RIOK1 — 87 ClinVar variants
All ClinVar germline RIOK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
7 Likely benign · 80 Uncertain significance
Full RIOK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIOK1 p.Ala80Ser Uncertain significance Single submitter
- RIOK1 p.Arg148Leu Uncertain significance Single submitter
- RIOK1 p.Arg301Trp Uncertain significance Single submitter
- RIOK1 p.Arg5Gln Uncertain significance Single submitter
- RIOK1 p.Asn253Ser Uncertain significance Single submitter
- RIOK1 p.Asn363Ile Uncertain significance Single submitter
- RIOK1 p.Asn365Ser Uncertain significance Single submitter
- RIOK1 p.Asn488Lys Uncertain significance Single submitter
- RIOK1 p.Asp17Ala Uncertain significance Single submitter
- RIOK1 p.Asp445Asn Uncertain significance Single submitter
- RIOK1 p.Asp454Val Uncertain significance Single submitter
- RIOK1 p.Asp45Gly Uncertain significance Single submitter
- RIOK1 p.Asp497Asn Uncertain significance Single submitter
- RIOK1 p.Asp67Glu Uncertain significance Single submitter
- RIOK1 p.Asp68Gly Uncertain significance Single submitter
- RIOK1 p.Cys495Tyr Uncertain significance Single submitter
- RIOK1 p.Gln15Pro Uncertain significance Single submitter
- RIOK1 p.Glu487Ala Uncertain significance Single submitter
- RIOK1 p.Glu491Gln Uncertain significance Single submitter
- RIOK1 p.Gly515Glu Uncertain significance Single submitter
- RIOK1 p.Gly53Asp Uncertain significance Single submitter
- RIOK1 p.Gly87Arg Uncertain significance Single submitter
- RIOK1 p.His348Arg Uncertain significance Single submitter
- RIOK1 p.His517Arg Uncertain significance Single submitter
- RIOK1 p.His553Arg Uncertain significance Single submitter
- RIOK1 p.Ile149Val Uncertain significance Single submitter
- RIOK1 p.Ile179Leu Uncertain significance Single submitter
- RIOK1 p.Ile339Ser Uncertain significance Single submitter
- RIOK1 p.Ile447Phe Uncertain significance Single submitter
- RIOK1 p.Ile501Ser Uncertain significance Single submitter
- RIOK1 p.Ile529Thr Uncertain significance Single submitter
- RIOK1 p.Leu122Ile Uncertain significance Single submitter
- RIOK1 p.Leu174Ser Uncertain significance Single submitter
- RIOK1 p.Leu257Pro Uncertain significance Single submitter
- RIOK1 p.Lys150Arg Uncertain significance Single submitter
- RIOK1 p.Lys481Gln Uncertain significance Single submitter
- RIOK1 p.Lys552Glu Uncertain significance Single submitter
- RIOK1 p.Lys565Arg Uncertain significance Single submitter
- RIOK1 p.Met369Arg Uncertain significance Single submitter
- RIOK1 p.Met369Val Uncertain significance Single submitter
- RIOK1 p.Met457Leu Uncertain significance Single submitter
- RIOK1 p.Met537Val Uncertain significance Single submitter
- RIOK1 p.Met8Val Uncertain significance Single submitter
- RIOK1 p.Phe356Leu Uncertain significance Single submitter
- RIOK1 p.Pro239Arg Uncertain significance Single submitter
- RIOK1 p.Pro239Leu Uncertain significance Single submitter
- RIOK1 p.Pro388Ser Uncertain significance Single submitter
- RIOK1 p.Ser198Gly Uncertain significance Single submitter
- RIOK1 p.Ser503Ile Uncertain significance Single submitter
- RIOK1 p.Thr157Ile Uncertain significance Single submitter
- RIOK1 p.Thr410Ser Uncertain significance Single submitter
- RIOK1 p.Thr525Met Uncertain significance Single submitter
- RIOK1 p.Thr564Arg Uncertain significance Single submitter
- RIOK1 p.Trp72Cys Uncertain significance Single submitter
- RIOK1 p.Tyr3Cys Uncertain significance Single submitter
- RIOK1 p.Tyr440Cys Uncertain significance Single submitter
- RIOK1 p.Tyr440Phe Uncertain significance Single submitter
- RIOK1 p.Val194Ala Uncertain significance Single submitter
- RIOK1 p.Val274Ile Uncertain significance Single submitter
- RIOK1 p.Val342Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- RIOK1 p.Ala260Thr Uncertain significance Single submitter
