AXIN1 — 156 ClinVar variants
All ClinVar germline AXIN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
4 Pathogenic · 14 Benign · 6 Benign/Likely benign · 26 Likely benign · 106 Uncertain significance
Full AXIN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AXIN1 p.Ala405Thr Uncertain significance Single submitter
- AXIN1 p.Ala441Asp Uncertain significance Single submitter
- AXIN1 p.Ala510Thr Uncertain significance Single submitter
- AXIN1 p.Ala558Thr Uncertain significance Single submitter
- AXIN1 p.Ala573Gly Uncertain significance Single submitter
- AXIN1 p.Ala601Val Uncertain significance Single submitter
- AXIN1 p.Ala745Val Uncertain significance Single submitter
- AXIN1 p.Arg450Cys Uncertain significance Single submitter
- AXIN1 p.Arg460Gln Uncertain significance Single submitter
- AXIN1 p.Arg477His Uncertain significance Single submitter
- AXIN1 p.Arg484His Uncertain significance Single submitter
- AXIN1 p.Arg680Gln Uncertain significance Single submitter
- AXIN1 p.Arg713His Uncertain significance Single submitter
- AXIN1 p.Arg737Pro Uncertain significance Single submitter
- AXIN1 p.Arg803His Uncertain significance Single submitter
- AXIN1 p.Asn152Lys Uncertain significance Single submitter
- AXIN1 p.Asn605Asp Uncertain significance Single submitter
- AXIN1 p.Asp151Asn Uncertain significance Single submitter
- AXIN1 p.Asp426Asn Uncertain significance Single submitter
- AXIN1 p.Asp862His Uncertain significance Single submitter
- AXIN1 p.Cys171Ser Uncertain significance Single submitter
- AXIN1 p.Cys221Tyr Uncertain significance Single submitter
- AXIN1 p.Cys435Tyr Uncertain significance Single submitter
- AXIN1 p.Cys456Arg Uncertain significance Single submitter
- AXIN1 p.Gln159Pro Uncertain significance Single submitter
- AXIN1 p.Gln4Arg Uncertain significance Single submitter
- AXIN1 p.Gln660Leu Uncertain significance Single submitter
- AXIN1 p.Glu423Lys Uncertain significance Single submitter
- AXIN1 p.Glu55Asp Uncertain significance Single submitter
- AXIN1 p.Glu638Asp Uncertain significance Single submitter
- AXIN1 p.Glu844Lys Uncertain significance Single submitter
- AXIN1 p.Gly229Arg Uncertain significance Single submitter
- AXIN1 p.Gly47Arg Uncertain significance Single submitter
- AXIN1 p.Gly47Glu Uncertain significance Single submitter
- AXIN1 p.Gly599Asp Uncertain significance Single submitter
- AXIN1 p.Gly612Ala Uncertain significance Single submitter
- AXIN1 p.Gly775Arg Uncertain significance Single submitter
- AXIN1 p.Gly791Arg Uncertain significance Single submitter
- AXIN1 p.His394Gln Uncertain significance Single submitter
- AXIN1 p.His498Gln Uncertain significance Single submitter
- AXIN1 p.Ile149Leu Uncertain significance Single submitter
- AXIN1 p.Ile234Met Uncertain significance Single submitter
- AXIN1 p.Ile637Thr Uncertain significance Single submitter
- AXIN1 p.Leu799Val Uncertain significance Single submitter
- AXIN1 p.Lys248Thr Uncertain significance Single submitter
- AXIN1 p.Lys853Asn Uncertain significance Single submitter
- AXIN1 p.Met173Thr Uncertain significance Single submitter
- AXIN1 p.Met356Val Uncertain significance Single submitter
- AXIN1 p.Pro199Thr Uncertain significance Single submitter
- AXIN1 p.Pro263Thr Uncertain significance Single submitter
- AXIN1 p.Pro378Arg Uncertain significance Single submitter
- AXIN1 p.Pro37Leu Uncertain significance Single submitter
- AXIN1 p.Pro39Ser Uncertain significance Single submitter
- AXIN1 p.Pro434Leu Uncertain significance Single submitter
- AXIN1 p.Pro586Leu Uncertain significance Single submitter
- AXIN1 p.Pro661Ser Uncertain significance Single submitter
- AXIN1 p.Ser287Gly Uncertain significance Single submitter
- AXIN1 p.Ser43Gly Uncertain significance Single submitter
- AXIN1 p.Ser579Pro Uncertain significance Single submitter
- AXIN1 p.Ser64Trp Uncertain significance Single submitter
- AXIN1 p.Ser682Pro Uncertain significance Single submitter
- AXIN1 p.Ser819Arg Uncertain significance Single submitter
- AXIN1 p.Thr649Asn Uncertain significance Single submitter
- AXIN1 p.Thr656Ser Uncertain significance Single submitter
- AXIN1 p.Val366Leu Uncertain significance Single submitter
