CTDNEP1 — 16 ClinVar variants
All ClinVar germline CTDNEP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
16 Uncertain significance
Full CTDNEP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTDNEP1 p.Ala228Thr Uncertain significance Single submitter
- CTDNEP1 p.Arg55Trp Uncertain significance Single submitter
- CTDNEP1 p.His113Tyr Uncertain significance Single submitter
- CTDNEP1 p.Ile25Leu Uncertain significance Single submitter
- CTDNEP1 p.Leu27Phe Uncertain significance Single submitter
- CTDNEP1 p.Leu27Val Uncertain significance Single submitter
- CTDNEP1 p.Thr12Met Uncertain significance Single submitter
- CTDNEP1 p.Thr34Ala Uncertain significance Single submitter
- CTDNEP1 p.Thr89Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- CTDNEP1 p.Ala191Val Uncertain significance Single submitter
- CTDNEP1 p.Arg55Gln Uncertain significance Single submitter
- CTDNEP1 p.Arg86Trp Uncertain significance Single submitter
- CTDNEP1 p.His102Arg Uncertain significance Single submitter
- CTDNEP1 p.Leu20Phe Uncertain significance Single submitter
- CTDNEP1 p.Lys19Glu Uncertain significance Single submitter
- CTDNEP1 p.Phe13Leu Uncertain significance Single submitter
All CTDNEP1 variants
Uncertain significance 16
- p.Ala191Val Single submitter ⚠
- p.Ala228Thr Single submitter ⚠
- p.Arg55Gln Single submitter ⚠
- p.Arg55Trp Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His113Tyr Single submitter ⚠
- p.Ile25Leu Single submitter ⚠
- p.Leu20Phe Single submitter ⚠
- p.Leu27Phe Single submitter ⚠
- p.Leu27Val Single submitter ⚠
- p.Lys19Glu Single submitter ⚠
- p.Phe13Leu Single submitter ⚠
- p.Thr12Met Single submitter ⚠
- p.Thr34Ala Single submitter ⚠
- p.Thr89Met Single submitter ⚠