ANKIB1 — 107 ClinVar variants
All ClinVar germline ANKIB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
1 Benign · 1 Benign/Likely benign · 4 Likely benign · 101 Uncertain significance
Full ANKIB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKIB1 p.Ala1062Val Uncertain significance Single submitter
- ANKIB1 p.Ala218Thr Uncertain significance Single submitter
- ANKIB1 p.Ala257Gly Uncertain significance Single submitter
- ANKIB1 p.Ala986Val Uncertain significance Single submitter
- ANKIB1 p.Arg105Cys Uncertain significance Single submitter
- ANKIB1 p.Arg135Lys Uncertain significance Single submitter
- ANKIB1 p.Arg135Thr Uncertain significance Single submitter
- ANKIB1 p.Arg222Gln Uncertain significance Single submitter
- ANKIB1 p.Arg743Cys Uncertain significance Single submitter
- ANKIB1 p.Arg776His Uncertain significance Single submitter
- ANKIB1 p.Arg829His Uncertain significance Single submitter
- ANKIB1 p.Asn297Ser Uncertain significance Single submitter
- ANKIB1 p.Asn439Asp Uncertain significance Single submitter
- ANKIB1 p.Asn881Ser Uncertain significance Single submitter
- ANKIB1 p.Asn966Ser Uncertain significance Single submitter
- ANKIB1 p.Asp1013Gly Uncertain significance Single submitter
- ANKIB1 p.Asp1067Gly Uncertain significance Single submitter
- ANKIB1 p.Asp791Ala Uncertain significance Single submitter
- ANKIB1 p.Asp791Gly Uncertain significance Single submitter
- ANKIB1 p.Asp872Asn Uncertain significance Single submitter
- ANKIB1 p.Asp962His Uncertain significance Single submitter
- ANKIB1 p.Cys1003Phe Uncertain significance Single submitter
- ANKIB1 p.Cys1003Tyr Uncertain significance Single submitter
- ANKIB1 p.Cys465Arg Uncertain significance Single submitter
- ANKIB1 p.Cys519Trp Uncertain significance Single submitter
- ANKIB1 p.Cys950Ser Uncertain significance Single submitter
- ANKIB1 p.Gln130Glu Uncertain significance Single submitter
- ANKIB1 p.Gln130His Uncertain significance Single submitter
- ANKIB1 p.Gln188His Uncertain significance Single submitter
- ANKIB1 p.Gln983Arg Uncertain significance Single submitter
- ANKIB1 p.Glu1050Asp Uncertain significance Single submitter
- ANKIB1 p.Glu584Lys Uncertain significance Single submitter
- ANKIB1 p.Gly1010Val Uncertain significance Single submitter
- ANKIB1 p.Gly131Arg Uncertain significance Single submitter
- ANKIB1 p.Gly67Asp Uncertain significance Single submitter
- ANKIB1 p.Gly926Arg Uncertain significance Single submitter
- ANKIB1 p.Gly971Ser Uncertain significance Single submitter
- ANKIB1 p.Ile391Val Uncertain significance Single submitter
- ANKIB1 p.Lys553Glu Uncertain significance Single submitter
- ANKIB1 p.Met349Val Uncertain significance Single submitter
- ANKIB1 p.Phe932Cys Uncertain significance Single submitter
- ANKIB1 p.Pro224Thr Uncertain significance Single submitter
- ANKIB1 p.Pro43Leu Uncertain significance Single submitter
- ANKIB1 p.Pro49Ser Uncertain significance Single submitter
- ANKIB1 p.Pro788Ala Uncertain significance Single submitter
- ANKIB1 p.Pro900Ser Uncertain significance Single submitter
- ANKIB1 p.Pro990Ala Uncertain significance Single submitter
- ANKIB1 p.Ser1008Thr Uncertain significance Single submitter
- ANKIB1 p.Ser1028Gly Uncertain significance Single submitter
- ANKIB1 p.Ser331Ile Uncertain significance Single submitter
