H1-2 — 124 ClinVar variants
All ClinVar germline H1-2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
5 Likely benign · 119 Uncertain significance
Full H1-2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- H1-2 p.Ala10Pro Uncertain significance Single submitter
- H1-2 p.Ala112Val Uncertain significance Single submitter
- H1-2 p.Ala11Thr Uncertain significance Single submitter
- H1-2 p.Ala12Ser Uncertain significance Single submitter
- H1-2 p.Ala135Pro Uncertain significance Single submitter
- H1-2 p.Ala15Val Uncertain significance Single submitter
- H1-2 p.Ala162Thr Uncertain significance Single submitter
- H1-2 p.Ala171Pro Uncertain significance Single submitter
- H1-2 p.Ala180Gly Uncertain significance Single submitter
- H1-2 p.Ala189Val Uncertain significance Single submitter
- H1-2 p.Ala190Val Uncertain significance Single submitter
- H1-2 p.Ala192Pro Uncertain significance Single submitter
- H1-2 p.Ala198Thr Uncertain significance Single submitter
- H1-2 p.Ala208Val Uncertain significance Single submitter
- H1-2 p.Ala25Thr Uncertain significance Single submitter
- H1-2 p.Ala28Gly Uncertain significance Single submitter
- H1-2 p.Ala50Ser Uncertain significance Single submitter
- H1-2 p.Ala65Thr Uncertain significance Single submitter
- H1-2 p.Ala68Ser Uncertain significance Single submitter
- H1-2 p.Ala69Val Uncertain significance Single submitter
- H1-2 p.Ala7Thr Uncertain significance Single submitter
- H1-2 p.Ala8Thr Uncertain significance Single submitter
- H1-2 p.Asn76Tyr Uncertain significance Single submitter
- H1-2 p.Asp72Glu Uncertain significance Single submitter
- H1-2 p.Gln95Glu Uncertain significance Single submitter
- H1-2 p.Glu74Asp Uncertain significance Single submitter
- H1-2 p.Gly114Ala Uncertain significance Single submitter
- H1-2 p.Gly114Glu Uncertain significance Single submitter
- H1-2 p.Gly143Ala Uncertain significance Single submitter
- H1-2 p.Gly30Ala Uncertain significance Single submitter
- H1-2 p.Gly30Ser Uncertain significance Single submitter
- H1-2 p.Gly91Ser Uncertain significance Single submitter
- H1-2 p.Ile80Val Uncertain significance Single submitter
- H1-2 p.Leu62Met Uncertain significance Single submitter
- H1-2 p.Lys130Arg Uncertain significance Single submitter
- H1-2 p.Lys136Arg Uncertain significance Single submitter
- H1-2 p.Lys148Arg Uncertain significance Single submitter
- H1-2 p.Lys152Thr Uncertain significance Single submitter
- H1-2 p.Lys172Thr Uncertain significance Single submitter
- H1-2 p.Lys212Arg Uncertain significance Single submitter
- H1-2 p.Lys23Thr Uncertain significance Single submitter
- H1-2 p.Lys46Asn Uncertain significance Single submitter
- H1-2 p.Pro138Thr Uncertain significance Single submitter
- H1-2 p.Pro13Leu Uncertain significance Single submitter
- H1-2 p.Pro13Ser Uncertain significance Single submitter
- H1-2 p.Pro147Ala Uncertain significance Single submitter
- H1-2 p.Pro161Ser Uncertain significance Single submitter
- H1-2 p.Pro19Ala Uncertain significance Single submitter
- H1-2 p.Pro205Ala Uncertain significance Single submitter
- H1-2 p.Pro210Ser Uncertain significance Single submitter
- H1-2 p.Pro6Ala Uncertain significance Single submitter
- H1-2 p.Ser173Thr Uncertain significance Single submitter
- H1-2 p.Ser188Asn Uncertain significance Single submitter
- H1-2 p.Ser55Asn Uncertain significance Single submitter
- H1-2 p.Ser58Cys Uncertain significance Single submitter
- H1-2 p.Thr126Ser Uncertain significance Single submitter
- H1-2 p.Thr92Ile Uncertain significance Single submitter
- H1-2 p.Thr99Ile Uncertain significance Single submitter
