CCS — 42 ClinVar variants
All ClinVar germline CCS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 2 Likely benign · 39 Uncertain significance
Full CCS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCS p.Ala260Ser Uncertain significance Single submitter
- CCS p.Ala260Thr Uncertain significance Single submitter
- CCS p.Arg163Gly Uncertain significance Single submitter
- CCS p.Arg163Leu Uncertain significance Single submitter
- CCS p.Arg264Gln Uncertain significance Single submitter
- CCS p.Glu123Lys Uncertain significance Single submitter
- CCS p.Glu186Gly Uncertain significance Single submitter
- CCS p.Gly101Arg Uncertain significance Single submitter
- CCS p.Gly117Arg Uncertain significance Single submitter
- CCS p.Gly248Ala Uncertain significance Single submitter
- CCS p.Gly263Ala Uncertain significance Single submitter
- CCS p.Ile259Val Uncertain significance Single submitter
- CCS p.Leu108Val Uncertain significance Single submitter
- CCS p.Leu137Pro Uncertain significance Single submitter
- CCS p.Ser221Ala Uncertain significance Single submitter
- CCS p.Val53Glu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CCS p.Ala173Thr Uncertain significance Single submitter
- CCS p.Ala179Thr Uncertain significance Single submitter
- CCS p.Ala234Thr Uncertain significance Single submitter
- CCS p.Arg163Gln Uncertain significance Single submitter
- CCS p.Arg178Cys Likely benign Single submitter
- CCS p.Arg209Gln Uncertain significance Single submitter
- CCS p.Arg224Ser Uncertain significance Single submitter
- CCS p.Arg30His Uncertain significance Single submitter
- CCS p.Arg71Trp Uncertain significance Single submitter
- CCS p.Asn239Ser Uncertain significance Single submitter
- CCS p.Asp192Asn Uncertain significance Single submitter
- CCS p.Glu123Asp Uncertain significance Single submitter
- CCS p.Gly228Ala Uncertain significance Single submitter
- CCS p.His212Gln Uncertain significance Single submitter
- CCS p.Leu11His Uncertain significance Single submitter
- CCS p.Leu214Phe Uncertain significance Single submitter
- CCS p.Met183Thr Uncertain significance Single submitter
- CCS p.Pro150Leu Uncertain significance Single submitter
- CCS p.Pro213Ser Uncertain significance Single submitter
- CCS p.Thr69Met Uncertain significance Single submitter
- CCS p.Val103Leu Uncertain significance Single submitter
- CCS p.Val36Gly Uncertain significance Single submitter
-
CCS p.Arg163Trp
Uncertain significance
No assertion criteria
neurodegenerative disease
All CCS variants
Benign 1
- p.Ala268= No assertion criteria CCS-related disorder
Likely benign 2
- p.Arg178Cys Single submitter ⚠
- p.Leu93= No assertion criteria CCS-related disorder
Uncertain significance 39
- c.567+1G>C Single submitter
- p.Ala173Thr Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala234Thr Single submitter ⚠
- p.Ala260Ser Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg163Gly Single submitter ⚠
- p.Arg163Leu Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg224Ser Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg30His Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Asn239Ser Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Glu123Asp Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu186Gly Single submitter ⚠
- p.Gly101Arg Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly228Ala Single submitter ⚠
- p.Gly248Ala Single submitter ⚠
- p.Gly263Ala Single submitter ⚠
- p.His212Gln Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Leu108Val Single submitter ⚠
- p.Leu11His Single submitter ⚠
- p.Leu137Pro Single submitter ⚠
- p.Leu214Phe Single submitter ⚠
- p.Met183Thr Single submitter ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro213Ser Single submitter ⚠
- p.Ser221Ala Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Val103Leu Single submitter ⚠
- p.Val36Gly Single submitter ⚠
- p.Val53Glu Single submitter ⚠
- p.Arg163Trp No assertion criteria neurodegenerative disease ⚠