB1 p.Ala117Thr Uncertain significance Single submitter
- CTNNB1 p.Ala135Gly Uncertain significance Single submitter
- CTNNB1 p.Ala13Val Uncertain significance Single submitter
- CTNNB1 p.Ala187Gly Uncertain significance Single submitter
- CTNNB1 p.Ala187Thr Uncertain significance Single submitter
- CTNNB1 p.Ala2Ser Uncertain significance Single submitter
-
CTNNB1 p.Ala360Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Ala39Thr Uncertain significance Single submitter
- CTNNB1 p.Ala420Thr Uncertain significance Single submitter
- CTNNB1 p.Ala5Gly Uncertain significance Single submitter
- CTNNB1 p.Ala622Thr Uncertain significance Single submitter
- CTNNB1 p.Ala636Pro Uncertain significance Single submitter
-
CTNNB1 p.Ala652Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Ala652Val Uncertain significance Single submitter
- CTNNB1 p.Ala655Glu Uncertain significance Single submitter
- CTNNB1 p.Ala655Val Uncertain significance Single submitter
- CTNNB1 p.Ala702Pro Uncertain significance Single submitter
- CTNNB1 p.Ala702Val Uncertain significance Single submitter
- CTNNB1 p.Ala759Gly Uncertain significance Single submitter
- CTNNB1 p.Ala775Ser Uncertain significance Single submitter
- CTNNB1 p.Ala80Pro Uncertain significance Single submitter
- CTNNB1 p.Arg124Cys Uncertain significance Single submitter
- CTNNB1 p.Arg124Gly Uncertain significance Single submitter
- CTNNB1 p.Arg124Pro Uncertain significance Single submitter
- CTNNB1 p.Arg151Cys Uncertain significance Single submitter
- CTNNB1 p.Arg190Cys Uncertain significance Single submitter
- CTNNB1 p.Arg190His Uncertain significance Single submitter
- CTNNB1 p.Arg200Cys Uncertain significance Single submitter
-
CTNNB1 p.Arg200His
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Arg212Cys Uncertain significance Single submitter
- CTNNB1 p.Arg225Cys Uncertain significance Single submitter
- CTNNB1 p.Arg274Cys Uncertain significance Single submitter
- CTNNB1 p.Arg453Trp Uncertain significance Single submitter
-
CTNNB1 p.Arg486Cys
Uncertain significance
Single submitter
autosomal dominant polycystic liver disease
- CTNNB1 p.Arg486Ser Uncertain significance Single submitter
- CTNNB1 p.Arg528Cys Uncertain significance Single submitter
- CTNNB1 p.Arg528Pro Uncertain significance Single submitter
- CTNNB1 p.Arg549Cys Uncertain significance Single submitter
- CTNNB1 p.Arg550His Uncertain significance Single submitter
- CTNNB1 p.Arg565Cys Uncertain significance Single submitter
- CTNNB1 p.Arg565His Uncertain significance Single submitter
- CTNNB1 p.Arg587Gln Uncertain significance Single submitter
- CTNNB1 p.Arg661Gln Uncertain significance Single submitter
- CTNNB1 p.Asn121Thr Uncertain significance Single submitter
- CTNNB1 p.Asn161Ser Uncertain significance Single submitter
- CTNNB1 p.Asn206Ser Uncertain significance Single submitter
- CTNNB1 p.Asn426Asp Uncertain significance Single submitter
- CTNNB1 p.Asn483Ile Uncertain significance Single submitter
- CTNNB1 p.Asn586Asp Uncertain significance Single submitter
- CTNNB1 p.Asn648Ser Uncertain significance Single submitter
- CTNNB1 p.Asp144Gly Uncertain significance Single submitter
- CTNNB1 p.Asp144His Uncertain significance Single submitter
- CTNNB1 p.Asp372Glu Uncertain significance Single submitter
-
CTNNB1 p.Asp412Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Asp412Gly Uncertain significance Single submitter
- CTNNB1 p.Asp56Ala Uncertain significance Single submitter
- CTNNB1 p.Asp583Val Uncertain significance Single submitter
-
CTNNB1 p.Asp727Glu
Uncertain significance
Single submitter
exudative vitreoretinopathy 7
- CTNNB1 p.Asp732Ala Uncertain significance Single submitter
- CTNNB1 p.Asp764Glu Uncertain significance Single submitter
-
CTNNB1 p.Cys419Arg
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Gln165Glu Uncertain significance Single submitter
- CTNNB1 p.Gln280Arg Uncertain significance Single submitter
- CTNNB1 p.Gln379Arg Uncertain significance Single submitter
- CTNNB1 p.Gln407His Uncertain significance Single submitter
- CTNNB1 p.Gln545Arg Uncertain significance Single submitter
- CTNNB1 p.Gln601His Uncertain significance Single submitter
- CTNNB1 p.Gln68Pro Uncertain significance Single submitter
- CTNNB1 p.Gln703Pro Uncertain significance Single submitter
- CTNNB1 p.Gln711Glu Uncertain significance Single submitter
- CTNNB1 p.Gln76Glu Uncertain significance Single submitter
- CTNNB1 p.Gln85His Uncertain significance Single submitter
- CTNNB1 p.Glu163Asp Uncertain significance Single submitter
- CTNNB1 p.Glu182Lys Uncertain significance Single submitter
- CTNNB1 p.Glu209Gly Uncertain significance Single submitter
-
CTNNB1 p.Glu310Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Glu396Asp Uncertain significance Single submitter
-
CTNNB1 p.Glu529Lys
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Glu55Asp Uncertain significance Single submitter
- CTNNB1 p.Glu9Asp Uncertain significance Single submitter
- CTNNB1 p.Gly245Ser Uncertain significance Single submitter
-
CTNNB1 p.Gly277Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Gly361Val Uncertain significance Single submitter
-
CTNNB1 p.Gly397Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
- CTNNB1 p.Gly455Ser Uncertain significance Single submitter
- CTNNB1 p.Gly575Ala Uncertain significance Single submitter
- CTNNB1 p.Gly725Ser Uncertain significance Single submitter
- CTNNB1 p.Gly740Asp Uncertain significance Single submitter
- CTNNB1 p.Gly765Arg Uncertain significance Single submitter
-
CTNNB1 p.Gly769Val
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.His24Leu Uncertain significance Single submitter
-
CTNNB1 p.His260Tyr
Uncertain significance
Single submitter
congenital heart disease
- CTNNB1 p.His475Tyr Uncertain significance Single submitter
- CTNNB1 p.His737Arg Uncertain significance Single submitter
- CTNNB1 p.Ile198Leu Uncertain significance Single submitter
