SEPTIN6 — 35 ClinVar variants
All ClinVar germline SEPTIN6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
6 Likely benign · 29 Uncertain significance
Full SEPTIN6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEPTIN6 p.Ala395Thr Uncertain significance Single submitter
- SEPTIN6 p.Arg370His Uncertain significance Single submitter
- SEPTIN6 p.Gln211His Uncertain significance Single submitter
- SEPTIN6 p.Glu284Gly Uncertain significance Single submitter
- SEPTIN6 p.Gly104Arg Uncertain significance Single submitter
- SEPTIN6 p.Ile183Val Uncertain significance Single submitter
- SEPTIN6 p.Leu165Pro Uncertain significance Single submitter
- SEPTIN6 p.Leu19Val Uncertain significance Single submitter
- SEPTIN6 p.Lys171Thr Uncertain significance Single submitter
- SEPTIN6 p.Lys380Arg Uncertain significance Single submitter
- SEPTIN6 p.Met250Ile Uncertain significance Single submitter
- SEPTIN6 p.Pro18Ser Uncertain significance Single submitter
- SEPTIN6 p.Pro257Thr Uncertain significance Single submitter
- SEPTIN6 p.Ser83Phe Uncertain significance Single submitter
- SEPTIN6 p.Ser91Asn Uncertain significance Single submitter
- SEPTIN6 p.Thr401Met Uncertain significance Single submitter
- SEPTIN6 p.Tyr86Asp Uncertain significance Single submitter
- SEPTIN6 p.Val100Ile Uncertain significance Single submitter
- SEPTIN6 p.Val261Gly Uncertain significance Single submitter
- SEPTIN6 p.Val347Ile Uncertain significance Single submitter
- SEPTIN6 p.Val37Ile Uncertain significance Single submitter
-
SEPTIN6 p.Arg300His
Uncertain significance
No assertion criteria
SEPTIN6-related disorder
Predictors split 6
The independent predictors disagree with each other — read with care.
- SEPTIN6 p.Arg280Gly Uncertain significance Single submitter
- SEPTIN6 p.Arg293Trp Uncertain significance Single submitter
- SEPTIN6 p.Asp218Asn Uncertain significance Single submitter
- SEPTIN6 p.Met229Val Uncertain significance Single submitter
- SEPTIN6 p.Ser190Leu Uncertain significance Single submitter
- SEPTIN6 p.Ser91Cys Uncertain significance Single submitter
All SEPTIN6 variants
Likely benign 6
- p.Arg275Gln Single submitter
- p.Leu140= Single submitter
- p.Phe63Leu Single submitter
- p.Val281= Single submitter
- c.957-5C>T No assertion criteria SEPTIN6-related disorder
- p.Ile118= No assertion criteria SEPTIN6-related disorder
Uncertain significance 29
- p.Ala395Thr Single submitter ⚠
- p.Arg280Gly Single submitter ⚠
- p.Arg293Trp Single submitter ⚠
- p.Arg370His Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Gln211His Single submitter ⚠
- p.Gln344His Single submitter
- p.Glu284Gly Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Ile183Val Single submitter ⚠
- p.Leu165Pro Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Lys171Thr Single submitter ⚠
- p.Lys380Arg Single submitter ⚠
- p.Met229Val Single submitter ⚠
- p.Met250Ile Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro257Thr Single submitter ⚠
- p.Ser190Leu Single submitter ⚠
- p.Ser83Phe Single submitter ⚠
- p.Ser91Asn Single submitter ⚠
- p.Ser91Cys Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Tyr86Asp Single submitter ⚠
- p.Val100Ile Single submitter ⚠
- p.Val261Gly Single submitter ⚠
- p.Val347Ile Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Arg300His No assertion criteria SEPTIN6-related disorder ⚠