CCDC169 — 21 ClinVar variants
All ClinVar germline CCDC169 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 20 Uncertain significance
Full CCDC169 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC169 p.Arg102Gly Uncertain significance Single submitter
- CCDC169 p.Arg39Ser Uncertain significance Single submitter
- CCDC169 p.Arg5Ile Uncertain significance Single submitter
- CCDC169 p.Asn8Ser Uncertain significance Single submitter
- CCDC169 p.His40Asp Uncertain significance Single submitter
- CCDC169 p.Ile35Thr Uncertain significance Single submitter
- CCDC169 p.Leu21Val Uncertain significance Single submitter
- CCDC169 p.Leu38Pro Uncertain significance Single submitter
- CCDC169 p.Lys41Asn Uncertain significance Single submitter
- CCDC169 p.Tyr7Cys Uncertain significance Single submitter
- CCDC169 p.Val77Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CCDC169 variants
Likely benign 1
- p.His87Arg Single submitter
Uncertain significance 20
- p.Arg102Gly Single submitter ⚠
- p.Arg39Ser Single submitter ⚠
- p.Arg5Ile Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Cys215Trp Single submitter
- p.Gln236His Single submitter
- p.Gly201Arg Single submitter
- p.Gly206Val Single submitter
- p.His40Asp Single submitter ⚠
- p.Ile35Thr Single submitter ⚠
- p.Leu21Val Single submitter ⚠
- p.Leu38Pro Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Lys219Gln Single submitter
- p.Lys41Asn Single submitter ⚠
- p.Ser241Gly Single submitter
- p.Trp222Arg Single submitter
- p.Tyr7Cys Single submitter ⚠
- p.Val77Ile Single submitter ⚠