DPF1 — 26 ClinVar variants
All ClinVar germline DPF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Likely benign · 24 Uncertain significance
Full DPF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
- DPF1 p.Ala186Pro Uncertain significance Single submitter
- DPF1 p.Arg29Leu Uncertain significance Single submitter
- DPF1 p.Cys52Arg Uncertain significance Single submitter
- DPF1 p.Glu131Asp Uncertain significance Single submitter
- DPF1 p.His301Tyr Uncertain significance Single submitter
- DPF1 p.Leu120Val Uncertain significance Single submitter
- DPF1 p.Pro150Leu Uncertain significance Single submitter
- DPF1 p.Pro67Leu Uncertain significance Single submitter
- DPF1 p.Tyr383Ser Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All DPF1 variants
Uncertain significance 24
- c.-17A>C Single submitter
- c.-35C>A Single submitter
- p.Ala186Pro Single submitter ⚠
- p.Ala32Thr Single submitter
- p.Ala380Ser Single submitter
- p.Ala66Asp Single submitter
- p.Arg230His Single submitter
- p.Arg237Leu Single submitter
- p.Arg29Leu Single submitter ⚠
- p.Arg37Ter Single submitter Long eyelashes
- p.Asn227Lys Single submitter
- p.Asp160Gly Single submitter
- p.Cys286Tyr Single submitter
- p.Cys52Arg Single submitter ⚠
- p.Glu131Asp Single submitter ⚠
- p.Glu364Lys Single submitter ⚠
- p.His231Asn Single submitter
- p.His301Tyr Single submitter ⚠
- p.Leu120Val Single submitter ⚠
- p.Pro150Leu Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Thr317Asn Single submitter
- p.Tyr383Ser Single submitter ⚠
- p.Val155Glu Single submitter