BUD13 — 124 ClinVar variants
All ClinVar germline BUD13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
1 Pathogenic · 1 Conflicting · 1 Benign · 12 Likely benign · 109 Uncertain significance
Full BUD13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BUD13 p.Arg26Gln Uncertain significance Multiple submitters
- BUD13 p.Gly586Arg Uncertain significance Multiple submitters
- BUD13 p.Ala10Gly Uncertain significance Single submitter
- BUD13 p.Ala20Gly Uncertain significance Single submitter
- BUD13 p.Ala267Val Uncertain significance Single submitter
- BUD13 p.Ala332Glu Uncertain significance Single submitter
- BUD13 p.Ala570Val Uncertain significance Single submitter
- BUD13 p.Arg243Lys Uncertain significance Single submitter
- BUD13 p.Arg26Trp Uncertain significance Single submitter
- BUD13 p.Arg293Gly Uncertain significance Single submitter
- BUD13 p.Arg328Gln Uncertain significance Single submitter
- BUD13 p.Arg32Leu Uncertain significance Single submitter
- BUD13 p.Arg437Gln Uncertain significance Single submitter
- BUD13 p.Arg481Met Uncertain significance Single submitter
- BUD13 p.Arg482Lys Uncertain significance Single submitter
- BUD13 p.Arg505Gln Uncertain significance Single submitter
- BUD13 p.Arg583Cys Uncertain significance Single submitter
- BUD13 p.Arg597Cys Uncertain significance Single submitter
- BUD13 p.Arg597His Uncertain significance Single submitter
- BUD13 p.Arg87Trp Uncertain significance Single submitter
- BUD13 p.Arg98Cys Uncertain significance Single submitter
- BUD13 p.Arg98His Uncertain significance Single submitter
- BUD13 p.Asn116Asp Uncertain significance Single submitter
- BUD13 p.Asn209Tyr Uncertain significance Single submitter
- BUD13 p.Asn559Asp Uncertain significance Single submitter
- BUD13 p.Asn591Ser Uncertain significance Single submitter
- BUD13 p.Asp186Gly Uncertain significance Single submitter
- BUD13 p.Asp237Gly Uncertain significance Single submitter
- BUD13 p.Asp323Asn Uncertain significance Single submitter
- BUD13 p.Asp347Asn Uncertain significance Single submitter
- BUD13 p.Asp528Gly Uncertain significance Single submitter
- BUD13 p.Asp532Asn Uncertain significance Single submitter
- BUD13 p.Cys348Phe Uncertain significance Single submitter
- BUD13 p.Gln207Glu Uncertain significance Single submitter
- BUD13 p.Gln507Arg Uncertain significance Single submitter
- BUD13 p.Gln508Pro Uncertain significance Single submitter
- BUD13 p.Glu29Lys Uncertain significance Single submitter
- BUD13 p.Glu448Gly Uncertain significance Single submitter
- BUD13 p.Glu453Gln Uncertain significance Single submitter
- BUD13 p.Glu512Val Uncertain significance Single submitter
- BUD13 p.Glu617Lys Uncertain significance Single submitter
- BUD13 p.Gly107Ala Uncertain significance Single submitter
- BUD13 p.His170Arg Uncertain significance Single submitter
- BUD13 p.His220Arg Uncertain significance Single submitter
- BUD13 p.His367Tyr Uncertain significance Single submitter
- BUD13 p.Ile324Met Uncertain significance Single submitter
- BUD13 p.Leu274Val Uncertain significance Single submitter
- BUD13 p.Lys329Arg Uncertain significance Single submitter
- BUD13 p.Lys36Arg Uncertain significance Single submitter
- BUD13 p.Lys40Thr Uncertain significance Single submitter
- BUD13 p.Lys486Glu Uncertain significance Single submitter
- BUD13 p.Lys560Glu Uncertain significance Single submitter
- BUD13 p.Lys605Arg Uncertain significance Single submitter
- BUD13 p.Lys68Glu Uncertain significance Single submitter
- BUD13 p.Met49Val Uncertain significance Single submitter
