U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(V399A)
Single nucleotide variant
(missense variant)
Phenylketonuria
GLikely pathogenic
PAH
(H271Y)
Single nucleotide variant
(missense variant)
Phenylketonuria
GUncertain significance
PAH
(Y414C)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
PAH
(R408W)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic
Format
Sort by
Choose Destination