C0031485[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194161	NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)	PAH	Microsatellite (frameshift variant +1 more)	Phenylketonuria	GLikely pathogenic 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 2677439	NM_000277.3(PAH):c.1334del (p.Cys445fs)	PAH (C445fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely 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 932265	NM_000277.3(PAH):c.1316-2A>C	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102590	NM_000277.3(PAH):c.1315+6T>A	PAH	Single nucleotide variant (intron 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 102588	NM_000277.3(PAH):c.1315+2T>C	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
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 102586	NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)	PAH (A434D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 102582	NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)	PAH (I421T)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 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 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 940659	NM_000277.3(PAH):c.1238G>A (p.Arg413His)	PAH (R413H)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
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 102576	NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)	PAH (R413C)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102575	NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)	PAH (R413S)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
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 619167	NM_000277.3(PAH):c.1216A>G (p.Ile406Val)	PAH (I406V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 92730	NM_000277.3(PAH):c.1200-1G>A	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 862570	NM_000277.3(PAH):c.1200-2A>G	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 102556	NM_000277.3(PAH):c.1199+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102554	NM_000277.3(PAH):c.1198del (p.Arg400fs)	PAH (R400fs)	Deletion (frameshift 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 102550	NM_000277.3(PAH):c.1194A>G (p.Lys398=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 962987	NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)	PAH (K396R)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 102547	NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)	PAH (A395P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 3240004	NM_000277.3(PAH):c.1179_1180del (p.Asn393fs)	PAH (N393fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
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 2137404	NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)	PAH (S391I)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
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 102539	NM_000277.3(PAH):c.1159T>C (p.Tyr387His)	PAH (Y387H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 1693226	NM_000277.3(PAH):c.1136T>C (p.Val379Ala)	PAH (V379A)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102532	NM_000277.3(PAH):c.1127del (p.Asn376fs)	PAH (N376fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 660581	NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)	PAH (Q375E)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102529	NM_000277.3(PAH):c.1117G>A (p.Ala373Thr)	PAH (A373T)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 625290	NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)	PAH (E370G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1327564	NM_000277.3(PAH):c.1105C>G (p.Leu369Val)	PAH (L369V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102522	NM_000277.3(PAH):c.1099dup (p.Leu367fs)	PAH (L367fs)	Duplication (frameshift variant)	Phenylketonuria	GPathogenic 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 102518	NM_000277.3(PAH):c.1089del (p.Lys363fs)	PAH (K363fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102515	NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)	PAH (P362T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 1327561	NM_000277.3(PAH):c.1076C>T (p.Ser359Leu)	PAH (S359L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 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 102512	NM_000277.3(PAH):c.1066T>C (p.Tyr356His)	PAH (Y356H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance 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 987758	NM_000277.3(PAH):c.1066-13T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 102508	NM_000277.3(PAH):c.1066-14C>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1120177	NM_000277.3(PAH):c.1065+241C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic
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 102498	NM_000277.3(PAH):c.1055del (p.Gly352fs)	PAH (G352fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102497	NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)	PAH (G352C)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 102490	NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)	PAH (S349A)	Single nucleotide variant (missense variant)	Phenylketonuria	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 102483	NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	PAH (A345T)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102481	NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	PAH (G344D)	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 102475	NM_000277.3(PAH):c.1024del (p.Ala342fs)	PAH (A342fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102468	NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)	PAH (D338Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 2677430	NM_000277.3(PAH):c.1002C>A (p.Cys334Ter)	PAH (C334*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 624	NM_000277.3(PAH):c.997C>T (p.Leu333Phe)	PAH (L333F)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 2573212	NM_000277.3(PAH):c.994G>A (p.Gly332Arg)	PAH (G332R)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 102926	NM_000277.3(PAH):c.992T>G (p.Phe331Cys)	PAH (F331C)	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 2677438	NM_000277.3(PAH):c.973_976del (p.Tyr325fs)	PAH (Y325fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
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 102916	NM_000277.3(PAH):c.969+6T>A	PAH	Single nucleotide variant (intron 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 102912	NM_000277.3(PAH):c.964G>A (p.Ala322Thr)	PAH (A322T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic 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 102903	NM_000277.3(PAH):c.938C>T (p.Ala313Val)	PAH (A313V)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102901	NM_000277.3(PAH):c.935G>A (p.Gly312Asp)	PAH (G312D)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 2677442	NM_000277.3(PAH):c.929C>G (p.Ser310Cys)	PAH (S310C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 102899	NM_000277.3(PAH):c.929C>T (p.Ser310Phe)	PAH (S310F)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 102896	NM_000277.3(PAH):c.922C>T (p.Leu308Phe)	PAH (L308F)	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 102894	NM_000277.3(PAH):c.913-7A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database

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