CCNY — 30 ClinVar variants
All ClinVar germline CCNY variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely benign · 29 Uncertain significance
Full CCNY gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCNY p.Ala124Thr Uncertain significance Single submitter
- CCNY p.Arg173Trp Uncertain significance Single submitter
- CCNY p.Arg176Trp Uncertain significance Single submitter
- CCNY p.Arg279His Uncertain significance Single submitter
- CCNY p.Arg321Lys Uncertain significance Single submitter
- CCNY p.Gln170His Uncertain significance Single submitter
- CCNY p.Glu156Lys Uncertain significance Single submitter
- CCNY p.Glu24Gln Uncertain significance Single submitter
- CCNY p.Glu35Asp Uncertain significance Single submitter
- CCNY p.Gly38Val Uncertain significance Single submitter
- CCNY p.His89Arg Uncertain significance Single submitter
- CCNY p.His89Pro Uncertain significance Single submitter
- CCNY p.Leu141Pro Uncertain significance Single submitter
- CCNY p.Leu53Val Uncertain significance Single submitter
- CCNY p.Lys169Arg Uncertain significance Single submitter
- CCNY p.Lys97Arg Uncertain significance Single submitter
- CCNY p.Pro28Ala Uncertain significance Single submitter
- CCNY p.Pro293Ala Uncertain significance Single submitter
- CCNY p.Ser21Tyr Uncertain significance Single submitter
- CCNY p.Ser269Gly Uncertain significance Single submitter
- CCNY p.Ser306Cys Uncertain significance Single submitter
- CCNY p.Thr103Ala Uncertain significance Single submitter
- CCNY p.Val157Met Uncertain significance Single submitter
- CCNY p.Val175Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CCNY variants
Likely benign 1
- p.Ile190= Single submitter
Uncertain significance 29
- p.Ala124Thr Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg173Trp Single submitter ⚠
- p.Arg176Trp Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg321Lys Single submitter ⚠
- p.Arg323Ser Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Asp143Gly Single submitter ⚠
- p.Asp328Gly Single submitter ⚠
- p.Gln170His Single submitter ⚠
- p.Glu156Lys Single submitter ⚠
- p.Glu24Gln Single submitter ⚠
- p.Glu35Asp Single submitter ⚠
- p.Gly38Val Single submitter ⚠
- p.His89Arg Single submitter ⚠
- p.His89Pro Single submitter ⚠
- p.Leu141Pro Single submitter ⚠
- p.Leu53Val Single submitter ⚠
- p.Lys169Arg Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Pro28Ala Single submitter ⚠
- p.Pro293Ala Single submitter ⚠
- p.Ser21Tyr Single submitter ⚠
- p.Ser269Gly Single submitter ⚠
- p.Ser306Cys Single submitter ⚠
- p.Thr103Ala Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val175Ile Single submitter ⚠