RIMKLA — 34 ClinVar variants
All ClinVar germline RIMKLA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
34 Uncertain significance
Full RIMKLA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RIMKLA p.Ala296Val Uncertain significance Single submitter
- RIMKLA p.Arg101His Uncertain significance Single submitter
- RIMKLA p.Arg157Gln Uncertain significance Single submitter
- RIMKLA p.Arg181His Uncertain significance Single submitter
- RIMKLA p.Arg215His Uncertain significance Single submitter
- RIMKLA p.Arg215Pro Uncertain significance Single submitter
- RIMKLA p.Arg359Gln Uncertain significance Single submitter
- RIMKLA p.Asn107Ser Uncertain significance Single submitter
- RIMKLA p.Asn305Asp Uncertain significance Single submitter
- RIMKLA p.Asp34Glu Uncertain significance Single submitter
- RIMKLA p.Asp360Gly Uncertain significance Single submitter
- RIMKLA p.Cys329Tyr Uncertain significance Single submitter
- RIMKLA p.Gln189Arg Uncertain significance Single submitter
- RIMKLA p.Ile200Val Uncertain significance Single submitter
- RIMKLA p.Leu317Pro Uncertain significance Single submitter
- RIMKLA p.Leu41Arg Uncertain significance Single submitter
- RIMKLA p.Leu41Val Uncertain significance Single submitter
- RIMKLA p.Met372Ile Uncertain significance Single submitter
- RIMKLA p.Phe37Cys Uncertain significance Single submitter
- RIMKLA p.Pro77Thr Uncertain significance Single submitter
- RIMKLA p.Ser318Pro Uncertain significance Single submitter
- RIMKLA p.Thr347Ile Uncertain significance Single submitter
- RIMKLA p.Thr365Ala Uncertain significance Single submitter
- RIMKLA p.Tyr340Cys Uncertain significance Single submitter
- RIMKLA p.Val99Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- RIMKLA p.Arg181Cys Uncertain significance Single submitter
- RIMKLA p.Asn100Ser Uncertain significance Single submitter
- RIMKLA p.Leu147Val Uncertain significance Single submitter
- RIMKLA p.Leu173Phe Uncertain significance Single submitter
- RIMKLA p.Phe129Ser Uncertain significance Single submitter
- RIMKLA p.Pro304Gln Uncertain significance Single submitter
- RIMKLA p.Pro75His Uncertain significance Single submitter
- RIMKLA p.Val192Met Uncertain significance Single submitter
All RIMKLA variants
Uncertain significance 34
- p.Ala296Val Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg215Pro Single submitter ⚠
- p.Arg359Gln Single submitter ⚠
- p.Asn100Ser Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn305Asp Single submitter ⚠
- p.Asp34Glu Single submitter ⚠
- p.Asp360Gly Single submitter ⚠
- p.Cys329Tyr Single submitter ⚠
- p.Gln189Arg Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Leu147Val Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Leu317Pro Single submitter ⚠
- p.Leu41Arg Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Met372Ile Single submitter ⚠
- p.Phe129Ser Single submitter ⚠
- p.Phe37Cys Single submitter ⚠
- p.Pro304Gln Single submitter ⚠
- p.Pro75His Single submitter ⚠
- p.Pro77Thr Single submitter ⚠
- p.Ser318Pro Single submitter ⚠
- p.Thr114Met Single submitter
- p.Thr347Ile Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Tyr340Cys Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val99Ile Single submitter ⚠