RPS6 — 26 ClinVar variants
All ClinVar germline RPS6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
2 Benign · 24 Uncertain significance
Full RPS6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPS6 p.Gln248His Uncertain significance Single submitter
- RPS6 p.Glu226Gly Uncertain significance Single submitter
- RPS6 p.Leu111Phe Uncertain significance Single submitter
- RPS6 p.Leu213Phe Uncertain significance Single submitter
- RPS6 p.Leu76Ile Uncertain significance Single submitter
- RPS6 p.Lys172Glu Uncertain significance Single submitter
- RPS6 p.Ser148Phe Uncertain significance Single submitter
- RPS6 p.Ser247Asn Uncertain significance Single submitter
- RPS6 p.Ser82Cys Uncertain significance Single submitter
- RPS6 p.Thr199Ser Uncertain significance Single submitter
- RPS6 p.Tyr28Cys Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- RPS6 p.Ala37Val Uncertain significance Single submitter
- RPS6 p.Arg190Trp Uncertain significance Single submitter
- RPS6 p.Arg191His Uncertain significance Single submitter
- RPS6 p.Asn146Ser Uncertain significance Single submitter
- RPS6 p.Asn163Ser Uncertain significance Single submitter
- RPS6 p.Ile121Val Uncertain significance Single submitter
- RPS6 p.Leu41Val Uncertain significance Single submitter
- RPS6 p.Lys143Gln Uncertain significance Single submitter
- RPS6 p.Lys58Arg Uncertain significance Single submitter
- RPS6 p.Thr26Ala Uncertain significance Single submitter
- RPS6 p.Tyr28Phe Uncertain significance Single submitter
-
RPS6 p.Arg232His
Uncertain significance
No assertion criteria
hemimegalencephaly
All RPS6 variants
Benign 2
- c.350-8C>G Single submitter
- c.655-7T>C Single submitter
Uncertain significance 24
- p.Ala37Val Single submitter ⚠
- p.Arg190Trp Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Gln248His Single submitter ⚠
- p.Glu226Gly Single submitter ⚠
- p.Ile121Val Single submitter ⚠
- p.Leu111Phe Single submitter ⚠
- p.Leu124Val Single submitter
- p.Leu213Phe Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Leu76Ile Single submitter ⚠
- p.Lys143Gln Single submitter ⚠
- p.Lys172Glu Single submitter ⚠
- p.Lys58Arg Single submitter ⚠
- p.Ser148Phe Single submitter ⚠
- p.Ser247Asn Single submitter ⚠
- p.Ser82Cys Single submitter ⚠
- p.Thr199Ser Single submitter ⚠
- p.Thr26Ala Single submitter ⚠
- p.Tyr28Cys Single submitter ⚠
- p.Tyr28Phe Single submitter ⚠
- p.Arg232His No assertion criteria hemimegalencephaly ⚠