- CTNNB1 p.Ile198Val Uncertain significance Single submitter
- CTNNB1 p.Ile256Thr Uncertain significance Single submitter
- CTNNB1 p.Ile256Val Uncertain significance Single submitter
-
CTNNB1 p.Ile588Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Ile590Thr Uncertain significance Single submitter
- CTNNB1 p.Ile607Thr Uncertain significance Single submitter
- CTNNB1 p.Ile607Val Uncertain significance Single submitter
- CTNNB1 p.Ile700Leu Uncertain significance Single submitter
-
CTNNB1 p.Ile700Thr
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Ile700Val Uncertain significance Single submitter
- CTNNB1 p.Leu218Ser Uncertain significance Single submitter
- CTNNB1 p.Leu228Phe Uncertain significance Single submitter
- CTNNB1 p.Leu240Val Uncertain significance Single submitter
-
CTNNB1 p.Leu304Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Leu313Phe Uncertain significance Single submitter
-
CTNNB1 p.Leu324Ser
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Leu324Val Uncertain significance Single submitter
-
CTNNB1 p.Leu388Pro
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Leu447Phe Uncertain significance Single submitter
- CTNNB1 p.Leu540Pro Uncertain significance Single submitter
- CTNNB1 p.Leu644Pro Uncertain significance Single submitter
- CTNNB1 p.Leu682Pro Uncertain significance Single submitter
-
CTNNB1 p.Leu696Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Leu762Phe Uncertain significance Single submitter
- CTNNB1 p.Leu7Phe Uncertain significance Single submitter
- CTNNB1 p.Lys233Arg Uncertain significance Single submitter
- CTNNB1 p.Lys281Arg Uncertain significance Single submitter
- CTNNB1 p.Lys625Arg Uncertain significance Single submitter
- CTNNB1 p.Met107Thr Uncertain significance Single submitter
- CTNNB1 p.Met12Val Uncertain significance Single submitter
- CTNNB1 p.Met14Thr Uncertain significance Single submitter
Predictors split 93
The independent predictors disagree with each other — read with care.
-
CTNNB1 p.Ala20Val
Uncertain significance
Multiple submitters
CTNNB1-related disorder
-
CTNNB1 p.Ala215Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CTNNB1 p.Ala2Gly Uncertain significance Multiple submitters
- CTNNB1 p.Gln113Arg Uncertain significance Multiple submitters
-
CTNNB1 p.Gln322Arg
Uncertain significance
Multiple submitters
CTNNB1-related disorder
- CTNNB1 p.Gly268Glu Uncertain significance Multiple submitters
-
CTNNB1 p.His524Arg
Uncertain significance
Multiple submitters
hepatocellular carcinoma
- CTNNB1 p.His544Tyr Uncertain significance Multiple submitters
- CTNNB1 p.Ile315Val Uncertain significance Multiple submitters
- CTNNB1 p.Leu487Phe Uncertain significance Multiple submitters
- CTNNB1 p.Met566Thr Uncertain significance Multiple submitters
- CTNNB1 p.Phe683Ser Uncertain significance Multiple submitters
-
CTNNB1 p.Ser60Cys
Uncertain significance
Multiple submitters
CTNNB1-related disorder
-
CTNNB1 p.Thr41Ala
Likely pathogenic
Multiple submitters
exudative vitreoretinopathy 7
-
CTNNB1 p.Val416Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CTNNB1 p.Ala172Thr Uncertain significance Single submitter
- CTNNB1 p.Ala215Thr Conflicting Single submitter
- CTNNB1 p.Ala215Val Uncertain significance Single submitter
- CTNNB1 p.Ala21Thr Uncertain significance Single submitter
- CTNNB1 p.Ala239Ser Uncertain significance Single submitter
- CTNNB1 p.Ala464Thr Uncertain significance Single submitter
- CTNNB1 p.Ala522Thr Conflicting Single submitter
- CTNNB1 p.Ala532Thr Uncertain significance Single submitter
- CTNNB1 p.Ala630Ser Uncertain significance Single submitter
- CTNNB1 p.Arg550Cys Uncertain significance Single submitter
-
CTNNB1 p.Arg710Cys
Uncertain significance
Single submitter
exudative vitreoretinopathy 1
- CTNNB1 p.Arg95Gln Uncertain significance Single submitter
- CTNNB1 p.Asn138Asp Uncertain significance Single submitter
- CTNNB1 p.Asn204Asp Uncertain significance Single submitter
- CTNNB1 p.Asn204Ile Uncertain significance Single submitter
- CTNNB1 p.Asn483Ser Uncertain significance Single submitter
-
CTNNB1 p.Asp665Glu
Uncertain significance
Single submitter
severe intellectual disability-progressive spastic diplegia syndrome
- CTNNB1 p.Asp755Asn Uncertain significance Single submitter
- CTNNB1 p.Asp755His Uncertain significance Single submitter
-
CTNNB1 p.Gln143Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Gln26Arg Uncertain significance Single submitter
- CTNNB1 p.Glu642Gln Uncertain significance Single submitter
- CTNNB1 p.Gly442Ala Uncertain significance Single submitter
- CTNNB1 p.Gly592Arg Uncertain significance Single submitter
- CTNNB1 p.His134Asp Uncertain significance Single submitter
-
CTNNB1 p.His224Gln
Likely benign
Single submitter
exudative vitreoretinopathy 7
-
CTNNB1 p.His36Pro
Likely pathogenic
Single submitter
Desmoid disease, hereditary
- CTNNB1 p.His499Tyr Uncertain significance Single submitter
- CTNNB1 p.His645Arg Uncertain significance Single submitter
- CTNNB1 p.Ile357Val Uncertain significance Single submitter
- CTNNB1 p.Ile533Val Uncertain significance Single submitter
- CTNNB1 p.Ile590Val Uncertain significance Single submitter
- CTNNB1 p.Ile596Val Uncertain significance Single submitter
- CTNNB1 p.Leu148Val Uncertain significance Single submitter
-
CTNNB1 p.Leu304Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CTNNB1 p.Leu377Ile Uncertain significance Single submitter
- CTNNB1 p.Leu491Ile Uncertain significance Single submitter
- CTNNB1 p.Leu491Val Uncertain significance Single submitter
- CTNNB1 p.Leu593Ile Uncertain significance Single submitter
- CTNNB1 p.Leu621Ile Uncertain significance Single submitter
- CTNNB1 p.Leu698Phe Uncertain significance Single submitter
- CTNNB1 p.Leu766Val Uncertain significance Single submitter
- CTNNB1 p.Lys180Arg Uncertain significance Single submitter
- CTNNB1 p.Lys181Asn Uncertain significance Single submitter
-
CTNNB1 p.Lys292Asn
Uncertain significance
Single submitter
osteosclerosis
- CTNNB1 p.Lys671Glu Uncertain significance Single submitter
- CTNNB1 p.Met328Val Uncertain significance Single submitter
- CTNNB1 p.Met731Val Uncertain significance Single submitter
- CTNNB1 p.Met734Thr Uncertain significance Single submitter
- CTNNB1 p.Met739Ile Uncertain significance Single submitter
- CTNNB1 p.Met763Ile Uncertain significance Single submitter
- CTNNB1 p.Met8Ile Uncertain significance Single submitter
- CTNNB1 p.Met98Ile Uncertain significance Single submitter
- CTNNB1 p.Met98Val Uncertain significance Single submitter
- CTNNB1 p.Phe232Leu Uncertain significance Single submitter
- CTNNB1 p.Pro192Ser Uncertain significance Single submitter
- CTNNB1 p.Pro526Leu Uncertain significance Single submitter
- CTNNB1 p.Pro526Ser Uncertain significance Single submitter
- CTNNB1 p.Pro606Leu Uncertain significance Single submitter
- CTNNB1 p.Pro714Arg Uncertain significance Single submitter
- CTNNB1 p.Pro767Leu Uncertain significance Single submitter
- CTNNB1 p.Ser179Ala Uncertain significance Single submitter
- CTNNB1 p.Ser29Cys Uncertain significance Single submitter
- CTNNB1 p.Thr214Ala Uncertain significance Single submitter
- CTNNB1 p.Thr258Ser Uncertain significance Single submitter
- CTNNB1 p.Thr332Ala Uncertain significance Single submitter
- CTNNB1 p.Thr371Ile Uncertain significance Single submitter
- CTNNB1 p.Thr42Arg Uncertain significance Single submitter
-
CTNNB1 p.Thr42Ile
Conflicting
Single submitter
Inborn genetic diseases
- CTNNB1 p.Thr75Ile Uncertain significance Single submitter
- CTNNB1 p.Tyr254Cys Uncertain significance Single submitter
- CTNNB1 p.Tyr432Cys Uncertain significance Single submitter
- CTNNB1 p.Tyr716Cys Uncertain significance Single submitter
- CTNNB1 p.Tyr748Cys Uncertain significance Single submitter
-
CTNNB1 p.Val195Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CTNNB1 p.Asp32Gly
Pathogenic/Likely pathogenic
No assertion criteria
pilomatrixoma
-
CTNNB1 p.Glu15Lys
Uncertain significance
No assertion criteria
severe intellectual disability-progressive spastic diplegia syndrome
-
CTNNB1 p.Ser45Pro
Pathogenic/Likely pathogenic
No assertion criteria
hepatocellular carcinoma
All CTNNB1 variants
Pathogenic 151
- c.1081+1G>T Multiple submitters colorectal cancer
- c.1082-1G>C Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- c.735-1G>C Multiple submitters colorectal cancer
- p.Arg515Ter Multiple submitters hepatocellular carcinoma
- p.Arg535Ter Multiple submitters exudative vitreoretinopathy 7
- p.Arg661fs Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Arg95Ter Multiple submitters CTNNB1-related disorder
- p.Asp695fs Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln113Ter Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln395Ter Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln530Ter Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln623Ter Multiple submitters
- p.Gln92Ter Multiple submitters
- p.His499fs Multiple submitters hepatocellular carcinoma
- p.Ile140fs Multiple submitters
- p.Leu385fs Multiple submitters
- p.Met271fs Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr289fs Multiple submitters CTNNB1-related disorder
- p.Tyr333Ter Multiple submitters CTNNB1-related disorder
- p.Tyr654Ter Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Val349fs Multiple submitters hepatocellular carcinoma
- c.1081+1G>A Single submitter Inborn genetic diseases
- c.1081+1G>C Single submitter
- c.1082-2A>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1683+1G>A Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1683+1G>C Single submitter
- c.2076+1G>A Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.2076+2T>C Single submitter
- c.242-1G>T Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.242-2A>G Single submitter
- c.242-3C>A Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.495+1G>C Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.735-1G>A Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.937-2A>G Single submitter
- p.Ala269fs Single submitter Inborn genetic diseases
- p.Ala421fs Single submitter
- p.Ala615Ter Single submitter
- p.Ala622fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Ala657fs Single submitter
- p.Ala96fs Single submitter
- p.Arg185fs Single submitter intellectual disability
- p.Arg185Ter Single submitter
- p.Asn380fs Single submitter
- p.Asn387fs Single submitter Inborn genetic diseases
- p.Asn434fs Single submitter
- p.Asp32Asn Single submitter juvenile nasopharyngeal angiofibroma
- p.Asp624fs Single submitter Inborn genetic diseases
- p.Asp669fs Single submitter
- p.Asp713fs Single submitter
- p.Cys381fs Single submitter
- p.Gln123fs Single submitter
- p.Gln123Ter Single submitter
- p.Gln165fs Single submitter
- p.Gln177Ter Single submitter Inborn genetic diseases
- p.Gln266Ter Single submitter Inborn genetic diseases
- p.Gln309fs Single submitter
- p.Gln364Ter Single submitter
- p.Gln379Ter Single submitter Inborn genetic diseases
- p.Gln482Ter Single submitter
- p.Gln538Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln548Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln601Ter Single submitter
- p.Gln61Ter Single submitter
- p.Gln72fs Single submitter
- p.Gln85fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu310Ter Single submitter
- p.Glu334fs Single submitter CTNNB1-related disorder
- p.Glu54Ter Single submitter
- p.Glu55Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu620fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu634Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu642fs Single submitter
- p.Glu642Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu705fs Single submitter
- p.Gly319fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Ile315fs Single submitter intellectual disability
- p.Ile590fs Single submitter intellectual disability
- p.Ile610fs Single submitter exudative vitreoretinopathy 7
- p.Leu244fs Single submitter
