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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 102596	NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)	PAH	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551287	NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)	PAH (L444F)	Single nucleotide variant (missense variant)	Phenylketonuria	GConflicting classifications of pathogenicity
Select item 102590	NM_000277.3(PAH):c.1315+6T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 555797	NM_000277.3(PAH):c.1314_1315+4del	PAH	Deletion (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102589	NM_000277.3(PAH):c.1315+4A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 370074	NM_000277.3(PAH):c.1315+1G>T	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102586	NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	PAH (A434D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 370288	NM_000277.3(PAH):c.1298dup (p.Leu433fs)	PAH (L433fs)	Duplication (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 551307	NM_000277.3(PAH):c.1293_1294del (p.Lys431fs)	PAH (K431fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 551555	NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	PAH (Q429K)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 371497	NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)	PAH (Q428*)	Single nucleotide variant (nonsense)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
Select item 552488	NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)	PAH (Q419R)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102580	NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)	PAH (T418P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 558091	NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	PAH (P416Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 102571	NM_000277.3(PAH):c.1229T>C (p.Phe410Ser)	PAH (F410S)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 102568	NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)	PAH (P407S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 552907	NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	PAH (I406M)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 557999	NM_000277.3(PAH):c.1209del (p.Ala404fs)	PAH (A404fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 102565	NM_000277.3(PAH):c.1200-8G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120264	NM_000277.3(PAH):c.1199+70G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
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 557365	NM_000277.3(PAH):c.1199+2T>G	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
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 102556	NM_000277.3(PAH):c.1199+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102561	NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)	PAH (R400K)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 102554	NM_000277.3(PAH):c.1198del (p.Arg400fs)	PAH (R400fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102553	NM_000277.3(PAH):c.1198A>C (p.Arg400=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria +2 more	GConflicting classifications of pathogenicity
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 102549	NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)	PAH (A395G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 551709	NM_000277.3(PAH):c.1180del (p.Asp394fs)	PAH (D394fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 553594	NM_000277.3(PAH):c.1171_1172del (p.Ser391fs)	PAH (S391fs)	Microsatellite (frameshift 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 102543	NM_000277.3(PAH):c.1166del (p.Ala389fs)	PAH (A389fs)	Deletion (frameshift 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 102538	NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)	PAH (Y386C)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 551270	NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)	PAH (P384S)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 370701	NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)	PAH (Q383*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 556882	NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)	PAH (F382L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102528	NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)	PAH (T372S)	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 554266	NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)	PAH (K363N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 102518	NM_000277.3(PAH):c.1089del (p.Lys363fs)	PAH (K363fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102517	NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)	PAH (K363N)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 556817	NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)	PAH (L358F)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 552458	NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)	PAH (C357R)	Single nucleotide variant (missense variant)	Phenylketonuria	GConflicting classifications of pathogenicity
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 102510	NM_000277.3(PAH):c.1066-31G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 102503	NM_000277.3(PAH):c.1065+39G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102501	NM_000277.3(PAH):c.1065+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102498	NM_000277.3(PAH):c.1055del (p.Gly352fs)	PAH (G352fs)	Deletion (frameshift 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 102484	NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)	PAH (A345S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102482	NM_000277.3(PAH):c.1031G>T (p.Gly344Val)	PAH (G344V)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102475	NM_000277.3(PAH):c.1024del (p.Ala342fs)	PAH (A342fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 371278	NM_000277.3(PAH):c.992T>C (p.Phe331Ser)	PAH (F331S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 579	NM_000277.3(PAH):c.977G>A (p.Trp326Ter)	PAH (W326*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102921	NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)	PAH (Y325*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92756	NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	PAH (Y325C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 550240	NM_000277.3(PAH):c.969+7C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
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 102917	NM_000277.3(PAH):c.969A>G (p.Thr323=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102913	NM_000277.3(PAH):c.968_970del (p.Thr323del)	PAH (T323del)	Deletion (inframe_deletion)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 616	NM_000277.3(PAH):c.965C>G (p.Ala322Gly)	PAH (A322G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 102907	NM_000277.3(PAH):c.941C>A (p.Pro314His)	PAH (P314H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102904	NM_000277.3(PAH):c.940C>A (p.Pro314Thr)	PAH (P314T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102902	NM_000277.3(PAH):c.937G>A (p.Ala313Thr)	PAH (A313T)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
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 102897	NM_000277.3(PAH):c.926C>A (p.Ala309Asp)	PAH (A309D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
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 618	NM_000277.3(PAH):c.916A>G (p.Ile306Val)	PAH (I306V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 553019	NM_000277.3(PAH):c.913-2A>C	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 102894	NM_000277.3(PAH):c.913-7A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102892	NM_000277.3(PAH):c.912G>A (p.Gln304=)	PAH, LOC126861615	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 558132	NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	LOC126861615, PAH (Q304*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102887	NM_000277.3(PAH):c.899C>T (p.Ala300Val)	LOC126861615, PAH (A300V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 92750	NM_000277.3(PAH):c.890G>A (p.Arg297His)	LOC126861615, PAH (R297H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 558612	NM_000277.3(PAH):c.870T>G (p.His290Gln)	LOC126861615, PAH (H290Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102876	NM_000277.3(PAH):c.847A>T (p.Ile283Phe)	LOC126861615, PAH (I283F)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic
Select item 102874	NM_000277.3(PAH):c.844G>A (p.Asp282Asn)	LOC126861615, PAH (D282N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 102872	NM_000277.3(PAH):c.842+5G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
Select item 102871	NM_000277.3(PAH):c.842+3G>C	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 102863	NM_000277.3(PAH):c.833C>T (p.Thr278Ile)	PAH (T278I)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102862	NM_000277.3(PAH):c.833C>A (p.Thr278Asn)	PAH (T278N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102860	NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)	PAH (Y277C)	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 551519	NM_000277.3(PAH):c.828G>A (p.Met276Ile)	PAH (M276I)	Single nucleotide variant (missense variant)	Phenylketonuria	GConflicting classifications of pathogenicity
Select item 102856	NM_000277.3(PAH):c.826A>G (p.Met276Val)	PAH (M276V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102855	NM_000277.3(PAH):c.824C>T (p.Pro275Leu)	PAH (P275L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102854	NM_000277.3(PAH):c.824C>G (p.Pro275Arg)	PAH (P275R)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102853	NM_000277.3(PAH):c.823C>T (p.Pro275Ser)	PAH (P275S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102851	NM_000277.3(PAH):c.820A>G (p.Lys274Glu)	PAH (K274E)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely benign FDA Recognized database
Select item 102844	NM_000277.3(PAH):c.806del (p.Ile269fs)	PAH (I269fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 556296	NM_000277.3(PAH):c.800A>G (p.Gln267Arg)	PAH (Q267R)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database

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