AOAH — 91 ClinVar variants
All ClinVar germline AOAH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
12 Likely benign · 79 Uncertain significance
Full AOAH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AOAH p.Ala364Val Uncertain significance Single submitter
- AOAH p.Ala504Val Uncertain significance Single submitter
- AOAH p.Arg202Trp Uncertain significance Single submitter
- AOAH p.Arg356Gly Uncertain significance Single submitter
- AOAH p.Asn340His Uncertain significance Single submitter
- AOAH p.Asn532Ser Uncertain significance Single submitter
- AOAH p.Asp205Glu Uncertain significance Single submitter
- AOAH p.Asp309His Uncertain significance Single submitter
- AOAH p.Cys123Tyr Uncertain significance Single submitter
- AOAH p.Cys230Tyr Uncertain significance Single submitter
- AOAH p.Gln170Arg Uncertain significance Single submitter
- AOAH p.Gln178His Uncertain significance Single submitter
- AOAH p.Gln567Arg Uncertain significance Single submitter
- AOAH p.Gln56Arg Uncertain significance Single submitter
- AOAH p.Gln63Arg Uncertain significance Single submitter
- AOAH p.Glu352Asp Uncertain significance Single submitter
- AOAH p.Gly119Ser Uncertain significance Single submitter
- AOAH p.Gly203Arg Uncertain significance Single submitter
- AOAH p.Gly251Asp Uncertain significance Single submitter
- AOAH p.Gly38Arg Uncertain significance Single submitter
- AOAH p.His225Arg Uncertain significance Single submitter
- AOAH p.His402Gln Uncertain significance Single submitter
- AOAH p.His506Arg Uncertain significance Single submitter
- AOAH p.Ile51Val Uncertain significance Single submitter
- AOAH p.Ile565Val Uncertain significance Single submitter
- AOAH p.Leu296Pro Uncertain significance Single submitter
- AOAH p.Leu35Val Uncertain significance Single submitter
- AOAH p.Leu54Phe Uncertain significance Single submitter
- AOAH p.Lys317Arg Uncertain significance Single submitter
- AOAH p.Lys546Gln Uncertain significance Single submitter
- AOAH p.Lys89Thr Uncertain significance Single submitter
- AOAH p.Met176Val Uncertain significance Single submitter
- AOAH p.Met501Val Uncertain significance Single submitter
- AOAH p.Phe450Val Uncertain significance Single submitter
- AOAH p.Pro148Leu Uncertain significance Single submitter
- AOAH p.Pro25Leu Uncertain significance Single submitter
- AOAH p.Pro419Ala Uncertain significance Single submitter
- AOAH p.Ser191Asn Uncertain significance Single submitter
- AOAH p.Ser263Leu Uncertain significance Single submitter
- AOAH p.Ser310Ala Uncertain significance Single submitter
- AOAH p.Ser353Gly Uncertain significance Single submitter
- AOAH p.Ser380Ile Uncertain significance Single submitter
- AOAH p.Ser60Leu Uncertain significance Single submitter
- AOAH p.Thr110Ala Uncertain significance Single submitter
- AOAH p.Thr422Asn Uncertain significance Single submitter
- AOAH p.Thr483Ile Uncertain significance Single submitter
- AOAH p.Tyr199Cys Uncertain significance Single submitter
- AOAH p.Tyr416His Uncertain significance Single submitter
- AOAH p.Val185Met Uncertain significance Single submitter
- AOAH p.Val375Ile Uncertain significance Single submitter
- AOAH p.Val50Ile Uncertain significance Single submitter
- AOAH p.Val526Met Uncertain significance Single submitter
- AOAH p.Val547Leu Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- AOAH p.Ala445Val Uncertain significance Single submitter
- AOAH p.Ala540Val Uncertain significance Single submitter
- AOAH p.Arg197Gln Uncertain significance Single submitter
- AOAH p.Arg322Cys Uncertain significance Single submitter
- AOAH p.Arg322Ser Uncertain significance Single submitter
- AOAH p.Asn357Tyr Uncertain significance Single submitter
- AOAH p.Asp237Asn Uncertain significance Single submitter
- AOAH p.Asp240Tyr Uncertain significance Single submitter
- AOAH p.Asp426Asn Uncertain significance Single submitter
- AOAH p.Asp541His Uncertain significance Single submitter
