Sugi Variant

Sugi Variant/BTD

BTD — 765 ClinVar variants

All ClinVar germline BTD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →

85 Pathogenic · 67 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 66 Conflicting · 18 Benign · 7 Benign/Likely benign · 210 Likely benign · 218 Uncertain significance

Full BTD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 283

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 vs ClinVar 28

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 30

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 104

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 121

The independent predictors disagree with each other — read with care.

All BTD variants

Pathogenic 85

Pathogenic/Likely pathogenic 67

Likely pathogenic 94

Conflicting classifications of pathogenicity 66

Benign 18

Benign/Likely benign 7

  • c.-94C>T Multiple submitters
  • p.Ile274Val Multiple submitters biotinidase deficiency
  • p.Ile48Val Multiple submitters biotinidase deficiency
  • p.Leu195= Multiple submitters biotinidase deficiency
  • p.Pro371Ser Multiple submitters biotinidase deficiency
  • p.Thr334= Multiple submitters biotinidase deficiency
  • p.Tyr408= Multiple submitters biotinidase deficiency

Likely benign 210

  • c.-17+66G>C Multiple submitters
  • p.Ala200= Multiple submitters biotinidase deficiency
  • p.Arg137= Multiple submitters biotinidase deficiency
  • p.Asn275= Multiple submitters biotinidase deficiency
  • p.Asp84= Multiple submitters biotinidase deficiency
  • p.Cys13= Multiple submitters biotinidase deficiency
  • p.His33= Multiple submitters biotinidase deficiency
  • p.His338= Multiple submitters biotinidase deficiency
  • p.Leu238= Multiple submitters biotinidase deficiency
  • p.Leu486= Multiple submitters biotinidase deficiency
  • p.Phe201= Multiple submitters biotinidase deficiency
  • p.Phe448= Multiple submitters biotinidase deficiency
  • p.Pro115= Multiple submitters biotinidase deficiency
  • p.Pro349= Multiple submitters biotinidase deficiency
  • p.Tyr16= Multiple submitters biotinidase deficiency
  • p.Tyr38= Multiple submitters biotinidase deficiency
  • p.Tyr73= Multiple submitters biotinidase deficiency
  • p.Val437= Multiple submitters biotinidase deficiency
  • c.1015+23142G>A Single submitter
  • c.1285G>A Single submitter Inborn genetic diseases
  • c.249+11T>C Single submitter biotinidase deficiency
  • c.249+15C>T Single submitter biotinidase deficiency
  • c.249+16G>A Single submitter biotinidase deficiency
  • c.249+19A>C Single submitter biotinidase deficiency
  • c.250-14G>A Single submitter biotinidase deficiency
  • c.250-15T>C Single submitter biotinidase deficiency
  • c.250-16A>T Single submitter biotinidase deficiency
  • c.250-18T>C Single submitter biotinidase deficiency
  • c.250-249G>A Single submitter
  • c.399+10G>A Single submitter biotinidase deficiency
  • c.399+19C>T Single submitter biotinidase deficiency
  • c.399+33G>A Single submitter
  • c.399+6dup Single submitter biotinidase deficiency
  • c.399+8C>T Single submitter biotinidase deficiency
  • c.399+8del Single submitter biotinidase deficiency
  • c.400-13T>C Single submitter biotinidase deficiency
  • c.400-16C>T Single submitter biotinidase deficiency
  • c.400-18C>T Single submitter biotinidase deficiency
  • c.400-19A>T Single submitter biotinidase deficiency
  • c.400-4C>T Single submitter biotinidase deficiency
  • c.400-6C>T Single submitter biotinidase deficiency
  • c.400-7C>T Single submitter biotinidase deficiency
  • c.400-8T>C Single submitter biotinidase deficiency
  • c.676A>G Single submitter Inborn genetic diseases
  • c.-16-19T>C Single submitter biotinidase deficiency
  • c.-16-5T>C Single submitter biotinidase deficiency
  • c.-16-7A>C Single submitter biotinidase deficiency
  • c.-16-7A>G Single submitter biotinidase deficiency
  • c.-16-7A>T Single submitter biotinidase deficiency
  • c.-16-7del Single submitter biotinidase deficiency
  • c.-17+10G>A Single submitter biotinidase deficiency
  • c.-17+11G>A Single submitter biotinidase deficiency
  • c.-17+12_-17+27dup Single submitter biotinidase deficiency
