RYK — 31 ClinVar variants
All ClinVar germline RYK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Conflicting · 10 Benign · 5 Likely benign · 15 Uncertain significance
Full RYK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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RYK p.Ile325Leu
Conflicting
Single submitter
RYK-related disorder
Predictors lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 6
The independent predictors disagree with each other — read with care.
- RYK p.Asp287Glu Uncertain significance Single submitter
- RYK p.Lys480Arg Uncertain significance Single submitter
- RYK p.Phe183Leu Uncertain significance Single submitter
- RYK p.Phe229Leu Uncertain significance Single submitter
- RYK p.Ser438Pro Uncertain significance Single submitter
- RYK p.Ser521Arg Uncertain significance Single submitter
All RYK variants
Conflicting classifications of pathogenicity 1
- p.Ile325Leu Single submitter RYK-related disorder ⚠
Benign 10
- c.233-4C>G Multiple submitters
- p.Ala4fs Multiple submitters RYK-related disorder
- p.Arg51Trp Multiple submitters
- p.Lys464Arg Multiple submitters
- c.1015+6T>G Single submitter
- p.Ala4= Single submitter
- p.Ala49= Single submitter RYK-related disorder
- p.Gly20_Leu21insTer Single submitter
- p.Leu21= Single submitter
- p.Pro27_Pro28dup Single submitter
Likely benign 5
- c.890-8C>T Single submitter
- p.Leu313= Single submitter RYK-related disorder
- p.Lys192Arg Single submitter RYK-related disorder
- p.Pro50Leu Single submitter RYK-related disorder
- p.Thr184= Single submitter
Uncertain significance 15
- c.355-4703C>G Single submitter orofacial cleft 1
- p.Ala361fs Single submitter
- p.Arg424Ter Single submitter
- p.Asp287Glu Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Ile410Val Single submitter ⚠
- p.Leu273= Single submitter RYK-related disorder
- p.Lys480Arg Single submitter ⚠
- p.Phe183Leu Single submitter ⚠
- p.Phe229Leu Single submitter ⚠
- p.Pro52Arg Single submitter ⚠
- p.Pro548Ser Single submitter ⚠
- p.Ser438Pro Single submitter ⚠
- p.Ser521Arg Single submitter ⚠
- p.Thr312Ser Single submitter ⚠