DPH6 — 37 ClinVar variants
All ClinVar germline DPH6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 2 Likely benign · 34 Uncertain significance
Full DPH6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DPH6 p.Arg2Trp Uncertain significance Single submitter
- DPH6 p.Asp173His Uncertain significance Single submitter
- DPH6 p.Asp46Asn Uncertain significance Single submitter
- DPH6 p.Cys199Phe Uncertain significance Single submitter
- DPH6 p.Cys199Tyr Uncertain significance Single submitter
- DPH6 p.Gln159Lys Uncertain significance Single submitter
- DPH6 p.Glu206Gly Uncertain significance Single submitter
- DPH6 p.Gly24Arg Uncertain significance Single submitter
- DPH6 p.Gly41Ala Uncertain significance Single submitter
- DPH6 p.Gly76Arg Uncertain significance Single submitter
- DPH6 p.His55Leu Uncertain significance Single submitter
- DPH6 p.Ile158Val Uncertain significance Single submitter
- DPH6 p.Leu168Phe Uncertain significance Single submitter
- DPH6 p.Met49Ile Uncertain significance Single submitter
- DPH6 p.Ser261Cys Uncertain significance Single submitter
- DPH6 p.Thr52Ile Uncertain significance Single submitter
- DPH6 p.Tyr121Cys Uncertain significance Single submitter
- DPH6 p.Val53Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- DPH6 p.Ala5Ser Uncertain significance Single submitter
- DPH6 p.Arg123His Uncertain significance Single submitter
- DPH6 p.Arg241His Uncertain significance Single submitter
- DPH6 p.Asp173Ala Uncertain significance Single submitter
- DPH6 p.Cys88Arg Uncertain significance Single submitter
- DPH6 p.Ile188Lys Uncertain significance Single submitter
- DPH6 p.Leu187Phe Uncertain significance Single submitter
- DPH6 p.Pro236Ser Uncertain significance Single submitter
- DPH6 p.Ser252Phe Uncertain significance Single submitter
- DPH6 p.Ser78Arg Uncertain significance Single submitter
- DPH6 p.Thr86Ala Uncertain significance Single submitter
- DPH6 p.Tyr239Cys Uncertain significance Single submitter
- DPH6 p.Tyr61Phe Uncertain significance Single submitter
- DPH6 p.Tyr97Cys Uncertain significance Single submitter
- DPH6 p.Val196Ile Uncertain significance Single submitter
- DPH6 p.Val251Met Uncertain significance Single submitter
All DPH6 variants
Benign 1
- p.Gly41Glu Multiple submitters
Likely benign 2
- p.Met161Ile Single submitter
- p.Met161Val Single submitter
Uncertain significance 34
- p.Ala5Ser Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg2Trp Single submitter ⚠
- p.Asp173Ala Single submitter ⚠
- p.Asp173His Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Cys199Phe Single submitter ⚠
- p.Cys199Tyr Single submitter ⚠
- p.Cys88Arg Single submitter ⚠
- p.Gln159Lys Single submitter ⚠
- p.Glu206Gly Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly41Ala Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.His55Leu Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile188Lys Single submitter ⚠
- p.Leu168Phe Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Met49Ile Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Ser252Phe Single submitter ⚠
- p.Ser261Cys Single submitter ⚠
- p.Ser78Arg Single submitter ⚠
- p.Thr52Ile Single submitter ⚠
- p.Thr86Ala Single submitter ⚠
- p.Tyr121Cys Single submitter ⚠
- p.Tyr239Cys Single submitter ⚠
- p.Tyr61Phe Single submitter ⚠
- p.Tyr97Cys Single submitter ⚠
- p.Val196Ile Single submitter ⚠
- p.Val251Met Single submitter ⚠
- p.Val53Ala Single submitter ⚠