DPH2 — 86 ClinVar variants

All ClinVar germline DPH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

2 Likely pathogenic · 1 Conflicting · 7 Likely benign · 76 Uncertain significance

Full DPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 79

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 34

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 45

The independent predictors disagree with each other — read with care.

All DPH2 variants

Likely pathogenic 2

p.Arg477Ter Single submitter diphthamide-deficiency syndrome
p.Ser75Ter Single submitter developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Conflicting classifications of pathogenicity 1

p.Arg282fs Single submitter developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Likely benign 7

p.Ala262Val Single submitter ⚠
p.Arg282His Single submitter ⚠
p.Asp174= Single submitter
p.Gln184= Single submitter
p.His302= Single submitter
p.Lys223Glu Single submitter
p.Val90Met Single submitter ⚠

Uncertain significance 76

p.Ala310Val Single submitter ⚠
p.Ala345Thr Single submitter ⚠
p.Ala448Thr Single submitter ⚠
p.Arg125His Single submitter ⚠
p.Arg169Cys Single submitter ⚠
p.Arg171Gln Single submitter ⚠
p.Arg171Trp Single submitter ⚠
p.Arg198His Single submitter ⚠
p.Arg201His Single submitter ⚠
p.Arg202Cys Single submitter ⚠
p.Arg236Trp Single submitter ⚠
p.Arg263Gln Single submitter ⚠
p.Arg263Trp Single submitter ⚠
p.Arg272Gln Single submitter ⚠
p.Arg282Leu Single submitter ⚠
p.Arg304Trp Single submitter ⚠
p.Arg455Trp Single submitter ⚠
p.Arg463Gly Single submitter ⚠
p.Arg463His Single submitter ⚠
p.Arg477Gln Single submitter ⚠
p.Arg49Pro Single submitter ⚠
p.Asn305Lys Single submitter ⚠
p.Asn329Ser Single submitter ⚠
p.Asp144Asn Single submitter ⚠
p.Asp231Gly Single submitter ⚠
p.Asp280Glu Single submitter ⚠
p.Asp91Tyr Single submitter ⚠
p.Cys362Tyr Single submitter ⚠
p.Gln439Leu Single submitter ⚠
p.Glu212Gly Single submitter ⚠
p.Glu444Asp Single submitter ⚠
p.Glu444Gly Single submitter ⚠
p.Gly18Arg Single submitter ⚠
p.Gly240Glu Single submitter ⚠
p.Gly292Asp Single submitter ⚠
p.Gly352Asp Single submitter ⚠
p.Gly40Arg Single submitter ⚠
p.Gly459Arg Single submitter ⚠
p.Gly465Val Single submitter ⚠
p.Gly81Val Single submitter ⚠
p.Gly86Ser Single submitter ⚠
p.Gly94Asp Single submitter ⚠
p.His302Asn Single submitter ⚠
p.Leu103Val Single submitter ⚠
p.Leu22Val Single submitter ⚠
p.Leu237Arg Single submitter ⚠
p.Leu23Val Single submitter ⚠
p.Leu338Pro Single submitter ⚠
p.Leu80Pro Single submitter ⚠
p.Lys424Met Single submitter ⚠
p.Met194Ile Single submitter ⚠
p.Met194Thr Single submitter ⚠
p.Pro207Leu Single submitter ⚠
p.Pro243Leu Single submitter ⚠
p.Pro322Thr Single submitter ⚠
p.Pro361Ser Single submitter ⚠
p.Pro373Ser Single submitter ⚠
p.Pro419His Single submitter ⚠
p.Pro447Arg Single submitter ⚠
p.Pro462Ala Single submitter ⚠
p.Pro462Thr Single submitter ⚠
p.Ser179Thr Single submitter ⚠
p.Ser188Ala Single submitter ⚠
p.Ser222Phe Single submitter ⚠
p.Ser391Phe Single submitter ⚠
p.Ser431Thr Single submitter ⚠
p.Ser75Pro Single submitter ⚠
p.Ser87Ile Single submitter Macrocephaly ⚠
p.Thr166Pro Single submitter ⚠
p.Thr467Met Single submitter ⚠
p.Trp241Arg Single submitter ⚠
p.Tyr218Cys Single submitter ⚠
p.Val186Gly Single submitter ⚠
p.Val337Glu Single submitter ⚠
p.Val90Leu Single submitter ⚠
p.Val92Met Single submitter ⚠