  • c.-17+14G>T Single submitter biotinidase deficiency
  • c.-17+16G>A Single submitter biotinidase deficiency
  • c.-17+16G>C Single submitter biotinidase deficiency
  • c.-17+20_-17+40dup Single submitter biotinidase deficiency
  • c.-17+20C>A Single submitter biotinidase deficiency
  • c.-17+23_-17+27dup Single submitter biotinidase deficiency
  • c.-17+7A>C Single submitter biotinidase deficiency
  • c.-17+7A>G Single submitter biotinidase deficiency
  • c.-17+7A>T Single submitter biotinidase deficiency
  • c.-17+8G>C Single submitter biotinidase deficiency
  • c.-1T>C Single submitter biotinidase deficiency
  • c.-22G>A Single submitter biotinidase deficiency
  • c.-28C>T Single submitter biotinidase deficiency
  • c.-34A>C Single submitter biotinidase deficiency
  • c.-46T>C Single submitter biotinidase deficiency
  • c.-5G>T Single submitter
  • c.*365dup Single submitter
  • c.*4070G>A Single submitter
  • p.Ala199= Single submitter biotinidase deficiency
  • p.Ala251= Single submitter biotinidase deficiency
  • p.Ala271= Single submitter biotinidase deficiency
  • p.Ala370= Single submitter biotinidase deficiency
  • p.Ala41= Single submitter biotinidase deficiency
  • p.Ala419= Single submitter biotinidase deficiency
  • p.Ala513= Single submitter biotinidase deficiency
  • p.Arg119= Single submitter biotinidase deficiency
  • p.Arg144= Single submitter biotinidase deficiency
  • p.Arg505= Single submitter biotinidase deficiency
  • p.Arg59= Single submitter biotinidase deficiency
  • p.Asn152= Single submitter biotinidase deficiency
  • p.Asn175= Single submitter biotinidase deficiency
  • p.Asn254= Single submitter biotinidase deficiency
  • p.Asn367= Single submitter biotinidase deficiency
  • p.Asn400= Single submitter biotinidase deficiency
  • p.Asp188= Single submitter biotinidase deficiency
  • p.Asp208= Single submitter biotinidase deficiency
  • p.Asp381= Single submitter biotinidase deficiency
  • p.Asp490= Single submitter biotinidase deficiency
  • p.Asp93= Single submitter biotinidase deficiency
  • p.Cys438= Single submitter biotinidase deficiency
  • p.Gln356= Single submitter biotinidase deficiency
  • p.Gln60= Single submitter biotinidase deficiency
  • p.Gln68= Single submitter biotinidase deficiency
  • p.Gln75= Single submitter biotinidase deficiency
  • p.Glu157= Single submitter biotinidase deficiency
  • p.Glu263= Single submitter biotinidase deficiency
  • p.Glu27= Single submitter biotinidase deficiency
  • p.Glu298= Single submitter biotinidase deficiency
  • p.Glu333Lys Single submitter biotinidase deficiency
  • p.Glu362= Single submitter biotinidase deficiency
  • p.Glu416= Single submitter biotinidase deficiency
  • p.Glu454= Single submitter biotinidase deficiency
  • p.Glu495= Single submitter biotinidase deficiency
  • p.Glu61= Single submitter biotinidase deficiency
  • p.Gly145= Single submitter biotinidase deficiency
  • p.Gly290= Single submitter biotinidase deficiency
  • p.Gly292= Single submitter biotinidase deficiency
  • p.Gly326= Single submitter biotinidase deficiency
  • p.Gly347= Single submitter biotinidase deficiency
  • p.Gly390= Single submitter biotinidase deficiency
  • p.Gly401= Single submitter biotinidase deficiency
  • p.Gly425= Single submitter biotinidase deficiency
  • p.Gly447= Single submitter biotinidase deficiency
  • p.Gly460= Single submitter biotinidase deficiency
  • p.Gly468= Single submitter biotinidase deficiency
  • p.Gly493= Single submitter biotinidase deficiency
  • p.Gly509= Single submitter biotinidase deficiency
  • p.Gly517= Single submitter biotinidase deficiency
  • p.Gly97= Single submitter biotinidase deficiency
  • p.His282= Single submitter biotinidase deficiency
  • p.His32= Single submitter biotinidase deficiency
  • p.His359= Single submitter biotinidase deficiency
  • p.His396= Single submitter biotinidase deficiency
  • p.His96= Single submitter biotinidase deficiency
  • p.Ile143= Single submitter biotinidase deficiency
  • p.Ile210= Single submitter biotinidase deficiency
  • p.Ile235= Single submitter biotinidase deficiency
  • p.Ile325= Single submitter biotinidase deficiency
  • p.Ile475= Single submitter biotinidase deficiency
