RIOK3 — 58 ClinVar variants
All ClinVar germline RIOK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 2 Likely benign · 55 Uncertain significance
Full RIOK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIOK3 p.Ala483Val Uncertain significance Single submitter
- RIOK3 p.Ala62Ser Uncertain significance Single submitter
- RIOK3 p.Ala94Thr Uncertain significance Single submitter
- RIOK3 p.Arg219Leu Uncertain significance Single submitter
- RIOK3 p.Arg302His Uncertain significance Single submitter
- RIOK3 p.Arg315Cys Uncertain significance Single submitter
- RIOK3 p.Arg326His Uncertain significance Single submitter
- RIOK3 p.Arg341Thr Uncertain significance Single submitter
- RIOK3 p.Arg441Trp Uncertain significance Single submitter
- RIOK3 p.Arg444Gly Uncertain significance Single submitter
- RIOK3 p.Arg462Gln Uncertain significance Single submitter
- RIOK3 p.Asn335Ser Uncertain significance Single submitter
- RIOK3 p.Gln395Arg Uncertain significance Single submitter
- RIOK3 p.Glu429Lys Uncertain significance Single submitter
- RIOK3 p.Glu457Asp Uncertain significance Single submitter
- RIOK3 p.Glu50Gln Uncertain significance Single submitter
- RIOK3 p.Glu52Ala Uncertain significance Single submitter
- RIOK3 p.Gly453Ala Uncertain significance Single submitter
- RIOK3 p.Ile162Val Uncertain significance Single submitter
- RIOK3 p.Ile253Val Uncertain significance Single submitter
- RIOK3 p.Ile422Val Uncertain significance Single submitter
- RIOK3 p.Ile67Val Uncertain significance Single submitter
- RIOK3 p.Leu352Met Uncertain significance Single submitter
- RIOK3 p.Leu377Phe Uncertain significance Single submitter
- RIOK3 p.Lys281Glu Uncertain significance Single submitter
- RIOK3 p.Pro147Leu Uncertain significance Single submitter
- RIOK3 p.Pro27Ala Uncertain significance Single submitter
- RIOK3 p.Pro368Ser Uncertain significance Single submitter
- RIOK3 p.Pro433Leu Uncertain significance Single submitter
- RIOK3 p.Ser110Ala Uncertain significance Single submitter
- RIOK3 p.Ser20Arg Uncertain significance Single submitter
- RIOK3 p.Ser280Cys Uncertain significance Single submitter
- RIOK3 p.Ser75Cys Uncertain significance Single submitter
- RIOK3 p.Tyr269Cys Uncertain significance Single submitter
- RIOK3 p.Tyr397Cys Uncertain significance Single submitter
- RIOK3 p.Tyr517Cys Uncertain significance Single submitter
- RIOK3 p.Val148Ala Uncertain significance Single submitter
- RIOK3 p.Val233Ile Uncertain significance Single submitter
- RIOK3 p.Val468Leu Uncertain significance Single submitter
- RIOK3 p.Val496Ile Uncertain significance Single submitter
- RIOK3 p.Val55Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- RIOK3 p.Arg117Gln Uncertain significance Single submitter
- RIOK3 p.Arg315His Uncertain significance Single submitter
- RIOK3 p.Arg322His Uncertain significance Single submitter
- RIOK3 p.Gly343Arg Uncertain significance Single submitter
- RIOK3 p.Met339Ile Uncertain significance Single submitter
- RIOK3 p.Phe440Leu Uncertain significance Single submitter
All RIOK3 variants
Benign 1
- c.1453-9T>C Multiple submitters
Likely benign 2
- p.His434= Single submitter
- p.Leu515Val Single submitter
Uncertain significance 55
- p.Ala385Val Single submitter
- p.Ala483Val Single submitter ⚠
- p.Ala62Ser Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg117Gln Single submitter ⚠
- p.Arg219His Single submitter
- p.Arg219Leu Single submitter ⚠
- p.Arg302His Single submitter ⚠
- p.Arg315Cys Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg341Thr Single submitter ⚠
- p.Arg441Trp Single submitter ⚠
- p.Arg444Gly Single submitter ⚠
- p.Arg462Gln Single submitter ⚠
- p.Asn200Ser Single submitter
- p.Asn335Ser Single submitter ⚠
- p.Asp494Val Single submitter
- p.Gln135Lys Single submitter
- p.Gln395Arg Single submitter ⚠
- p.Glu429Lys Single submitter ⚠
- p.Glu457Asp Single submitter ⚠
- p.Glu50Gln Single submitter ⚠
- p.Glu52Ala Single submitter ⚠
- p.Gly343Arg Single submitter ⚠
- p.Gly453Ala Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Ile422Val Single submitter ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu352Met Single submitter ⚠
- p.Leu377Phe Single submitter ⚠
- p.Leu482fs Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- p.Lys281Glu Single submitter ⚠
- p.Met339Ile Single submitter ⚠
- p.Phe440Leu Single submitter ⚠
- p.Pro121Ser Single submitter
- p.Pro147Leu Single submitter ⚠
- p.Pro23Leu Single submitter
- p.Pro27Ala Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro433Leu Single submitter ⚠
- p.Ser110Ala Single submitter ⚠
- p.Ser20Arg Single submitter ⚠
- p.Ser280Cys Single submitter ⚠
- p.Ser75Cys Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Tyr397Cys Single submitter ⚠
- p.Tyr517Cys Single submitter ⚠
- p.Val148Ala Single submitter ⚠
- p.Val233Ile Single submitter ⚠
- p.Val468Leu Single submitter ⚠
- p.Val496Ile Single submitter ⚠
- p.Val55Ile Single submitter ⚠