CCDC121 — 58 ClinVar variants
All ClinVar germline CCDC121 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
6 Likely benign · 52 Uncertain significance
Full CCDC121 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC121 p.Ala136Ser Uncertain significance Single submitter
- CCDC121 p.Ala136Val Uncertain significance Single submitter
- CCDC121 p.Ala144Thr Uncertain significance Single submitter
- CCDC121 p.Arg163Thr Uncertain significance Single submitter
- CCDC121 p.Arg226Thr Uncertain significance Single submitter
- CCDC121 p.Asn45Asp Uncertain significance Single submitter
- CCDC121 p.Asn5Ser Uncertain significance Single submitter
- CCDC121 p.Gln143Leu Uncertain significance Single submitter
- CCDC121 p.Gln212Glu Uncertain significance Single submitter
- CCDC121 p.Gly270Ser Uncertain significance Single submitter
- CCDC121 p.Ile110Thr Uncertain significance Single submitter
- CCDC121 p.Leu113Ile Uncertain significance Single submitter
- CCDC121 p.Lys101Glu Uncertain significance Single submitter
- CCDC121 p.Lys167Glu Uncertain significance Single submitter
- CCDC121 p.Lys181Gln Uncertain significance Single submitter
- CCDC121 p.Lys215Thr Uncertain significance Single submitter
- CCDC121 p.Lys272Asn Uncertain significance Single submitter
- CCDC121 p.Ser158Arg Uncertain significance Single submitter
- CCDC121 p.Thr217Arg Uncertain significance Single submitter
- CCDC121 p.Thr219Ile Uncertain significance Single submitter
- CCDC121 p.Thr271Pro Uncertain significance Single submitter
- CCDC121 p.Tyr79Cys Uncertain significance Single submitter
- CCDC121 p.Val260Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CCDC121 p.Ala218Pro Uncertain significance Single submitter
- CCDC121 p.Arg27Pro Uncertain significance Single submitter
- CCDC121 p.Gln242His Uncertain significance Single submitter
- CCDC121 p.Glu120Asp Uncertain significance Single submitter
- CCDC121 p.Glu134Asp Uncertain significance Single submitter
- CCDC121 p.Glu28Gly Uncertain significance Single submitter
- CCDC121 p.Glu67Gly Uncertain significance Single submitter
- CCDC121 p.Glu67Lys Uncertain significance Single submitter
- CCDC121 p.Ile8Met Uncertain significance Single submitter
- CCDC121 p.Lys29Glu Uncertain significance Single submitter
- CCDC121 p.Lys87Thr Uncertain significance Single submitter
- CCDC121 p.Ser77Tyr Uncertain significance Single submitter
All CCDC121 variants
Likely benign 6
- c.-119+323A>C Single submitter
- c.-119+421G>A Single submitter
- c.-119+424C>T Single submitter
- c.-119+496G>A Single submitter
- c.-97G>C Single submitter
- c.-97G>T Single submitter
Uncertain significance 52
- c.-116T>C Single submitter
- c.-119+251C>T Single submitter
- c.-119+257G>A Single submitter
- c.-119+287C>T Single submitter
- c.-119+292C>G Single submitter
- c.-119+298T>C Single submitter
- c.-119+337C>A Single submitter
- c.-119+385C>G Single submitter
- c.-119+424C>G Single submitter
- c.-119+449G>A Single submitter
- c.-119+463C>G Single submitter
- c.-119+476C>G Single submitter
- c.-25G>C Single submitter
- c.-33G>A Single submitter
- c.-35T>G Single submitter
- c.-47A>T Single submitter
- c.-65A>G Single submitter
- p.Ala136Ser Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala144Thr Single submitter ⚠
- p.Ala218Pro Single submitter ⚠
- p.Arg163Thr Single submitter ⚠
- p.Arg226Thr Single submitter ⚠
- p.Arg27Pro Single submitter ⚠
- p.Asn45Asp Single submitter ⚠
- p.Asn5Ser Single submitter ⚠
- p.Gln143Leu Single submitter ⚠
- p.Gln212Glu Single submitter ⚠
- p.Gln242His Single submitter ⚠
- p.Glu120Asp Single submitter ⚠
- p.Glu134Asp Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Glu67Gly Single submitter ⚠
- p.Glu67Lys Single submitter ⚠
- p.Gly270Ser Single submitter ⚠
- p.Ile110Thr Single submitter ⚠
- p.Ile8Met Single submitter ⚠
- p.Leu113Ile Single submitter ⚠
- p.Lys101Glu Single submitter ⚠
- p.Lys167Glu Single submitter ⚠
- p.Lys181Gln Single submitter ⚠
- p.Lys215Thr Single submitter ⚠
- p.Lys272Asn Single submitter ⚠
- p.Lys29Glu Single submitter ⚠
- p.Lys87Thr Single submitter ⚠
- p.Ser158Arg Single submitter ⚠
- p.Ser77Tyr Single submitter ⚠
- p.Thr217Arg Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr271Pro Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val260Ile Single submitter ⚠