- ANKIB1 p.Ser441Pro Uncertain significance Single submitter
- ANKIB1 p.Ser782Asn Uncertain significance Single submitter
- ANKIB1 p.Ser806Arg Uncertain significance Single submitter
- ANKIB1 p.Ser880Gly Uncertain significance Single submitter
- ANKIB1 p.Ser954Gly Uncertain significance Single submitter
- ANKIB1 p.Thr311Ala Uncertain significance Single submitter
- ANKIB1 p.Thr64Ala Uncertain significance Single submitter
- ANKIB1 p.Tyr763Cys Uncertain significance Single submitter
- ANKIB1 p.Tyr831Cys Uncertain significance Single submitter
- ANKIB1 p.Val1011Ala Uncertain significance Single submitter
- ANKIB1 p.Val1029Ala Uncertain significance Single submitter
- ANKIB1 p.Val1029Ile Uncertain significance Single submitter
- ANKIB1 p.Val1071Ile Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- ANKIB1 p.Ala126Thr Uncertain significance Single submitter
- ANKIB1 p.Arg102Cys Uncertain significance Single submitter
- ANKIB1 p.Arg102Leu Uncertain significance Single submitter
- ANKIB1 p.Arg564Lys Uncertain significance Single submitter
- ANKIB1 p.Arg591Gln Uncertain significance Single submitter
- ANKIB1 p.Arg617His Uncertain significance Single submitter
- ANKIB1 p.Arg743His Uncertain significance Single submitter
- ANKIB1 p.Arg808Cys Uncertain significance Single submitter
- ANKIB1 p.Arg829Cys Uncertain significance Single submitter
- ANKIB1 p.Arg895Met Uncertain significance Single submitter
- ANKIB1 p.Arg907Trp Uncertain significance Single submitter
- ANKIB1 p.Asn981Lys Uncertain significance Single submitter
- ANKIB1 p.Asp110Glu Uncertain significance Single submitter
- ANKIB1 p.Asp110His Uncertain significance Single submitter
- ANKIB1 p.Asp935Tyr Uncertain significance Single submitter
- ANKIB1 p.Gln45His Uncertain significance Single submitter
- ANKIB1 p.Glu1039Lys Uncertain significance Single submitter
- ANKIB1 p.Glu1061Lys Uncertain significance Single submitter
- ANKIB1 p.Glu671Gln Uncertain significance Single submitter
- ANKIB1 p.Ile340Val Uncertain significance Single submitter
- ANKIB1 p.Ile392Val Uncertain significance Single submitter
- ANKIB1 p.Ile61Met Uncertain significance Single submitter
- ANKIB1 p.Leu755Ser Uncertain significance Single submitter
- ANKIB1 p.Met274Leu Uncertain significance Single submitter
- ANKIB1 p.Met288Ile Uncertain significance Single submitter
- ANKIB1 p.Phe766Leu Uncertain significance Single submitter
- ANKIB1 p.Pro701Thr Uncertain significance Single submitter
- ANKIB1 p.Ser275Cys Uncertain significance Single submitter
- ANKIB1 p.Ser674Asn Uncertain significance Single submitter
- ANKIB1 p.Ser796Ile Uncertain significance Single submitter
- ANKIB1 p.Ser805Gly Uncertain significance Single submitter
- ANKIB1 p.Ser827Phe Uncertain significance Single submitter
- ANKIB1 p.Ser898Cys Uncertain significance Single submitter
- ANKIB1 p.Ser95Phe Uncertain significance Single submitter
- ANKIB1 p.Thr440Ile Uncertain significance Single submitter
- ANKIB1 p.Thr675Ile Uncertain significance Single submitter
- ANKIB1 p.Tyr133Cys Uncertain significance Single submitter
All ANKIB1 variants
Benign 1
- p.Gln1077Glu Single submitter
Benign/Likely benign 1
- c.-605T>C Multiple submitters angiokeratoma corporis diffusum with arteriovenous fistulas
Likely benign 4
- p.Gly1007Glu Single submitter
- p.Gly1032Asp Single submitter
- p.Ser557= Single submitter
