ClinVar for PubMed (Select 25550961) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987923	NM_000277.3(PAH):c.584dup (p.Ser196fs)	PAH (S196fs)	Duplication (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 402236	NM_000277.1:c.[722delG;c.735G>A]	PAH (R241fs)	Single nucleotide variant (synonymous variant +1 more)	Phenylketonuria	GLikely pathogenic
Select item 371373	NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)	PAH (Y166*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102806	NM_000277.3(PAH):c.722del (p.Arg241fs)	PAH (R241fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102788	NM_000277.3(PAH):c.694C>T (p.Gln232Ter)	PAH (Q232*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database

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