CRKL — 53 ClinVar variants
All ClinVar germline CRKL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Conflicting · 3 Benign · 22 Likely benign · 27 Uncertain significance
Full CRKL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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.
- CRKL p.Ala226Val Uncertain significance Multiple submitters
- CRKL p.Arg169Gln Uncertain significance Multiple submitters
- CRKL p.Glu301Asp Uncertain significance Single submitter
- CRKL p.Glu303Gln Uncertain significance Single submitter
- CRKL p.Gly281Arg Uncertain significance Single submitter
- CRKL p.Ile73Met Uncertain significance Single submitter
- CRKL p.Met35Ile Uncertain significance Single submitter
- CRKL p.Met35Val Uncertain significance Single submitter
- CRKL p.Pro18Ser Uncertain significance Single submitter
- CRKL p.Tyr48Cys Uncertain significance Single submitter
- CRKL p.Val113Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CRKL p.Asn137Ser Uncertain significance Multiple submitters
- CRKL p.Ile263Thr Uncertain significance Multiple submitters
- CRKL p.Val178Ile Uncertain significance Multiple submitters
- CRKL p.Asn117Lys Uncertain significance Single submitter
- CRKL p.Gln22His Uncertain significance Single submitter
- CRKL p.Leu131Val Uncertain significance Single submitter
- CRKL p.Pro45Leu Uncertain significance Single submitter
- CRKL p.Ser185Leu Uncertain significance Single submitter
- CRKL p.Ser2Phe Uncertain significance Single submitter
- CRKL p.Thr97Ala Uncertain significance Single submitter
-
CRKL p.Leu118Arg
Uncertain significance
No assertion criteria
CRKL-related disorder
All CRKL variants
Conflicting classifications of pathogenicity 1
- p.Asn280= Single submitter
Benign 3
- p.Gly221Ser Multiple submitters
- p.Ser12= Multiple submitters
- c.778-20T>C Single submitter
Likely benign 22
- c.311+12C>T Single submitter
- c.311+13C>T Single submitter
- c.311+19C>A Single submitter
- p.Ala13= Single submitter
- p.Ala208= Single submitter
- p.Ala83= Single submitter
- p.Asp141= Single submitter
- p.Asp300= Single submitter
- p.Gly30= Single submitter
- p.His187= Single submitter
- p.Ile263= Single submitter
- p.Pro101= Single submitter
- p.Ser184= Single submitter
- p.Ser220= Single submitter
- p.Ser42= Single submitter
- p.Ser9= Single submitter
- p.Thr233= Single submitter
- p.Tyr198= Single submitter
- p.Tyr207= Single submitter
- p.Val151= Single submitter
- p.Val178= Single submitter
- p.Val58= Single submitter
Uncertain significance 27
- p.Ala226Val Multiple submitters ⚠
- p.Arg169Gln Multiple submitters ⚠
- p.Asn137Ser Multiple submitters ⚠
- p.Ile263Thr Multiple submitters ⚠
- p.Val178Ile Multiple submitters ⚠
- c.311+2T>C Single submitter
- c.311+6C>T Single submitter
- c.777+6A>G Single submitter
- p.Arg27fs Single submitter
- p.Asn117Lys Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Glu301Asp Single submitter ⚠
- p.Glu303Gln Single submitter ⚠
- p.Gly281Arg Single submitter ⚠
- p.Ile73Met Single submitter ⚠
- p.Leu131Val Single submitter ⚠
- p.Met35Ile Single submitter ⚠
- p.Met35Val Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Ser185Leu Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Thr97Ala Single submitter ⚠
- p.Tyr48Cys Single submitter ⚠
- p.Tyr48fs Single submitter
- p.Val113Ile Single submitter ⚠
- p.Leu118Arg No assertion criteria CRKL-related disorder ⚠