SEPTIN2 — 37 ClinVar variants
All ClinVar germline SEPTIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Benign · 36 Uncertain significance
Full SEPTIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEPTIN2 p.Ala341Val Uncertain significance Single submitter
- SEPTIN2 p.Arg128Thr Uncertain significance Single submitter
- SEPTIN2 p.Arg194Gln Uncertain significance Single submitter
- SEPTIN2 p.Arg198Lys Uncertain significance Single submitter
- SEPTIN2 p.Arg338Lys Uncertain significance Single submitter
- SEPTIN2 p.Asn22Lys Uncertain significance Single submitter
- SEPTIN2 p.Asn271Ser Uncertain significance Single submitter
- SEPTIN2 p.Gln227Pro Uncertain significance Single submitter
- SEPTIN2 p.Gln344Glu Uncertain significance Single submitter
- SEPTIN2 p.Glu133Lys Uncertain significance Single submitter
- SEPTIN2 p.Gly308Ser Uncertain significance Single submitter
- SEPTIN2 p.Gly350Arg Uncertain significance Single submitter
- SEPTIN2 p.Gly352Asp Uncertain significance Single submitter
- SEPTIN2 p.His158Arg Uncertain significance Single submitter
- SEPTIN2 p.His283Tyr Uncertain significance Single submitter
- SEPTIN2 p.Ile142Thr Uncertain significance Single submitter
- SEPTIN2 p.Ile171Val Uncertain significance Single submitter
- SEPTIN2 p.Ile210Phe Uncertain significance Single submitter
- SEPTIN2 p.Leu189Pro Uncertain significance Single submitter
- SEPTIN2 p.Lys174Asn Uncertain significance Single submitter
- SEPTIN2 p.Met316Val Uncertain significance Single submitter
- SEPTIN2 p.Phe58Leu Uncertain significance Single submitter
- SEPTIN2 p.Ser51Leu Uncertain significance Single submitter
- SEPTIN2 p.Thr7Asn Uncertain significance Single submitter
- SEPTIN2 p.Trp260Arg Uncertain significance Single submitter
- SEPTIN2 p.Tyr105Cys Uncertain significance Single submitter
- SEPTIN2 p.Tyr17His Uncertain significance Single submitter
- SEPTIN2 p.Tyr211Cys Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All SEPTIN2 variants
Benign 1
- p.Ala166= Single submitter
Uncertain significance 36
- p.Ala337Pro Single submitter ⚠
- p.Ala341Val Single submitter ⚠
- p.Arg128Thr Single submitter ⚠
- p.Arg194Gln Single submitter ⚠
- p.Arg198Lys Single submitter ⚠
- p.Arg338Lys Single submitter ⚠
- p.Asn22Lys Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asp61Glu Single submitter ⚠
- p.Gln227Pro Single submitter ⚠
- p.Gln344Glu Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Gly308Ser Single submitter ⚠
- p.Gly350Arg Single submitter ⚠
- p.Gly352Asp Single submitter ⚠
- p.His158Arg Single submitter ⚠
- p.His206Arg Single submitter ⚠
- p.His283Tyr Single submitter ⚠
- p.Ile142Thr Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile210Phe Single submitter ⚠
- p.Leu189Pro Single submitter ⚠
- p.Leu294Arg Single submitter
- p.Lys174Asn Single submitter ⚠
- p.Met316Val Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Phe58Leu Single submitter ⚠
- p.Ser242Thr Single submitter ⚠
- p.Ser51Leu Single submitter ⚠
- p.Thr60Ala Single submitter
- p.Thr7Asn Single submitter ⚠
- p.Thr85Ala Single submitter
- p.Trp260Arg Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr17His Single submitter ⚠
- p.Tyr211Cys Single submitter ⚠