AWAT1 — 38 ClinVar variants
All ClinVar germline AWAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Conflicting · 1 Benign · 4 Likely benign · 32 Uncertain significance
Full AWAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AWAT1 p.Gln187Glu Uncertain significance Single submitter
- AWAT1 p.Gly154Asp Uncertain significance Single submitter
- AWAT1 p.Gly183Arg Uncertain significance Single submitter
- AWAT1 p.His3Arg Uncertain significance Single submitter
- AWAT1 p.His96Gln Uncertain significance Single submitter
- AWAT1 p.Ile143Phe Uncertain significance Single submitter
- AWAT1 p.Leu166Pro Uncertain significance Single submitter
- AWAT1 p.Met237Ile Uncertain significance Single submitter
- AWAT1 p.Pro19Thr Uncertain significance Single submitter
- AWAT1 p.Trp139Cys Uncertain significance Single submitter
- AWAT1 p.Tyr22Cys Uncertain significance Single submitter
- AWAT1 p.Val182Ala Uncertain significance Single submitter
- AWAT1 p.Val204Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AWAT1 p.Ala112Thr Uncertain significance Single submitter
- AWAT1 p.Ala212Thr Uncertain significance Single submitter
- AWAT1 p.Asp311Asn Uncertain significance Single submitter
- AWAT1 p.Gln228Glu Uncertain significance Single submitter
- AWAT1 p.Glu293Lys Uncertain significance Single submitter
- AWAT1 p.Gly129Asp Uncertain significance Single submitter
- AWAT1 p.Gly129Val Uncertain significance Single submitter
- AWAT1 p.Gly170Ser Likely benign Single submitter
- AWAT1 p.Leu195Ile Uncertain significance Single submitter
- AWAT1 p.Leu306Val Uncertain significance Single submitter
- AWAT1 p.Phe244Leu Uncertain significance Single submitter
- AWAT1 p.Pro283Ser Uncertain significance Single submitter
- AWAT1 p.Ser124Leu Uncertain significance Single submitter
- AWAT1 p.Ser235Thr Uncertain significance Single submitter
- AWAT1 p.Ser66Leu Likely benign Single submitter
- AWAT1 p.Thr206Arg Uncertain significance Single submitter
- AWAT1 p.Thr58Asn Uncertain significance Single submitter
- AWAT1 p.Thr85Met Uncertain significance Single submitter
- AWAT1 p.Tyr238His Uncertain significance Single submitter
- AWAT1 p.Val175Met Uncertain significance Single submitter
- AWAT1 p.Val278Ala Uncertain significance Single submitter
All AWAT1 variants
Conflicting classifications of pathogenicity 1
- p.Gly266Arg Single submitter ⚠
Benign 1
- p.Ser291= Multiple submitters
Likely benign 4
- p.Ala152= Single submitter
- p.Ala50Val Single submitter
- p.Gly170Ser Single submitter ⚠
- p.Ser66Leu Single submitter ⚠
Uncertain significance 32
- p.Ala112Thr Single submitter ⚠
- p.Ala212Thr Single submitter ⚠
- p.Asp311Asn Single submitter ⚠
- p.Gln187Glu Single submitter ⚠
- p.Gln228Glu Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Gly129Asp Single submitter ⚠
- p.Gly129Val Single submitter ⚠
- p.Gly154Asp Single submitter ⚠
- p.Gly183Arg Single submitter ⚠
- p.His3Arg Single submitter ⚠
- p.His96Gln Single submitter ⚠
- p.Ile143Phe Single submitter ⚠
- p.Leu166Pro Single submitter ⚠
- p.Leu195Ile Single submitter ⚠
- p.Leu306Val Single submitter ⚠
- p.Met237Ile Single submitter ⚠
- p.Phe244Leu Single submitter ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro283Ser Single submitter ⚠
- p.Ser124Leu Single submitter ⚠
- p.Ser235Thr Single submitter ⚠
- p.Thr206Arg Single submitter ⚠
- p.Thr58Asn Single submitter ⚠
- p.Thr85Met Single submitter ⚠
- p.Trp139Cys Single submitter ⚠
- p.Tyr22Cys Single submitter ⚠
- p.Tyr238His Single submitter ⚠
- p.Val175Met Single submitter ⚠
- p.Val182Ala Single submitter ⚠
- p.Val204Met Single submitter ⚠
- p.Val278Ala Single submitter ⚠