Showing 1 to 7 of 7 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2024-04-12
1.6
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2023-04-06
1.5
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2020-05-19
1.4
-GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2020-05-19
1.3
-GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2020-02-14
1.2
-GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2020-02-14
1.1
-GAA
View NM_000152.4(GAA):c.1288G>A (p.Glu430Lys)
Uncertain Significance
glycogen storage disease II2020-02-05
1.0
-GAA
Showing 1 to 7 of 7 rows