HID1 — 148 ClinVar variants

All ClinVar germline HID1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

6 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 5 Benign · 9 Likely benign · 124 Uncertain significance

Full HID1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 77

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

Predictors split 38

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

All HID1 variants

Pathogenic 6

p.Asp28fs Single submitter
p.Gly320fs Single submitter
p.Ser660fs Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Val774fs Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Arg433Trp No assertion criteria developmental and epileptic encephalopathy 105 with hypopituitarism
p.Gly187Asp No assertion criteria developmental and epileptic encephalopathy 105 with hypopituitarism

Likely pathogenic 3

c.1149+1G>T Single submitter
p.Ala754fs Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Arg668Ter Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 1

c.1009-1G>T Single submitter Inborn genetic diseases

Benign 5

c.1149+7C>T Multiple submitters
p.Gln130Glu Multiple submitters
p.His192Tyr Multiple submitters
c.728+5del Single submitter
p.Phe190= Single submitter

Likely benign 9

c.1150-10G>A Single submitter
c.2053-12G>A Single submitter
c.387+16C>T Single submitter
p.Arg787Gln Single submitter
p.His474= Single submitter
p.Phe757= Single submitter
p.Pro156= Single submitter
p.Pro693= Single submitter
p.Val290= Single submitter

Uncertain significance 124

p.Asp201Asn Multiple submitters developmental and epileptic encephalopathy 105 with hypopituitarism
p.Ser87Leu Multiple submitters ⚠
c.1392+5G>C Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Ala125Thr Single submitter ⚠
p.Ala191Val Single submitter ⚠
p.Ala258Ser Single submitter ⚠
p.Ala30Val Single submitter ⚠
p.Ala40Val Single submitter ⚠
p.Ala459Thr Single submitter ⚠
p.Ala523Thr Single submitter ⚠
p.Ala553Thr Single submitter ⚠
p.Ala655Ser Single submitter ⚠
p.Ala67Ser Single submitter ⚠
p.Ala754Thr Single submitter ⚠
p.Arg103Cys Single submitter ⚠
p.Arg103His Single submitter ⚠
p.Arg164Gln Single submitter ⚠
p.Arg277Trp Single submitter ⚠
p.Arg331Cys Single submitter ⚠
p.Arg334His Single submitter ⚠
p.Arg347Gln Single submitter ⚠
p.Arg415Trp Single submitter ⚠
p.Arg433Gln Single submitter ⚠
p.Arg438Gln Single submitter ⚠
p.Arg438Trp Single submitter ⚠
p.Arg446Cys Single submitter ⚠
p.Arg446His Single submitter ⚠
p.Arg556Cys Single submitter ⚠
p.Arg580Gln Single submitter ⚠
p.Arg580Trp Single submitter ⚠
p.Arg582Trp Single submitter ⚠
p.Arg583Gln Single submitter ⚠
p.Arg583Trp Single submitter ⚠
p.Arg603His Single submitter ⚠
p.Arg603Leu Single submitter ⚠
p.Arg639Gln Single submitter ⚠
p.Arg725Gln Single submitter ⚠
p.Arg725Trp Single submitter ⚠
p.Arg758fs Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Asn382Ser Single submitter ⚠
p.Asn769Lys Single submitter ⚠
p.Asp111Glu Single submitter ⚠
p.Asp201Tyr Single submitter ⚠
p.Asp293Glu Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Asp394Asn Single submitter ⚠
p.Asp412Asn Single submitter
p.Asp450Glu Single submitter ⚠
p.Asp5Asn Single submitter ⚠
p.Asp714His Single submitter ⚠
p.Asp719Glu Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism ⚠
p.Gln235Arg Single submitter ⚠
p.Gln34Arg Single submitter
p.Gln631Pro Single submitter ⚠
p.Gln661Lys Single submitter ⚠
p.Glu136Lys Single submitter ⚠
p.Glu278Gln Single submitter
p.Glu511Gly Single submitter ⚠
p.Glu720Lys Single submitter ⚠
p.Glu722Lys Single submitter ⚠
p.Gly124Arg Single submitter ⚠
p.Gly128Glu Single submitter ⚠
p.Gly265Arg Single submitter ⚠
p.Gly306Ser Single submitter ⚠
p.Gly611Asp Single submitter ⚠
p.His244Arg Single submitter ⚠
p.His270Tyr Single submitter ⚠
p.His474Gln Single submitter ⚠
p.His508Tyr Single submitter ⚠
p.Ile108Met Single submitter ⚠
p.Ile199Val Single submitter ⚠
p.Leu146Phe Single submitter ⚠
p.Leu280Pro Single submitter ⚠
p.Leu426Trp Single submitter ⚠
p.Leu686Val Single submitter ⚠
p.Leu8Pro Single submitter ⚠
p.Lys343Asn Single submitter
p.Lys625Arg Single submitter ⚠
p.Met219Thr Single submitter ⚠
p.Met500Ile Single submitter ⚠
p.Met698Thr Single submitter ⚠
p.Met698Val Single submitter ⚠
p.Phe325Ser Single submitter ⚠
p.Phe387Val Single submitter ⚠
p.Phe388Leu Single submitter ⚠
p.Phe520Ser Single submitter ⚠
p.Phe536Leu Single submitter ⚠
p.Pro140Ser Single submitter ⚠
p.Pro222Ser Single submitter ⚠
p.Pro225Ala Single submitter ⚠
p.Pro225Leu Single submitter ⚠
p.Pro247Leu Single submitter ⚠
p.Pro279Leu Single submitter ⚠
p.Pro51Leu Single submitter ⚠
p.Ser170Leu Single submitter ⚠
p.Ser42Leu Single submitter ⚠
p.Ser430Arg Single submitter ⚠
p.Ser514Thr Single submitter ⚠
p.Ser589Cys Single submitter ⚠
p.Ser616Ile Single submitter ⚠
p.Ser660Ile Single submitter ⚠
p.Ser690Leu Single submitter ⚠
p.Thr121= Single submitter developmental and epileptic encephalopathy 105 with hypopituitarism
p.Thr159Met Single submitter ⚠
p.Thr21Met Single submitter ⚠
p.Thr308Pro Single submitter ⚠
p.Thr39Arg Single submitter ⚠
p.Thr455Lys Single submitter
p.Thr457Ile Single submitter ⚠
p.Thr4Ser Single submitter ⚠
p.Thr591Asn Single submitter ⚠
p.Thr681Ala Single submitter ⚠
p.Thr681Met Single submitter ⚠
p.Trp663Arg Single submitter ⚠
p.Trp678Arg Single submitter ⚠
p.Trp756Leu Single submitter ⚠
p.Tyr259Cys Single submitter ⚠
p.Val304Met Single submitter ⚠
p.Val389Met Single submitter ⚠
p.Val395Ile Single submitter ⚠
p.Val447Met Single submitter ⚠
p.Val488Met Single submitter ⚠
p.Val491Ala Single submitter ⚠
p.Val685Ile Single submitter ⚠