HAGH — 50 ClinVar variants
All ClinVar germline HAGH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Likely benign · 48 Uncertain significance
Full HAGH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HAGH p.Ala15Val Uncertain significance Single submitter
- HAGH p.Ala187Val Uncertain significance Single submitter
- HAGH p.Ala18Val Uncertain significance Single submitter
- HAGH p.Ala264Thr Uncertain significance Single submitter
- HAGH p.Ala284Thr Uncertain significance Single submitter
- HAGH p.Arg232His Uncertain significance Single submitter
- HAGH p.Arg242Trp Uncertain significance Single submitter
- HAGH p.Arg294Gln Uncertain significance Single submitter
- HAGH p.Arg297His Uncertain significance Single submitter
- HAGH p.Arg307Gln Uncertain significance Single submitter
- HAGH p.Asp214Asn Uncertain significance Single submitter
- HAGH p.Asp68His Uncertain significance Single submitter
- HAGH p.Asp68Val Uncertain significance Single submitter
- HAGH p.Cys219Arg Uncertain significance Single submitter
- HAGH p.Glu118Asp Uncertain significance Single submitter
- HAGH p.Glu46Lys Uncertain significance Single submitter
- HAGH p.Gly125Arg Uncertain significance Single submitter
- HAGH p.Gly126Asp Uncertain significance Single submitter
- HAGH p.Gly126Val Uncertain significance Single submitter
- HAGH p.Gly188Val Uncertain significance Single submitter
- HAGH p.Gly220Asp Uncertain significance Single submitter
- HAGH p.Gly24Ser Uncertain significance Single submitter
- HAGH p.Gly255Arg Uncertain significance Single submitter
- HAGH p.Leu30Val Uncertain significance Single submitter
- HAGH p.Lys300Glu Uncertain significance Single submitter
- HAGH p.Lys304Arg Uncertain significance Single submitter
- HAGH p.Lys40Arg Uncertain significance Single submitter
- HAGH p.Lys90Gln Uncertain significance Single submitter
- HAGH p.Met62Ile Uncertain significance Single submitter
- HAGH p.Phe303Leu Uncertain significance Single submitter
- HAGH p.Pro156Gln Uncertain significance Single submitter
- HAGH p.Pro156Ser Uncertain significance Single submitter
- HAGH p.Pro176Ser Uncertain significance Single submitter
- HAGH p.Ser12Arg Uncertain significance Single submitter
- HAGH p.Thr100Ile Uncertain significance Single submitter
- HAGH p.Tyr252Asn Uncertain significance Single submitter
- HAGH p.Val150Ile Uncertain significance Single submitter
- HAGH p.Val234Met Uncertain significance Single submitter
- HAGH p.Val44Met Uncertain significance Single submitter
- HAGH p.Val51Ala Uncertain significance Single submitter
- HAGH p.Val85Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- HAGH p.Asn238Ser Uncertain significance Single submitter
- HAGH p.Gln144Pro Uncertain significance Single submitter
- HAGH p.Gly237Val Uncertain significance Single submitter
- HAGH p.Gly92Arg Uncertain significance Single submitter
- HAGH p.Pro212Thr Uncertain significance Single submitter
- HAGH p.Thr262Ala Uncertain significance Single submitter
All HAGH variants
Likely benign 2
- p.Ala87Thr Single submitter
- p.Ile137Val Single submitter
Uncertain significance 48
- p.Ala15Val Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala264Thr Single submitter ⚠
- p.Ala284Thr Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg297His Single submitter ⚠
- p.Arg307Gln Single submitter ⚠
- p.Asn238Ser Single submitter ⚠
- p.Asp214Asn Single submitter ⚠
- p.Asp68His Single submitter ⚠
- p.Asp68Val Single submitter ⚠
- p.Cys219Arg Single submitter ⚠
- p.Gln144Pro Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly125Arg Single submitter ⚠
- p.Gly126Asp Single submitter ⚠
- p.Gly126Val Single submitter ⚠
- p.Gly188Val Single submitter ⚠
- p.Gly220Asp Single submitter ⚠
- p.Gly237Val Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly255Arg Single submitter ⚠
- p.Gly92Arg Single submitter ⚠
- p.Leu30Val Single submitter ⚠
- p.Lys300Glu Single submitter ⚠
- p.Lys304Arg Single submitter ⚠
- p.Lys40Arg Single submitter ⚠
- p.Lys90Gln Single submitter ⚠
- p.Met62Ile Single submitter ⚠
- p.Phe303Leu Single submitter ⚠
- p.Pro156Gln Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Pro176Ser Single submitter ⚠
- p.Pro212Thr Single submitter ⚠
- p.Ser12Arg Single submitter ⚠
- p.Thr100Ile Single submitter ⚠
- p.Thr262Ala Single submitter ⚠
- p.Thr58Ile Single submitter
- p.Tyr252Asn Single submitter ⚠
- p.Val150Ile Single submitter ⚠
- p.Val234Met Single submitter ⚠
- p.Val44Met Single submitter ⚠
- p.Val51Ala Single submitter ⚠
- p.Val85Met Single submitter ⚠