CKB — 33 ClinVar variants
All ClinVar germline CKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
33 Uncertain significance
Full CKB 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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CKB p.Ala175Pro Uncertain significance Single submitter
- CKB p.Arg252Cys Uncertain significance Single submitter
- CKB p.Asn124Ser Uncertain significance Single submitter
- CKB p.Asp18Asn Uncertain significance Single submitter
- CKB p.Asp190Asn Uncertain significance Single submitter
- CKB p.Cys283Gly Uncertain significance Single submitter
- CKB p.His7Tyr Uncertain significance Single submitter
- CKB p.Leu263Phe Uncertain significance Single submitter
- CKB p.Lys304Glu Uncertain significance Single submitter
- CKB p.Pro15Ala Uncertain significance Single submitter
- CKB p.Pro200Ser Uncertain significance Single submitter
- CKB p.Pro212Leu Uncertain significance Single submitter
- CKB p.Pro2Leu Uncertain significance Single submitter
- CKB p.Ser103Gly Uncertain significance Single submitter
- CKB p.Val227Ala Uncertain significance Single submitter
- CKB p.Val336Ile Uncertain significance Single submitter
-
CKB p.Asp189His
Uncertain significance
No assertion criteria
premature menopause
Predictors split 16
The independent predictors disagree with each other — read with care.
- CKB p.Asp113Gly Uncertain significance Single submitter
- CKB p.Asp119Asn Uncertain significance Single submitter
- CKB p.Asp374Asn Uncertain significance Single submitter
- CKB p.Glu19Gln Uncertain significance Single submitter
- CKB p.Gly118Asp Uncertain significance Single submitter
- CKB p.His29Leu Uncertain significance Single submitter
- CKB p.Ile361Thr Uncertain significance Single submitter
- CKB p.Leu115Met Uncertain significance Single submitter
- CKB p.Leu257Val Uncertain significance Single submitter
- CKB p.Leu88Phe Uncertain significance Single submitter
- CKB p.Lys242Asn Uncertain significance Single submitter
- CKB p.Lys45Arg Uncertain significance Single submitter
- CKB p.Phe253Leu Uncertain significance Single submitter
- CKB p.Ser103Asn Uncertain significance Single submitter
- CKB p.Thr35Asn Uncertain significance Single submitter
- CKB p.Tyr269Cys Uncertain significance Single submitter
All CKB variants
Uncertain significance 33
- p.Ala175Pro Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asp113Gly Single submitter ⚠
- p.Asp119Asn Single submitter ⚠
- p.Asp18Asn Single submitter ⚠
- p.Asp190Asn Single submitter ⚠
- p.Asp374Asn Single submitter ⚠
- p.Cys283Gly Single submitter ⚠
- p.Glu19Gln Single submitter ⚠
- p.Gly118Asp Single submitter ⚠
- p.His29Leu Single submitter ⚠
- p.His7Tyr Single submitter ⚠
- p.Ile361Thr Single submitter ⚠
- p.Leu115Met Single submitter ⚠
- p.Leu257Val Single submitter ⚠
- p.Leu263Phe Single submitter ⚠
- p.Leu88Phe Single submitter ⚠
- p.Lys242Asn Single submitter ⚠
- p.Lys304Glu Single submitter ⚠
- p.Lys45Arg Single submitter ⚠
- p.Phe253Leu Single submitter ⚠
- p.Pro15Ala Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Ser103Asn Single submitter ⚠
- p.Ser103Gly Single submitter ⚠
- p.Thr35Asn Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Val227Ala Single submitter ⚠
- p.Val336Ile Single submitter ⚠
- p.Asp189His No assertion criteria premature menopause ⚠