  • p.Leu109= Single submitter biotinidase deficiency
  • p.Leu124= Single submitter biotinidase deficiency
  • p.Leu135= Single submitter biotinidase deficiency
  • p.Leu149= Single submitter
  • p.Leu186= Single submitter biotinidase deficiency
  • p.Leu20= Single submitter biotinidase deficiency
  • p.Leu229= Single submitter biotinidase deficiency
  • p.Leu256= Single submitter biotinidase deficiency
  • p.Leu286= Single submitter biotinidase deficiency
  • p.Leu324= Single submitter biotinidase deficiency
  • p.Leu342= Single submitter biotinidase deficiency
  • p.Leu345= Single submitter biotinidase deficiency
  • p.Leu417= Single submitter biotinidase deficiency
  • p.Leu420= Single submitter biotinidase deficiency
  • p.Leu466= Single submitter biotinidase deficiency
  • p.Leu478= Single submitter biotinidase deficiency
  • p.Leu480= Single submitter biotinidase deficiency
  • p.Leu510= Single submitter biotinidase deficiency
  • p.Leu510Val Single submitter biotinidase deficiency
  • p.Leu63= Single submitter biotinidase deficiency
  • p.Lys266= Single submitter biotinidase deficiency
  • p.Phe129= Single submitter biotinidase deficiency
  • p.Phe174= Single submitter biotinidase deficiency
  • p.Phe223= Single submitter biotinidase deficiency
  • p.Phe500= Single submitter biotinidase deficiency
  • p.Pro113= Single submitter biotinidase deficiency
  • p.Pro122= Single submitter biotinidase deficiency
  • p.Pro215= Single submitter biotinidase deficiency
  • p.Pro233= Single submitter biotinidase deficiency
  • p.Pro284= Single submitter biotinidase deficiency
  • p.Pro296= Single submitter biotinidase deficiency
  • p.Pro321= Single submitter biotinidase deficiency
  • p.Pro336= Single submitter biotinidase deficiency
  • p.Pro387= Single submitter biotinidase deficiency
  • p.Ser139= Single submitter biotinidase deficiency
  • p.Ser28= Single submitter biotinidase deficiency
  • p.Ser299= Single submitter biotinidase deficiency
  • p.Ser346= Single submitter biotinidase deficiency
  • p.Ser376= Single submitter
  • p.Ser399= Single submitter biotinidase deficiency
  • p.Ser414= Single submitter biotinidase deficiency
  • p.Ser47= Single submitter biotinidase deficiency
  • p.Ser473= Single submitter biotinidase deficiency
  • p.Ser482= Single submitter biotinidase deficiency
  • p.Thr185= Single submitter biotinidase deficiency
  • p.Thr214= Single submitter biotinidase deficiency
  • p.Thr224= Single submitter biotinidase deficiency
  • p.Thr24= Single submitter biotinidase deficiency
  • p.Thr289= Single submitter biotinidase deficiency
  • p.Thr364= Single submitter biotinidase deficiency
  • p.Thr412= Single submitter biotinidase deficiency
  • p.Thr450= Single submitter biotinidase deficiency
  • p.Thr456= Single submitter biotinidase deficiency
  • p.Thr459= Single submitter biotinidase deficiency
  • p.Tyr172= Single submitter biotinidase deficiency
  • p.Tyr241= Single submitter biotinidase deficiency
  • p.Tyr380= Single submitter biotinidase deficiency
  • p.Tyr394= Single submitter biotinidase deficiency
  • p.Tyr405= Single submitter biotinidase deficiency
  • p.Tyr43= Single submitter biotinidase deficiency
  • p.Tyr474= Single submitter biotinidase deficiency
  • p.Val134= Single submitter biotinidase deficiency
  • p.Val178= Single submitter biotinidase deficiency
  • p.Val237= Single submitter biotinidase deficiency
  • p.Val243= Single submitter biotinidase deficiency
  • p.Val247= Single submitter biotinidase deficiency
  • p.Val281= Single submitter biotinidase deficiency
  • p.Val285= Single submitter biotinidase deficiency
  • p.Val343= Single submitter
  • p.Val368= Single submitter biotinidase deficiency
  • p.Val386= Single submitter biotinidase deficiency
  • p.Val388= Single submitter biotinidase deficiency
  • p.Val397= Single submitter biotinidase deficiency
  • p.Val85= Single submitter biotinidase deficiency
  • p.Val89= Single submitter biotinidase deficiency
  • c.250-24A>G No assertion criteria BTD-related disorder
  • c.*2689C>T No assertion criteria BTD-related disorder
  • c.*3052G>C No assertion criteria BTD-related disorder

Uncertain significance 218