- p.Leu259fs Single submitter
- p.Leu263fs Single submitter
- p.Leu263Ter Single submitter Inborn genetic diseases
- p.Leu264fs Single submitter
- p.Leu366Ter Single submitter CTNNB1-related disorder
- p.Leu424_Ser425insTer Single submitter
- p.Leu452fs Single submitter
- p.Leu527Ter Single submitter
- p.Leu659fs Single submitter
- p.Leu707fs Single submitter
- p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Lys181fs Single submitter
- p.Lys270Ter Single submitter
- p.Lys281Ter Single submitter
- p.Lys345Ter Single submitter
- p.Lys433Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Lys496fs Single submitter Neurodevelopmental delay
- p.Lys496Ter Single submitter
- p.Lys625Ter Single submitter
- p.Met189fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Met328fs Single submitter
- p.Phe232fs Single submitter
- p.Phe293fs Single submitter
- p.Pro100fs Single submitter
- p.Pro321fs Single submitter
- p.Pro501fs Single submitter CTNNB1-related disorder
- p.Pro526fs Single submitter Inborn genetic diseases
- p.Pro597fs Single submitter
- p.Pro706fs Single submitter
- p.Pro714fs Single submitter
- p.Ser23fs Single submitter
- p.Ser348fs Single submitter
- p.Ser45fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Ser715fs Single submitter
- p.Ser71fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr102_Leu103insTer Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr157fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr217fs Single submitter
- p.Thr332_Tyr333insTer Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr428fs Single submitter
- p.Thr510fs Single submitter
- p.Thr595fs Single submitter Inborn genetic diseases
- p.Trp338Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Trp504fs Single submitter
- p.Trp504Ter Single submitter
- p.Trp66Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Trp690Ter Single submitter
- p.Tyr254Ter Single submitter
- p.Tyr604fs Single submitter intellectual disability
- p.Tyr654fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Tyr670fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Tyr709fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Val451fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Val493fs Single submitter
- p.Val570Ter Single submitter
- p.Val613fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Val617fs Single submitter Inborn genetic diseases
- c.1683+1del No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- c.735-22_747del No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Ala636fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln28fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln309Ter No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu479fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gly216Arg No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gly236fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gly34Arg No assertion criteria urinary bladder cancer
- p.Gly708fs No assertion criteria CTNNB1-related disorder
- p.His720Ter No assertion criteria exudative vitreoretinopathy 7
- p.Ile569fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Ser33Tyr No assertion criteria pilomatrixoma
- p.Ser37Phe No assertion criteria pilomatrixoma
- p.Ser425fs No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
Pathogenic/Likely pathogenic 8
- p.Arg587Ter Multiple submitters Inborn genetic diseases
- p.Arg661Ter Multiple submitters Inborn genetic diseases
- p.Gly575Arg Multiple submitters CTNNB1-related disorder
- p.Lys233Ter Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Met437fs Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome
- p.Asp32Gly No assertion criteria pilomatrixoma ⚠
- p.Ser37Cys No assertion criteria ovarian neoplasm
- p.Ser45Pro No assertion criteria hepatocellular carcinoma ⚠
Likely pathogenic 55
- p.Leu382Pro Multiple submitters Inborn genetic diseases
- p.Thr41Ala Multiple submitters exudative vitreoretinopathy 7 ⚠
- c.1081+2T>G Single submitter
- c.1082-1G>A Single submitter exudative vitreoretinopathy 7
- c.1186-1G>A Single submitter
- c.1186-3T>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1524_1524+5del Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1524+1G>T Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1525-2A>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1803+2T>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1954+1G>A Single submitter CTNNB1-related disorder
- c.241+1del Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.242-5T>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.496-2A>G Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.496-3C>G Single submitter
- c.936+1G>T Single submitter
- p.Ala481fs Single submitter
- p.Ala694fs Single submitter
- p.Asn308fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Asn380Ile Single submitter Inborn genetic diseases
- p.Asn691fs Single submitter Inborn genetic diseases
- p.Cys429Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Cys439fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Cys619_Glu620delinsTer Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln440Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln476Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Glu626Ter Single submitter microcephaly
- p.Glu692Asp Single submitter CTNNB1-related disorder ⚠
- p.Glu736fs Single submitter Neurodevelopmental abnormality
- p.Gly235Arg Single submitter
- p.Gly34Val Single submitter colorectal cancer
- p.His36Pro Single submitter Desmoid disease, hereditary ⚠
- p.His758fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Leu125Ter Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Leu218Ter Single submitter
- p.Leu385Arg Single submitter
- p.Leu517_Asn523del Single submitter
- p.Leu598fs Single submitter congenital nervous system disorder
- p.Met243fs Single submitter CTNNB1-related disorder
- p.Pro373fs Single submitter CTNNB1-related syndromic intellectual disability
