SEPTIN7 — 34 ClinVar variants
All ClinVar germline SEPTIN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
1 Benign · 33 Uncertain significance
Full SEPTIN7 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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SEPTIN7 p.Arg243His Uncertain significance Single submitter
- SEPTIN7 p.Asn188Ser Uncertain significance Single submitter
- SEPTIN7 p.Asp140Val Uncertain significance Single submitter
- SEPTIN7 p.Gln206His Uncertain significance Single submitter
- SEPTIN7 p.Gly82Ala Uncertain significance Single submitter
- SEPTIN7 p.Ile100Thr Uncertain significance Single submitter
- SEPTIN7 p.Ile193Thr Uncertain significance Single submitter
- SEPTIN7 p.Ile254Leu Uncertain significance Single submitter
- SEPTIN7 p.Leu162Phe Uncertain significance Single submitter
- SEPTIN7 p.Lys181Asn Uncertain significance Single submitter
- SEPTIN7 p.Met180Val Uncertain significance Single submitter
- SEPTIN7 p.Met353Val Uncertain significance Single submitter
- SEPTIN7 p.Pro78Ser Uncertain significance Single submitter
- SEPTIN7 p.Ser2Leu Uncertain significance Single submitter
- SEPTIN7 p.Ser2Pro Uncertain significance Single submitter
- SEPTIN7 p.Ser423Thr Uncertain significance Single submitter
- SEPTIN7 p.Ser7Cys Uncertain significance Single submitter
- SEPTIN7 p.Thr228Ala Uncertain significance Single submitter
- SEPTIN7 p.Tyr141Cys Uncertain significance Single submitter
- SEPTIN7 p.Tyr306Cys Uncertain significance Single submitter
- SEPTIN7 p.Val249Ile Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- SEPTIN7 p.Arg381Gln Uncertain significance Single submitter
- SEPTIN7 p.Arg402Cys Uncertain significance Single submitter
- SEPTIN7 p.Gln415Glu Uncertain significance Single submitter
- SEPTIN7 p.Ile290Val Uncertain significance Single submitter
- SEPTIN7 p.Lys431Arg Uncertain significance Single submitter
- SEPTIN7 p.Met350Ile Uncertain significance Single submitter
- SEPTIN7 p.Val45Leu Uncertain significance Single submitter
All SEPTIN7 variants
Benign 1
- p.Phe404= Single submitter
Uncertain significance 33
- c.872+1G>A Single submitter
- p.Arg243His Single submitter ⚠
- p.Arg381Gln Single submitter ⚠
- p.Arg402Cys Single submitter ⚠
- p.Asn188Ser Single submitter ⚠
- p.Asp140Val Single submitter ⚠
- p.Gln206His Single submitter ⚠
- p.Gln415Glu Single submitter ⚠
- p.Gly82Ala Single submitter ⚠
- p.Ile100Thr Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Ile254Leu Single submitter ⚠
- p.Ile290Val Single submitter ⚠
- p.Leu162Phe Single submitter ⚠
- p.Leu199Phe Single submitter
- p.Lys181Asn Single submitter ⚠
- p.Lys431Arg Single submitter ⚠
- p.Met180Val Single submitter ⚠
- p.Met350Ile Single submitter ⚠
- p.Met353Val Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Pro81Arg Single submitter
- p.Pro81Leu Single submitter
- p.Ser2Leu Single submitter ⚠
- p.Ser2Pro Single submitter ⚠
- p.Ser423Thr Single submitter ⚠
- p.Ser7Cys Single submitter ⚠
- p.Thr228Ala Single submitter ⚠
- p.Tyr141Cys Single submitter ⚠
- p.Tyr306Cys Single submitter ⚠
- p.Val105Ile Single submitter
- p.Val249Ile Single submitter ⚠
- p.Val45Leu Single submitter ⚠