RIOK2 — 78 ClinVar variants
All ClinVar germline RIOK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
4 Benign · 3 Likely benign · 71 Uncertain significance
Full RIOK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIOK2 p.Ala185Ser Uncertain significance Single submitter
- RIOK2 p.Ala490Thr Uncertain significance Single submitter
- RIOK2 p.Arg155Cys Uncertain significance Single submitter
- RIOK2 p.Arg276Cys Uncertain significance Single submitter
- RIOK2 p.Arg276Ser Uncertain significance Single submitter
- RIOK2 p.Arg463Ser Uncertain significance Single submitter
- RIOK2 p.Arg520Gln Uncertain significance Single submitter
- RIOK2 p.Arg533His Uncertain significance Single submitter
- RIOK2 p.Arg66Cys Uncertain significance Single submitter
- RIOK2 p.Arg66His Uncertain significance Single submitter
- RIOK2 p.Asn182Ser Uncertain significance Single submitter
- RIOK2 p.Asn29Asp Uncertain significance Single submitter
- RIOK2 p.Asn421His Uncertain significance Single submitter
- RIOK2 p.Asn459Ser Uncertain significance Single submitter
- RIOK2 p.Asp294Tyr Uncertain significance Single submitter
- RIOK2 p.Asp297Gly Uncertain significance Single submitter
- RIOK2 p.Asp323His Uncertain significance Single submitter
- RIOK2 p.Asp372Gly Uncertain significance Single submitter
- RIOK2 p.Glu115Gln Uncertain significance Single submitter
- RIOK2 p.Glu116Ala Uncertain significance Single submitter
- RIOK2 p.Glu280Lys Uncertain significance Single submitter
- RIOK2 p.Glu353Gly Uncertain significance Single submitter
- RIOK2 p.Gly2Glu Uncertain significance Single submitter
- RIOK2 p.Gly35Ser Uncertain significance Single submitter
- RIOK2 p.Gly405Arg Uncertain significance Single submitter
- RIOK2 p.Gly72Ala Uncertain significance Single submitter
- RIOK2 p.Gly98Val Uncertain significance Single submitter
- RIOK2 p.His226Arg Uncertain significance Single submitter
- RIOK2 p.Ile216Thr Uncertain significance Single submitter
- RIOK2 p.Ile32Leu Uncertain significance Single submitter
- RIOK2 p.Ile528Met Uncertain significance Single submitter
- RIOK2 p.Leu168Ser Uncertain significance Single submitter
- RIOK2 p.Leu455Ser Uncertain significance Single submitter
- RIOK2 p.Leu544Val Uncertain significance Single submitter
- RIOK2 p.Lys267Glu Uncertain significance Single submitter
- RIOK2 p.Lys307Arg Uncertain significance Single submitter
- RIOK2 p.Met101Arg Uncertain significance Single submitter
- RIOK2 p.Met12Val Uncertain significance Single submitter
- RIOK2 p.Met274Ile Uncertain significance Single submitter
- RIOK2 p.Met27Val Uncertain significance Single submitter
- RIOK2 p.Phe229Val Uncertain significance Single submitter
- RIOK2 p.Phe272Cys Uncertain significance Single submitter
- RIOK2 p.Pro174Thr Uncertain significance Single submitter
- RIOK2 p.Pro34Ser Uncertain significance Single submitter
- RIOK2 p.Pro464Leu Uncertain significance Single submitter
- RIOK2 p.Ser380Gly Uncertain significance Single submitter
- RIOK2 p.Ser542Thr Uncertain significance Single submitter
- RIOK2 p.Ser548Asn Uncertain significance Single submitter
- RIOK2 p.Tyr445Cys Uncertain significance Single submitter
- RIOK2 p.Val33Ile Uncertain significance Single submitter
- RIOK2 p.Val341Leu Uncertain significance Single submitter
- RIOK2 p.Val407Ile Uncertain significance Single submitter
- RIOK2 p.Val438Ala Uncertain significance Single submitter
