DOHH — 80 ClinVar variants
All ClinVar germline DOHH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
4 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Likely benign · 66 Uncertain significance
Full DOHH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DOHH p.Ala153Thr Uncertain significance Single submitter
- DOHH p.Ala164Val Uncertain significance Single submitter
- DOHH p.Ala181Ser Uncertain significance Single submitter
- DOHH p.Ala191Val Uncertain significance Single submitter
- DOHH p.Ala221Val Uncertain significance Single submitter
- DOHH p.Ala23Thr Uncertain significance Single submitter
- DOHH p.Ala256Thr Uncertain significance Single submitter
- DOHH p.Ala257Thr Uncertain significance Single submitter
- DOHH p.Ala276Val Uncertain significance Single submitter
- DOHH p.Arg170Gln Uncertain significance Single submitter
- DOHH p.Arg175Pro Uncertain significance Single submitter
- DOHH p.Arg183Cys Uncertain significance Single submitter
- DOHH p.Arg231Gln Uncertain significance Single submitter
- DOHH p.Arg239Trp Uncertain significance Single submitter
-
DOHH p.Arg26Trp
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- DOHH p.Arg69Cys Uncertain significance Single submitter
- DOHH p.Arg69His Uncertain significance Single submitter
- DOHH p.Arg88His Uncertain significance Single submitter
- DOHH p.Gln215Arg Uncertain significance Single submitter
- DOHH p.Gln259Leu Uncertain significance Single submitter
- DOHH p.Glu138Lys Uncertain significance Single submitter
- DOHH p.Glu188Lys Uncertain significance Single submitter
-
DOHH p.Glu208Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
-
DOHH p.Glu208Lys
Uncertain significance
Single submitter
DOHH related neurodevelopmental disorder
- DOHH p.Glu234Lys Uncertain significance Single submitter
- DOHH p.His199Pro Uncertain significance Single submitter
- DOHH p.His261Gln Uncertain significance Single submitter
- DOHH p.Ile116Leu Uncertain significance Single submitter
- DOHH p.Leu28Pro Uncertain significance Single submitter
- DOHH p.Leu95Met Uncertain significance Single submitter
- DOHH p.Phe25Val Uncertain significance Single submitter
- DOHH p.Phe29Leu Uncertain significance Single submitter
-
DOHH p.Pro149Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- DOHH p.Pro171Thr Uncertain significance Single submitter
- DOHH p.Pro20Ser Uncertain significance Single submitter
- DOHH p.Ser169Thr Uncertain significance Single submitter
- DOHH p.Val103Gly Uncertain significance Single submitter
- DOHH p.Val115Ile Uncertain significance Single submitter
- DOHH p.Val238Gly Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
-
DOHH p.Arg160Cys
Uncertain significance
Multiple submitters
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- DOHH p.Ala153Gly Uncertain significance Single submitter
- DOHH p.Ala248Thr Uncertain significance Single submitter
- DOHH p.Ala52Ser Uncertain significance Single submitter
- DOHH p.Ala52Thr Uncertain significance Single submitter
- DOHH p.Arg160His Uncertain significance Single submitter
- DOHH p.Arg251Trp Uncertain significance Single submitter
- DOHH p.Arg267Cys Uncertain significance Single submitter
- DOHH p.Arg32Cys Uncertain significance Single submitter
- DOHH p.Arg32Leu Uncertain significance Single submitter
- DOHH p.Asp167Glu Uncertain significance Single submitter
- DOHH p.Glu117Lys Uncertain significance Single submitter
- DOHH p.Glu130Lys Uncertain significance Single submitter
- DOHH p.Glu283Lys Uncertain significance Single submitter
- DOHH p.Gly210Cys Uncertain significance Single submitter
- DOHH p.Phe288Leu Uncertain significance Single submitter
- DOHH p.Phe47Leu Uncertain significance Single submitter
-
DOHH p.Pro152Leu
Conflicting
Single submitter
DOHH-related disorder
-
DOHH p.Pro223Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- DOHH p.Ser111Tyr Uncertain significance Single submitter
- DOHH p.Thr3Met Uncertain significance Single submitter
- DOHH p.Val103Ile Uncertain significance Single submitter
- DOHH p.Val268Met Uncertain significance Single submitter
-
DOHH p.Val75Gly
Uncertain significance
Single submitter
neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
All DOHH variants
Pathogenic 4
- p.Asn184Lys No assertion criteria neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- p.Glu102fs No assertion criteria neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- p.Ile249Thr No assertion criteria DOHH related neurodevelopmental disorder
- p.Tyr280Ter No assertion criteria neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
Likely pathogenic 1
- p.Ala300fs Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
Conflicting classifications of pathogenicity 2
- p.Glu219fs Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
- p.Pro152Leu Single submitter DOHH-related disorder ⚠
Likely benign 7
Uncertain significance 66
- p.Ala250Thr Multiple submitters
- p.Arg160Cys Multiple submitters neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠
- p.Ala153Gly Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala181Ser Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala23Thr Single submitter ⚠
- p.Ala243Thr Single submitter
- p.Ala248Thr Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala257Thr Single submitter ⚠
- p.Ala276Val Single submitter ⚠
- p.Ala52Ser Single submitter ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala70Val Single submitter
- p.Arg160His Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg175Pro Single submitter ⚠
- p.Arg183Cys Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg267Cys Single submitter ⚠
- p.Arg26Trp Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Asp167Glu Single submitter ⚠
- p.Gln215Arg Single submitter ⚠
- p.Gln259Leu Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu130Lys Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu188Lys Single submitter ⚠
- p.Glu208Gln Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠
- p.Glu208Lys Single submitter DOHH related neurodevelopmental disorder ⚠
- p.Glu234Lys Single submitter ⚠
- p.Glu283Lys Single submitter ⚠
- p.Gly210Cys Single submitter ⚠
- p.Gly35Asp Single submitter
- p.His199Pro Single submitter ⚠
- p.His261Gln Single submitter ⚠
- p.Ile116Leu Single submitter ⚠
- p.Leu28Pro Single submitter ⚠
- p.Leu95Met Single submitter ⚠
- p.Phe25Val Single submitter ⚠
- p.Phe288Leu Single submitter ⚠
- p.Phe29Leu Single submitter ⚠
- p.Phe47Leu Single submitter ⚠
- p.Pro149Arg Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Pro223Leu Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠
- p.Ser111Tyr Single submitter ⚠
- p.Ser169Thr Single submitter ⚠
- p.Thr3Met Single submitter ⚠
- p.Val103Gly Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val115Ile Single submitter ⚠
- p.Val238Gly Single submitter ⚠
- p.Val268Met Single submitter ⚠
- p.Val75Gly Single submitter neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment ⚠