CKM — 67 ClinVar variants
All ClinVar germline CKM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
1 Benign · 3 Likely benign · 63 Uncertain significance
Full CKM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CKM p.Ala214Thr Uncertain significance Single submitter
- CKM p.Ala267Asp Uncertain significance Single submitter
- CKM p.Arg135Gly Uncertain significance Single submitter
- CKM p.Arg135His Uncertain significance Single submitter
- CKM p.Arg148Cys Uncertain significance Single submitter
- CKM p.Arg148Leu Uncertain significance Single submitter
- CKM p.Arg152Gln Uncertain significance Single submitter
- CKM p.Arg209His Uncertain significance Single submitter
- CKM p.Arg215His Uncertain significance Single submitter
- CKM p.Arg96His Uncertain significance Single submitter
- CKM p.Asn163Ser Uncertain significance Single submitter
- CKM p.Asn28His Uncertain significance Single submitter
- CKM p.Asp210Asn Uncertain significance Single submitter
- CKM p.Asp210Glu Uncertain significance Single submitter
- CKM p.Asp213Asn Uncertain significance Single submitter
- CKM p.Asp374Glu Uncertain significance Single submitter
- CKM p.Gln349Arg Uncertain significance Single submitter
- CKM p.Glu19Gly Uncertain significance Single submitter
- CKM p.Glu346Lys Uncertain significance Single submitter
- CKM p.Glu364Gln Uncertain significance Single submitter
- CKM p.Gly206Ser Uncertain significance Single submitter
- CKM p.Gly244Asp Uncertain significance Single submitter
- CKM p.Gly356Asp Uncertain significance Single submitter
- CKM p.Gly99Asp Uncertain significance Single submitter
- CKM p.His276Tyr Uncertain significance Single submitter
- CKM p.Ile217Asn Uncertain significance Single submitter
- CKM p.Lys11Glu Uncertain significance Single submitter
- CKM p.Lys172Thr Uncertain significance Single submitter
- CKM p.Met207Ile Uncertain significance Single submitter
- CKM p.Met360Thr Uncertain significance Single submitter
- CKM p.Met376Ile Uncertain significance Single submitter
- CKM p.Ser303Arg Uncertain significance Single submitter
- CKM p.Ser344Leu Uncertain significance Single submitter
- CKM p.Thr141Pro Uncertain significance Single submitter
- CKM p.Val333Leu Uncertain significance Single submitter
- CKM p.Val336Ala Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CKM p.Arg251Pro Likely benign Multiple submitters
- CKM p.Leu127Val Uncertain significance Multiple submitters
- CKM p.Pro91Ser Uncertain significance Multiple submitters
- CKM p.Ala267Val Uncertain significance Single submitter
- CKM p.Arg314Cys Uncertain significance Single submitter
- CKM p.Arg314Leu Uncertain significance Single submitter
- CKM p.Asp104Glu Uncertain significance Single submitter
- CKM p.Asp189Gly Uncertain significance Single submitter
- CKM p.Asp195Asn Uncertain significance Single submitter
- CKM p.Asp22Asn Uncertain significance Single submitter
- CKM p.Asp55Glu Uncertain significance Single submitter
- CKM p.Gln186Glu Uncertain significance Single submitter
- CKM p.Glu181Gln Uncertain significance Single submitter
- CKM p.Gly98Arg Uncertain significance Single submitter
- CKM p.Leu157Phe Uncertain significance Single submitter
- CKM p.Leu342Met Uncertain significance Single submitter
- CKM p.Lys105Arg Uncertain significance Single submitter
- CKM p.Lys25Glu Uncertain significance Single submitter
- CKM p.Lys40Glu Uncertain significance Single submitter
- CKM p.Met360Ile Uncertain significance Single submitter
- CKM p.Pro102Ser Uncertain significance Single submitter
- CKM p.Ser147Ala Uncertain significance Single submitter
- CKM p.Ser164Gly Uncertain significance Single submitter
- CKM p.Thr108Ala Uncertain significance Single submitter
- CKM p.Thr35Asn Uncertain significance Single submitter
- CKM p.Val131Ile Uncertain significance Single submitter
- CKM p.Val198Met Uncertain significance Single submitter
- CKM p.Val325Met Uncertain significance Single submitter
All CKM variants
Benign 1
- c.349-9G>A Single submitter
Likely benign 3
- p.Arg251Pro Multiple submitters ⚠
- p.Pro21= Single submitter
- p.Ter382Gln Single submitter
Uncertain significance 63
- p.Leu127Val Multiple submitters ⚠
- p.Pro91Ser Multiple submitters ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala267Asp Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Arg135Gly Single submitter ⚠
- p.Arg135His Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg148Leu Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg314Cys Single submitter ⚠
- p.Arg314Leu Single submitter ⚠
- p.Arg96His Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Asn28His Single submitter ⚠
- p.Asp104Glu Single submitter ⚠
- p.Asp189Gly Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp210Asn Single submitter ⚠
- p.Asp210Glu Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp22Asn Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp55Glu Single submitter ⚠
- p.Gln186Glu Single submitter ⚠
- p.Gln349Arg Single submitter ⚠
- p.Glu181Gln Single submitter ⚠
- p.Glu19Gly Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu364Gln Single submitter ⚠
- p.Gly206Ser Single submitter ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly356Asp Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.Gly99Asp Single submitter ⚠
- p.His276Tyr Single submitter ⚠
- p.Ile217Asn Single submitter ⚠
- p.Leu157Phe Single submitter ⚠
- p.Leu342Met Single submitter ⚠
- p.Lys105Arg Single submitter ⚠
- p.Lys11Glu Single submitter ⚠
- p.Lys172Thr Single submitter ⚠
- p.Lys25Glu Single submitter ⚠
- p.Lys40Glu Single submitter ⚠
- p.Met207Ile Single submitter ⚠
- p.Met360Ile Single submitter ⚠
- p.Met360Thr Single submitter ⚠
- p.Met376Ile Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Ser147Ala Single submitter ⚠
- p.Ser164Gly Single submitter ⚠
- p.Ser303Arg Single submitter ⚠
- p.Ser344Leu Single submitter ⚠
- p.Thr108Ala Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr35Asn Single submitter ⚠
- p.Val131Ile Single submitter ⚠
- p.Val198Met Single submitter ⚠
- p.Val325Met Single submitter ⚠
- p.Val333Leu Single submitter ⚠
- p.Val336Ala Single submitter ⚠