C4025094[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 593	NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)	PAH (Y414C)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 577	NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)	PAH (R408W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120263	NM_000277.3(PAH):c.1196T>C (p.Val399Ala)	PAH (V399A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102849	NM_000277.3(PAH):c.811C>T (p.His271Tyr)	PAH (H271Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database

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