- p.Ser348Phe Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr339_Arg342delinsIle Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr393_Lys394insTer Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- p.Thr393Ala Single submitter
- p.Thr41Ile Single submitter Desmoid disease, hereditary
- p.Tyr30_Ser37del Single submitter juvenile nasopharyngeal angiofibroma
- p.Tyr432_Lys433delinsTer Single submitter colorectal cancer
- p.Val511fs Single submitter hepatocellular carcinoma
- p.Val564fs Single submitter severe intellectual disability-progressive spastic diplegia syndrome
- c.1_1081del No assertion criteria severe intellectual disability-progressive spastic diplegia syndrome
- p.Gln482Glu No assertion criteria colorectal cancer
- p.Glu571Lys No assertion criteria
- p.Gly38fs No assertion criteria CTNNB1-related disorder
- p.Gly730Asp No assertion criteria autosomal dominant polycystic liver disease ⚠
- p.Val406fs No assertion criteria CTNNB1-related disorder
Conflicting classifications of pathogenicity 15
- c.2138-1G>C Single submitter ⚠
- c.937-22AT[3] Single submitter
- p.Ala215Thr Single submitter ⚠
- p.Ala522Thr Single submitter ⚠
- p.Ala728Pro Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg469Cys Single submitter CTNNB1-related syndromic intellectual disability ⚠
- p.Asn772Ser Single submitter Inborn genetic diseases ⚠
- p.Gln440= Single submitter
- p.Gly752Ala Single submitter ⚠
- p.Ile82Thr Single submitter ⚠
- p.Ser681Phe Single submitter ⚠
- p.Thr42Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr748Ter Single submitter ⚠
- p.Val195Leu Single submitter Inborn genetic diseases ⚠
Benign 23
- c.1082-17C>G Multiple submitters
- c.1082-68C>A Multiple submitters
- c.1684-175C>T Multiple submitters
- c.2077-67A>G Multiple submitters
- c.*555T>G Multiple submitters
- p.Asp780= Multiple submitters
- p.Glu686= Multiple submitters
- p.Ile140= Multiple submitters
- p.Leu506= Multiple submitters
- p.Leu643= Multiple submitters
- p.Thr214= Multiple submitters
- p.Thr551= Multiple submitters
- c.1081+309A>T Single submitter
- c.1683+11del Single submitter
- c.1803+9dup Single submitter
- c.1954+11dup Single submitter
- c.2137+466A>G Single submitter
- c.242-5del Single submitter
- c.735-20G>A Single submitter
- c.936+12A>G Single submitter
- c.936+15C>G Single submitter
- c.936+173A>G Single submitter
- p.Thr595= Single submitter
Benign/Likely benign 10
- c.14-4A>G Multiple submitters medulloblastoma
- c.1683+17A>G Multiple submitters medulloblastoma
- p.Ala211= Multiple submitters
- p.Ala464= Multiple submitters
- p.Arg661= Multiple submitters
- p.Asn287Ser Multiple submitters Inborn genetic diseases
- p.Ile610= Multiple submitters
- p.Leu424= Multiple submitters
- p.Leu774= Multiple submitters exudative vitreoretinopathy 7
- p.Ser341= Multiple submitters
Likely benign 281
- c.1803+8T>C Multiple submitters
- c.1804-4T>C Multiple submitters
- c.496-7A>T Multiple submitters
- c.735-13TTC[2] Multiple submitters
- c.937-26_937-14del Multiple submitters
- p.Arg717His Multiple submitters
- p.Asn161= Multiple submitters
- p.Asn204= Multiple submitters
- p.Asp695= Multiple submitters
- p.Leu427= Multiple submitters
- p.Leu487= Multiple submitters
- p.Leu682= Multiple submitters
- p.Ser675= Multiple submitters
- p.Thr297= Multiple submitters
- p.Thr384= Multiple submitters
- c.1081+11G>A Single submitter
- c.1081+13A>G Single submitter
- c.1081+13A>T Single submitter
- c.1081+16_1081+19del Single submitter
- c.1081+20C>A Single submitter
- c.1081+287_1081+288del Single submitter
- c.1081+7A>G Single submitter
- c.1081+8dup Single submitter
- c.1081+8T>C Single submitter
- c.1081+9A>G Single submitter
- c.1082-12T>C Single submitter
- c.1082-12T>G Single submitter
- c.1082-20T>C Single submitter
- c.1082-233C>T Single submitter
- c.1082-4C>G Single submitter
- c.1185+10G>A Single submitter
- c.1185+12G>A Single submitter
- c.1185+17C>G Single submitter
- c.1185+18dup Single submitter
- c.1185+19G>T Single submitter
- c.1186-17T>C Single submitter
- c.1186-18C>G Single submitter
- c.1186-20A>G Single submitter
- c.1186-4A>T Single submitter
- c.1186-5C>T Single submitter
- c.1186-7T>C Single submitter
- c.1186-8C>T Single submitter
- c.13+11T>C Single submitter
- c.13+14A>G Single submitter
- c.13+19T>G Single submitter
- c.13+20T>C Single submitter
- c.14-10G>T Single submitter
- c.14-11C>T Single submitter
- c.14-16T>C Single submitter
- c.14-18A>T Single submitter
- c.14-5_14-3dup Single submitter
- c.1524+10C>A Single submitter
- c.1524+12A>C Single submitter
- c.1524+18A>C Single submitter
- c.1525-10T>C Single submitter
- c.1525-14_1525-11del Single submitter
- c.1525-14C>T Single submitter
- c.1525-17T>C Single submitter
- c.1525-9G>T Single submitter
- c.1683+11T>G Single submitter
- c.1683+12_1683+22del Single submitter
- c.1683+12C>G Single submitter
- c.1683+12C>T Single submitter
- c.1683+16C>A Single submitter
- c.1683+16C>T Single submitter
- c.1683+16del Single submitter
- c.1683+216A>G Single submitter
- c.1683+256G>A Single submitter
- c.1684-14G>A Single submitter
- c.1684-17C>T Single submitter
- c.1684-6T>C Single submitter
- c.1803+13T>C Single submitter
- c.1803+16A>G Single submitter
- c.1803+19_1803+20del Single submitter
- c.1803+20T>G Single submitter
- c.1803+9_1803+13del Single submitter
- c.1803+9T>C Single submitter
- c.1804-14del Single submitter
- c.1804-15G>A Single submitter
- c.1954+15A>G Single submitter
- c.1954+16C>G Single submitter
- c.1954+42T>C Single submitter
- c.1955-11T>C Single submitter
- c.1955-15C>T Single submitter
- c.1955-4_1955-3del Single submitter
- c.1955-5C>G Single submitter
- c.1955-7C>T Single submitter
- c.1955-9G>A Single submitter
- c.2076+10TG[3] Single submitter
- c.2076+13G>C Single submitter
- c.2076+14_2076+15del Single submitter
- c.2076+17A>T Single submitter
- c.2076+301C>T Single submitter
