"GeneDx"[submitter] AND "PAH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 306911	NM_000277.3(PAH):c.*187G>A	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria +1 more	GBenign
Select item 255733	NM_000277.3(PAH):c.*19G>T	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102595	NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)	PAH (A447D)	Single nucleotide variant (missense variant)	PAH-related disorder +2 more	GPathogenic
Select item 102593	NM_000277.3(PAH):c.1316-5T>C	PAH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 102592	NM_000277.3(PAH):c.1316-35C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 1249792	NM_000277.3(PAH):c.1315+163del	PAH	Deletion (intron variant)	not provided	GBenign
Select item 1248699	NM_000277.3(PAH):c.1315+69G>A	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
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 92732	NM_000277.3(PAH):c.1278T>C (p.Asn426=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 932268	NM_000277.3(PAH):c.1259G>T (p.Arg420Met)	PAH (R420M)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102579	NM_000277.3(PAH):c.1249T>C (p.Tyr417His)	PAH (Y417H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 102577	NM_000277.3(PAH):c.1242C>T (p.Tyr414=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign 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 592	NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	PAH (R413P)	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 1225150	NM_000277.3(PAH):c.1200-186T>C	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183586	NM_000277.3(PAH):c.1200-251C>T	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179897	NM_000277.3(PAH):c.1199+264G>A	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 102555	NM_000277.3(PAH):c.1199+17G>A	PAH	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 102557	NM_000277.3(PAH):c.1199+1G>C	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 601	NM_000277.3(PAH):c.1197A>T (p.Val399=)	PAH	Single nucleotide variant (synonymous 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 102541	NM_000277.3(PAH):c.1162G>C (p.Val388Leu)	PAH (V388L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102538	NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	PAH (Y386C)	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 102526	NM_000277.3(PAH):c.1101G>A (p.Leu367=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102518	NM_000277.3(PAH):c.1089del (p.Lys363fs)	PAH (K363fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92729	NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)	PAH (Y356*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 595	NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)	PAH (Y356*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 623	NM_000277.3(PAH):c.1066-3C>T	PAH	Single nucleotide variant (intron 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 1265830	NM_000277.3(PAH):c.1066-193G>C	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261174	NM_000277.3(PAH):c.1066-236C>T	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286466	NM_000277.3(PAH):c.1065+205A>T	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264563	NM_000277.3(PAH):c.1065+156T>G	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242765	NM_000277.3(PAH):c.1065+155T>C	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 102498	NM_000277.3(PAH):c.1055del (p.Gly352fs)	PAH (G352fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102495	NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)	PAH (S350Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 615	NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)	PAH (S349P)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
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 102484	NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	PAH (A345S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic 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 102475	NM_000277.3(PAH):c.1024del (p.Ala342fs)	PAH (A342fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102924	NM_000277.3(PAH):c.990G>C (p.Glu330Asp)	PAH (E330D)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GLikely pathogenic
Select item 102923	NM_000277.3(PAH):c.982A>G (p.Thr328Ala)	PAH (T328A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1276704	NM_000277.3(PAH):c.970-195G>A	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286161	NM_000277.3(PAH):c.969+221T>G	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92755	NM_000277.3(PAH):c.969+43G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GBenign FDA Recognized database
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 102911	NM_000277.3(PAH):c.963C>T (p.Leu321=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 102910	NM_000277.3(PAH):c.960G>C (p.Lys320Asn)	PAH (K320N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92753	NM_000277.3(PAH):c.926C>T (p.Ala309Val)	PAH (A309V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 1279334	NM_000277.3(PAH):c.912+229C>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 92752	NM_000277.3(PAH):c.912+1G>A	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 379788	NM_000277.3(PAH):c.901C>A (p.Gln301Lys)	LOC126861615, PAH (Q301K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic
Select item 1269142	NM_000277.3(PAH):c.843-268T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236848	NM_000277.3(PAH):c.842+201G>T	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 102872	NM_000277.3(PAH):c.842+5G>A	PAH	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 439228	NM_000277.3(PAH):c.842+4A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic 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 2137406	NM_000277.3(PAH):c.839A>C (p.Glu280Ala)	PAH (E280A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 516006	NM_000277.3(PAH):c.837C>T (p.Pro279=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign FDA Recognized database
Select item 102852	NM_000277.3(PAH):c.822_832del (p.Lys274fs)	PAH (K274fs)	Deletion (frameshift 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 2152159	NM_000277.3(PAH):c.827T>C (p.Met276Thr)	PAH (M276T)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
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 102849	NM_000277.3(PAH):c.811C>T (p.His271Tyr)	PAH (H271Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102846	NM_000277.3(PAH):c.809G>A (p.Arg270Lys)	PAH (R270K)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102843	NM_000277.3(PAH):c.806T>A (p.Ile269Asn)	PAH (I269N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
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 102833	NM_000277.3(PAH):c.789C>G (p.Phe263Leu)	PAH (F263L)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance 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 422049	NM_000277.3(PAH):c.757G>A (p.Asp253Asn)	PAH (D253N)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance 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 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 102812	NM_000277.3(PAH):c.737C>A (p.Ala246Asp)	PAH (A246D)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 203874	NM_000277.3(PAH):c.734_735inv (p.Val245Ala)	PAH (V245A)	Inversion (missense variant)	not provided	GPathogenic
Select item 92748	NM_000277.3(PAH):c.735G>A (p.Val245=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign 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 102810	NM_000277.3(PAH):c.733G>C (p.Val245Leu)	PAH (V245L)	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 588	NM_000277.3(PAH):c.727C>T (p.Arg243Ter)	PAH (R243*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
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 102801	NM_000277.3(PAH):c.718T>G (p.Phe240Val)	PAH (F240V)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102796	NM_000277.3(PAH):c.712A>C (p.Thr238Pro)	PAH (T238P)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102795	NM_000277.3(PAH):c.707-7A>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GBenign FDA Recognized database
Select item 1286233	NM_000277.3(PAH):c.706+56G>A	PAH	Single nucleotide variant (intron variant)	not provided	GBenign
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 2139677	NM_000277.3(PAH):c.670A>C (p.Ile224Leu)	PAH (I224L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

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