- H1-2 p.Tyr71Cys Uncertain significance Single submitter
- H1-2 p.Val120Leu Uncertain significance Single submitter
- H1-2 p.Val132Gly Uncertain significance Single submitter
- H1-2 p.Val132Ile Uncertain significance Single submitter
- H1-2 p.Val202Ile Uncertain significance Single submitter
- H1-2 p.Val202Leu Uncertain significance Single submitter
- H1-2 p.Val73Met Uncertain significance Single submitter
- H1-2 p.Val88Leu Uncertain significance Single submitter
- H1-2 p.Val88Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- H1-2 p.Ala47Thr Uncertain significance Single submitter
- H1-2 p.Ala50Val Uncertain significance Single submitter
- H1-2 p.Asn108Lys Uncertain significance Single submitter
- H1-2 p.Gly37Cys Uncertain significance Single submitter
- H1-2 p.Gly37Ser Uncertain significance Single submitter
- H1-2 p.Leu82Val Uncertain significance Single submitter
- H1-2 p.Lys119Asn Uncertain significance Single submitter
- H1-2 p.Lys122Gln Uncertain significance Single submitter
- H1-2 p.Lys136Gln Uncertain significance Single submitter
- H1-2 p.Lys153Asn Uncertain significance Single submitter
- H1-2 p.Lys156Asn Uncertain significance Single submitter
- H1-2 p.Lys157Asn Uncertain significance Single submitter
- H1-2 p.Lys159Gln Uncertain significance Single submitter
- H1-2 p.Lys168Asn Uncertain significance Single submitter
- H1-2 p.Lys168Glu Uncertain significance Single submitter
- H1-2 p.Lys169Gln Uncertain significance Single submitter
- H1-2 p.Lys176Asn Uncertain significance Single submitter
- H1-2 p.Lys184Gln Uncertain significance Single submitter
- H1-2 p.Lys184Glu Uncertain significance Single submitter
- H1-2 p.Lys191Glu Uncertain significance Single submitter
- H1-2 p.Lys201Gln Uncertain significance Single submitter
- H1-2 p.Lys212Asn Uncertain significance Single submitter
- H1-2 p.Lys23Glu Uncertain significance Single submitter
- H1-2 p.Lys26Glu Uncertain significance Single submitter
- H1-2 p.Lys34Met Uncertain significance Single submitter
- H1-2 p.Lys81Arg Uncertain significance Single submitter
- H1-2 p.Pro138Leu Uncertain significance Single submitter
- H1-2 p.Pro147Arg Uncertain significance Single submitter
- H1-2 p.Pro147Leu Uncertain significance Single submitter
- H1-2 p.Pro155Gln Uncertain significance Single submitter
- H1-2 p.Pro155Leu Uncertain significance Single submitter
- H1-2 p.Pro155Ser Uncertain significance Single submitter
- H1-2 p.Pro174Leu Uncertain significance Single submitter
- H1-2 p.Pro174Ser Uncertain significance Single submitter
- H1-2 p.Pro182Ser Uncertain significance Single submitter
- H1-2 p.Pro195Leu Uncertain significance Single submitter
- H1-2 p.Pro195Ser Uncertain significance Single submitter
- H1-2 p.Pro19Leu Uncertain significance Single submitter
- H1-2 p.Pro205Leu Uncertain significance Single submitter
- H1-2 p.Pro32Leu Uncertain significance Single submitter
- H1-2 p.Pro38Thr Uncertain significance Single submitter
- H1-2 p.Pro9Leu Uncertain significance Single submitter
- H1-2 p.Ser150Arg Uncertain significance Single submitter
- H1-2 p.Ser173Arg Uncertain significance Single submitter
- H1-2 p.Ser173Ile Uncertain significance Single submitter
- H1-2 p.Ser2Phe Uncertain significance Single submitter
- H1-2 p.Thr154Ile Uncertain significance Single submitter
- H1-2 p.Thr165Ile Uncertain significance Single submitter
- H1-2 p.Thr96Ala Uncertain significance Single submitter
- H1-2 p.Thr99Ser Uncertain significance Single submitter
- H1-2 p.Val94Met Uncertain significance Single submitter
All H1-2 variants
Likely benign 5
- p.Ala18Thr Single submitter
