AADAC — 55 ClinVar variants
All ClinVar germline AADAC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
3 Likely benign · 52 Uncertain significance
Full AADAC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AADAC p.Ala121Gly Uncertain significance Single submitter
- AADAC p.Ala16Val Uncertain significance Single submitter
- AADAC p.Ala319Glu Uncertain significance Single submitter
- AADAC p.Arg169His Uncertain significance Single submitter
- AADAC p.Arg92Gly Uncertain significance Single submitter
- AADAC p.Asp207Glu Uncertain significance Single submitter
- AADAC p.Gln44His Uncertain significance Single submitter
- AADAC p.Glu77Lys Uncertain significance Single submitter
- AADAC p.Gly2Ala Uncertain significance Single submitter
- AADAC p.His39Tyr Uncertain significance Single submitter
- AADAC p.Ile15Thr Uncertain significance Single submitter
- AADAC p.Ile292Met Uncertain significance Single submitter
- AADAC p.Ile338Thr Uncertain significance Single submitter
- AADAC p.Leu239Ile Uncertain significance Single submitter
- AADAC p.Leu356His Uncertain significance Single submitter
- AADAC p.Lys97Arg Uncertain significance Single submitter
- AADAC p.Phe376Leu Uncertain significance Single submitter
- AADAC p.Pro30Thr Uncertain significance Single submitter
- AADAC p.Ser186Ala Uncertain significance Single submitter
- AADAC p.Thr359Ile Uncertain significance Single submitter
- AADAC p.Trp166Leu Uncertain significance Single submitter
- AADAC p.Val64Ala Uncertain significance Single submitter
- AADAC p.Val71Ile Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- AADAC p.Arg146Ser Uncertain significance Single submitter
- AADAC p.Arg169Cys Uncertain significance Single submitter
- AADAC p.Arg330Cys Uncertain significance Single submitter
- AADAC p.Asn237Tyr Uncertain significance Single submitter
- AADAC p.Asn398Thr Uncertain significance Single submitter
- AADAC p.Asp137Glu Uncertain significance Single submitter
- AADAC p.Asp137His Uncertain significance Single submitter
- AADAC p.Asp207Val Uncertain significance Single submitter
- AADAC p.Asp25Val Uncertain significance Single submitter
- AADAC p.Gln390His Uncertain significance Single submitter
- AADAC p.Glu181Gln Uncertain significance Single submitter
- AADAC p.Gly374Arg Uncertain significance Single submitter
- AADAC p.Gly54Glu Uncertain significance Single submitter
- AADAC p.Leu229Phe Uncertain significance Single submitter
- AADAC p.Leu381His Uncertain significance Single submitter
- AADAC p.Lys211Asn Uncertain significance Single submitter
- AADAC p.Lys243Asn Uncertain significance Single submitter
- AADAC p.Pro224Ser Uncertain significance Single submitter
- AADAC p.Pro271Ala Uncertain significance Single submitter
- AADAC p.Thr21Met Uncertain significance Single submitter
- AADAC p.Thr335Ala Uncertain significance Single submitter
- AADAC p.Tyr161His Uncertain significance Single submitter
- AADAC p.Tyr391Cys Uncertain significance Single submitter
- AADAC p.Val140Ile Uncertain significance Single submitter
- AADAC p.Val198Met Uncertain significance Single submitter
- AADAC p.Val363Met Uncertain significance Single submitter
- AADAC p.Val64Asp Uncertain significance Single submitter
- AADAC p.Val71Ala Uncertain significance Single submitter
- AADAC p.Val93Glu Uncertain significance Single submitter
All AADAC variants
Likely benign 3
- p.Ser5= Single submitter
- p.Ter400Gln Single submitter
- p.Val27Ile Single submitter
Uncertain significance 52
- p.Ala121Gly Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala319Glu Single submitter ⚠
- p.Arg146Ser Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg330Cys Single submitter ⚠
- p.Arg92Gly Single submitter ⚠
- p.Asn237Tyr Single submitter ⚠
- p.Asn398Thr Single submitter ⚠
- p.Asp137Glu Single submitter ⚠
- p.Asp137His Single submitter ⚠
- p.Asp207Glu Single submitter ⚠
- p.Asp207Val Single submitter ⚠
- p.Asp25Val Single submitter ⚠
- p.Gln390His Single submitter ⚠
- p.Gln44His Single submitter ⚠
- p.Glu181Gln Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Gly2Ala Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly54Glu Single submitter ⚠
- p.His39Tyr Single submitter ⚠
- p.Ile15Thr Single submitter ⚠
- p.Ile292Met Single submitter ⚠
- p.Ile338Thr Single submitter ⚠
- p.Leu229Phe Single submitter ⚠
- p.Leu239Ile Single submitter ⚠
- p.Leu356His Single submitter ⚠
- p.Leu381His Single submitter ⚠
- p.Lys211Asn Single submitter ⚠
- p.Lys243Asn Single submitter ⚠
- p.Lys97Arg Single submitter ⚠
- p.Phe376Leu Single submitter ⚠
- p.Pro224Ser Single submitter ⚠
- p.Pro271Ala Single submitter ⚠
- p.Pro30Thr Single submitter ⚠
- p.Ser186Ala Single submitter ⚠
- p.Thr21Met Single submitter ⚠
- p.Thr335Ala Single submitter ⚠
- p.Thr359Ile Single submitter ⚠
- p.Trp166Leu Single submitter ⚠
- p.Tyr161His Single submitter ⚠
- p.Tyr391Cys Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val198Met Single submitter ⚠
- p.Val363Met Single submitter ⚠
- p.Val64Ala Single submitter ⚠
- p.Val64Asp Single submitter ⚠
- p.Val71Ala Single submitter ⚠
- p.Val71Ile Single submitter ⚠
- p.Val93Glu Single submitter ⚠