CDPF1 — 19 ClinVar variants
All ClinVar germline CDPF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
2 Likely benign · 17 Uncertain significance
Full CDPF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDPF1 p.Arg8His Uncertain significance Single submitter
- CDPF1 p.Cys64Arg Uncertain significance Single submitter
- CDPF1 p.Cys86Phe Uncertain significance Single submitter
- CDPF1 p.Glu41Lys Uncertain significance Single submitter
- CDPF1 p.Gly28Ala Uncertain significance Single submitter
- CDPF1 p.Leu58Pro Uncertain significance Single submitter
- CDPF1 p.Phe57Leu Uncertain significance Single submitter
- CDPF1 p.Phe80Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CDPF1 p.Arg102Trp Uncertain significance Single submitter
- CDPF1 p.Arg8Cys Uncertain significance Single submitter
- CDPF1 p.Arg91Trp Uncertain significance Single submitter
- CDPF1 p.Glu92Lys Uncertain significance Single submitter
- CDPF1 p.Leu105Ser Uncertain significance Single submitter
- CDPF1 p.Lys83Thr Uncertain significance Single submitter
- CDPF1 p.Met37Arg Uncertain significance Single submitter
- CDPF1 p.Thr123Met Uncertain significance Single submitter
- CDPF1 p.Thr19Ala Likely benign Single submitter
- CDPF1 p.Tyr26Cys Uncertain significance Single submitter
All CDPF1 variants
Likely benign 2
- p.Arg102Gln Single submitter
- p.Thr19Ala Single submitter ⚠
Uncertain significance 17
- p.Arg102Trp Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Arg8His Single submitter ⚠
- p.Arg91Trp Single submitter ⚠
- p.Cys64Arg Single submitter ⚠
- p.Cys86Phe Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu92Lys Single submitter ⚠
- p.Gly28Ala Single submitter ⚠
- p.Leu105Ser Single submitter ⚠
- p.Leu58Pro Single submitter ⚠
- p.Lys83Thr Single submitter ⚠
- p.Met37Arg Single submitter ⚠
- p.Phe57Leu Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Thr123Met Single submitter ⚠
- p.Tyr26Cys Single submitter ⚠