AANAT — 53 ClinVar variants
All ClinVar germline AANAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Benign · 10 Likely benign · 40 Uncertain significance
Full AANAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AANAT p.Ala163Pro Uncertain significance Single submitter
- AANAT p.Ala180Thr Uncertain significance Single submitter
- AANAT p.Arg128His Uncertain significance Single submitter
- AANAT p.Arg131Gln Uncertain significance Single submitter
- AANAT p.Arg142His Uncertain significance Single submitter
- AANAT p.Arg154Cys Uncertain significance Single submitter
- AANAT p.Arg202Cys Uncertain significance Single submitter
- AANAT p.Arg202His Uncertain significance Single submitter
- AANAT p.Arg28Gln Uncertain significance Single submitter
- AANAT p.Arg28Trp Uncertain significance Single submitter
- AANAT p.Arg29Cys Uncertain significance Single submitter
- AANAT p.Arg53His Uncertain significance Single submitter
- AANAT p.Arg71Gln Uncertain significance Single submitter
- AANAT p.Arg71Pro Uncertain significance Single submitter
- AANAT p.Asp162Asn Uncertain significance Single submitter
- AANAT p.Glu161Lys Uncertain significance Single submitter
- AANAT p.Glu52Gly Uncertain significance Single submitter
- AANAT p.Ile94Val Uncertain significance Single submitter
- AANAT p.Leu104Arg Uncertain significance Single submitter
- AANAT p.Leu186Phe Uncertain significance Single submitter
- AANAT p.Leu32Ile Uncertain significance Single submitter
- AANAT p.Lys101Arg Uncertain significance Single submitter
- AANAT p.Met105Lys Uncertain significance Single submitter
- AANAT p.Phe56Ser Uncertain significance Single submitter
- AANAT p.Pro42Leu Uncertain significance Single submitter
- AANAT p.Pro42Ser Uncertain significance Single submitter
- AANAT p.Ser172Cys Uncertain significance Single submitter
- AANAT p.Ser23Tyr Uncertain significance Single submitter
- AANAT p.Tyr168Asp Uncertain significance Single submitter
- AANAT p.Val59Ile Uncertain significance Single submitter
-
AANAT p.Ala129Thr
Uncertain significance
No assertion criteria
delayed sleep phase syndrome, susceptibility to
Predictors split 5
The independent predictors disagree with each other — read with care.
All AANAT variants
Likely benign 10
- p.Arg128= Single submitter
- p.Arg154His Single submitter
- p.Arg15His Single submitter
- p.Arg196Gln Single submitter
- p.Arg29His Single submitter
- p.His122= Single submitter
- p.Ile118Thr Single submitter
- p.Met105Thr Single submitter
- p.Thr187Ala Single submitter
- p.Thr6Ile Single submitter
Uncertain significance 40
- p.Ala156Pro Single submitter
- p.Ala163Pro Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg131Trp Single submitter ⚠
- p.Arg142His Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg202His Single submitter ⚠
- p.Arg28Gln Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Arg71Gln Single submitter ⚠
- p.Arg71Pro Single submitter ⚠
- p.Asp100His Single submitter
- p.Asp162Asn Single submitter ⚠
- p.Cys77Tyr Single submitter ⚠
- p.Glu161Lys Single submitter ⚠
- p.Glu52Gln Single submitter
- p.Glu52Gly Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu104Arg Single submitter ⚠
- p.Leu186Phe Single submitter ⚠
- p.Leu32Ile Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Met105Lys Single submitter ⚠
- p.Phe171Val Single submitter ⚠
- p.Phe56Ser Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro42Leu Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Ser172Cys Single submitter ⚠
- p.Ser23Tyr Single submitter ⚠
- p.Thr31Ile Single submitter
- p.Tyr168Asp Single submitter ⚠
- p.Val59Ile Single submitter ⚠
- p.Ala129Thr No assertion criteria delayed sleep phase syndrome, susceptibility to ⚠