- AXIN1 p.Val756Met Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- AXIN1 p.Ala526Val Benign Multiple submitters
-
AXIN1 p.Arg373His
Uncertain significance
Multiple submitters
hepatocellular carcinoma
-
AXIN1 p.Arg841Gln
Benign/Likely benign
Multiple submitters
caudal duplication
- AXIN1 p.Arg22Gln Uncertain significance Single submitter
- AXIN1 p.Arg298Trp Uncertain significance Single submitter
- AXIN1 p.Arg347Gly Uncertain significance Single submitter
- AXIN1 p.Arg376Trp Uncertain significance Single submitter
- AXIN1 p.Arg382Cys Uncertain significance Single submitter
- AXIN1 p.Arg401Cys Uncertain significance Single submitter
- AXIN1 p.Arg415His Uncertain significance Single submitter
- AXIN1 p.Arg417Leu Uncertain significance Single submitter
- AXIN1 p.Arg680Trp Uncertain significance Single submitter
- AXIN1 p.Arg723Gln Uncertain significance Single submitter
- AXIN1 p.Asp829Tyr Uncertain significance Single submitter
- AXIN1 p.Asp843Glu Uncertain significance Single submitter
- AXIN1 p.Glu355Val Uncertain significance Single submitter
- AXIN1 p.Glu763Lys Uncertain significance Single submitter
- AXIN1 p.Gly422Ser Uncertain significance Single submitter
- AXIN1 p.His352Asn Uncertain significance Single submitter
- AXIN1 p.His534Gln Uncertain significance Single submitter
- AXIN1 p.His541Asn Uncertain significance Single submitter
- AXIN1 p.Ile854Leu Uncertain significance Single submitter
- AXIN1 p.Leu670Phe Uncertain significance Single submitter
- AXIN1 p.Lys631Ile Uncertain significance Single submitter
- AXIN1 p.Met193Val Uncertain significance Single submitter
- AXIN1 p.Pro162Thr Uncertain significance Single submitter
- AXIN1 p.Pro239Leu Uncertain significance Single submitter
- AXIN1 p.Pro369Arg Uncertain significance Single submitter
- AXIN1 p.Ser132Leu Uncertain significance Single submitter
- AXIN1 p.Ser282Cys Uncertain significance Single submitter
- AXIN1 p.Ser282Tyr Uncertain significance Single submitter
- AXIN1 p.Ser43Asn Uncertain significance Single submitter
- AXIN1 p.Thr275Ile Uncertain significance Single submitter
- AXIN1 p.Thr656Met Uncertain significance Single submitter
- AXIN1 p.Val416Met Uncertain significance Single submitter
- AXIN1 p.Val517Ile Likely benign Single submitter
- AXIN1 p.Val742Ile Uncertain significance Single submitter
- AXIN1 p.Val784Ala Uncertain significance Single submitter
- AXIN1 p.Val827Met Uncertain significance Single submitter
- AXIN1 p.Val846Ala Uncertain significance Single submitter
- AXIN1 p.Val846Ile Uncertain significance Single submitter
All AXIN1 variants
Pathogenic 4
- p.Gln732Ter Single submitter craniometadiaphyseal osteosclerosis with hip dysplasia
- p.Arg841Ter No assertion criteria craniometadiaphyseal osteosclerosis with hip dysplasia
- p.Val362fs No assertion criteria hepatocellular carcinoma
- p.Val835fs No assertion criteria craniometadiaphyseal osteosclerosis with hip dysplasia
Benign 14
- p.Ala526Val Multiple submitters ⚠
- p.Ala552= Multiple submitters
- p.Arg803= Multiple submitters
- p.Asp254= Multiple submitters
- p.Pro661= Multiple submitters
- p.Ala526= Single submitter
- p.Gly650Ser Single submitter
- p.Ser511= Single submitter
- c.2294+8C>T No assertion criteria AXIN1-related disorder
- c.*37C>A No assertion criteria AXIN1-related disorder
- c.*8G>A No assertion criteria AXIN1-related disorder
- p.Asp525= No assertion criteria AXIN1-related disorder
- p.Gly425Ser No assertion criteria AXIN1-related disorder
- p.Gly74= No assertion criteria AXIN1-related disorder
Benign/Likely benign 6
- c.2186+7C>T Multiple submitters
- p.Arg801= Multiple submitters caudal duplication
- p.Arg841Gln Multiple submitters caudal duplication ⚠
- p.Asp495Glu Multiple submitters
- p.Gln559= Multiple submitters
- p.Ile855= Multiple submitters
Likely benign 26
- c.2186+4C>T Multiple submitters
- c.2186+8C>T Single submitter
- p.Ala389= Single submitter
- p.Ala40Val Single submitter
- p.Cys451Tyr Single submitter
- p.Cys602Ser Single submitter
- p.Cys741= Single submitter
- p.Gly676Ser Single submitter
- p.Met454Val Single submitter
- p.Pro278Leu Single submitter
- p.Pro39= Single submitter
- p.Thr187= Single submitter
- p.Val517Ile Single submitter ⚠