- p.Thr107Ala Single submitter
Uncertain significance 101
- c.-516CCGGAG[4] Single submitter
- p.Ala1062Val Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala218Thr Single submitter ⚠
- p.Ala257Gly Single submitter ⚠
- p.Ala986Val Single submitter ⚠
- p.Arg102Cys Single submitter ⚠
- p.Arg102Leu Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg135Lys Single submitter ⚠
- p.Arg135Thr Single submitter ⚠
- p.Arg222Gln Single submitter ⚠
- p.Arg564Lys Single submitter ⚠
- p.Arg591Gln Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg743Cys Single submitter ⚠
- p.Arg743His Single submitter ⚠
- p.Arg776His Single submitter ⚠
- p.Arg808Cys Single submitter ⚠
- p.Arg829Cys Single submitter ⚠
- p.Arg829His Single submitter ⚠
- p.Arg895Met Single submitter ⚠
- p.Arg907Trp Single submitter ⚠
- p.Asn297Ser Single submitter ⚠
- p.Asn439Asp Single submitter ⚠
- p.Asn881Ser Single submitter ⚠
- p.Asn966Ser Single submitter ⚠
- p.Asn981Lys Single submitter ⚠
- p.Asp1013Gly Single submitter ⚠
- p.Asp1067Gly Single submitter ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp110His Single submitter ⚠
- p.Asp791Ala Single submitter ⚠
- p.Asp791Gly Single submitter ⚠
- p.Asp872Asn Single submitter ⚠
- p.Asp935Tyr Single submitter ⚠
- p.Asp962His Single submitter ⚠
- p.Cys1003Phe Single submitter ⚠
- p.Cys1003Tyr Single submitter ⚠
- p.Cys465Arg Single submitter ⚠
- p.Cys519Trp Single submitter ⚠
- p.Cys950Ser Single submitter ⚠
- p.Gln130Glu Single submitter ⚠
- p.Gln130His Single submitter ⚠
- p.Gln188His Single submitter ⚠
- p.Gln45His Single submitter ⚠
- p.Gln983Arg Single submitter ⚠
- p.Glu1039Lys Single submitter ⚠
- p.Glu1050Asp Single submitter ⚠
- p.Glu1061Lys Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.Glu671Gln Single submitter ⚠
- p.Gly1010Val Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly67Asp Single submitter ⚠
- p.Gly926Arg Single submitter ⚠
- p.Gly971Ser Single submitter ⚠
- p.Ile340Val Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile392Val Single submitter ⚠
- p.Ile61Met Single submitter ⚠
- p.Leu755Ser Single submitter ⚠
- p.Lys553Glu Single submitter ⚠
- p.Met274Leu Single submitter ⚠
- p.Met288Ile Single submitter ⚠
- p.Met349Val Single submitter ⚠
- p.Phe766Leu Single submitter ⚠
- p.Phe932Cys Single submitter ⚠
- p.Pro224Thr Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro701Thr Single submitter ⚠
- p.Pro788Ala Single submitter ⚠
- p.Pro900Ser Single submitter ⚠
- p.Pro990Ala Single submitter ⚠
- p.Ser1008Thr Single submitter ⚠
- p.Ser1028Gly Single submitter ⚠
- p.Ser275Cys Single submitter ⚠
- p.Ser331Ile Single submitter ⚠
- p.Ser441Pro Single submitter ⚠
- p.Ser674Asn Single submitter ⚠
- p.Ser782Asn Single submitter ⚠
- p.Ser796Ile Single submitter ⚠
- p.Ser805Gly Single submitter ⚠
- p.Ser806Arg Single submitter ⚠
- p.Ser827Phe Single submitter ⚠
- p.Ser880Gly Single submitter ⚠
- p.Ser898Cys Single submitter ⚠
- p.Ser954Gly Single submitter ⚠
- p.Ser95Phe Single submitter ⚠
- p.Thr311Ala Single submitter ⚠
- p.Thr440Ile Single submitter ⚠
- p.Thr64Ala Single submitter ⚠
- p.Thr675Ile Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr763Cys Single submitter ⚠
- p.Tyr831Cys Single submitter ⚠
- p.Val1011Ala Single submitter ⚠
- p.Val1029Ala Single submitter ⚠
- p.Val1029Ile Single submitter ⚠
- p.Val1071Ile Single submitter ⚠