DHH — 143 ClinVar variants
All ClinVar germline DHH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
11 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 15 Benign · 25 Likely benign · 82 Uncertain significance
Full DHH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DHH p.Glu212Lys
Likely pathogenic
No assertion criteria
46,XY sex reversal 7
Predictors lean, ClinVar uncertain 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DHH p.Ala287Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHH p.Arg102His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DHH p.Arg309Leu
Uncertain significance
Multiple submitters
46,XY sex reversal 7
-
DHH p.Arg318Pro
Uncertain significance
Multiple submitters
46,XY sex reversal 7
-
DHH p.Ser210Arg
Uncertain significance
Multiple submitters
46,XY sex reversal 7
-
DHH p.Ala291Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Ala36Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg102Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg145Pro
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Arg179Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg277Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg292Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg318Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg55Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Asn108Lys
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Asp132Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DHH p.Asp96Glu Uncertain significance Single submitter
-
DHH p.Asp96Tyr
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Glu131Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DHH p.Glu54Gln Uncertain significance Single submitter
-
DHH p.Gly128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Gly170Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Gly202Glu
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Gly372Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Gly51Ser
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Leu18Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Leu219Arg
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Leu267Val
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Phe290Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Pro201Gln
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Pro327Gln
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Thr268Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Thr268Met
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Val114Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Val300Gly
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Val41Leu
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Cys199Tyr
Uncertain significance
No assertion criteria
DHH-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
DHH p.Ala63Gly
Benign
Multiple submitters
46,XY sex reversal 7
-
DHH p.Ala193Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Ala196Glu
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Ala227Val
Pathogenic
Single submitter
Differences in sex development
-
DHH p.Arg106Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg156Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg179His
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Arg27Gln
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Arg312His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg34His
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg355Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Arg73Gly
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Asn203Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DHH p.Asp76Gly Uncertain significance Single submitter
- DHH p.Gly278Arg Uncertain significance Single submitter
-
DHH p.His364Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Leu15Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DHH p.Leu386Val Uncertain significance Single submitter
-
DHH p.Leu40Pro
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Phe274Leu
Uncertain significance
Single submitter
46,XY sex reversal 7