- RIOK1 p.Arg10Trp Uncertain significance Single submitter
- RIOK1 p.Arg205Lys Uncertain significance Single submitter
- RIOK1 p.Asn365Asp Uncertain significance Single submitter
- RIOK1 p.Asn365Ile Uncertain significance Single submitter
- RIOK1 p.Asp349Asn Uncertain significance Single submitter
- RIOK1 p.Asp530Tyr Uncertain significance Single submitter
- RIOK1 p.Gln306Pro Uncertain significance Single submitter
- RIOK1 p.Gly567Arg Uncertain significance Single submitter
- RIOK1 p.His232Leu Uncertain significance Single submitter
- RIOK1 p.Lys401Glu Uncertain significance Single submitter
- RIOK1 p.Lys545Glu Uncertain significance Single submitter
- RIOK1 p.Lys563Glu Uncertain significance Single submitter
- RIOK1 p.Met311Val Uncertain significance Single submitter
- RIOK1 p.Met314Ile Uncertain significance Single submitter
- RIOK1 p.Met376Ile Uncertain significance Single submitter
- RIOK1 p.Thr564Pro Uncertain significance Single submitter
- RIOK1 p.Val337Met Uncertain significance Single submitter
- RIOK1 p.Val378Ala Uncertain significance Single submitter
All RIOK1 variants
Likely benign 7
- p.Arg519Cys Single submitter
- p.Gly62Asp Single submitter
- p.Leu39= Single submitter
- p.Leu79Val Single submitter
- p.Thr525= Single submitter
- p.Thr564Met Single submitter
- p.Val375Ile Single submitter
Uncertain significance 80
- p.Ala260Thr Single submitter ⚠
- p.Ala80Ser Single submitter ⚠
- p.Arg10Trp Single submitter ⚠
- p.Arg148His Single submitter
- p.Arg148Leu Single submitter ⚠
- p.Arg205Lys Single submitter ⚠
- p.Arg301Trp Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asn363Ile Single submitter ⚠
- p.Asn365Asp Single submitter ⚠
- p.Asn365Ile Single submitter ⚠
- p.Asn365Ser Single submitter ⚠
- p.Asn488Lys Single submitter ⚠
- p.Asp17Ala Single submitter ⚠
- p.Asp349Asn Single submitter ⚠
- p.Asp445Asn Single submitter ⚠
- p.Asp454Val Single submitter ⚠
- p.Asp45Gly Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Asp530Tyr Single submitter ⚠
- p.Asp67Glu Single submitter ⚠
- p.Asp68Gly Single submitter ⚠
- p.Cys495Tyr Single submitter ⚠
- p.Gln15Pro Single submitter ⚠
- p.Gln306Pro Single submitter ⚠
- p.Glu487Ala Single submitter ⚠
- p.Glu491Gln Single submitter ⚠
- p.Gly515Glu Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.Gly567Arg Single submitter ⚠
- p.Gly87Arg Single submitter ⚠
- p.His232Leu Single submitter ⚠
- p.His348Arg Single submitter ⚠
- p.His517Arg Single submitter ⚠
- p.His553Arg Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile179Leu Single submitter ⚠
- p.Ile339Ser Single submitter ⚠
- p.Ile447Phe Single submitter ⚠
- p.Ile501Ser Single submitter ⚠
- p.Ile529Thr Single submitter ⚠
- p.Leu122Ile Single submitter ⚠
- p.Leu174Ser Single submitter ⚠
- p.Leu257Pro Single submitter ⚠
- p.Lys150Arg Single submitter ⚠
- p.Lys401Glu Single submitter ⚠
- p.Lys481Gln Single submitter ⚠
- p.Lys545Glu Single submitter ⚠
- p.Lys552Glu Single submitter ⚠
- p.Lys563Glu Single submitter ⚠
- p.Lys565Arg Single submitter ⚠
- p.Met311Val Single submitter ⚠
- p.Met314Ile Single submitter ⚠
- p.Met369Arg Single submitter ⚠
- p.Met369Val Single submitter ⚠
- p.Met376Ile Single submitter ⚠
- p.Met457Leu Single submitter ⚠
- p.Met537Val Single submitter ⚠
- p.Met8Val Single submitter ⚠
- p.Phe356Leu Single submitter ⚠
- p.Pro239Arg Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro388Ser Single submitter ⚠
- p.Ser198Gly Single submitter ⚠
- p.Ser503Ile Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr410Ser Single submitter ⚠
- p.Thr525Met Single submitter ⚠
- p.Thr564Arg Single submitter ⚠
- p.Thr564Pro Single submitter ⚠
- p.Trp72Cys Single submitter ⚠
- p.Tyr3Cys Single submitter ⚠
- p.Tyr440Cys Single submitter ⚠
- p.Tyr440Phe Single submitter ⚠
- p.Val194Ala Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val337Met Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val378Ala Single submitter ⚠