Sugi Variant

Sugi Variant/ALPL

ALPL — 1507 ClinVar variants

All ClinVar germline ALPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 477 flagged for review →

132 Pathogenic · 162 Pathogenic/Likely pathogenic · 207 Likely pathogenic · 143 Conflicting · 74 Benign · 15 Benign/Likely benign · 423 Likely benign · 351 Uncertain significance

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

⚑ Evidence disagreements 477

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 54

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

Predictors agree, ClinVar conflicts 60

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

Predictors lean, ClinVar uncertain 153

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 153

Predictors split 210

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 210

All ALPL variants

Pathogenic 132

Pathogenic/Likely pathogenic 162

Likely pathogenic 207

Conflicting classifications of pathogenicity 143

Benign 74

Benign/Likely benign 15

  • c.1189+19G>T Multiple submitters hypophosphatasia
  • c.182-15C>G Multiple submitters adult hypophosphatasia
  • c.473-12C>T Multiple submitters adult hypophosphatasia
  • c.997+11C>T Multiple submitters hypophosphatasia
  • c.*204T>C Multiple submitters hypophosphatasia
  • c.*66C>A Multiple submitters hypophosphatasia
  • p.Ala514= Multiple submitters osteogenesis imperfecta
  • p.Arg152His Multiple submitters adult hypophosphatasia
  • p.Asp248= Multiple submitters
  • p.Leu286= Multiple submitters hypophosphatasia
  • p.Leu287= Multiple submitters osteogenesis imperfecta
  • p.Leu494= Multiple submitters childhood hypophosphatasia
  • p.Thr373= Multiple submitters hypophosphatasia
  • p.Tyr178= Multiple submitters hypophosphatasia
  • p.Val461Ile Multiple submitters hypophosphatasia

Likely benign 423

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

Uncertain significance 351

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