CCDC43 — 29 ClinVar variants
All ClinVar germline CCDC43 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Likely benign · 28 Uncertain significance
Full CCDC43 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCDC43 p.Ala11Ser Uncertain significance Single submitter
- CCDC43 p.Arg177Gln Uncertain significance Single submitter
- CCDC43 p.Arg181Gln Uncertain significance Single submitter
- CCDC43 p.Arg83Gln Uncertain significance Single submitter
- CCDC43 p.Asp143Glu Uncertain significance Single submitter
- CCDC43 p.Asp16Ala Uncertain significance Single submitter
- CCDC43 p.Gln112Glu Uncertain significance Single submitter
- CCDC43 p.Glu54Asp Uncertain significance Single submitter
- CCDC43 p.Gly62Glu Uncertain significance Single submitter
- CCDC43 p.Ile107Thr Uncertain significance Single submitter
- CCDC43 p.Ile10Thr Uncertain significance Single submitter
- CCDC43 p.Ile158Thr Uncertain significance Single submitter
- CCDC43 p.Lys196Glu Uncertain significance Single submitter
- CCDC43 p.Lys95Arg Uncertain significance Single submitter
- CCDC43 p.Val114Ile Uncertain significance Single submitter
- CCDC43 p.Val7Glu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CCDC43 p.Ala11Asp Uncertain significance Single submitter
- CCDC43 p.Ala38Thr Uncertain significance Single submitter
- CCDC43 p.Ala42Val Uncertain significance Single submitter
- CCDC43 p.Ala9Pro Uncertain significance Single submitter
- CCDC43 p.Ala9Thr Uncertain significance Single submitter
- CCDC43 p.Arg185Trp Uncertain significance Single submitter
- CCDC43 p.Asp202His Uncertain significance Single submitter
- CCDC43 p.Glu108Lys Uncertain significance Single submitter
- CCDC43 p.Gly19Asp Uncertain significance Single submitter
- CCDC43 p.Leu48Met Uncertain significance Single submitter
- CCDC43 p.Lys196Gln Uncertain significance Single submitter
- CCDC43 p.Val35Met Uncertain significance Single submitter
All CCDC43 variants
Likely benign 1
- p.Arg219Lys Single submitter
Uncertain significance 28
- p.Ala11Asp Single submitter ⚠
- p.Ala11Ser Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala9Pro Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asp143Glu Single submitter ⚠
- p.Asp16Ala Single submitter ⚠
- p.Asp202His Single submitter ⚠
- p.Gln112Glu Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu54Asp Single submitter ⚠
- p.Gly19Asp Single submitter ⚠
- p.Gly62Glu Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile10Thr Single submitter ⚠
- p.Ile158Thr Single submitter ⚠
- p.Leu48Met Single submitter ⚠
- p.Lys196Gln Single submitter ⚠
- p.Lys196Glu Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val35Met Single submitter ⚠
- p.Val7Glu Single submitter ⚠