TSR2 — 65 ClinVar variants
All ClinVar germline TSR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Pathogenic · 4 Benign · 2 Benign/Likely benign · 19 Likely benign · 39 Uncertain significance
Full TSR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TSR2 p.Arg56Cys Uncertain significance Multiple submitters
- TSR2 p.Asn75Asp Uncertain significance Multiple submitters
-
TSR2 p.Glu6Gly
Uncertain significance
Multiple submitters
TSR2-related disorder
- TSR2 p.Gly35Ala Uncertain significance Multiple submitters
- TSR2 p.His98Tyr Uncertain significance Multiple submitters
- TSR2 p.Ala107Gly Uncertain significance Single submitter
- TSR2 p.Ala171Thr Uncertain significance Single submitter
- TSR2 p.Ala19Thr Uncertain significance Single submitter
- TSR2 p.Ala5Val Uncertain significance Single submitter
- TSR2 p.Arg56Leu Uncertain significance Single submitter
- TSR2 p.Arg56Ser Uncertain significance Single submitter
- TSR2 p.Arg9Gly Uncertain significance Single submitter
- TSR2 p.Cys114Ser Uncertain significance Single submitter
- TSR2 p.Gln172His Uncertain significance Single submitter
- TSR2 p.Glu132Gly Uncertain significance Single submitter
- TSR2 p.Glu165Ala Uncertain significance Single submitter
- TSR2 p.Glu21Gln Uncertain significance Single submitter
- TSR2 p.Glu82Gly Uncertain significance Single submitter
- TSR2 p.Gly36Asp Uncertain significance Single submitter
- TSR2 p.Gly3Ser Uncertain significance Single submitter
- TSR2 p.Ile28Val Uncertain significance Single submitter
- TSR2 p.Pro166Ser Uncertain significance Single submitter
-
TSR2 p.Pro169Ala
Uncertain significance
Single submitter
TSR2-related disorder
- TSR2 p.Pro169Ser Uncertain significance Single submitter
- TSR2 p.Thr151Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All TSR2 variants
Pathogenic 1
- p.Glu64Gly Single submitter Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Benign 4
- c.82-58C>T Multiple submitters
- c.*45A>G Multiple submitters
- p.Asn75= Single submitter
- p.Gly48Asp Single submitter
Benign/Likely benign 2
Likely benign 19
- c.81+8GGGCCA[3] Multiple submitters
- p.Ala4= Multiple submitters
- c.172+20C>A Single submitter
- c.173-18C>G Single submitter
- c.173-6A>C Single submitter
- c.173-6A>G Single submitter
- c.264+13C>T Single submitter
- c.441+6G>C Single submitter
- c.81+20G>A Single submitter
- p.Arg189= Single submitter
- p.Glu176= Single submitter
- p.Gly105= Single submitter
- p.Gly15= Single submitter
- p.Gly154= Single submitter
- p.Gly47= Single submitter
- p.Thr133= Single submitter
- p.Thr151= Single submitter
- p.Thr95= Single submitter
- p.Val180= Single submitter
Uncertain significance 39
- p.Ala8Pro Multiple submitters ⚠
- p.Arg56Cys Multiple submitters ⚠
- p.Asn75Asp Multiple submitters ⚠
- p.Glu6Gly Multiple submitters TSR2-related disorder ⚠
- p.Gly35Ala Multiple submitters ⚠
- p.His98Tyr Multiple submitters ⚠
- c.172+3G>A Single submitter
- c.173-12T>A Single submitter
- c.442-17_442-16del Single submitter
- c.442-4C>T Single submitter
- c.442-8C>T Single submitter
- p.Ala107Gly Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala19Thr Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Arg102= Single submitter
- p.Arg56= Single submitter
- p.Arg56Leu Single submitter ⚠
- p.Arg56Ser Single submitter ⚠
- p.Arg9= Single submitter
- p.Arg9Gly Single submitter ⚠
- p.Asp63His Single submitter ⚠
- p.Cys114Ser Single submitter ⚠
- p.Gln172His Single submitter ⚠
- p.Glu132Gly Single submitter ⚠
- p.Glu165Ala Single submitter ⚠
- p.Glu21Gln Single submitter ⚠
- p.Glu71Gly Single submitter ⚠
- p.Glu82Gly Single submitter ⚠
- p.Gly36Asp Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.Ile28Val Single submitter ⚠
- p.Leu46= Single submitter
- p.Lys190Glu Single submitter ⚠
- p.Pro166Ser Single submitter ⚠
- p.Pro169= Single submitter
- p.Pro169Ala Single submitter TSR2-related disorder ⚠
- p.Pro169Ser Single submitter ⚠
- p.Thr151Met Single submitter ⚠