HM13 — 42 ClinVar variants
All ClinVar germline HM13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
42 Uncertain significance
Full HM13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HM13 p.Ala58Ser Uncertain significance Single submitter
- HM13 p.Ala75Thr Uncertain significance Single submitter
- HM13 p.Arg136Gln Uncertain significance Single submitter
- HM13 p.Arg179Lys Uncertain significance Single submitter
- HM13 p.Asp219Tyr Uncertain significance Single submitter
- HM13 p.Asp7Asn Uncertain significance Single submitter
- HM13 p.Gln144Glu Uncertain significance Single submitter
- HM13 p.Glu14Val Uncertain significance Single submitter
- HM13 p.Glu254Lys Uncertain significance Single submitter
- HM13 p.Gly11Val Uncertain significance Single submitter
- HM13 p.Gly16Asp Uncertain significance Single submitter
- HM13 p.Gly301Ser Uncertain significance Single submitter
- HM13 p.His9Tyr Uncertain significance Single submitter
- HM13 p.Ile217Val Uncertain significance Single submitter
- HM13 p.Ile32Thr Uncertain significance Single submitter
- HM13 p.Ile80Val Uncertain significance Single submitter
- HM13 p.Leu115Val Uncertain significance Single submitter
- HM13 p.Leu194Phe Uncertain significance Single submitter
- HM13 p.Leu41Phe Uncertain significance Single submitter
- HM13 p.Lys251Arg Uncertain significance Single submitter
- HM13 p.Lys94Arg Uncertain significance Single submitter
- HM13 p.Met343Leu Uncertain significance Single submitter
- HM13 p.Pro25Ser Uncertain significance Single submitter
- HM13 p.Pro330Leu Uncertain significance Single submitter
- HM13 p.Ser146Ala Uncertain significance Single submitter
- HM13 p.Thr413Ile Uncertain significance Single submitter
- HM13 p.Val172Ile Uncertain significance Single submitter
- HM13 p.Val174Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All HM13 variants
Uncertain significance 42
- p.Ala350Val Single submitter
- p.Ala393Thr Single submitter
- p.Ala58Ser Single submitter ⚠
- p.Ala75Thr Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg179Lys Single submitter ⚠
- p.Arg385Cys Single submitter
- p.Arg386Gln Single submitter
- p.Arg387His Single submitter
- p.Asp219Tyr Single submitter ⚠
- p.Asp374Asn Single submitter
- p.Asp7Asn Single submitter ⚠
- p.Gln144Glu Single submitter ⚠
- p.Gln378Pro Single submitter
- p.Glu14Val Single submitter ⚠
- p.Glu254Lys Single submitter ⚠
- p.Gly11Val Single submitter ⚠
- p.Gly147Arg Single submitter
- p.Gly16Asp Single submitter ⚠
- p.Gly301Ser Single submitter ⚠
- p.His9Tyr Single submitter ⚠
- p.Ile217Val Single submitter ⚠
- p.Ile32Thr Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Leu194Phe Single submitter ⚠
- p.Leu41Phe Single submitter ⚠
- p.Lys251Arg Single submitter ⚠
- p.Lys94Arg Single submitter ⚠
- p.Met343Leu Single submitter ⚠
- p.Phe329Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro330Leu Single submitter ⚠
- p.Pro357Leu Single submitter
- p.Pro388Leu Single submitter
- p.Ser146Ala Single submitter ⚠
- p.Ser349Leu Single submitter
- p.Ser375Cys Single submitter
- p.Thr413Ile Single submitter ⚠
- p.Tyr138Cys Single submitter ⚠
- p.Val172Ile Single submitter ⚠
- p.Val174Ile Single submitter ⚠