CCNC — 19 ClinVar variants
All ClinVar germline CCNC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 17 Uncertain significance
Full CCNC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCNC p.Arg25Cys Uncertain significance Single submitter
- CCNC p.Arg25His Uncertain significance Single submitter
- CCNC p.Asp223Gly Uncertain significance Single submitter
- CCNC p.Gln209His Uncertain significance Single submitter
- CCNC p.Ile15Ser Uncertain significance Single submitter
- CCNC p.Thr252Ala Uncertain significance Single submitter
- CCNC p.Tyr73Cys Uncertain significance Single submitter
- CCNC p.Tyr76Asp Uncertain significance Single submitter
- CCNC p.Val115Ile Uncertain significance Single submitter
- CCNC p.Val91Gly Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CCNC p.Lys256Arg Uncertain significance Single submitter
- CCNC p.Lys256Gln Uncertain significance Single submitter
- CCNC p.Lys56Asn Uncertain significance Single submitter
- CCNC p.Phe195Leu Uncertain significance Single submitter
- CCNC p.Thr186Met Uncertain significance Single submitter
- CCNC p.Tyr122Phe Uncertain significance Single submitter
All CCNC variants
Uncertain significance 17
- p.Arg25Cys Single submitter ⚠
- p.Arg25His Single submitter ⚠
- p.Asp223Gly Single submitter ⚠
- p.Gln209His Single submitter ⚠
- p.Glu36Ter Single submitter autism
- p.Ile15Ser Single submitter ⚠
- p.Lys256Arg Single submitter ⚠
- p.Lys256Gln Single submitter ⚠
- p.Lys56Asn Single submitter ⚠
- p.Phe195Leu Single submitter ⚠
- p.Thr186Met Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Tyr122Phe Single submitter ⚠
- p.Tyr73Cys Single submitter ⚠
- p.Tyr76Asp Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val91Gly Single submitter ⚠