CCDC124 — 42 ClinVar variants
All ClinVar germline CCDC124 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
42 Uncertain significance
Full CCDC124 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC124 p.Ala160Val Uncertain significance Single submitter
- CCDC124 p.Ala161Val Uncertain significance Single submitter
- CCDC124 p.Ala86Thr Uncertain significance Single submitter
- CCDC124 p.Asn220Ser Uncertain significance Single submitter
- CCDC124 p.Gln109Arg Uncertain significance Single submitter
- CCDC124 p.Gln195His Uncertain significance Single submitter
- CCDC124 p.Glu118Lys Uncertain significance Single submitter
- CCDC124 p.Glu125Gly Uncertain significance Single submitter
- CCDC124 p.Glu159Ala Uncertain significance Single submitter
- CCDC124 p.Lys201Arg Uncertain significance Single submitter
- CCDC124 p.Lys32Arg Uncertain significance Single submitter
- CCDC124 p.Pro127Leu Uncertain significance Single submitter
- CCDC124 p.Pro218Thr Uncertain significance Single submitter
- CCDC124 p.Pro87Ser Uncertain significance Single submitter
- CCDC124 p.Ser141Gly Uncertain significance Single submitter
- CCDC124 p.Ser141Ile Uncertain significance Single submitter
- CCDC124 p.Ser207Phe Uncertain significance Single submitter
- CCDC124 p.Val46Ile Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- CCDC124 p.Ala26Pro Uncertain significance Single submitter
- CCDC124 p.Ala26Thr Uncertain significance Single submitter
- CCDC124 p.Ala98Val Uncertain significance Single submitter
- CCDC124 p.Arg106Gln Uncertain significance Single submitter
- CCDC124 p.Arg145His Uncertain significance Single submitter
- CCDC124 p.Arg163Pro Uncertain significance Single submitter
- CCDC124 p.Arg183Gly Uncertain significance Single submitter
- CCDC124 p.Arg215Trp Uncertain significance Single submitter
- CCDC124 p.Arg88Trp Uncertain significance Single submitter
- CCDC124 p.Arg97Trp Uncertain significance Single submitter
- CCDC124 p.Asn190Lys Uncertain significance Single submitter
- CCDC124 p.Asp115Tyr Uncertain significance Single submitter
- CCDC124 p.Asp27Val Uncertain significance Single submitter
- CCDC124 p.Asp42Asn Uncertain significance Single submitter
- CCDC124 p.Asp78His Uncertain significance Single submitter
- CCDC124 p.Glu148Gln Uncertain significance Single submitter
- CCDC124 p.Glu187Gln Uncertain significance Single submitter
- CCDC124 p.Glu203Lys Uncertain significance Single submitter
- CCDC124 p.Glu8Gly Uncertain significance Single submitter
- CCDC124 p.Leu61Phe Uncertain significance Single submitter
- CCDC124 p.Lys30Thr Uncertain significance Single submitter
- CCDC124 p.Lys82Asn Uncertain significance Single submitter
- CCDC124 p.Ser12Leu Uncertain significance Single submitter
- CCDC124 p.Val217Met Uncertain significance Single submitter
All CCDC124 variants
Uncertain significance 42
- p.Ala160Val Single submitter ⚠
- p.Ala161Val Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Ala26Thr Single submitter ⚠
- p.Ala86Thr Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg163Pro Single submitter ⚠
- p.Arg183Gly Single submitter ⚠
- p.Arg215Trp Single submitter ⚠
- p.Arg88Trp Single submitter ⚠
- p.Arg97Trp Single submitter ⚠
- p.Asn190Lys Single submitter ⚠
- p.Asn220Ser Single submitter ⚠
- p.Asp115Tyr Single submitter ⚠
- p.Asp27Val Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Asp78His Single submitter ⚠
- p.Gln109Arg Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu125Gly Single submitter ⚠
- p.Glu148Gln Single submitter ⚠
- p.Glu159Ala Single submitter ⚠
- p.Glu187Gln Single submitter ⚠
- p.Glu203Lys Single submitter ⚠
- p.Glu8Gly Single submitter ⚠
- p.Leu61Phe Single submitter ⚠
- p.Lys201Arg Single submitter ⚠
- p.Lys30Thr Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys82Asn Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro218Thr Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser12Leu Single submitter ⚠
- p.Ser141Gly Single submitter ⚠
- p.Ser141Ile Single submitter ⚠
- p.Ser207Phe Single submitter ⚠
- p.Val217Met Single submitter ⚠
- p.Val46Ile Single submitter ⚠