-
DHH p.Phe274Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Pro303Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Pro371Leu
Uncertain significance
Single submitter
46,XY sex reversal 7
- DHH p.Pro377Gln Uncertain significance Single submitter
-
DHH p.Pro377Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DHH p.Pro83Ser Uncertain significance Single submitter
-
DHH p.Tyr344Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Tyr45Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Val239Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Val41Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DHH p.Gly305Arg
Uncertain significance
No assertion criteria
disorder of sexual differentiation
All DHH variants
Pathogenic 11
- p.Ala227Val Single submitter Differences in sex development ⚠
- p.Arg124Gln Single submitter 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- p.Asn337fs Single submitter 46,XY sex reversal 7
- p.Leu335Pro Single submitter 46,XY sex reversal 7
- p.Tyr176Ter Single submitter 46,XY sex reversal 7
- c.304-572_492dup No assertion criteria 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- p.Leu162Pro No assertion criteria 46,XY sex reversal 7
- p.Leu363fs No assertion criteria 46,XY sex reversal 7
- p.Met1Thr No assertion criteria 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- p.Ser185Ter No assertion criteria 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- p.Trp173Cys No assertion criteria 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Likely pathogenic 7
- p.Ala276fs Single submitter
- p.Arg245Pro Single submitter Differences in sex development
- p.Cys11fs Single submitter
- p.Cys343Arg Single submitter 46,XY sex reversal 7
- p.Thr268Ala Single submitter Differences in sex development
- c.566-2A>G No assertion criteria DHH-related disorder
- p.Glu212Lys No assertion criteria 46,XY sex reversal 7 ⚠
Conflicting classifications of pathogenicity 3
Benign 15
- c.303+66C>T Multiple submitters
- c.304-201G>C Multiple submitters
- c.-255T>C Multiple submitters 46,XY sex reversal 7
- c.*87G>T Multiple submitters 46,XY sex reversal 7
- p.Ala63Gly Multiple submitters 46,XY sex reversal 7 ⚠
- p.Glu64= Multiple submitters 46,XY sex reversal 7
- p.His181= Multiple submitters 46,XY sex reversal 7
- c.303+16C>G Single submitter 46,XY sex reversal 7
- c.566-224_566-223insATAA Single submitter
- c.566-227C>A Single submitter
- c.566-227CATA[10] Single submitter
- c.566-227CATA[12] Single submitter
- c.566-231_566-228dup Single submitter
- c.-18C>T Single submitter 46,XY sex reversal 7
- p.Pro9Ala Single submitter 46,XY sex reversal 7
Likely benign 25
- c.*219G>A Multiple submitters 46,XY sex reversal 7
- c.303+10G>A Single submitter 46,XY sex reversal 7
- c.303+133del Single submitter
- c.303+142A>G Single submitter
- c.303+143A>G Single submitter
- c.303+17C>T Single submitter 46,XY sex reversal 7
- c.304-15T>C Single submitter 46,XY sex reversal 7
- c.304-17C>T Single submitter 46,XY sex reversal 7
- c.304-7C>T Single submitter
- c.565+29G>A Single submitter
- c.566-187C>G Single submitter
- c.566-227CATA[13] Single submitter
- c.566-227CATA[9] Single submitter
- p.Ala227= Single submitter 46,XY sex reversal 7
- p.Asn108= Single submitter 46,XY sex reversal 7
- p.Gly197= Single submitter 46,XY sex reversal 7
- p.Gly58= Single submitter 46,XY sex reversal 7
- p.His350= Single submitter
- p.Leu394= Single submitter 46,XY sex reversal 7
- p.Leu44= Single submitter
- p.Pro303= Single submitter 46,XY sex reversal 7
- p.Thr100= Single submitter 46,XY sex reversal 7
- p.Thr268= Single submitter 46,XY sex reversal 7
- p.Ala368= No assertion criteria DHH-related disorder
- p.Ser71= No assertion criteria DHH-related disorder
Uncertain significance 82
- c.*401G>T Multiple submitters 46,XY sex reversal 7
- p.Ala287Glu Multiple submitters Inborn genetic diseases ⚠
- p.Arg102His Multiple submitters Inborn genetic diseases ⚠
- p.Arg309Leu Multiple submitters 46,XY sex reversal 7 ⚠
- p.Arg318Pro Multiple submitters 46,XY sex reversal 7 ⚠
