STAT5A — 78 ClinVar variants
All ClinVar germline STAT5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
6 Benign · 3 Likely benign · 69 Uncertain significance
Full STAT5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- STAT5A p.Ala213Val Uncertain significance Single submitter
- STAT5A p.Ala318Thr Uncertain significance Single submitter
- STAT5A p.Ala45Ser Uncertain significance Single submitter
- STAT5A p.Ala510Thr Uncertain significance Single submitter
- STAT5A p.Ala510Val Uncertain significance Single submitter
- STAT5A p.Ala718Thr Uncertain significance Single submitter
- STAT5A p.Ala733Pro Uncertain significance Single submitter
- STAT5A p.Ala789Val Uncertain significance Single submitter
- STAT5A p.Arg257Trp Uncertain significance Single submitter
- STAT5A p.Arg290Trp Uncertain significance Single submitter
- STAT5A p.Arg353Cys Uncertain significance Single submitter
- STAT5A p.Arg389Cys Uncertain significance Single submitter
- STAT5A p.Arg426His Uncertain significance Single submitter
- STAT5A p.Arg429Gln Uncertain significance Single submitter
- STAT5A p.Arg769His Uncertain significance Single submitter
- STAT5A p.Asn387Ile Uncertain significance Single submitter
- STAT5A p.Asn50Ser Uncertain significance Single submitter
- STAT5A p.Asp13Asn Uncertain significance Single submitter
- STAT5A p.Asp753Asn Uncertain significance Single submitter
- STAT5A p.Gln206Arg Uncertain significance Single submitter
- STAT5A p.Gln259Arg Uncertain significance Single submitter
- STAT5A p.Gln447Pro Uncertain significance Single submitter
- STAT5A p.Gln66Glu Uncertain significance Single submitter
- STAT5A p.Glu315Ala Uncertain significance Single submitter
- STAT5A p.Glu335Lys Uncertain significance Single submitter
- STAT5A p.Glu454Lys Uncertain significance Single submitter
- STAT5A p.Gly358Arg Uncertain significance Single submitter
- STAT5A p.Gly431Ser Uncertain significance Single submitter
- STAT5A p.Gly784Ser Uncertain significance Single submitter
- STAT5A p.His363Arg Uncertain significance Single submitter
- STAT5A p.Leu455Phe Uncertain significance Single submitter
- STAT5A p.Leu687Arg Uncertain significance Single submitter
- STAT5A p.Met419Val Uncertain significance Single submitter
- STAT5A p.Met772Val Uncertain significance Single submitter
- STAT5A p.Phe444Val Uncertain significance Single submitter
- STAT5A p.Pro129Leu Uncertain significance Single submitter
- STAT5A p.Pro268Ser Uncertain significance Single submitter
- STAT5A p.Pro367Arg Uncertain significance Single submitter
- STAT5A p.Pro505Ser Uncertain significance Single submitter
- STAT5A p.Pro636Leu Uncertain significance Single submitter
- STAT5A p.Pro781Ser Uncertain significance Single submitter
- STAT5A p.Pro782Ser Uncertain significance Single submitter
- STAT5A p.Ser777Thr Uncertain significance Single submitter
- STAT5A p.Thr411Ser Uncertain significance Single submitter
- STAT5A p.Tyr114Cys Uncertain significance Single submitter
- STAT5A p.Tyr98Cys Uncertain significance Single submitter
- STAT5A p.Val154Ile Uncertain significance Single submitter
- STAT5A p.Val227Met Uncertain significance Single submitter
- STAT5A p.Val274Met Uncertain significance Single submitter
- STAT5A p.Val316Ile Uncertain significance Single submitter
-
STAT5A p.Ala427Thr
Uncertain significance
No assertion criteria
esophageal atresia
Predictors split 11
The independent predictors disagree with each other — read with care.
- STAT5A p.Arg295Ser Uncertain significance Single submitter
- STAT5A p.Asn264Ser Uncertain significance Single submitter
- STAT5A p.Asn539Thr Uncertain significance Single submitter
- STAT5A p.Asn562Lys Uncertain significance Single submitter
- STAT5A p.Asp249Asn Uncertain significance Single submitter
- STAT5A p.Leu299Phe Uncertain significance Single submitter
- STAT5A p.Leu60Phe Uncertain significance Single submitter
- STAT5A p.Met364Ile Uncertain significance Single submitter
- STAT5A p.Met578Ile Uncertain significance Single submitter
- STAT5A p.Pro194Leu Uncertain significance Single submitter
- STAT5A p.Pro491Arg Uncertain significance Single submitter
All STAT5A variants
Benign 6
- c.2063-4A>G Multiple submitters
- p.Asp743= Multiple submitters
- p.Leu746= Multiple submitters
- p.Val209Ala Multiple submitters
- p.Thr155= Single submitter
- p.Val598= Single submitter
Likely benign 3
- p.Ala187Gly Single submitter
- p.Gln188Pro Single submitter
- p.Met737Thr Single submitter
Uncertain significance 69
- c.2072_2114+2dup Single submitter
- p.Ala213Val Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Ala45Ser Single submitter ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala510Val Single submitter ⚠
- p.Ala718Thr Single submitter ⚠
- p.Ala733Pro Single submitter ⚠
- p.Ala789Val Single submitter ⚠
- p.Arg257Trp Single submitter ⚠
- p.Arg290Trp Single submitter ⚠
- p.Arg294His Single submitter
- p.Arg295Ser Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg389Cys Single submitter ⚠
- p.Arg426His Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg560Lys Single submitter
- p.Arg769His Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asn387Ile Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asn539Thr Single submitter ⚠
- p.Asn562Lys Single submitter ⚠
- p.Asp13Asn Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp753Asn Single submitter ⚠
- p.Gln206Arg Single submitter ⚠
- p.Gln259Arg Single submitter ⚠
- p.Gln447Pro Single submitter ⚠
- p.Gln66Glu Single submitter ⚠
- p.Gln9His Single submitter
- p.Glu315Ala Single submitter ⚠
- p.Glu335Lys Single submitter ⚠
- p.Glu454Lys Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly431Ser Single submitter ⚠
- p.Gly784Ser Single submitter ⚠
- p.Gly88Glu Single submitter
- p.His363Arg Single submitter ⚠
- p.Leu299Phe Single submitter ⚠
- p.Leu455Phe Single submitter ⚠
- p.Leu60Phe Single submitter ⚠
- p.Leu687Arg Single submitter ⚠
- p.Met364Ile Single submitter ⚠
- p.Met419Val Single submitter ⚠
- p.Met578Ile Single submitter ⚠
- p.Met758Thr Single submitter
- p.Met772Val Single submitter ⚠
- p.Phe444Val Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro268Ser Single submitter ⚠
- p.Pro367Arg Single submitter ⚠
- p.Pro491Arg Single submitter ⚠
- p.Pro505Ser Single submitter ⚠
- p.Pro636Leu Single submitter ⚠
- p.Pro781Ser Single submitter ⚠
- p.Pro782Ser Single submitter ⚠
- p.Ser777Thr Single submitter ⚠
- p.Thr411Ser Single submitter ⚠
- p.Tyr114Cys Single submitter ⚠
- p.Tyr665fs Single submitter
- p.Tyr98Cys Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val227Met Single submitter ⚠
- p.Val274Met Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Ala427Thr No assertion criteria esophageal atresia ⚠