SAP30BP — 23 ClinVar variants
All ClinVar germline SAP30BP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
23 Uncertain significance
Full SAP30BP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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.
- SAP30BP p.Ala235Pro Uncertain significance Single submitter
- SAP30BP p.Ala243Gly Uncertain significance Single submitter
- SAP30BP p.Asn161Asp Uncertain significance Single submitter
- SAP30BP p.Asp57Glu Uncertain significance Single submitter
- SAP30BP p.Asp76Asn Uncertain significance Single submitter
- SAP30BP p.Asp85Gly Uncertain significance Single submitter
- SAP30BP p.Asp97Asn Uncertain significance Single submitter
- SAP30BP p.Glu65Asp Uncertain significance Single submitter
- SAP30BP p.Glu80Ala Uncertain significance Single submitter
- SAP30BP p.Gly39Asp Uncertain significance Single submitter
- SAP30BP p.Ile135Met Uncertain significance Single submitter
- SAP30BP p.Ile143Val Uncertain significance Single submitter
- SAP30BP p.Ile206Val Uncertain significance Single submitter
- SAP30BP p.Lys38Arg Uncertain significance Single submitter
- SAP30BP p.Pro188Arg Uncertain significance Single submitter
- SAP30BP p.Ser69Cys Uncertain significance Single submitter
- SAP30BP p.Thr179Ala Uncertain significance Single submitter
- SAP30BP p.Thr236Ala Uncertain significance Single submitter
- SAP30BP p.Thr242Ile Uncertain significance Single submitter
- SAP30BP p.Thr283Met Uncertain significance Single submitter
- SAP30BP p.Tyr197Cys Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All SAP30BP variants
Uncertain significance 23
- p.Ala235Pro Single submitter ⚠
- p.Ala243Gly Single submitter ⚠
- p.Asn161Asp Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Asp76Asn Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Asp97Asn Single submitter ⚠
- p.Glu65Asp Single submitter ⚠
- p.Glu80Ala Single submitter ⚠
- p.Gly39Asp Single submitter ⚠
- p.Ile135Met Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Lys38Arg Single submitter ⚠
- p.Phe171Leu Single submitter ⚠
- p.Pro188Arg Single submitter ⚠
- p.Ser69Cys Single submitter ⚠
- p.Thr179Ala Single submitter ⚠
- p.Thr225Met Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr242Ile Single submitter ⚠
- p.Thr283Met Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