Sugi Variant

Sugi Variant/GNPTAB

GNPTAB — 1664 ClinVar variants

All ClinVar germline GNPTAB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 349 flagged for review →

196 Pathogenic · 50 Pathogenic/Likely pathogenic · 184 Likely pathogenic · 56 Conflicting · 52 Benign · 22 Benign/Likely benign · 698 Likely benign · 406 Uncertain significance

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

⚑ Evidence disagreements 349

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 3

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

Predictors agree, ClinVar conflicts 21

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

Predictors lean, ClinVar uncertain 229

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 229

Predictors split 96

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

All GNPTAB variants

Pathogenic 196

Pathogenic/Likely pathogenic 50

  • c.118-1G>A Multiple submitters mucolipidosis type II
  • c.118-2A>G Multiple submitters mucolipidosis type II
  • c.1284+1G>T Multiple submitters mucolipidosis type III, alpha/beta
  • c.1408+1G>T Multiple submitters mucolipidosis type II
  • c.1409-2A>G Multiple submitters mucolipidosis type II
  • c.3335+1G>A Multiple submitters GNPTAB-Related Disorders
  • c.3336-1G>C Multiple submitters mucolipidosis
  • p.Ala34fs Multiple submitters mucolipidosis type II
  • p.Ala455Val Multiple submitters mucolipidosis type II ⚠
  • p.Arg587Pro Multiple submitters mucolipidosis
  • p.Arg680fs Multiple submitters mucolipidosis type II
  • p.Arg986Cys Multiple submitters GNPTAB-mucolipidosis
  • p.Asn1093_Cys1094insTer Multiple submitters mucolipidosis type II
  • p.Asn175fs Multiple submitters mucolipidosis type II
  • p.Asn250fs Multiple submitters mucolipidosis
  • p.Asn351fs Multiple submitters mucolipidosis type II
  • p.Asp190Val Multiple submitters mucolipidosis type II ⚠
  • p.Asp919fs Multiple submitters mucolipidosis type II
  • p.Cys505Tyr Multiple submitters Legg-Calve-Perthes disease
  • p.Gln1006Ter Multiple submitters mucolipidosis type II
  • p.Gln1181Ter Multiple submitters mucolipidosis type II
  • p.Gln205Ter Multiple submitters Inborn genetic diseases
  • p.Gln259Ter Multiple submitters mucolipidosis type II
  • p.Gln491Ter Multiple submitters mucolipidosis type III, alpha/beta
  • p.Gln537Ter Multiple submitters mucolipidosis type II
  • p.Gln94Ter Multiple submitters mucolipidosis type III, alpha/beta
  • p.Gln970Ter Multiple submitters mucolipidosis type II
  • p.Glu109Ter Multiple submitters mucolipidosis type III, alpha/beta
  • p.Glu1187fs Multiple submitters mucolipidosis
  • p.Glu217fs Multiple submitters mucolipidosis type II
  • p.Glu294Ter Multiple submitters mucolipidosis type II
  • p.Glu692fs Multiple submitters mucolipidosis type II
  • p.Glu819fs Multiple submitters mucolipidosis type II
  • p.Glu833fs Multiple submitters mucolipidosis type II
  • p.Leu1033Pro Multiple submitters mucolipidosis type III, alpha/beta
  • p.Leu1054fs Multiple submitters mucolipidosis type II
  • p.Leu1137Ter Multiple submitters mucolipidosis type II
  • p.Leu126Ter Multiple submitters mucolipidosis
  • p.Leu725Ter Multiple submitters mucolipidosis type II
  • p.Leu788Ter Multiple submitters mucolipidosis type II
  • p.Lys834fs Multiple submitters mucolipidosis type III, alpha/beta
  • p.Lys850fs Multiple submitters mucolipidosis type II
  • p.Met1Ile Multiple submitters mucolipidosis type III, alpha/beta
  • p.Met1Leu Multiple submitters mucolipidosis type II
  • p.Phe53fs Multiple submitters mucolipidosis type II
  • p.Pro655fs Multiple submitters Inborn genetic diseases
  • p.Thr115fs Multiple submitters mucolipidosis
  • p.Thr620fs Multiple submitters mucolipidosis type II
  • p.Trp493Ter Multiple submitters GNPTAB-mucolipidosis
  • p.Tyr331Ter Multiple submitters mucolipidosis type II

Likely pathogenic 184

Conflicting classifications of pathogenicity 56

Benign 52

Benign/Likely benign 22

Likely benign 698

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

Uncertain significance 406

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