- c.2076+9del Single submitter
- c.2077-12A>T Single submitter
- c.2077-17T>G Single submitter
- c.2077-4C>G Single submitter
- c.2077-4C>T Single submitter
- c.2077-9T>C Single submitter
- c.2137+12A>T Single submitter
- c.2137+15T>C Single submitter
- c.2137+15T>G Single submitter
- c.2137+20C>T Single submitter
- c.2137+7G>A Single submitter
- c.2137+9C>T Single submitter
- c.2138-11_2138-8dup Single submitter
- c.2138-14C>G Single submitter
- c.2138-17C>T Single submitter
- c.2138-21_2138-16del Single submitter
- c.2138-5del Single submitter
- c.2138-5T>G Single submitter
- c.2138-6T>C Single submitter
- c.2138-8T>G Single submitter
- c.241+20T>G Single submitter
- c.241+7G>A Single submitter
- c.242-17G>C Single submitter
- c.242-19T>C Single submitter
- c.242-4C>G Single submitter
- c.495+12C>T Single submitter
- c.495+16G>C Single submitter
- c.495+18T>C Single submitter
- c.495+8A>G Single submitter
- c.496-11del Single submitter
- c.496-12C>T Single submitter
- c.496-16A>G Single submitter
- c.496-20T>A Single submitter
- c.496-7A>C Single submitter
- c.496-8dup Single submitter
- c.734+11A>G Single submitter
- c.734+12T>A Single submitter
- c.734+13G>A Single submitter
- c.734+18A>C Single submitter
- c.734+8_734+9del Single submitter
- c.735-20G>T Single submitter
- c.735-5C>T Single submitter
- c.936+10T>C Single submitter
- c.936+13T>C Single submitter
- c.936+18T>C Single submitter
- c.937-10A>C Single submitter
- c.937-10A>G Single submitter
- c.937-12A>G Single submitter
- c.937-16A>G Single submitter
- c.937-19T>C Single submitter
- c.937-22AT[4] Single submitter
- c.937-22AT[5] Single submitter
- c.937-5T>C Single submitter
- c.937-6T>C Single submitter
- c.937-8C>A Single submitter
- c.-48-183T>A Single submitter
- c.-48-279C>T Single submitter
- c.-48-3del Single submitter
- p.Ala126= Single submitter
- p.Ala152= Single submitter
- p.Ala20= Single submitter
- p.Ala323= Single submitter
- p.Ala39= Single submitter
- p.Ala420= Single submitter
- p.Ala454= Single submitter
- p.Ala5= Single submitter
- p.Ala615= Single submitter
- p.Ala694= Single submitter
- p.Ala728= Single submitter
- p.Ala775= Single submitter
- p.Ala87= Single submitter
- p.Ala91= Single submitter
- p.Arg18= Single submitter
- p.Arg225= Single submitter
- p.Arg386= Single submitter
- p.Arg515= Single submitter
- p.Arg587= Single submitter
- p.Asn287= Single submitter
- p.Asn326= Single submitter
- p.Asn434= Single submitter
- p.Asn483= Single submitter
- p.Asp104= Single submitter
- p.Asp207= Single submitter
- p.Asp56= Single submitter
- p.Asp732= Single submitter
- p.Asp747= Single submitter
- p.Asp770= Single submitter
- p.Cys573= Single submitter
- p.Gln143= Single submitter
- p.Gln302= Single submitter
- p.Gln309= Single submitter
- p.Gln375= Single submitter
- p.Gln559= Single submitter
- p.Gln611= Single submitter
- p.Gln92= Single submitter
- p.Glu155= Single submitter
- p.Glu226= Single submitter
- p.Glu310= Single submitter
- p.Glu399= Single submitter
- p.Glu55= Single submitter
- p.Glu571= Single submitter
- p.Glu642= Single submitter
- p.Glu65= Single submitter
- p.Glu9= Single submitter
- p.Gly106= Single submitter
- p.Gly34= Single submitter
- p.Gly362= Single submitter
- p.Gly367= Single submitter
- p.Gly50= Single submitter
- p.Gly697= Single submitter
- p.Gly722= Single submitter
- p.Gly725= Single submitter
- p.Gly741= Single submitter
- p.His224Gln Single submitter exudative vitreoretinopathy 7 ⚠
- p.His470= Single submitter
- p.His488= Single submitter
- p.His585= Single submitter
- p.His645= Single submitter
- p.His720Pro Single submitter Inborn genetic diseases
- p.His737= Single submitter
- p.His742= Single submitter
- p.Ile231= Single submitter
- p.Ile303= Single submitter
- p.Ile314= Single submitter
- p.Ile569= Single submitter
- p.Ile631= Single submitter
- p.Leu132= Single submitter
- p.Leu139= Single submitter
- p.Leu160= Single submitter
- p.Leu229= Single submitter
- p.Leu240= Single submitter
- p.Leu286= Single submitter
- p.Leu304= Single submitter
- p.Leu316= Single submitter
- p.Leu324= Single submitter
- p.Leu347= Single submitter
- p.Leu385= Single submitter
- p.Leu497= Single submitter
- p.Leu659= Single submitter
- p.Leu729= Single submitter
- p.Leu753= Single submitter
- p.Leu756= Single submitter
- p.Leu762= Single submitter
- p.Leu766= Single submitter
- p.Leu781= Single submitter
- p.Lys335= Single submitter
- p.Lys354= Single submitter
- p.Lys433= Single submitter
- p.Lys666= Single submitter
- p.Lys671= Single submitter
- p.Phe114= Single submitter
- p.Pro247= Single submitter
- p.Pro355= Single submitter
- p.Pro521= Single submitter
- p.Pro597= Single submitter
- p.Pro667= Single submitter
- p.Pro687= Single submitter
- p.Pro706= Single submitter
- p.Pro714= Single submitter
- p.Ser318= Single submitter
- p.Ser605= Single submitter
- p.Ser680= Single submitter
- p.Thr217= Single submitter
- p.Thr330= Single submitter
- p.Thr371= Single submitter
- p.Thr450= Single submitter
- p.Thr472= Single submitter
- p.Thr510= Single submitter
- p.Thr547Ser Single submitter Inborn genetic diseases
- p.Thr574= Single submitter
- p.Thr653= Single submitter
- p.Thr779= Single submitter
- p.Tyr333= Single submitter
- p.Tyr432= Single submitter
- p.Tyr654= Single submitter
- p.Tyr670= Single submitter
- p.Val136= Single submitter
- p.Val195= Single submitter
- p.Val208= Single submitter
- p.Val346= Single submitter
- p.Val378= Single submitter
- p.Val417= Single submitter
- p.Val494= Single submitter
- p.Val57= Single submitter
- c.-9G>C No assertion criteria CTNNB1-related disorder
- p.Gln773Lys No assertion criteria autosomal dominant polycystic liver disease
- p.His470Tyr No assertion criteria intellectual disability
- p.Thr418= No assertion criteria CTNNB1-related disorder
Uncertain significance 312
Showing the top 300 by review status; the full set is in the sitemap.
