H1-0 — 28 ClinVar variants
All ClinVar germline H1-0 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
3 Likely benign · 25 Uncertain significance
Full H1-0 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- H1-0 p.Ala123Val Uncertain significance Single submitter
- H1-0 p.Ala133Thr Uncertain significance Single submitter
- H1-0 p.Ala152Pro Uncertain significance Single submitter
- H1-0 p.Ala152Val Uncertain significance Single submitter
- H1-0 p.Glu39Asp Uncertain significance Single submitter
- H1-0 p.Ile32Met Uncertain significance Single submitter
- H1-0 p.Ile72Leu Uncertain significance Single submitter
- H1-0 p.Lys109Glu Uncertain significance Single submitter
- H1-0 p.Lys125Arg Uncertain significance Single submitter
- H1-0 p.Pro142Arg Uncertain significance Single submitter
- H1-0 p.Pro160Ser Uncertain significance Single submitter
- H1-0 p.Ser186Arg Uncertain significance Single submitter
- H1-0 p.Ser71Ala Uncertain significance Single submitter
- H1-0 p.Thr135Asn Uncertain significance Single submitter
- H1-0 p.Thr2Ile Uncertain significance Single submitter
- H1-0 p.Thr77Ser Uncertain significance Single submitter
- H1-0 p.Val117Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- H1-0 p.Gln51Glu Uncertain significance Single submitter
- H1-0 p.Lys103Asn Uncertain significance Single submitter
- H1-0 p.Lys127Glu Uncertain significance Single submitter
- H1-0 p.Lys136Glu Uncertain significance Single submitter
- H1-0 p.Lys161Gln Uncertain significance Single submitter
- H1-0 p.Pro142Leu Uncertain significance Single submitter
- H1-0 p.Pro181His Uncertain significance Single submitter
- H1-0 p.Val87Met Uncertain significance Single submitter
All H1-0 variants
Likely benign 3
- p.Ala16= Single submitter
- p.Ala8Thr Single submitter
- p.Ile114Val Single submitter
Uncertain significance 25
- p.Ala123Val Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala152Pro Single submitter ⚠
- p.Ala152Val Single submitter ⚠
- p.Gln51Glu Single submitter ⚠
- p.Glu39Asp Single submitter ⚠
- p.Ile32Met Single submitter ⚠
- p.Ile72Leu Single submitter ⚠
- p.Lys103Asn Single submitter ⚠
- p.Lys109Glu Single submitter ⚠
- p.Lys125Arg Single submitter ⚠
- p.Lys127Glu Single submitter ⚠
- p.Lys136Glu Single submitter ⚠
- p.Lys161Gln Single submitter ⚠
- p.Pro142Arg Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro160Ser Single submitter ⚠
- p.Pro181His Single submitter ⚠
- p.Ser186Arg Single submitter ⚠
- p.Ser71Ala Single submitter ⚠
- p.Thr135Asn Single submitter ⚠
- p.Thr2Ile Single submitter ⚠
- p.Thr77Ser Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val87Met Single submitter ⚠