IP6K1 — 40 ClinVar variants
All ClinVar germline IP6K1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
40 Uncertain significance
Full IP6K1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IP6K1 p.Ala136Val Uncertain significance Single submitter
- IP6K1 p.Ala369Val Uncertain significance Single submitter
- IP6K1 p.Ala385Val Uncertain significance Single submitter
- IP6K1 p.Arg110Trp Uncertain significance Single submitter
- IP6K1 p.Arg18Gln Uncertain significance Single submitter
- IP6K1 p.Arg230Gln Uncertain significance Single submitter
- IP6K1 p.Arg243Trp Uncertain significance Single submitter
- IP6K1 p.Arg246Gln Uncertain significance Single submitter
- IP6K1 p.Arg305Cys Uncertain significance Single submitter
- IP6K1 p.Arg316Gln Uncertain significance Single submitter
- IP6K1 p.Arg353Trp Uncertain significance Single submitter
- IP6K1 p.Arg396Cys Uncertain significance Single submitter
- IP6K1 p.Asp362Asn Uncertain significance Single submitter
- IP6K1 p.Cys221Ser Uncertain significance Single submitter
- IP6K1 p.Cys344Ser Uncertain significance Single submitter
- IP6K1 p.Gln11Lys Uncertain significance Single submitter
- IP6K1 p.Glu355Gln Uncertain significance Single submitter
- IP6K1 p.Gly13Arg Uncertain significance Single submitter
- IP6K1 p.Gly317Val Uncertain significance Single submitter
- IP6K1 p.Gly386Asp Uncertain significance Single submitter
- IP6K1 p.Leu312Val Uncertain significance Single submitter
- IP6K1 p.Lys342Arg Uncertain significance Single submitter
- IP6K1 p.Met40Arg Uncertain significance Single submitter
- IP6K1 p.Met433Leu Uncertain significance Single submitter
- IP6K1 p.Pro378Ser Uncertain significance Single submitter
- IP6K1 p.Ser137Asn Uncertain significance Single submitter
- IP6K1 p.Ser137Thr Uncertain significance Single submitter
- IP6K1 p.Ser184Ile Uncertain significance Single submitter
- IP6K1 p.Ser371Cys Uncertain significance Single submitter
- IP6K1 p.Ser85Gly Uncertain significance Single submitter
- IP6K1 p.Val162Phe Uncertain significance Single submitter
- IP6K1 p.Val364Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- IP6K1 p.Arg115Cys Uncertain significance Single submitter
- IP6K1 p.Arg196Cys Uncertain significance Single submitter
- IP6K1 p.Glu65Lys Uncertain significance Single submitter
- IP6K1 p.Ile52Thr Uncertain significance Single submitter
- IP6K1 p.Leu293Phe Uncertain significance Single submitter
- IP6K1 p.Thr255Met Uncertain significance Single submitter
- IP6K1 p.Val77Ile Uncertain significance Single submitter
All IP6K1 variants
Uncertain significance 40
- p.Ala136Val Single submitter ⚠
- p.Ala369Val Single submitter ⚠
- p.Ala385Val Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg115Cys Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg196Cys Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg316Gln Single submitter ⚠
- p.Arg353Trp Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg41His Single submitter
- p.Asp362Asn Single submitter ⚠
- p.Cys221Ser Single submitter ⚠
- p.Cys344Ser Single submitter ⚠
- p.Gln11Lys Single submitter ⚠
- p.Glu355Gln Single submitter ⚠
- p.Glu65Lys Single submitter ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly317Val Single submitter ⚠
- p.Gly386Asp Single submitter ⚠
- p.Ile52Thr Single submitter ⚠
- p.Leu293Phe Single submitter ⚠
- p.Leu312Val Single submitter ⚠
- p.Lys342Arg Single submitter ⚠
- p.Met40Arg Single submitter ⚠
- p.Met433Leu Single submitter ⚠
- p.Pro378Ser Single submitter ⚠
- p.Ser137Asn Single submitter ⚠
- p.Ser137Thr Single submitter ⚠
- p.Ser184Ile Single submitter ⚠
- p.Ser371Cys Single submitter ⚠
- p.Ser85Gly Single submitter ⚠
- p.Thr255Met Single submitter ⚠
- p.Val162Phe Single submitter ⚠
- p.Val364Met Single submitter ⚠
- p.Val77Ile Single submitter ⚠