CCDC127 — 45 ClinVar variants
All ClinVar germline CCDC127 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Likely benign · 42 Uncertain significance
Full CCDC127 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC127 p.Ala105Val Uncertain significance Single submitter
- CCDC127 p.Ala18Val Uncertain significance Single submitter
- CCDC127 p.Ala194Ser Uncertain significance Single submitter
- CCDC127 p.Ala194Thr Uncertain significance Single submitter
- CCDC127 p.Ala58Asp Uncertain significance Single submitter
- CCDC127 p.Arg124Gln Uncertain significance Single submitter
- CCDC127 p.Arg124Trp Uncertain significance Single submitter
- CCDC127 p.Arg132Gly Uncertain significance Single submitter
- CCDC127 p.Arg13Gln Uncertain significance Single submitter
- CCDC127 p.Arg13Trp Uncertain significance Single submitter
- CCDC127 p.Arg228His Uncertain significance Single submitter
- CCDC127 p.Arg252Gly Uncertain significance Single submitter
- CCDC127 p.Arg83His Uncertain significance Single submitter
- CCDC127 p.Asn226Ser Uncertain significance Single submitter
- CCDC127 p.Asn81Ser Uncertain significance Single submitter
- CCDC127 p.Asp202Glu Uncertain significance Single submitter
- CCDC127 p.Gln133His Uncertain significance Single submitter
- CCDC127 p.Gln87Arg Uncertain significance Single submitter
- CCDC127 p.Glu104Val Uncertain significance Single submitter
- CCDC127 p.Glu55Ala Uncertain significance Single submitter
- CCDC127 p.Gly208Ser Uncertain significance Single submitter
- CCDC127 p.Lys118Glu Uncertain significance Single submitter
- CCDC127 p.Lys227Arg Uncertain significance Single submitter
- CCDC127 p.Met34Val Uncertain significance Single submitter
- CCDC127 p.Ser24Gly Uncertain significance Single submitter
- CCDC127 p.Thr167Ile Uncertain significance Single submitter
- CCDC127 p.Thr225Ser Uncertain significance Single submitter
- CCDC127 p.Val165Ile Uncertain significance Single submitter
- CCDC127 p.Val192Leu Uncertain significance Single submitter
- CCDC127 p.Val196Ile Uncertain significance Single submitter
- CCDC127 p.Val253Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CCDC127 p.Arg180Cys Uncertain significance Single submitter
- CCDC127 p.Arg183Trp Uncertain significance Single submitter
- CCDC127 p.Asn5Thr Uncertain significance Single submitter
- CCDC127 p.Asp216Gly Uncertain significance Single submitter
- CCDC127 p.Cys174Tyr Uncertain significance Single submitter
- CCDC127 p.Gln146Pro Uncertain significance Single submitter
- CCDC127 p.Gln170Arg Uncertain significance Single submitter
- CCDC127 p.Glu246Lys Uncertain significance Single submitter
- CCDC127 p.Ile107Thr Uncertain significance Single submitter
- CCDC127 p.Ile78Thr Uncertain significance Single submitter
- CCDC127 p.Tyr237Cys Uncertain significance Single submitter
All CCDC127 variants
Likely benign 3
- p.Arg61Gln Single submitter
- p.Phe177Leu Single submitter
- p.Val244Ile Single submitter
Uncertain significance 42
- p.Ala105Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala194Thr Single submitter ⚠
- p.Ala58Asp Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg13Gln Single submitter ⚠
- p.Arg13Trp Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg252Gly Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Asn226Ser Single submitter ⚠
- p.Asn5Thr Single submitter ⚠
- p.Asn81Ser Single submitter ⚠
- p.Asp202Glu Single submitter ⚠
- p.Asp216Gly Single submitter ⚠
- p.Cys174Tyr Single submitter ⚠
- p.Gln133His Single submitter ⚠
- p.Gln146Pro Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.Glu104Val Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu55Ala Single submitter ⚠
- p.Gly208Ser Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile78Thr Single submitter ⚠
- p.Lys118Glu Single submitter ⚠
- p.Lys227Arg Single submitter ⚠
- p.Met34Val Single submitter ⚠
- p.Ser24Gly Single submitter ⚠
- p.Thr167Ile Single submitter ⚠
- p.Thr225Ser Single submitter ⚠
- p.Tyr237Cys Single submitter ⚠
- p.Val165Ile Single submitter ⚠
- p.Val192Leu Single submitter ⚠
- p.Val196Ile Single submitter ⚠
- p.Val253Leu Single submitter ⚠