- BUD13 p.Met534Leu Uncertain significance Single submitter
- BUD13 p.Met94Val Uncertain significance Single submitter
- BUD13 p.Phe336Leu Uncertain significance Single submitter
- BUD13 p.Phe576Leu Uncertain significance Single submitter
- BUD13 p.Pro164Ser Uncertain significance Single submitter
- BUD13 p.Pro189Leu Uncertain significance Single submitter
- BUD13 p.Pro203Gln Uncertain significance Single submitter
- BUD13 p.Pro203Leu Uncertain significance Single submitter
- BUD13 p.Pro327Ser Uncertain significance Single submitter
- BUD13 p.Pro6Ser Uncertain significance Single submitter
- BUD13 p.Ser100Asn Uncertain significance Single submitter
- BUD13 p.Ser240Phe Uncertain significance Single submitter
- BUD13 p.Ser28Cys Uncertain significance Single submitter
- BUD13 p.Ser364Gly Uncertain significance Single submitter
- BUD13 p.Ser412Arg Uncertain significance Single submitter
- BUD13 p.Ser567Asn Uncertain significance Single submitter
- BUD13 p.Ser567Gly Uncertain significance Single submitter
- BUD13 p.Ser567Thr Uncertain significance Single submitter
- BUD13 p.Val24Phe Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- BUD13 p.Ser388Cys Benign Multiple submitters
- BUD13 p.Ala602Val Uncertain significance Single submitter
- BUD13 p.Arg129Thr Uncertain significance Single submitter
- BUD13 p.Arg132His Uncertain significance Single submitter
- BUD13 p.Arg144His Uncertain significance Single submitter
- BUD13 p.Arg156His Uncertain significance Single submitter
- BUD13 p.Arg156Leu Uncertain significance Single submitter
- BUD13 p.Arg219Cys Uncertain significance Single submitter
- BUD13 p.Arg232Cys Uncertain significance Single submitter
- BUD13 p.Arg266Met Uncertain significance Single submitter
- BUD13 p.Arg268Cys Uncertain significance Single submitter
- BUD13 p.Arg50Trp Uncertain significance Single submitter
-
BUD13 p.Arg565Cys
Conflicting
Single submitter
achalasia-progeroid syndrome
- BUD13 p.Arg565His Uncertain significance Single submitter
- BUD13 p.Arg87Gln Uncertain significance Single submitter
- BUD13 p.Asp196Val Uncertain significance Single submitter
- BUD13 p.Asp224Gly Uncertain significance Single submitter
- BUD13 p.Asp588Asn Uncertain significance Single submitter
- BUD13 p.Gln595Arg Uncertain significance Single submitter
- BUD13 p.Glu82Gly Uncertain significance Single submitter
- BUD13 p.His145Pro Uncertain significance Single submitter
- BUD13 p.Leu390Phe Uncertain significance Single submitter
- BUD13 p.Leu390Pro Uncertain significance Single submitter
- BUD13 p.Leu7Val Uncertain significance Single submitter
- BUD13 p.Lys40Asn Uncertain significance Single submitter
- BUD13 p.Lys9Asn Uncertain significance Single submitter
- BUD13 p.Pro124Leu Likely benign Single submitter
- BUD13 p.Pro136Leu Uncertain significance Single submitter
- BUD13 p.Pro190Ala Uncertain significance Single submitter
- BUD13 p.Ser127Phe Uncertain significance Single submitter
- BUD13 p.Ser151Phe Uncertain significance Single submitter
- BUD13 p.Ser201Tyr Uncertain significance Single submitter
- BUD13 p.Ser248Tyr Uncertain significance Single submitter
All BUD13 variants
Pathogenic 1
- p.Arg230Ter Single submitter achalasia-progeroid syndrome
Conflicting classifications of pathogenicity 1
- p.Arg565Cys Single submitter achalasia-progeroid syndrome ⚠
Benign 1
- p.Ser388Cys Multiple submitters ⚠
Likely benign 12
- p.Ala155Val Single submitter
- p.Ala213Val Single submitter
- p.Ala60Ser Single submitter
- p.Arg120His Single submitter
- p.Arg232His Single submitter
- p.Arg268His Single submitter
