H1-3 — 117 ClinVar variants

All ClinVar germline H1-3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

10 Likely benign · 107 Uncertain significance

Full H1-3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 70

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

Predictors split 35

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

All H1-3 variants

Likely benign 10

p.Ala195Val Single submitter
p.Ala24Val Single submitter
p.Ala27Thr Single submitter
p.Lys185_Ala186delinsThr Single submitter
p.Thr10Ala Single submitter
p.Thr164Ala Single submitter
p.Thr18= Single submitter
p.Thr180Ala Single submitter
p.Thr30Ala Single submitter
p.Val142Ala Single submitter

Uncertain significance 107

p.Ala112Val Single submitter ⚠
p.Ala113Val Single submitter ⚠
p.Ala124Gly Single submitter ⚠
p.Ala124Thr Single submitter ⚠
p.Ala133Thr Single submitter ⚠
p.Ala13Thr Single submitter ⚠
p.Ala146Val Single submitter ⚠
p.Ala15Pro Single submitter ⚠
p.Ala163Thr Single submitter ⚠
p.Ala165Gly Single submitter ⚠
p.Ala165Ser Single submitter ⚠
p.Ala166Asp Single submitter ⚠
p.Ala166Val Single submitter ⚠
p.Ala186Asp Single submitter ⚠
p.Ala186Gly Single submitter ⚠
p.Ala186Thr Single submitter ⚠
p.Ala193Thr Single submitter ⚠
p.Ala193Val Single submitter ⚠
p.Ala201Gly Single submitter ⚠
p.Ala213Thr Single submitter ⚠
p.Ala216Gly Single submitter ⚠
p.Ala216Pro Single submitter ⚠
p.Ala24Thr Single submitter ⚠
p.Ala27Glu Single submitter ⚠
p.Ala29Pro Single submitter ⚠
p.Ala36Pro Single submitter ⚠
p.Ala36Thr Single submitter ⚠
p.Ala51Val Single submitter ⚠
p.Ala5Asp Single submitter
p.Ala5Thr Single submitter ⚠
p.Ala61Val Single submitter ⚠
p.Ala68Val Single submitter ⚠
p.Ala69Thr Single submitter ⚠
p.Ala69Val Single submitter ⚠
p.Ala70Thr Single submitter ⚠
p.Ala8Thr Single submitter ⚠
p.Ala8Val Single submitter ⚠
p.Asn109Lys Single submitter ⚠
p.Asn78Ser Single submitter ⚠
p.Gln96His Single submitter ⚠
p.Glu75Ala Single submitter ⚠
p.Glu75Asp Single submitter ⚠
p.Glu75Gly Single submitter ⚠
p.Glu75Lys Single submitter ⚠
p.Gly134Val Single submitter ⚠
p.Gly28Ser Single submitter ⚠
p.Gly32Ala Single submitter ⚠
p.Gly32Arg Single submitter ⚠
p.Gly57Asp Single submitter ⚠
p.Gly71Ala Single submitter ⚠
p.Gly92Ser Single submitter ⚠
p.Gly99Ser Single submitter ⚠
p.Ile11Leu Single submitter ⚠
p.Ile11Val Single submitter ⚠
p.Leu85Phe Single submitter ⚠
p.Leu85Val Single submitter ⚠
p.Lys111Asn Single submitter ⚠
p.Lys122Gln Single submitter ⚠
p.Lys138Asn Single submitter ⚠
p.Lys153Arg Single submitter ⚠
p.Lys157Thr Single submitter ⚠
p.Lys158Gln Single submitter ⚠
p.Lys160Arg Single submitter ⚠
p.Lys161Glu Single submitter ⚠
p.Lys170Gln Single submitter ⚠
p.Lys176Gln Single submitter ⚠
p.Lys177Asn Single submitter ⚠
p.Lys185Glu Single submitter ⚠
p.Lys192Glu Single submitter ⚠
p.Lys214Arg Single submitter ⚠
p.Lys21Met Single submitter ⚠
p.Lys22Glu Single submitter ⚠
p.Lys23Arg Single submitter ⚠
p.Lys25Arg Single submitter ⚠
p.Lys26Thr Single submitter ⚠
p.Lys53Glu Single submitter
p.Pro119Leu Single submitter ⚠
p.Pro119Ser Single submitter ⚠
p.Pro129Ser Single submitter ⚠
p.Pro148Ser Single submitter ⚠
p.Pro148Thr Single submitter ⚠
p.Pro14Leu Single submitter ⚠
p.Pro190Ser Single submitter ⚠
p.Pro196Leu Single submitter ⚠
p.Pro19Arg Single submitter ⚠
p.Pro203Leu Single submitter ⚠
p.Pro203Ser Single submitter ⚠
p.Pro208Leu Single submitter ⚠
p.Pro218Arg Single submitter ⚠
p.Pro40Ala Single submitter ⚠
p.Pro9Leu Single submitter ⚠
p.Pro9Ser Single submitter ⚠
p.Ser2Leu Single submitter ⚠
p.Ser2Pro Single submitter ⚠
p.Ser37Phe Single submitter ⚠
p.Ser52Phe Single submitter ⚠
p.Ser56Cys Single submitter ⚠
p.Ser56Thr Single submitter ⚠
p.Ser59Phe Single submitter ⚠
p.Thr100Ile Single submitter ⚠
p.Thr147Asn Single submitter ⚠
p.Thr211Ala Single submitter ⚠
p.Thr211Ser Single submitter ⚠
p.Thr97Ile Single submitter ⚠
p.Val159Glu Single submitter ⚠
p.Val171Ala Single submitter ⚠
p.Val95Leu Single submitter ⚠