- c.1803+3A>G Multiple submitters
- c.2077-2A>G Multiple submitters Inborn genetic diseases
- p.Ala20Val Multiple submitters CTNNB1-related disorder ⚠
- p.Ala215Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala2Gly Multiple submitters ⚠
- p.Ala509Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala525Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg200Leu Multiple submitters ⚠
- p.Arg376Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg469His Multiple submitters CTNNB1-related disorder ⚠
- p.Arg486His Multiple submitters Inborn genetic diseases ⚠
- p.Arg542Cys Multiple submitters ⚠
- p.Arg582_Val584del Multiple submitters Inborn genetic diseases
- p.Arg661Pro Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Arg710His Multiple submitters ⚠
- p.Asn51Ser Multiple submitters ⚠
- p.Gln113Arg Multiple submitters ⚠
- p.Gln28His Multiple submitters ⚠
- p.Gln322Arg Multiple submitters CTNNB1-related disorder ⚠
- p.Gly268Glu Multiple submitters ⚠
- p.Gly361Asp Multiple submitters ⚠
- p.His524Arg Multiple submitters hepatocellular carcinoma ⚠
- p.His544Tyr Multiple submitters ⚠
- p.Ile315Val Multiple submitters ⚠
- p.Ile465Val Multiple submitters ⚠
- p.Ile82Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu259Phe Multiple submitters ⚠
- p.Leu487Phe Multiple submitters ⚠
- p.Leu762Pro Multiple submitters ⚠
- p.Met14Val Multiple submitters ⚠
- p.Met566Thr Multiple submitters ⚠
- p.Met688Val Multiple submitters ⚠
- p.Phe683Ser Multiple submitters ⚠
- p.Pro714Ser Multiple submitters exudative vitreoretinopathy 7 ⚠
- p.Ser111Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser60Cys Multiple submitters CTNNB1-related disorder ⚠
- p.Thr205Ile Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Thr510Ala Multiple submitters ⚠
- p.Tyr306Phe Multiple submitters severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Val416Met Multiple submitters Inborn genetic diseases ⚠
- c.1082-3T>C Single submitter
- c.1185+3A>G Single submitter
- c.1185+4A>C Single submitter
- c.1524+3A>C Single submitter
- c.1803+5G>T Single submitter
- c.2076+6G>A Single submitter
- c.2137+1G>A Single submitter Inborn genetic diseases
- c.2137+3A>G Single submitter
- c.2138-2A>C Single submitter
- c.2138-3T>G Single submitter
- c.241+5G>C Single submitter
- c.735-3C>T Single submitter
- c.937-15T>G Single submitter
- p.Ala116Val Single submitter ⚠
- p.Ala117Thr Single submitter ⚠
- p.Ala135Gly Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala172Thr Single submitter ⚠
- p.Ala187Gly Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Ala215Val Single submitter ⚠
- p.Ala21Thr Single submitter ⚠
- p.Ala239Ser Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Ala360Thr Single submitter Inborn genetic diseases ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala420Thr Single submitter ⚠
- p.Ala464Thr Single submitter ⚠
- p.Ala532Thr Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Ala622Asn Single submitter
- p.Ala622Thr Single submitter ⚠
- p.Ala630Ser Single submitter ⚠
- p.Ala636Pro Single submitter ⚠
- p.Ala652Thr Single submitter Inborn genetic diseases ⚠
- p.Ala652Val Single submitter ⚠
- p.Ala655Glu Single submitter ⚠
- p.Ala655Val Single submitter ⚠
- p.Ala702Pro Single submitter ⚠
- p.Ala702Val Single submitter ⚠
- p.Ala759Gly Single submitter ⚠
- p.Ala775Ser Single submitter ⚠
- p.Ala80Pro Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg124Gly Single submitter ⚠
- p.Arg124Pro Single submitter ⚠
- p.Arg151Cys Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg190His Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg200His Single submitter Inborn genetic diseases ⚠
- p.Arg212Cys Single submitter ⚠
- p.Arg225Cys Single submitter ⚠
- p.Arg274Cys Single submitter ⚠
- p.Arg453Trp Single submitter ⚠
- p.Arg486Cys Single submitter autosomal dominant polycystic liver disease ⚠
- p.Arg486Ser Single submitter ⚠
- p.Arg528Cys Single submitter ⚠
- p.Arg528Pro Single submitter ⚠
- p.Arg549Cys Single submitter ⚠
- p.Arg550Cys Single submitter ⚠
- p.Arg550His Single submitter ⚠
- p.Arg565Cys Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Arg587Gln Single submitter ⚠
- p.Arg661Gln Single submitter ⚠
- p.Arg710Cys Single submitter exudative vitreoretinopathy 1 ⚠
- p.Arg95Gln Single submitter ⚠
- p.Asn121Thr Single submitter ⚠
- p.Asn138Asp Single submitter ⚠
- p.Asn161Ser Single submitter ⚠
- p.Asn204Asp Single submitter ⚠
- p.Asn204Ile Single submitter ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn426Asp Single submitter ⚠
- p.Asn483Ile Single submitter ⚠
- p.Asn483Ser Single submitter ⚠
- p.Asn586Asp Single submitter ⚠
- p.Asn648Ser Single submitter ⚠
- p.Asp144Gly Single submitter ⚠
- p.Asp144His Single submitter ⚠
- p.Asp372Glu Single submitter ⚠
- p.Asp412Asn Single submitter Inborn genetic diseases ⚠
- p.Asp412Gly Single submitter ⚠
- p.Asp56Ala Single submitter ⚠
- p.Asp583Val Single submitter ⚠
- p.Asp665Glu Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Asp727Glu Single submitter exudative vitreoretinopathy 7 ⚠
- p.Asp732Ala Single submitter ⚠
- p.Asp755Asn Single submitter ⚠
- p.Asp755His Single submitter ⚠
- p.Asp764Glu Single submitter ⚠
- p.Cys419Arg Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Gln143Glu Single submitter Inborn genetic diseases ⚠
- p.Gln165Glu Single submitter ⚠
- p.Gln26Arg Single submitter ⚠
- p.Gln280Arg Single submitter ⚠
- p.Gln379Arg Single submitter ⚠
- p.Gln407His Single submitter ⚠
- p.Gln545Arg Single submitter ⚠
- p.Gln601His Single submitter ⚠
- p.Gln68Pro Single submitter ⚠
- p.Gln703Pro Single submitter ⚠
- p.Gln711Glu Single submitter ⚠
