ClinVar for PubMed (Select 23842451) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2682169	NM_000277.3(PAH):c.510-19_667del	PAH	Deletion (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 2137408	NM_000277.3(PAH):c.521T>A (p.Ile174Asn)	PAH (I174N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 619166	NM_000277.3(PAH):c.712A>G (p.Thr238Ala)	PAH (T238A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102907	NM_000277.3(PAH):c.941C>A (p.Pro314His)	PAH (P314H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102832	NM_000277.3(PAH):c.782G>C (p.Arg261Pro)	PAH (R261P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102786	NM_000277.3(PAH):c.691T>C (p.Ser231Pro)	PAH (S231P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 102775	NM_000277.3(PAH):c.665A>G (p.Asp222Gly)	PAH (D222G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102766	NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	PAH (P211T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102740	NM_000277.3(PAH):c.569T>C (p.Val190Ala)	PAH (V190A)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 102727	NM_000277.3(PAH):c.529G>C (p.Val177Leu)	PAH (V177L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102721	NM_000277.3(PAH):c.521T>C (p.Ile174Thr)	PAH (I174T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102720	NM_000277.3(PAH):c.520A>G (p.Ile174Val)	PAH (I174V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102661	NM_000277.3(PAH):c.386A>G (p.Asp129Gly)	PAH (D129G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102521	NM_000277.3(PAH):c.1097C>A (p.Pro366His)	PAH (P366H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102477	NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)	PAH (Y343C)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
Select item 92746	NM_000277.3(PAH):c.533A>G (p.Glu178Gly)	PAH (E178G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 603	NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)	PAH (Y277D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 582	NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	PAH (R261Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 578	NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	PAH (L311P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database