- p.Arg384Gln Single submitter
- p.Gln207Arg Single submitter
- p.Met515Val Single submitter
- p.Pro124= Single submitter
- p.Pro124Leu Single submitter ⚠
- p.Pro225Ser Single submitter
Uncertain significance 109
- p.Arg26Gln Multiple submitters ⚠
- p.Arg98Leu Multiple submitters Gait ataxia
- p.Gly586Arg Multiple submitters ⚠
- c.1037-8C>T Single submitter
- c.323-1G>A Single submitter
- p.Ala10Gly Single submitter ⚠
- p.Ala20Gly Single submitter ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala332Glu Single submitter ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala602Val Single submitter ⚠
- p.Arg129Thr Single submitter ⚠
- p.Arg132His Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg156Leu Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg243Lys Single submitter ⚠
- p.Arg266Met Single submitter ⚠
- p.Arg268Cys Single submitter ⚠
- p.Arg26Trp Single submitter ⚠
- p.Arg293Gly Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg469Cys Single submitter
- p.Arg481Met Single submitter ⚠
- p.Arg482Lys Single submitter ⚠
- p.Arg505Gln Single submitter ⚠
- p.Arg50Trp Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Arg583Cys Single submitter ⚠
- p.Arg597Cys Single submitter ⚠
- p.Arg597His Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asn116Asp Single submitter ⚠
- p.Asn209Tyr Single submitter ⚠
- p.Asn559Asp Single submitter ⚠
- p.Asn591Ser Single submitter ⚠
- p.Asp186Gly Single submitter ⚠
- p.Asp196Val Single submitter ⚠
- p.Asp224Gly Single submitter ⚠
- p.Asp237Gly Single submitter ⚠
- p.Asp323Asn Single submitter ⚠
- p.Asp347Asn Single submitter ⚠
- p.Asp528Gly Single submitter ⚠
- p.Asp532Asn Single submitter ⚠
- p.Asp588Asn Single submitter ⚠
- p.Cys348Phe Single submitter ⚠
- p.Gln207Glu Single submitter ⚠
- p.Gln507Arg Single submitter ⚠
- p.Gln508Pro Single submitter ⚠
- p.Gln595Arg Single submitter ⚠
- p.Glu29Lys Single submitter ⚠
- p.Glu448Gly Single submitter ⚠
- p.Glu453Gln Single submitter ⚠
- p.Glu512Val Single submitter ⚠
- p.Glu617Lys Single submitter ⚠
- p.Glu82Gly Single submitter ⚠
- p.Gly107Ala Single submitter ⚠
- p.His145Pro Single submitter ⚠
- p.His170Arg Single submitter ⚠
- p.His220Arg Single submitter ⚠
- p.His367Tyr Single submitter ⚠
- p.Ile324Met Single submitter ⚠
- p.Leu274Val Single submitter ⚠
- p.Leu390Phe Single submitter ⚠
- p.Leu390Pro Single submitter ⚠
- p.Leu7Val Single submitter ⚠
- p.Lys329Arg Single submitter ⚠
- p.Lys36Arg Single submitter ⚠
- p.Lys40Asn Single submitter ⚠
- p.Lys40Thr Single submitter ⚠
- p.Lys486Glu Single submitter ⚠
- p.Lys560Glu Single submitter ⚠
- p.Lys605Arg Single submitter ⚠
- p.Lys68Glu Single submitter ⚠
- p.Lys9Asn Single submitter ⚠
- p.Met49Val Single submitter ⚠
- p.Met534Leu Single submitter ⚠
- p.Met94Val Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe576Leu Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro164Ser Single submitter ⚠
- p.Pro189Leu Single submitter ⚠
- p.Pro190Ala Single submitter ⚠
- p.Pro203Gln Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro327Ser Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Ser100Asn Single submitter ⚠
- p.Ser127Phe Single submitter ⚠
- p.Ser151Phe Single submitter ⚠
- p.Ser201Tyr Single submitter ⚠
- p.Ser240Phe Single submitter ⚠
- p.Ser248Tyr Single submitter ⚠
- p.Ser28Cys Single submitter ⚠
- p.Ser364Gly Single submitter ⚠
- p.Ser412Arg Single submitter ⚠
- p.Ser424Cys Single submitter
- p.Ser567Asn Single submitter ⚠
- p.Ser567Gly Single submitter ⚠
- p.Ser567Thr Single submitter ⚠
- p.Val24Phe Single submitter ⚠