- p.Gln76Glu Single submitter ⚠
- p.Gln78= Single submitter
- p.Gln85His Single submitter ⚠
- p.Glu163Asp Single submitter ⚠
- p.Glu182Lys Single submitter ⚠
- p.Glu209Gly Single submitter ⚠
- p.Glu310Gly Single submitter Inborn genetic diseases ⚠
- p.Glu396Asp Single submitter ⚠
- p.Glu529Lys Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Glu55Asp Single submitter ⚠
- p.Glu568_Ile569insGlu Single submitter
- p.Glu642Gln Single submitter ⚠
- p.Glu692= Single submitter
- p.Glu9Asp Single submitter ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly277Ala Single submitter Inborn genetic diseases ⚠
- p.Gly361Val Single submitter ⚠
- p.Gly397Arg Single submitter neurodevelopmental disorder ⚠
- p.Gly442Ala Single submitter ⚠
- p.Gly455Ser Single submitter ⚠
- p.Gly575Ala Single submitter ⚠
- p.Gly592Arg Single submitter ⚠
- p.Gly650= Single submitter
- p.Gly725Ser Single submitter ⚠
- p.Gly740Asp Single submitter ⚠
- p.Gly765Arg Single submitter ⚠
- p.Gly769Val Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.His134Asp Single submitter ⚠
- p.His24Leu Single submitter ⚠
- p.His260Tyr Single submitter congenital heart disease ⚠
- p.His475Tyr Single submitter ⚠
- p.His499Tyr Single submitter ⚠
- p.His645Arg Single submitter ⚠
- p.His737Arg Single submitter ⚠
- p.Ile198Leu Single submitter ⚠
- p.Ile198Val Single submitter ⚠
- p.Ile256Thr Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile357Val Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Ile588Leu Single submitter Inborn genetic diseases ⚠
- p.Ile590Thr Single submitter ⚠
- p.Ile590Val Single submitter ⚠
- p.Ile596Val Single submitter ⚠
- p.Ile607Thr Single submitter ⚠
- p.Ile607Val Single submitter ⚠
- p.Ile700Leu Single submitter ⚠
- p.Ile700Thr Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Ile700Val Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu218Ser Single submitter ⚠
- p.Leu228Phe Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu304Ser Single submitter Inborn genetic diseases ⚠
- p.Leu304Val Single submitter Inborn genetic diseases ⚠
- p.Leu313Phe Single submitter ⚠
- p.Leu324Ser Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Leu324Val Single submitter ⚠
- p.Leu377Ile Single submitter ⚠
- p.Leu388Pro Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Leu447Phe Single submitter ⚠
- p.Leu491Ile Single submitter ⚠
- p.Leu491Val Single submitter ⚠
- p.Leu540Pro Single submitter ⚠
- p.Leu593Ile Single submitter ⚠
- p.Leu621Ile Single submitter ⚠
- p.Leu644Pro Single submitter ⚠
- p.Leu682Pro Single submitter ⚠
- p.Leu696Val Single submitter Inborn genetic diseases ⚠
- p.Leu698Phe Single submitter ⚠
- p.Leu762Phe Single submitter ⚠
- p.Leu766Val Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys180Arg Single submitter ⚠
- p.Lys181Asn Single submitter ⚠
- p.Lys233Arg Single submitter ⚠
- p.Lys281Arg Single submitter ⚠
- p.Lys292Asn Single submitter osteosclerosis ⚠
- p.Lys625Arg Single submitter ⚠
- p.Lys671Glu Single submitter ⚠
- p.Met107Thr Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Met14Thr Single submitter ⚠
- p.Met1Val Single submitter CTNNB1-related syndromic intellectual disability
- p.Met202Val Single submitter ⚠
- p.Met243Ile Single submitter ⚠
- p.Met243Thr Single submitter ⚠
- p.Met271_Ala272del Single submitter
- p.Met271Lys Single submitter ⚠
- p.Met328Val Single submitter ⚠
- p.Met363Thr Single submitter ⚠
- p.Met436Ile Single submitter ⚠
- p.Met480Val Single submitter ⚠
- p.Met553Thr Single submitter severe intellectual disability-progressive spastic diplegia syndrome ⚠
- p.Met553Val Single submitter ⚠
- p.Met731Val Single submitter ⚠
- p.Met734Arg Single submitter ⚠
- p.Met734Thr Single submitter ⚠
- p.Met739Ile Single submitter ⚠
- p.Met763Ile Single submitter ⚠
- p.Met88Val Single submitter ⚠
- p.Met8Ile Single submitter ⚠
- p.Met98Ile Single submitter ⚠
- p.Met98Val Single submitter ⚠
- p.Phe232_Lys233delinsLeuArg Single submitter
- p.Phe232Leu Single submitter ⚠
- p.Phe99Leu Single submitter ⚠
- p.Pro192Ser Single submitter ⚠
- p.Pro373_Ser374insArgAspPro Single submitter
- p.Pro373Thr Single submitter ⚠
- p.Pro526Leu Single submitter ⚠
- p.Pro526Ser Single submitter ⚠
- p.Pro606Leu Single submitter ⚠
- p.Pro639Ser Single submitter ⚠
- p.Pro714Arg Single submitter ⚠
- p.Pro754Ala Single submitter ⚠
- p.Pro767Leu Single submitter ⚠
- p.Pro768Ser Single submitter ⚠
- p.Ser179Ala Single submitter ⚠
- p.Ser222Phe Single submitter ⚠
- p.Ser23Gly Single submitter ⚠
- p.Ser250Pro Single submitter ⚠
- p.Ser29Cys Single submitter ⚠
- p.Ser311Gly Single submitter ⚠
- p.Ser341Asn Single submitter ⚠
- p.Ser351Phe Single submitter ⚠
- p.Ser352Gly Single submitter ⚠
- p.Ser646Pro Single submitter ⚠
- p.Ser771Gly Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr214Ala Single submitter ⚠
- p.Thr258Ser Single submitter ⚠
- p.Thr297Met Single submitter ⚠
- p.Thr298Arg Single submitter ⚠
- p.Thr332Ala Single submitter ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr41Ser Single submitter Inborn genetic diseases ⚠
- p.Thr42Ala Single submitter ⚠
- p.Thr42Arg Single submitter ⚠
- p.Thr551Met Single submitter ⚠
- p.Thr556Ala Single submitter ⚠
- p.Thr59Ile Single submitter ⚠
- p.Thr75Ile Single submitter ⚠
- p.Tyr254Cys Single submitter ⚠
- p.Tyr432Cys Single submitter ⚠
- p.Tyr489Cys Single submitter ⚠
- p.Tyr654Phe Single submitter ⚠
- p.Tyr716Cys Single submitter ⚠
- p.Tyr748Cys Single submitter ⚠
- p.Val167Leu Single submitter ⚠
- p.Val241= Single submitter
- p.Val251Leu Single submitter ⚠
- p.Val273Leu Single submitter ⚠
- p.Val291Ile Single submitter ⚠
- p.Val438Leu Single submitter ⚠
- p.Val494Leu Single submitter ⚠