- p.Ser210Arg Multiple submitters 46,XY sex reversal 7 ⚠
- c.565+13G>A Single submitter 46,XY sex reversal 7
- c.566-8C>G Single submitter 46,XY sex reversal 7
- c.-254G>A Single submitter 46,XY sex reversal 7
- c.-256C>G Single submitter 46,XY sex reversal 7
- c.-53G>A Single submitter 46,XY sex reversal 7
- c.*110G>C Single submitter 46,XY sex reversal 7
- c.*154G>T Single submitter 46,XY sex reversal 7
- c.*159G>T Single submitter 46,XY sex reversal 7
- c.*427C>T Single submitter 46,XY sex reversal 7
- c.*65G>T Single submitter 46,XY sex reversal 7
- p.Ala193Val Single submitter Inborn genetic diseases ⚠
- p.Ala196Glu Single submitter 46,XY sex reversal 7 ⚠
- p.Ala291Thr Single submitter Inborn genetic diseases ⚠
- p.Ala36Ser Single submitter Inborn genetic diseases ⚠
- p.Arg102Cys Single submitter Inborn genetic diseases ⚠
- p.Arg106Gln Single submitter Inborn genetic diseases ⚠
- p.Arg145Pro Single submitter 46,XY sex reversal 7 ⚠
- p.Arg156Pro Single submitter Inborn genetic diseases ⚠
- p.Arg179Cys Single submitter Inborn genetic diseases ⚠
- p.Arg179His Single submitter 46,XY sex reversal 7 ⚠
- p.Arg277Pro Single submitter Inborn genetic diseases ⚠
- p.Arg27Gln Single submitter 46,XY sex reversal 7 ⚠
- p.Arg292Ser Single submitter Inborn genetic diseases ⚠
- p.Arg312His Single submitter Inborn genetic diseases ⚠
- p.Arg318_Glu319insValAlaArg Single submitter
- p.Arg318Trp Single submitter Inborn genetic diseases ⚠
- p.Arg34His Single submitter Inborn genetic diseases ⚠
- p.Arg355Cys Single submitter Inborn genetic diseases ⚠
- p.Arg55Gly Single submitter Inborn genetic diseases ⚠
- p.Arg73Gly Single submitter 46,XY sex reversal 7 ⚠
- p.Asn108Lys Single submitter 46,XY sex reversal 7 ⚠
- p.Asn203Lys Single submitter Inborn genetic diseases ⚠
- p.Asp132Ala Single submitter Inborn genetic diseases ⚠
- p.Asp76Gly Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Asp96Tyr Single submitter 46,XY sex reversal 7 ⚠
- p.Glu131Asp Single submitter Inborn genetic diseases ⚠
- p.Glu54Gln Single submitter ⚠
- p.Glu91_Asn92insLys Single submitter Inborn genetic diseases
- p.Gly128Ser Single submitter Inborn genetic diseases ⚠
- p.Gly170Val Single submitter Inborn genetic diseases ⚠
- p.Gly202Glu Single submitter 46,XY sex reversal 7 ⚠
- p.Gly278Arg Single submitter ⚠
- p.Gly372Ser Single submitter Inborn genetic diseases ⚠
- p.Gly51Ser Single submitter 46,XY sex reversal 7 ⚠
- p.His364Gln Single submitter Inborn genetic diseases ⚠
- p.Leu123= Single submitter 46,XY sex reversal 7
- p.Leu15Phe Single submitter Inborn genetic diseases ⚠
- p.Leu18Pro Single submitter Inborn genetic diseases ⚠
- p.Leu219Arg Single submitter 46,XY sex reversal 7 ⚠
- p.Leu267Val Single submitter 46,XY sex reversal 7 ⚠
- p.Leu386Val Single submitter ⚠
- p.Leu40Pro Single submitter 46,XY sex reversal 7 ⚠
- p.Phe242= Single submitter 46,XY sex reversal 7
- p.Phe274Leu Single submitter 46,XY sex reversal 7 ⚠
- p.Phe274Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe290Leu Single submitter Inborn genetic diseases ⚠
- p.Pro201Gln Single submitter 46,XY sex reversal 7 ⚠
- p.Pro303Ser Single submitter Inborn genetic diseases ⚠
- p.Pro327Gln Single submitter 46,XY sex reversal 7 ⚠
- p.Pro371Leu Single submitter 46,XY sex reversal 7 ⚠
- p.Pro377Gln Single submitter ⚠
- p.Pro377Thr Single submitter Inborn genetic diseases ⚠
- p.Pro83Ser Single submitter ⚠
- p.Thr268Lys Single submitter Inborn genetic diseases ⚠
- p.Thr268Met Single submitter 46,XY sex reversal 7 ⚠
- p.Tyr344Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr45= Single submitter 46,XY sex reversal 7
- p.Tyr45Cys Single submitter Inborn genetic diseases ⚠
- p.Val114Met Single submitter Inborn genetic diseases ⚠
- p.Val239Leu Single submitter Inborn genetic diseases ⚠
- p.Val300Gly Single submitter 46,XY sex reversal 7 ⚠
- p.Val41Leu Single submitter 46,XY sex reversal 7 ⚠
- p.Val41Met Single submitter Inborn genetic diseases ⚠
- p.Cys199Tyr No assertion criteria DHH-related disorder ⚠
- p.Gly305Arg No assertion criteria disorder of sexual differentiation ⚠