Sugi Variant

Sugi Variant/GNPTG

GNPTG — 925 ClinVar variants

All ClinVar germline GNPTG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →

65 Pathogenic · 19 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 33 Conflicting · 6 Benign · 10 Benign/Likely benign · 448 Likely benign · 285 Uncertain significance

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

⚑ Evidence disagreements 220

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 agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 166

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 166

Predictors split 42

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

All GNPTG variants

Pathogenic 65

Pathogenic/Likely pathogenic 19

Likely pathogenic 59

Conflicting classifications of pathogenicity 33

Benign 6

Benign/Likely benign 10

  • c.233+7G>T Multiple submitters GNPTG-mucolipidosis
  • c.318-18G>A Multiple submitters GNPTG-mucolipidosis
  • c.*224T>C Multiple submitters GNPTG-mucolipidosis
  • p.Ala160Val Multiple submitters GNPTG-mucolipidosis
  • p.Arg272Gly Multiple submitters GNPTG-mucolipidosis
  • p.His150Gln Multiple submitters GNPTG-mucolipidosis
  • p.Pro85= Multiple submitters GNPTG-mucolipidosis
  • p.Ser304Gly Multiple submitters GNPTG-mucolipidosis
  • p.Tyr159= Multiple submitters GNPTG-mucolipidosis
  • p.Val168Ile Multiple submitters GNPTG-mucolipidosis

Likely benign 448

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

Uncertain significance 285