Sugi Variant

Sugi Variant/GNAS

GNAS — 1286 ClinVar variants

All ClinVar germline GNAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 350 flagged for review →

133 Pathogenic · 25 Pathogenic/Likely pathogenic · 81 Likely pathogenic · 41 Conflicting · 49 Benign · 27 Benign/Likely benign · 353 Likely benign · 577 Uncertain significance

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

⚑ Evidence disagreements 350

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 1

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

Predictors agree, ClinVar conflicts 17

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

Predicted LoF vs a conflicting call 4

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 257

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 257

Predictors split 71

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

All GNAS variants

Pathogenic 133

Pathogenic/Likely pathogenic 25

  • c.433-2A>C Multiple submitters progressive osseous heteroplasia
  • p.Ala102Thr Multiple submitters
  • p.Ala102Val Multiple submitters GNAS-related disorder
  • p.Arg160Cys Multiple submitters
  • p.Arg165His Multiple submitters GNAS-related disorder
  • p.Arg201Cys Multiple submitters GNAS-related disorder
  • p.Arg201His Multiple submitters pseudohypoparathyroidism type 1A
  • p.Arg231Cys Multiple submitters pseudohypoparathyroidism type 1C
  • p.Arg258Gln Multiple submitters GNAS-related disorder
  • p.Arg265Cys Multiple submitters Inborn genetic diseases
  • p.Arg265His Multiple submitters pseudohypoparathyroidism type 1A
  • p.Arg336Trp Multiple submitters pseudohypoparathyroidism type 1C
  • p.Asp173fs Multiple submitters pseudohypoparathyroidism type 1A
  • p.Gln19Ter Multiple submitters
  • p.Gln294Ter Multiple submitters pseudohypoparathyroidism
  • p.Glu104Ter Multiple submitters
  • p.Glu392Lys Multiple submitters pseudohypoparathyroidism type 1A ⚠
  • p.Gly353Arg Multiple submitters pseudopseudohypoparathyroidism ⚠
  • p.His149fs Multiple submitters McCune-Albright syndrome
  • p.Ile103Thr Multiple submitters pseudopseudohypoparathyroidism ⚠
  • p.Ile106Thr Multiple submitters GNAS-associated disease
  • p.Leu46dup Multiple submitters pseudohypoparathyroidism type 1A
  • p.Met1del Multiple submitters Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
  • p.Phe376Val Multiple submitters
  • p.Pro115Leu Multiple submitters GNAS-related disorder

Likely pathogenic 81

Conflicting classifications of pathogenicity 41

Benign 49

Benign/Likely benign 27

Likely benign 353

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

Uncertain significance 577

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