DNPH1 — 30 ClinVar variants
All ClinVar germline DNPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
2 Likely benign · 28 Uncertain significance
Full DNPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNPH1 p.Ala134Thr Uncertain significance Single submitter
- DNPH1 p.Ala22Thr Uncertain significance Single submitter
- DNPH1 p.Ala69Pro Uncertain significance Single submitter
- DNPH1 p.Arg125His Uncertain significance Single submitter
- DNPH1 p.Arg139Gln Uncertain significance Single submitter
- DNPH1 p.Arg139Trp Uncertain significance Single submitter
- DNPH1 p.Gln122Lys Uncertain significance Single submitter
- DNPH1 p.Gln122Pro Uncertain significance Single submitter
- DNPH1 p.Glu11Gln Uncertain significance Single submitter
- DNPH1 p.Glu149Asp Uncertain significance Single submitter
- DNPH1 p.Gly106Asp Uncertain significance Single submitter
- DNPH1 p.Gly16Arg Uncertain significance Single submitter
- DNPH1 p.Gly50Arg Uncertain significance Single submitter
- DNPH1 p.Gly63Asp Uncertain significance Single submitter
- DNPH1 p.Gly8Glu Uncertain significance Single submitter
- DNPH1 p.Pro7Ala Uncertain significance Single submitter
- DNPH1 p.Ser10Arg Uncertain significance Single submitter
- DNPH1 p.Thr174Ile Uncertain significance Single submitter
- DNPH1 p.Val109Met Uncertain significance Single submitter
- DNPH1 p.Val6Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All DNPH1 variants
Likely benign 2
- p.Met5Arg Single submitter
- p.Thr174Ala Single submitter
Uncertain significance 28
- p.Ala134Thr Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala58Glu Single submitter ⚠
- p.Ala69Pro Single submitter ⚠
- p.Ala87Val Single submitter
- p.Arg125His Single submitter ⚠
- p.Arg132Gly Single submitter
- p.Arg132Trp Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg156Pro Single submitter ⚠
- p.Gln122Lys Single submitter ⚠
- p.Gln122Pro Single submitter ⚠
- p.Glu11Gln Single submitter ⚠
- p.Glu149Asp Single submitter ⚠
- p.Gly106Asp Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly27Ala Single submitter
- p.Gly50Arg Single submitter ⚠
- p.Gly63Asp Single submitter ⚠
- p.Gly8Glu Single submitter ⚠
- p.Leu116Met Single submitter ⚠
- p.Phe158Leu Single submitter ⚠
- p.Pro7Ala Single submitter ⚠
- p.Ser10Arg Single submitter ⚠
- p.Thr174Ile Single submitter ⚠
- p.Val109Met Single submitter ⚠
- p.Val6Met Single submitter ⚠