ATAT1 — 33 ClinVar variants
All ClinVar germline ATAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
5 Likely benign · 28 Uncertain significance
Full ATAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATAT1 p.Ala203Glu Uncertain significance Single submitter
- ATAT1 p.Ala304Thr Uncertain significance Single submitter
- ATAT1 p.Arg158Gln Uncertain significance Single submitter
- ATAT1 p.Arg205Gln Uncertain significance Single submitter
- ATAT1 p.Arg269Gly Uncertain significance Single submitter
- ATAT1 p.Arg269Leu Uncertain significance Single submitter
- ATAT1 p.Arg319His Uncertain significance Single submitter
- ATAT1 p.His192Pro Uncertain significance Single submitter
- ATAT1 p.His194Arg Uncertain significance Single submitter
- ATAT1 p.Pro151Leu Uncertain significance Single submitter
- ATAT1 p.Pro214Leu Uncertain significance Single submitter
- ATAT1 p.Pro219Ala Uncertain significance Single submitter
- ATAT1 p.Pro267Thr Uncertain significance Single submitter
- ATAT1 p.Pro268Arg Uncertain significance Single submitter
- ATAT1 p.Ser315Gly Uncertain significance Single submitter
- ATAT1 p.Val130Met Uncertain significance Single submitter
-
ATAT1 p.Phe189Cys
Uncertain significance
No assertion criteria
High myopia
Predictors split 10
The independent predictors disagree with each other — read with care.
- ATAT1 p.Arg269Cys Uncertain significance Single submitter
- ATAT1 p.Arg269His Uncertain significance Single submitter
- ATAT1 p.Arg283His Uncertain significance Single submitter
- ATAT1 p.Arg293His Uncertain significance Single submitter
- ATAT1 p.Asp82Glu Uncertain significance Single submitter
- ATAT1 p.Pro262Thr Uncertain significance Single submitter
- ATAT1 p.Pro263Leu Uncertain significance Single submitter
- ATAT1 p.Ser270Phe Uncertain significance Single submitter
- ATAT1 p.Tyr101His Uncertain significance Single submitter
- ATAT1 p.Val247Met Uncertain significance Single submitter
All ATAT1 variants
Likely benign 5
- c.107+225G>C Single submitter
- p.Ala310Thr Single submitter
- p.His135Tyr Single submitter
- p.Ile47Val Single submitter
- p.Thr215Ala Single submitter
Uncertain significance 28
- c.107+217G>T Single submitter
- p.Ala203Glu Single submitter ⚠
- p.Ala304Thr Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg269Cys Single submitter ⚠
- p.Arg269Gly Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg269Leu Single submitter ⚠
- p.Arg283His Single submitter ⚠
- p.Arg293His Single submitter ⚠
- p.Arg319His Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.His192Pro Single submitter ⚠
- p.His194Arg Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro219Ala Single submitter ⚠
- p.Pro262Thr Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro267Thr Single submitter ⚠
- p.Pro268Arg Single submitter ⚠
- p.Ser270Phe Single submitter ⚠
- p.Ser315Gly Single submitter ⚠
- p.Tyr101His Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val247Met Single submitter ⚠
- p.Phe189Cys No assertion criteria High myopia ⚠