CCNP — 54 ClinVar variants
All ClinVar germline CCNP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
6 Likely benign · 48 Uncertain significance
Full CCNP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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.
- CCNP p.Ala173Ser Uncertain significance Single submitter
- CCNP p.Ala243Val Uncertain significance Single submitter
- CCNP p.Ala265Thr Uncertain significance Single submitter
- CCNP p.Ala37Ser Uncertain significance Single submitter
- CCNP p.Ala81Ser Uncertain significance Single submitter
- CCNP p.Arg101Pro Uncertain significance Single submitter
- CCNP p.Arg108Ser Uncertain significance Single submitter
- CCNP p.Arg144His Uncertain significance Single submitter
- CCNP p.Arg20Pro Uncertain significance Single submitter
- CCNP p.Arg260Cys Uncertain significance Single submitter
- CCNP p.Arg4Thr Uncertain significance Single submitter
- CCNP p.Arg58Ser Uncertain significance Single submitter
- CCNP p.Asp46Glu Uncertain significance Single submitter
- CCNP p.Glu192Gln Uncertain significance Single submitter
- CCNP p.Gly47Cys Uncertain significance Single submitter
- CCNP p.Gly51Asp Uncertain significance Single submitter
- CCNP p.Met164Ile Uncertain significance Single submitter
- CCNP p.Met303Ile Uncertain significance Single submitter
- CCNP p.Pro25Arg Uncertain significance Single submitter
- CCNP p.Pro293Arg Uncertain significance Single submitter
- CCNP p.Pro293Ser Uncertain significance Single submitter
- CCNP p.Pro63Leu Uncertain significance Single submitter
- CCNP p.Tyr130His Uncertain significance Single submitter
- CCNP p.Val168Ala Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CCNP p.Ala186Val Uncertain significance Single submitter
- CCNP p.Ala68Glu Uncertain significance Single submitter
- CCNP p.Arg101His Uncertain significance Single submitter
- CCNP p.Arg108His Uncertain significance Single submitter
- CCNP p.Arg149Cys Uncertain significance Single submitter
- CCNP p.Arg250Gly Uncertain significance Single submitter
- CCNP p.Arg275Lys Uncertain significance Single submitter
- CCNP p.Asp46Asn Uncertain significance Single submitter
- CCNP p.Cys176Ser Uncertain significance Single submitter
- CCNP p.Cys211Tyr Uncertain significance Single submitter
- CCNP p.Glu246Lys Uncertain significance Single submitter
- CCNP p.Gly154Ser Uncertain significance Single submitter
- CCNP p.Gly73Val Uncertain significance Single submitter
- CCNP p.His204Tyr Uncertain significance Single submitter
- CCNP p.Leu135Met Uncertain significance Single submitter
- CCNP p.Phe183Leu Uncertain significance Single submitter
- CCNP p.Pro105Arg Uncertain significance Single submitter
- CCNP p.Pro105Leu Uncertain significance Single submitter
- CCNP p.Pro247Leu Uncertain significance Single submitter
- CCNP p.Ser267Phe Uncertain significance Single submitter
- CCNP p.Tyr130Cys Uncertain significance Single submitter
- CCNP p.Val133Ile Uncertain significance Single submitter
- CCNP p.Val145Ala Uncertain significance Single submitter
- CCNP p.Val168Met Uncertain significance Single submitter
- CCNP p.Val93Met Likely benign Single submitter
-
CCNP p.Ser30Asn
Likely benign
No assertion criteria
CCNP-related disorder
All CCNP variants
Likely benign 6
- p.Ala22Val Single submitter
- p.Gly285Asp Single submitter
- p.Val93Met Single submitter ⚠
- p.Ala142= No assertion criteria CCNP-related disorder
- p.Ala258= No assertion criteria CCNP-related disorder
- p.Ser30Asn No assertion criteria CCNP-related disorder ⚠
Uncertain significance 48
- p.Ala173Ser Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala243Val Single submitter ⚠
- p.Ala265Thr Single submitter ⚠
- p.Ala37Ser Single submitter ⚠
- p.Ala68Glu Single submitter ⚠
- p.Ala81Ser Single submitter ⚠
- p.Arg101His Single submitter ⚠
- p.Arg101Pro Single submitter ⚠
- p.Arg108His Single submitter ⚠
- p.Arg108Ser Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg20Pro Single submitter ⚠
- p.Arg250Gly Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg275Lys Single submitter ⚠
- p.Arg4Thr Single submitter ⚠
- p.Arg58Ser Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Asp46Glu Single submitter ⚠
- p.Cys176Ser Single submitter ⚠
- p.Cys211Tyr Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly47Cys Single submitter ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly73Val Single submitter ⚠
- p.His204Tyr Single submitter ⚠
- p.Leu135Met Single submitter ⚠
- p.Met164Ile Single submitter ⚠
- p.Met303Ile Single submitter ⚠
- p.Phe183Leu Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro293Arg Single submitter ⚠
- p.Pro293Ser Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser267Phe Single submitter ⚠
- p.Tyr130Cys Single submitter ⚠
- p.Tyr130His Single submitter ⚠
- p.Val133Ile Single submitter ⚠
- p.Val145Ala Single submitter ⚠
- p.Val168Ala Single submitter ⚠
- p.Val168Met Single submitter ⚠