BSPH1 — 28 ClinVar variants
All ClinVar germline BSPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Likely benign · 27 Uncertain significance
Full BSPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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.
- BSPH1 p.Ala17Val Uncertain significance Single submitter
- BSPH1 p.Arg126Gly Uncertain significance Single submitter
- BSPH1 p.Arg13Gln Uncertain significance Single submitter
- BSPH1 p.Asn25Lys Uncertain significance Single submitter
- BSPH1 p.Cys131Ser Uncertain significance Single submitter
- BSPH1 p.Cys69Ser Uncertain significance Single submitter
- BSPH1 p.Cys90Gly Uncertain significance Single submitter
- BSPH1 p.Glu109Gly Uncertain significance Single submitter
- BSPH1 p.Glu39Ala Uncertain significance Single submitter
- BSPH1 p.Gly2Arg Uncertain significance Single submitter
- BSPH1 p.Ile100Met Uncertain significance Single submitter
- BSPH1 p.Ile60Thr Uncertain significance Single submitter
- BSPH1 p.Leu4Pro Uncertain significance Single submitter
- BSPH1 p.Leu6Phe Uncertain significance Single submitter
- BSPH1 p.Leu99Trp Uncertain significance Single submitter
- BSPH1 p.Lys113Glu Uncertain significance Single submitter
- BSPH1 p.Ser3Pro Uncertain significance Single submitter
- BSPH1 p.Ser83Arg Uncertain significance Single submitter
- BSPH1 p.Thr119Ile Uncertain significance Single submitter
- BSPH1 p.Thr11Met Uncertain significance Single submitter
- BSPH1 p.Trp79Cys Uncertain significance Single submitter
- BSPH1 p.Trp79Gly Uncertain significance Single submitter
- BSPH1 p.Tyr57Ser Uncertain significance Single submitter
- BSPH1 p.Val22Ile Uncertain significance Single submitter
- BSPH1 p.Val46Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All BSPH1 variants
Likely benign 1
- p.Asn89Lys Single submitter
Uncertain significance 27
- p.Ala17Val Single submitter ⚠
- p.Arg126Gly Single submitter ⚠
- p.Arg13Gln Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn25Lys Single submitter ⚠
- p.Cys131Ser Single submitter ⚠
- p.Cys69Ser Single submitter ⚠
- p.Cys90Gly Single submitter ⚠
- p.Glu109Gly Single submitter ⚠
- p.Glu39Ala Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Ile100Met Single submitter ⚠
- p.Ile60Phe Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu4Pro Single submitter ⚠
- p.Leu6Phe Single submitter ⚠
- p.Leu99Trp Single submitter ⚠
- p.Lys113Glu Single submitter ⚠
- p.Ser3Pro Single submitter ⚠
- p.Ser83Arg Single submitter ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr11Met Single submitter ⚠
- p.Trp79Cys Single submitter ⚠
- p.Trp79Gly Single submitter ⚠
- p.Tyr57Ser Single submitter ⚠
- p.Val22Ile Single submitter ⚠
- p.Val46Ile Single submitter ⚠