- p.Ala7Val Single submitter
- p.Gly29Ala Single submitter
- p.Lys139Arg Single submitter
- p.Pro128Ala Single submitter
Uncertain significance 119
- p.Ala10Pro Single submitter ⚠
- p.Ala112Val Single submitter ⚠
- p.Ala11Thr Single submitter ⚠
- p.Ala12Ser Single submitter ⚠
- p.Ala135Pro Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Ala162Thr Single submitter ⚠
- p.Ala171Pro Single submitter ⚠
- p.Ala180Gly Single submitter ⚠
- p.Ala189Val Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala192Pro Single submitter ⚠
- p.Ala198Thr Single submitter ⚠
- p.Ala208Val Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala28Gly Single submitter ⚠
- p.Ala47Thr Single submitter ⚠
- p.Ala50Ser Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala65Thr Single submitter ⚠
- p.Ala68Ser Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Asn108Lys Single submitter ⚠
- p.Asn76Tyr Single submitter ⚠
- p.Asp72Glu Single submitter ⚠
- p.Gln95Glu Single submitter ⚠
- p.Glu74Asp Single submitter ⚠
- p.Gly114Ala Single submitter ⚠
- p.Gly114Glu Single submitter ⚠
- p.Gly143Ala Single submitter ⚠
- p.Gly30Ala Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly37Cys Single submitter ⚠
- p.Gly37Ser Single submitter ⚠
- p.Gly91Ser Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Leu62Met Single submitter ⚠
- p.Leu82Val Single submitter ⚠
- p.Lys119Asn Single submitter ⚠
- p.Lys122Gln Single submitter ⚠
- p.Lys130Arg Single submitter ⚠
- p.Lys136Arg Single submitter ⚠
- p.Lys136Gln Single submitter ⚠
- p.Lys148Arg Single submitter ⚠
- p.Lys152Thr Single submitter ⚠
- p.Lys153Asn Single submitter ⚠
- p.Lys156Asn Single submitter ⚠
- p.Lys157Asn Single submitter ⚠
- p.Lys159Gln Single submitter ⚠
- p.Lys168Asn Single submitter ⚠
- p.Lys168Glu Single submitter ⚠
- p.Lys169Gln Single submitter ⚠
- p.Lys172Thr Single submitter ⚠
- p.Lys176Asn Single submitter ⚠
- p.Lys184Gln Single submitter ⚠
- p.Lys184Glu Single submitter ⚠
- p.Lys191Glu Single submitter ⚠
- p.Lys201Gln Single submitter ⚠
- p.Lys212Arg Single submitter ⚠
- p.Lys212Asn Single submitter ⚠
- p.Lys23Glu Single submitter ⚠
- p.Lys23Thr Single submitter ⚠
- p.Lys26Glu Single submitter ⚠
- p.Lys34Met Single submitter ⚠
- p.Lys46Asn Single submitter ⚠
- p.Lys52Glu Single submitter
- p.Lys81Arg Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro138Thr Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro147Arg Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro155Gln Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro155Ser Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro195Ser Single submitter ⚠
- p.Pro19Ala Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro205Ala Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro38Thr Single submitter ⚠
- p.Pro6Ala Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser150Arg Single submitter ⚠
- p.Ser173Arg Single submitter ⚠
- p.Ser173Ile Single submitter ⚠
- p.Ser173Thr Single submitter ⚠
- p.Ser188Asn Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Ser58Cys Single submitter ⚠
- p.Thr126Ser Single submitter ⚠
- p.Thr154Ile Single submitter ⚠
- p.Thr165Ile Single submitter ⚠
- p.Thr92Ile Single submitter ⚠
- p.Thr96Ala Single submitter ⚠
- p.Thr99Ile Single submitter ⚠
- p.Thr99Ser Single submitter ⚠
- p.Tyr71Cys Single submitter ⚠
- p.Val120Leu Single submitter ⚠
- p.Val132Gly Single submitter ⚠
- p.Val132Ile Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val202Leu Single submitter ⚠
- p.Val73Met Single submitter ⚠
- p.Val88Leu Single submitter ⚠
- p.Val88Met Single submitter ⚠
- p.Val94Met Single submitter ⚠