Sugi Variant

Sugi Variant/ABCD1

ABCD1 — 1677 ClinVar variants

All ClinVar germline ABCD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 575 flagged for review →

253 Pathogenic · 63 Pathogenic/Likely pathogenic · 174 Likely pathogenic · 139 Conflicting · 57 Benign · 31 Benign/Likely benign · 460 Likely benign · 500 Uncertain significance

Full ABCD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 575

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 11

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

Predictors agree, ClinVar conflicts 78

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 271

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 271

Predictors split 214

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 214

All ABCD1 variants

Pathogenic 253

Pathogenic/Likely pathogenic 63

Likely pathogenic 174

Conflicting classifications of pathogenicity 139

Benign 57

Benign/Likely benign 31

  • c.1394-18G>A Multiple submitters adrenoleukodystrophy
  • c.1489-13G>T Multiple submitters adrenoleukodystrophy
  • c.1634+13G>A Multiple submitters adrenoleukodystrophy
  • c.1780+4G>A Multiple submitters adrenoleukodystrophy
  • c.901-16C>T Multiple submitters adrenoleukodystrophy
  • c.901-5C>T Multiple submitters adrenoleukodystrophy
  • c.901-5del Multiple submitters Inborn genetic diseases
  • p.Ala61Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala704= Multiple submitters adrenoleukodystrophy
  • p.Arg401= Multiple submitters adrenoleukodystrophy
  • p.Arg452Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg456Cys Multiple submitters adrenoleukodystrophy ⚠
  • p.Arg456His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg464Gln Multiple submitters adrenoleukodystrophy
  • p.Asn13Thr Multiple submitters Inborn genetic diseases
  • p.Asn256= Multiple submitters adrenoleukodystrophy
  • p.Gly486Arg Multiple submitters Inborn genetic diseases
  • p.His433= Multiple submitters adrenoleukodystrophy
  • p.Ile140= Multiple submitters adrenoleukodystrophy
  • p.Leu142Val Multiple submitters Inborn genetic diseases
  • p.Leu253Val Multiple submitters Inborn genetic diseases
  • p.Leu75= Multiple submitters adrenoleukodystrophy
  • p.Phe681= Multiple submitters adrenoleukodystrophy
  • p.Ser485= Multiple submitters Inborn genetic diseases
  • p.Ser633= Multiple submitters adrenoleukodystrophy
  • p.Tyr415= Multiple submitters adrenoleukodystrophy
  • p.Tyr527= Multiple submitters adrenoleukodystrophy
  • p.Val201Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val582Ile Multiple submitters Inborn genetic diseases
  • p.Val583Glu Multiple submitters Inborn genetic diseases
  • p.Val86= Multiple submitters adrenoleukodystrophy

Likely benign 460

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 500

Showing the top 300 by review status; the full set is in the sitemap.