Showing 1 to 4 of 4 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000152.5(GAA):c.2185del (p.Leu729fs)
Pathogenic
glycogen storage disease II2021-11-19
1.3
-GAA
View NM_000152.5(GAA):c.2185del (p.Leu729fs)
Pathogenic
glycogen storage disease II2021-11-19
1.2
-GAA
View NM_000152.5(GAA):c.2185del (p.Leu729fs)
Pathogenic
glycogen storage disease II2021-11-19
1.1
-GAA
View NM_000152.5(GAA):c.2185del (p.Leu729fs)
Pathogenic
glycogen storage disease II2021-09-28
1.0
-GAA
Showing 1 to 4 of 4 rows