Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
Pathogenic
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes2022-02-17
2.1
-PIK3R2
View NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
Pathogenic
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes2022-02-12
2.0
-PIK3R2
View NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
Pathogenic
cerebral malformation2021-09-27
1.0
-PIK3R2
Showing 1 to 3 of 3 rows