- p.Val861= Single submitter
- c.1116+10G>A No assertion criteria AXIN1-related disorder
- c.2463-9G>A No assertion criteria AXIN1-related disorder
- p.Ala710= No assertion criteria AXIN1-related disorder
- p.Arg382His No assertion criteria AXIN1-related disorder
- p.Cys790= No assertion criteria
- p.Gly425= No assertion criteria AXIN1-related disorder
- p.His534= No assertion criteria AXIN1-related disorder
- p.His538= No assertion criteria AXIN1-related disorder
- p.Leu438= No assertion criteria AXIN1-related disorder
- p.Ser614= No assertion criteria AXIN1-related disorder
- p.Ser828= No assertion criteria AXIN1-related disorder
- p.Val742= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 106
- p.Arg373His Multiple submitters hepatocellular carcinoma ⚠
- c.2186+5G>A Single submitter
- p.Ala405Thr Single submitter ⚠
- p.Ala441Asp Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala558Thr Single submitter ⚠
- p.Ala573Gly Single submitter ⚠
- p.Ala601Val Single submitter ⚠
- p.Ala745Val Single submitter ⚠
- p.Arg22Gln Single submitter ⚠
- p.Arg298Trp Single submitter ⚠
- p.Arg347Gly Single submitter ⚠
- p.Arg376Trp Single submitter ⚠
- p.Arg382Cys Single submitter ⚠
- p.Arg401Cys Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg417Leu Single submitter ⚠
- p.Arg450Cys Single submitter ⚠
- p.Arg460Gln Single submitter ⚠
- p.Arg477His Single submitter ⚠
- p.Arg484His Single submitter ⚠
- p.Arg680Gln Single submitter ⚠
- p.Arg680Trp Single submitter ⚠
- p.Arg713His Single submitter ⚠
- p.Arg723Gln Single submitter ⚠
- p.Arg723Ter Single submitter hepatocellular carcinoma
- p.Arg737Pro Single submitter ⚠
- p.Arg803His Single submitter ⚠
- p.Asn152Lys Single submitter ⚠
- p.Asn605Asp Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp426Asn Single submitter ⚠
- p.Asp829Tyr Single submitter ⚠
- p.Asp843Glu Single submitter ⚠
- p.Asp862His Single submitter ⚠
- p.Cys171Ser Single submitter ⚠
- p.Cys221Tyr Single submitter ⚠
- p.Cys435Tyr Single submitter ⚠
- p.Cys456Arg Single submitter ⚠
- p.Gln159Pro Single submitter ⚠
- p.Gln4Arg Single submitter ⚠
- p.Gln660Leu Single submitter ⚠
- p.Glu355Val Single submitter ⚠
- p.Glu423Lys Single submitter ⚠
- p.Glu55Asp Single submitter ⚠
- p.Glu638Asp Single submitter ⚠
- p.Glu763Lys Single submitter ⚠
- p.Glu844Lys Single submitter ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly47Arg Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.Gly599Asp Single submitter ⚠
- p.Gly612Ala Single submitter ⚠
- p.Gly775Arg Single submitter ⚠
- p.Gly791Arg Single submitter ⚠
- p.His352Asn Single submitter ⚠
- p.His394Gln Single submitter ⚠
- p.His498Gln Single submitter ⚠
- p.His534Gln Single submitter ⚠
- p.His541Asn Single submitter ⚠
- p.Ile149Leu Single submitter ⚠
- p.Ile234Met Single submitter ⚠
- p.Ile637Thr Single submitter ⚠
- p.Ile854Leu Single submitter ⚠
- p.Leu670Phe Single submitter ⚠
- p.Leu799Val Single submitter ⚠
- p.Lys248Thr Single submitter ⚠
- p.Lys631Ile Single submitter ⚠
- p.Lys853Asn Single submitter ⚠
- p.Met173Thr Single submitter ⚠
- p.Met193Val Single submitter ⚠
- p.Met356Val Single submitter ⚠
- p.Pro162Thr Single submitter ⚠
- p.Pro199Thr Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro263Thr Single submitter ⚠
- p.Pro369Arg Single submitter ⚠
- p.Pro378Arg Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Pro434Leu Single submitter ⚠
- p.Pro586Leu Single submitter ⚠
- p.Pro661Ser Single submitter ⚠
- p.Ser132Leu Single submitter ⚠
- p.Ser282Cys Single submitter ⚠
- p.Ser282Tyr Single submitter ⚠
- p.Ser287Gly Single submitter ⚠
- p.Ser43Asn Single submitter ⚠
- p.Ser43Gly Single submitter ⚠
- p.Ser579Pro Single submitter ⚠
- p.Ser64Trp Single submitter ⚠
- p.Ser682Pro Single submitter ⚠
- p.Ser819Arg Single submitter ⚠
- p.Thr275Ile Single submitter ⚠
- p.Thr649Asn Single submitter ⚠
- p.Thr656Met Single submitter ⚠
- p.Thr656Ser Single submitter ⚠
- p.Val366Leu Single submitter ⚠
- p.Val416Met Single submitter ⚠
- p.Val742Ile Single submitter ⚠
- p.Val756Met Single submitter ⚠
- p.Val784Ala Single submitter ⚠
- p.Val827Met Single submitter ⚠
- p.Val846Ala Single submitter ⚠
- p.Val846Ile Single submitter ⚠