"3billion"[submitter] AND "PAH"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 576	NM_000277.3(PAH):c.1315+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 102549	NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	PAH (A395G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 619	NM_000277.3(PAH):c.1162G>A (p.Val388Met)	PAH (V388M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 607	NM_000277.3(PAH):c.1066-11G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 203872	NM_000277.3(PAH):c.1065+1G>T	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102914	NM_000277.3(PAH):c.969+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102885	NM_000277.3(PAH):c.889C>T (p.Arg297Cys)	LOC126861615, PAH (R297C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 589	NM_000277.3(PAH):c.842C>T (p.Pro281Leu)	PAH (P281L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 580	NM_000277.3(PAH):c.838G>A (p.Glu280Lys)	PAH (E280K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 102824	NM_000277.3(PAH):c.755G>A (p.Arg252Gln)	PAH (R252Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102803	NM_000277.3(PAH):c.721C>T (p.Arg241Cys)	PAH (R241C)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 932251	NM_000277.3(PAH):c.676C>A (p.Gln226Lys)	PAH (Q226K)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102779	NM_000277.3(PAH):c.673C>A (p.Pro225Thr)	PAH (P225T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 102746	NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	PAH (Y198fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102724	NM_000277.3(PAH):c.527G>A (p.Arg176Gln)	PAH (R176Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102723	NM_000277.3(PAH):c.526C>T (p.Arg176Ter)	PAH (R176*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 664621	NM_000277.3(PAH):c.516G>T (p.Gln172His)	PAH (Q172H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102701	NM_000277.3(PAH):c.493G>C (p.Ala165Pro)	PAH (A165P)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 587	NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	PAH (R158Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92742	NM_000277.3(PAH):c.441+5G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102669	NM_000277.3(PAH):c.439C>T (p.Pro147Ser)	PAH (P147S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120273	NM_000277.3(PAH):c.350C>T (p.Thr117Ile)	PAH (T117I)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 636	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH (I65T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92734	NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	PAH (F55L)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia +3 more	GPathogenic/Likely pathogenic
Select item 608	NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	PAH (L48S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database

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Items: 29