- AOAH p.Asp93His Uncertain significance Single submitter
- AOAH p.Gly378Arg Uncertain significance Single submitter
- AOAH p.Gly461Ser Uncertain significance Single submitter
- AOAH p.Gly516Asp Uncertain significance Single submitter
- AOAH p.Gly574Arg Uncertain significance Single submitter
- AOAH p.Ile351Thr Uncertain significance Single submitter
- AOAH p.Leu301Val Uncertain significance Single submitter
- AOAH p.Leu400Met Uncertain significance Single submitter
- AOAH p.Leu407Met Uncertain significance Single submitter
- AOAH p.Leu415Phe Likely benign Single submitter
- AOAH p.Pro74Ser Uncertain significance Single submitter
- AOAH p.Ser191Thr Uncertain significance Single submitter
- AOAH p.Ser278Leu Uncertain significance Single submitter
- AOAH p.Ser31Tyr Uncertain significance Single submitter
- AOAH p.Thr387Pro Uncertain significance Single submitter
- AOAH p.Thr422Ile Uncertain significance Single submitter
- AOAH p.Tyr416Cys Uncertain significance Single submitter
All AOAH variants
Likely benign 12
- p.Arg345Gln Single submitter
- p.Asn562= Single submitter
- p.Asp210Asn Single submitter
- p.Glu211Lys Single submitter
- p.Gly517Ter Single submitter
- p.Gly573= Single submitter
- p.Gly574= Single submitter
- p.Leu415Phe Single submitter ⚠
- p.Met442Val Single submitter
- p.Phe14Leu Single submitter
- p.Trp324Arg Single submitter
- p.Val192Ile Single submitter
Uncertain significance 79
- p.Ala364Val Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala504Val Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg322Cys Single submitter ⚠
- p.Arg322Ser Single submitter ⚠
- p.Arg356Gly Single submitter ⚠
- p.Asn340His Single submitter ⚠
- p.Asn357Tyr Single submitter ⚠
- p.Asn532Ser Single submitter ⚠
- p.Asp205Glu Single submitter ⚠
- p.Asp237Asn Single submitter ⚠
- p.Asp240Tyr Single submitter ⚠
- p.Asp309His Single submitter ⚠
- p.Asp426Asn Single submitter ⚠
- p.Asp541His Single submitter ⚠
- p.Asp93His Single submitter ⚠
- p.Cys123Tyr Single submitter ⚠
- p.Cys230Tyr Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln178His Single submitter ⚠
- p.Gln567Arg Single submitter ⚠
- p.Gln56Arg Single submitter ⚠
- p.Gln63Arg Single submitter ⚠
- p.Glu352Asp Single submitter ⚠
- p.Gly119Ser Single submitter ⚠
- p.Gly203Arg Single submitter ⚠
- p.Gly251Asp Single submitter ⚠
- p.Gly378Arg Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly461Ser Single submitter ⚠
- p.Gly516Asp Single submitter ⚠
- p.Gly574Arg Single submitter ⚠
- p.His225Arg Single submitter ⚠
- p.His402Gln Single submitter ⚠
- p.His506Arg Single submitter ⚠
- p.Ile351Thr Single submitter ⚠
- p.Ile51Val Single submitter ⚠
- p.Ile565Val Single submitter ⚠
- p.Leu296Pro Single submitter ⚠
- p.Leu301Val Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu400Met Single submitter ⚠
- p.Leu407Met Single submitter ⚠
- p.Leu54Phe Single submitter ⚠
- p.Lys317Arg Single submitter ⚠
- p.Lys546Gln Single submitter ⚠
- p.Lys89Thr Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Met501Val Single submitter ⚠
- p.Phe450Val Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro419Ala Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Ser191Asn Single submitter ⚠
- p.Ser191Thr Single submitter ⚠
- p.Ser263Leu Single submitter ⚠
- p.Ser278Leu Single submitter ⚠
- p.Ser310Ala Single submitter ⚠
- p.Ser31Tyr Single submitter ⚠
- p.Ser353Gly Single submitter ⚠
- p.Ser380Ile Single submitter ⚠
- p.Ser60Leu Single submitter ⚠
- p.Thr110Ala Single submitter ⚠
- p.Thr387Pro Single submitter ⚠
- p.Thr422Asn Single submitter ⚠
- p.Thr422Ile Single submitter ⚠
- p.Thr483Ile Single submitter ⚠
- p.Tyr199Cys Single submitter ⚠
- p.Tyr416Cys Single submitter ⚠
- p.Tyr416His Single submitter ⚠
- p.Val185Met Single submitter ⚠
- p.Val375Ile Single submitter ⚠
- p.Val50Ile Single submitter ⚠
- p.Val526Met Single submitter ⚠
- p.Val547Leu Single submitter ⚠