CKLF — 12 ClinVar variants
All ClinVar germline CKLF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Benign · 1 Likely benign · 10 Uncertain significance
Full CKLF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CKLF p.Ala126Val Uncertain significance Single submitter
- CKLF p.Asp124Glu Uncertain significance Single submitter
- CKLF p.Asp124Gly Uncertain significance Single submitter
- CKLF p.Leu152Ser Uncertain significance Single submitter
- CKLF p.Thr103Asn Uncertain significance Single submitter
- CKLF p.Thr105Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CKLF variants
Benign 1
- p.Val145= Multiple submitters
Likely benign 1
- p.Thr107Ile Single submitter
Uncertain significance 10
- p.Ala126Val Single submitter ⚠
- p.Arg130Gly Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp124Gly Single submitter ⚠
- p.Gly125Arg Single submitter ⚠
- p.Leu152Ser Single submitter ⚠
- p.Phe113Ser Single submitter ⚠
- p.Thr103Asn Single submitter ⚠
- p.Thr105Ala Single submitter ⚠
- p.Val96Met Single submitter ⚠