"Revvity Omics, Revvity"[submitter] AND "PAH"[gene] - ClinVar

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Items: 66

	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 617	NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)	PAH (D415N)	Single nucleotide variant (missense 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 612	NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)	PAH (R408Q)	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 92731	NM_000277.3(PAH):c.1208C>T (p.Ala403Val)	PAH (A403V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 853581	NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)	PAH (F392I)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 625	NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	PAH (E390G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 92727	NM_000277.3(PAH):c.1042C>G (p.Leu348Val)	PAH (L348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 102916	NM_000277.3(PAH):c.969+6T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102912	NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	PAH (A322T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 2432412	NM_000277.3(PAH):c.946G>T (p.Glu316Ter)	PAH (E316*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic
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 578	NM_000277.3(PAH):c.932T>C (p.Leu311Pro)	PAH (L311P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92751	NM_000277.3(PAH):c.898G>T (p.Ala300Ser)	LOC126861615, PAH (A300S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 599	NM_000277.3(PAH):c.842+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic 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 603	NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)	PAH (Y277D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 596	NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	PAH (G272*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102842	NM_000277.3(PAH):c.805A>C (p.Ile269Leu)	PAH (I269L)	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 610	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH (R261*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 584	NM_000277.3(PAH):c.754C>T (p.Arg252Trp)	PAH (R252W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102821	NM_000277.3(PAH):c.745C>T (p.Leu249Phe)	PAH (L249F)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 632	NM_000277.3(PAH):c.734T>C (p.Val245Ala)	PAH (V245A)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 591	NM_000277.3(PAH):c.728G>A (p.Arg243Gln)	PAH (R243Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 102804	NM_000277.3(PAH):c.722G>A (p.Arg241His)	PAH (R241H)	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 2689650	NM_000277.3(PAH):c.720C>T (p.Phe240=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance
Select item 102784	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH (V230I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102777	NM_000277.3(PAH):c.671T>C (p.Ile224Thr)	PAH (I224T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
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 102736	NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	PAH (W187*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 631	NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	PAH (R176L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 944625	NM_000277.3(PAH):c.510T>G (p.His170Gln)	PAH (H170Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 102707	NM_000277.3(PAH):c.509+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102706	NM_000277.3(PAH):c.506G>A (p.Arg169His)	PAH (R169H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102693	NM_000277.3(PAH):c.472C>T (p.Arg158Trp)	PAH (R158W)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 554011	NM_000277.3(PAH):c.463C>T (p.Arg155Cys)	PAH (R155C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120275	NM_000277.3(PAH):c.441+6T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic 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 102671	NM_000277.3(PAH):c.441+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92741	NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	PAH (P119S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 2432429	NM_000277.3(PAH):c.350_351del (p.Thr117fs)	PAH (T117fs)	Microsatellite (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 581	NM_000277.3(PAH):c.331C>T (p.Arg111Ter)	PAH (R111*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102650	NM_000277.3(PAH):c.311C>A (p.Ala104Asp)	PAH (A104D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 306914	NM_000277.3(PAH):c.299A>G (p.His100Arg)	PAH (H100R)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 583	NM_000277.3(PAH):c.261C>A (p.Ser87Arg)	PAH (S87R)	Single nucleotide variant (missense variant)	Phenylketonuria +2 more	GPathogenic/Likely pathogenic
Select item 102632	NM_000277.3(PAH):c.208_210del (p.Ser70del)	PAH (S70del)	Deletion (inframe_deletion)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92738	NM_000277.3(PAH):c.204A>T (p.Arg68Ser)	PAH (R68S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic 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 555212	NM_000277.3(PAH):c.169-2A>G	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 188771	NM_000277.3(PAH):c.168_168+1delinsAA	PAH	Indel (splice donor variant)	Phenylketonuria	GLikely pathogenic 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 102601	NM_000277.3(PAH):c.158G>A (p.Arg53His)	PAH (R53H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102600	NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	PAH (R53C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 608	NM_000277.3(PAH):c.143T>C (p.Leu48Ser)	PAH (L48S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 188933	NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)	PAH (F39del)	Microsatellite (inframe_deletion)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 605	NM_000277.3(PAH):c.117C>G (p.Phe39Leu)	PAH (F39L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102751	NM_000277.3(PAH):c.60+5G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria +3 more	GPathogenic
Select item 102649	NM_000277.3(PAH):c.30C>G (p.Gly10=)	PAH	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2688611	NM_004316.4(ASCL1):c.102_114delinsC (p.Ala44_Ala47del)	ASCL1, PAH	Indel (5 prime UTR variant)	not provided	GUncertain significance

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Items: 66