Sugi Variant

Sugi Variant/BLTP1

BLTP1 — 793 ClinVar variants

All ClinVar germline BLTP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 348 flagged for review →

25 Pathogenic · 30 Likely pathogenic · 9 Conflicting · 116 Benign · 4 Benign/Likely benign · 71 Likely benign · 538 Uncertain significance

Full BLTP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 348

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 4

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 307

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 307

Predictors split 30

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

All BLTP1 variants

Pathogenic 25

Likely pathogenic 30

Conflicting classifications of pathogenicity 9

Benign 116

Benign/Likely benign 4

Likely benign 71

Uncertain significance 538

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