View | NM_000152.5(GAA):c.854C>G (p.Pro285Arg) | Likely Pathogenic | glycogen storage disease II | 2025-08-05 | 1.3 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
View | NM_000152.5(GAA):c.854C>G (p.Pro285Arg) | Likely Pathogenic | glycogen storage disease II | 2025-08-05 | 1.2 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
View | NM_000152.5(GAA):c.854C>G (p.Pro285Arg) | Likely Pathogenic | glycogen storage disease II | 2024-12-06 | 1.1 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
View | NM_000152.5(GAA):c.854C>G (p.Pro285Arg) | Likely Pathogenic | glycogen storage disease II | 2024-12-06 | 1.0 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |