CFDP1 — 50 ClinVar variants
All ClinVar germline CFDP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
7 Likely benign · 43 Uncertain significance
Full CFDP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CFDP1 p.Ala203Val Uncertain significance Single submitter
- CFDP1 p.Ala208Pro Uncertain significance Single submitter
- CFDP1 p.Ala93Ser Uncertain significance Single submitter
- CFDP1 p.Ala94Val Uncertain significance Single submitter
- CFDP1 p.Arg266Leu Uncertain significance Single submitter
- CFDP1 p.Arg280Gln Uncertain significance Single submitter
- CFDP1 p.Asp92Asn Uncertain significance Single submitter
- CFDP1 p.Gln56His Uncertain significance Single submitter
- CFDP1 p.Glu242Gly Uncertain significance Single submitter
- CFDP1 p.Gly67Ser Uncertain significance Single submitter
- CFDP1 p.Gly84Glu Uncertain significance Single submitter
- CFDP1 p.Ile263Val Uncertain significance Single submitter
- CFDP1 p.Ile58Val Uncertain significance Single submitter
- CFDP1 p.Leu154Pro Uncertain significance Single submitter
- CFDP1 p.Lys134Glu Uncertain significance Single submitter
- CFDP1 p.Lys190Glu Uncertain significance Single submitter
- CFDP1 p.Lys234Glu Uncertain significance Single submitter
- CFDP1 p.Lys245Arg Uncertain significance Single submitter
- CFDP1 p.Lys98Glu Uncertain significance Single submitter
- CFDP1 p.Phe9Ser Uncertain significance Single submitter
- CFDP1 p.Pro129Ala Uncertain significance Single submitter
- CFDP1 p.Pro210Ser Uncertain significance Single submitter
- CFDP1 p.Thr185Ile Uncertain significance Single submitter
- CFDP1 p.Val30Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CFDP1 p.Arg266Gln Uncertain significance Single submitter
- CFDP1 p.Asp15Glu Uncertain significance Single submitter
- CFDP1 p.Asp183Asn Uncertain significance Single submitter
- CFDP1 p.Asp28Asn Uncertain significance Single submitter
- CFDP1 p.Asp29Glu Uncertain significance Single submitter
- CFDP1 p.Glu112Gln Uncertain significance Single submitter
- CFDP1 p.Glu24Ala Uncertain significance Single submitter
- CFDP1 p.Glu269Lys Uncertain significance Single submitter
- CFDP1 p.Glu38Gln Uncertain significance Single submitter
- CFDP1 p.Glu43Asp Uncertain significance Single submitter
- CFDP1 p.Gly217Arg Uncertain significance Single submitter
- CFDP1 p.Lys109Glu Uncertain significance Single submitter
- CFDP1 p.Lys200Thr Uncertain significance Single submitter
- CFDP1 p.Ser216Leu Uncertain significance Single submitter
- CFDP1 p.Thr142Arg Uncertain significance Single submitter
- CFDP1 p.Tyr18Cys Uncertain significance Single submitter
- CFDP1 p.Val182Ala Uncertain significance Single submitter
- CFDP1 p.Val182Met Uncertain significance Single submitter
-
CFDP1 p.Ser10Pro
Likely benign
No assertion criteria
CFDP1-related disorder
All CFDP1 variants
Likely benign 7
- p.Thr185= Single submitter
- p.Ala214= No assertion criteria CFDP1-related disorder
- p.Ala60Thr No assertion criteria CFDP1-related disorder
- p.Glu242= No assertion criteria CFDP1-related disorder
- p.Glu90= No assertion criteria CFDP1-related disorder
- p.Pro20= No assertion criteria CFDP1-related disorder
- p.Ser10Pro No assertion criteria CFDP1-related disorder ⚠
Uncertain significance 43
- p.Ala203Val Single submitter ⚠
- p.Ala208Pro Single submitter ⚠
- p.Ala93Ser Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Arg266Gln Single submitter ⚠
- p.Arg266Leu Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Asp15Glu Single submitter ⚠
- p.Asp183Asn Single submitter ⚠
- p.Asp28Asn Single submitter ⚠
- p.Asp29Glu Single submitter ⚠
- p.Asp92Asn Single submitter ⚠
- p.Gln56His Single submitter ⚠
- p.Glu112Gln Single submitter ⚠
- p.Glu242Gly Single submitter ⚠
- p.Glu24Ala Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Glu38Gln Single submitter ⚠
- p.Glu43Asp Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly67Ser Single submitter ⚠
- p.Gly84Glu Single submitter ⚠
- p.Ile263Val Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Leu154Pro Single submitter ⚠
- p.Lys109Glu Single submitter ⚠
- p.Lys134Glu Single submitter ⚠
- p.Lys190Glu Single submitter ⚠
- p.Lys200Thr Single submitter ⚠
- p.Lys234Glu Single submitter ⚠
- p.Lys245Arg Single submitter ⚠
- p.Lys98Glu Single submitter ⚠
- p.Phe9Ser Single submitter ⚠
- p.Pro129Ala Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Ser216Leu Single submitter ⚠
- p.Thr142Arg Single submitter ⚠
- p.Thr185Ile Single submitter ⚠
- p.Tyr18Cys Single submitter ⚠
- p.Tyr271Ter Single submitter CFDP1-related disorder
- p.Val182Ala Single submitter ⚠
- p.Val182Met Single submitter ⚠
- p.Val30Ile Single submitter ⚠