BASP1 — 51 ClinVar variants
All ClinVar germline BASP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
1 Benign · 3 Likely benign · 47 Uncertain significance
Full BASP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BASP1 p.Ala123Gly Uncertain significance Single submitter
- BASP1 p.Ala133Thr Uncertain significance Single submitter
- BASP1 p.Ala76Pro Uncertain significance Single submitter
- BASP1 p.Asp59Val Uncertain significance Single submitter
- BASP1 p.Asp61Gly Uncertain significance Single submitter
- BASP1 p.Gln200Lys Uncertain significance Single submitter
- BASP1 p.Glu131Lys Uncertain significance Single submitter
- BASP1 p.Glu208Gly Uncertain significance Single submitter
- BASP1 p.Glu70Asp Uncertain significance Single submitter
- BASP1 p.Glu80Ala Uncertain significance Single submitter
- BASP1 p.Pro100Ser Uncertain significance Single submitter
- BASP1 p.Pro141Ser Uncertain significance Single submitter
- BASP1 p.Pro168Ser Uncertain significance Single submitter
- BASP1 p.Pro181Ser Uncertain significance Single submitter
- BASP1 p.Pro202Ser Uncertain significance Single submitter
- BASP1 p.Pro58Ser Uncertain significance Single submitter
- BASP1 p.Val223Leu Uncertain significance Single submitter
-
BASP1 p.Val225Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 30
The independent predictors disagree with each other — read with care.
- BASP1 p.Ala119Val Uncertain significance Single submitter
- BASP1 p.Ala126Val Uncertain significance Single submitter
- BASP1 p.Ala127Thr Uncertain significance Single submitter
- BASP1 p.Ala127Val Uncertain significance Single submitter
- BASP1 p.Ala134Thr Uncertain significance Single submitter
- BASP1 p.Ala155Val Uncertain significance Single submitter
- BASP1 p.Ala159Thr Uncertain significance Single submitter
- BASP1 p.Ala179Gly Uncertain significance Single submitter
- BASP1 p.Ala179Ser Uncertain significance Single submitter
- BASP1 p.Ala180Gly Uncertain significance Single submitter
- BASP1 p.Ala180Thr Uncertain significance Single submitter
- BASP1 p.Ala78Thr Uncertain significance Single submitter
- BASP1 p.Ala93Thr Uncertain significance Single submitter
- BASP1 p.Asn13Ser Uncertain significance Single submitter
- BASP1 p.Glu140Asp Likely benign Single submitter
- BASP1 p.Glu227Lys Uncertain significance Single submitter
- BASP1 p.Glu41Gln Uncertain significance Single submitter
- BASP1 p.Glu41Gly Uncertain significance Single submitter
- BASP1 p.Glu50Asp Uncertain significance Single submitter
- BASP1 p.Glu80Asp Uncertain significance Single submitter
- BASP1 p.Glu91Lys Uncertain significance Single submitter
- BASP1 p.Gly166Arg Uncertain significance Single submitter
- BASP1 p.Lys121Arg Uncertain significance Single submitter
- BASP1 p.Lys149Arg Uncertain significance Single submitter
- BASP1 p.Lys184Arg Uncertain significance Single submitter
- BASP1 p.Pro135Ser Uncertain significance Single submitter
- BASP1 p.Pro202Leu Uncertain significance Single submitter
- BASP1 p.Pro42Leu Uncertain significance Single submitter
- BASP1 p.Ser177Trp Uncertain significance Single submitter
- BASP1 p.Thr90Arg Uncertain significance Single submitter
All BASP1 variants
Benign 1
- p.Asn13= Multiple submitters
Likely benign 3
- p.Glu140Asp Single submitter ⚠
- p.Gly175Ser Single submitter
- p.Pro111Ser Single submitter
Uncertain significance 47
- p.Ala119Val Single submitter ⚠
- p.Ala123Gly Single submitter ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala127Thr Single submitter ⚠
- p.Ala127Val Single submitter ⚠
- p.Ala133Thr Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala159Thr Single submitter ⚠
- p.Ala179Gly Single submitter ⚠
- p.Ala179Ser Single submitter ⚠
- p.Ala180Gly Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala76Pro Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asp59Val Single submitter ⚠
- p.Asp61Gly Single submitter ⚠
- p.Gln200Lys Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu208Gly Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu41Gln Single submitter ⚠
- p.Glu41Gly Single submitter ⚠
- p.Glu50Asp Single submitter ⚠
- p.Glu70Asp Single submitter ⚠
- p.Glu80Ala Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Glu91Lys Single submitter ⚠
- p.Gly166Arg Single submitter ⚠
- p.Lys121Arg Single submitter ⚠
- p.Lys149Arg Single submitter ⚠
- p.Lys184Arg Single submitter ⚠
- p.Pro100Ser Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro141Ser Single submitter ⚠
- p.Pro168Ser Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro42Leu Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Ser177Trp Single submitter ⚠
- p.Thr90Arg Single submitter ⚠
- p.Val223Leu Single submitter ⚠
- p.Val225Leu Single submitter Inborn genetic diseases ⚠