BUD23 — 53 ClinVar variants
All ClinVar germline BUD23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Conflicting · 1 Benign · 3 Likely benign · 48 Uncertain significance
Full BUD23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BUD23 p.Ala139Ser Uncertain significance Single submitter
- BUD23 p.Ala23Thr Uncertain significance Single submitter
- BUD23 p.Arg242Pro Uncertain significance Single submitter
- BUD23 p.Arg277Cys Uncertain significance Single submitter
- BUD23 p.Arg28Cys Uncertain significance Single submitter
- BUD23 p.Arg6Trp Uncertain significance Single submitter
- BUD23 p.Arg7Cys Uncertain significance Single submitter
- BUD23 p.Asn232Ser Uncertain significance Single submitter
- BUD23 p.Asp82Glu Uncertain significance Single submitter
- BUD23 p.Glu224Asp Uncertain significance Single submitter
- BUD23 p.Gly11Ser Uncertain significance Single submitter
- BUD23 p.Gly185Ser Uncertain significance Single submitter
- BUD23 p.Gly243Glu Uncertain significance Single submitter
- BUD23 p.Gly5Arg Uncertain significance Single submitter
- BUD23 p.Gly5Ser Uncertain significance Single submitter
- BUD23 p.Gly63Asp Uncertain significance Single submitter
- BUD23 p.Leu153Pro Uncertain significance Single submitter
- BUD23 p.Lys134Arg Uncertain significance Single submitter
- BUD23 p.Phe116Ile Uncertain significance Single submitter
- BUD23 p.Ser3Ala Uncertain significance Single submitter
- BUD23 p.Ser84Thr Uncertain significance Single submitter
- BUD23 p.Thr231Ile Uncertain significance Single submitter
- BUD23 p.Trp251Arg Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- BUD23 p.Ala2Gly Uncertain significance Single submitter
- BUD23 p.Ala2Val Uncertain significance Single submitter
- BUD23 p.Arg155Trp Uncertain significance Single submitter
- BUD23 p.Arg242Trp Uncertain significance Single submitter
- BUD23 p.Arg249Gln Uncertain significance Single submitter
- BUD23 p.Arg249Trp Uncertain significance Single submitter
- BUD23 p.Arg258Gln Uncertain significance Single submitter
- BUD23 p.Arg267Gly Uncertain significance Single submitter
- BUD23 p.Arg280Cys Uncertain significance Single submitter
- BUD23 p.Arg280His Uncertain significance Single submitter
- BUD23 p.Arg4Cys Uncertain significance Single submitter
- BUD23 p.Arg94Leu Uncertain significance Single submitter
- BUD23 p.Glu169Asp Uncertain significance Single submitter
- BUD23 p.Glu172Lys Uncertain significance Single submitter
- BUD23 p.Ile120Met Uncertain significance Single submitter
- BUD23 p.Lys53Glu Uncertain significance Single submitter
- BUD23 p.Pro13Ser Uncertain significance Single submitter
- BUD23 p.Ser135Cys Uncertain significance Single submitter
- BUD23 p.Ser168Leu Uncertain significance Single submitter
- BUD23 p.Ser228Phe Uncertain significance Single submitter
- BUD23 p.Ser3Phe Uncertain significance Single submitter
- BUD23 p.Val245Met Uncertain significance Single submitter
All BUD23 variants
Conflicting classifications of pathogenicity 1
- p.Arg24Gln Single submitter ⚠
Benign 1
- p.Ala195= Multiple submitters
Likely benign 3
- c.702-92G>A Single submitter
- p.Ala2= Single submitter
- p.Met187Val Single submitter
Uncertain significance 48
- c.702-107G>A Single submitter
- c.702-129G>A Single submitter
- c.702-93C>T Single submitter
- p.Ala139Ser Single submitter ⚠
- p.Ala23Thr Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg155Trp Single submitter ⚠
- p.Arg242Pro Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Arg267Gly Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg280Cys Single submitter ⚠
- p.Arg280His Single submitter ⚠
- p.Arg28Cys Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg94Leu Single submitter ⚠
- p.Asn232Ser Single submitter ⚠
- p.Asp82Glu Single submitter ⚠
- p.Glu169Asp Single submitter ⚠
- p.Glu172Lys Single submitter ⚠
- p.Glu224Asp Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Gly243Glu Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly5Ser Single submitter ⚠
- p.Gly63Asp Single submitter ⚠
- p.Ile120Met Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Lys134Arg Single submitter ⚠
- p.Lys53Glu Single submitter ⚠
- p.Phe116Ile Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Ser135Cys Single submitter ⚠
- p.Ser168Leu Single submitter ⚠
- p.Ser228Phe Single submitter ⚠
- p.Ser3Ala Single submitter ⚠
- p.Ser3Phe Single submitter ⚠
- p.Ser84Thr Single submitter ⚠
- p.Thr231Ile Single submitter ⚠
- p.Trp251Arg Single submitter ⚠
- p.Val245Met Single submitter ⚠