- RIOK2 p.Val505Met Uncertain significance Single submitter
- RIOK2 p.Val57Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- RIOK2 p.Ala302Val Uncertain significance Single submitter
- RIOK2 p.Arg534Thr Uncertain significance Single submitter
- RIOK2 p.Asn147Asp Uncertain significance Single submitter
- RIOK2 p.Asn257His Uncertain significance Single submitter
- RIOK2 p.Asp289Gly Uncertain significance Single submitter
- RIOK2 p.Gln100Leu Uncertain significance Single submitter
- RIOK2 p.His144Arg Benign Single submitter
- RIOK2 p.His144Tyr Uncertain significance Single submitter
- RIOK2 p.Leu296Val Uncertain significance Single submitter
- RIOK2 p.Lys504Asn Uncertain significance Single submitter
- RIOK2 p.Met27Thr Uncertain significance Single submitter
- RIOK2 p.Pro256Ala Uncertain significance Single submitter
- RIOK2 p.Val217Leu Uncertain significance Single submitter
All RIOK2 variants
Benign 4
- c.1495-6T>C Single submitter
- p.Arg507His Single submitter
- p.His144Arg Single submitter ⚠
- p.Leu224= Single submitter
Likely benign 3
- p.Arg356Gln Single submitter
- p.Ile326Thr Single submitter
- p.Ser456= Single submitter
Uncertain significance 71
- p.Ala185Ser Single submitter ⚠
- p.Ala302Val Single submitter ⚠
- p.Ala490Thr Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg276His Single submitter
- p.Arg276Ser Single submitter ⚠
- p.Arg463Ser Single submitter ⚠
- p.Arg520Gln Single submitter ⚠
- p.Arg533His Single submitter ⚠
- p.Arg534Thr Single submitter ⚠
- p.Arg66Cys Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Asn147Asp Single submitter ⚠
- p.Asn182Ser Single submitter ⚠
- p.Asn257His Single submitter ⚠
- p.Asn29Asp Single submitter ⚠
- p.Asn421His Single submitter ⚠
- p.Asn459Ser Single submitter ⚠
- p.Asp289Gly Single submitter ⚠
- p.Asp294Tyr Single submitter ⚠
- p.Asp297Gly Single submitter ⚠
- p.Asp323His Single submitter ⚠
- p.Asp372Gly Single submitter ⚠
- p.Gln100Leu Single submitter ⚠
- p.Gln119His Single submitter
- p.Glu115Gln Single submitter ⚠
- p.Glu116Ala Single submitter ⚠
- p.Glu280Lys Single submitter ⚠
- p.Glu353Gly Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.Gly35Ser Single submitter ⚠
- p.Gly405Arg Single submitter ⚠
- p.Gly72Ala Single submitter ⚠
- p.Gly98Val Single submitter ⚠
- p.His144Tyr Single submitter ⚠
- p.His226Arg Single submitter ⚠
- p.His46Arg Single submitter
- p.Ile216Thr Single submitter ⚠
- p.Ile32Leu Single submitter ⚠
- p.Ile38Thr Single submitter
- p.Ile528Met Single submitter ⚠
- p.Leu168Ser Single submitter ⚠
- p.Leu296Val Single submitter ⚠
- p.Leu455Ser Single submitter ⚠
- p.Leu544Val Single submitter ⚠
- p.Lys267Glu Single submitter ⚠
- p.Lys307Arg Single submitter ⚠
- p.Lys504Asn Single submitter ⚠
- p.Met101Arg Single submitter ⚠
- p.Met12Val Single submitter ⚠
- p.Met274Ile Single submitter ⚠
- p.Met27Thr Single submitter ⚠
- p.Met27Val Single submitter ⚠
- p.Phe229Val Single submitter ⚠
- p.Phe272Cys Single submitter ⚠
- p.Pro174Thr Single submitter ⚠
- p.Pro256Ala Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro464Leu Single submitter ⚠
- p.Ser380Gly Single submitter ⚠
- p.Ser542Thr Single submitter ⚠
- p.Ser548Asn Single submitter ⚠
- p.Tyr445Cys Single submitter ⚠
- p.Val217Leu Single submitter ⚠
- p.Val33Ile Single submitter ⚠
- p.Val341Leu Single submitter ⚠
- p.Val407Ile Single submitter ⚠
- p.Val438Ala Single submitter ⚠
- p.Val505Met Single submitter ⚠
- p.Val57Ala Single submitter ⚠