Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000277.2(PAH):c.165delT (p.Phe55Leufs)
Pathogenic
phenylketonuria2019-08-16
1.1
-PAH
View NM_000277.2(PAH):c.165delT (p.Phe55Leufs)
Pathogenic
phenylketonuria2019-08-16
1.0
-N/A
Showing 1 to 2 of 2 rows