PAH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 306909	NM_000277.3(PAH):c.772_775del	PAH	Deletion (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 306910	NM_000277.3(PAH):c.*735T>C	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 880618	NM_000277.3(PAH):c.*699C>T	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 880619	NM_000277.3(PAH):c.*650A>G	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 880620	NM_000277.3(PAH):c.*272C>T	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 306911	NM_000277.3(PAH):c.*187G>A	PAH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 657680	NM_000277.3(PAH):c.*144A>G	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 306912	NM_000277.3(PAH):c.*79G>A	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
Select item 882030	NM_000277.3(PAH):c.*42A>G	PAH	Single nucleotide variant (3 prime UTR variant)	Phenylketonuria	GUncertain significance
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 194161	NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)	PAH	Microsatellite (frameshift variant +1 more)	Phenylketonuria	GLikely pathogenic 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 1124483	NM_000277.3(PAH):c.1353A>C (p.Ile451=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria +1 more	GLikely benign
Select item 1146245	NM_000277.3(PAH):c.1344C>T (p.Leu448=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1912436	NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)	PAH (L448F)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 1152040	NM_000277.3(PAH):c.1341C>A (p.Ala447=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 102595	NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)	PAH (A447D)	Single nucleotide variant (missense variant)	PAH-related condition +2 more	GPathogenic
Select item 857071	NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)	PAH (A447T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2677439	NM_000277.3(PAH):c.1334del (p.Cys445fs)	PAH (C445fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 991615	NM_000277.3(PAH):c.1334G>T (p.Cys445Phe)	PAH (C445F)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 1108021	NM_000277.3(PAH):c.1332T>G (p.Leu444=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
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 1146470	NM_000277.3(PAH):c.1329C>A (p.Ile443=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 932274	NM_000277.3(PAH):c.1318G>T (p.Glu440Ter)	PAH (E440*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1810392	NM_000277.3(PAH):c.1316-1G>C	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 635216	NM_000277.3(PAH):c.1316-1G>A	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 439226	NM_000277.3(PAH):c.1316-2A>G	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102593	NM_000277.3(PAH):c.1316-5T>C	PAH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1623713	NM_000277.3(PAH):c.1316-8C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2813014	NM_000277.3(PAH):c.1316-9T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2778404	NM_000277.3(PAH):c.1316-11T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 102591	NM_000277.3(PAH):c.1316-15T>C	PAH	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2718039	NM_000277.3(PAH):c.1316-17G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	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 1599862	NM_000277.3(PAH):c.1315+20C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria +1 more	GBenign/Likely benign
Select item 2916262	NM_000277.3(PAH):c.1315+17T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2892472	NM_000277.3(PAH):c.1315+16C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2854891	NM_000277.3(PAH):c.1315+14del	PAH	Deletion (intron variant)	Phenylketonuria	GLikely benign
Select item 2914735	NM_000277.3(PAH):c.1315+13C>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2693397	NM_000277.3(PAH):c.1315+10T>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 1106137	NM_000277.3(PAH):c.1315+9T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2730946	NM_000277.3(PAH):c.1315+7A>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 102590	NM_000277.3(PAH):c.1315+6T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 872836	NM_000277.3(PAH):c.1315+5G>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance 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 102588	NM_000277.3(PAH):c.1315+2T>C	PAH	Single nucleotide variant (splice donor 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 576	NM_000277.3(PAH):c.1315+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 2445852	NM_000277.3(PAH):c.1315A>G (p.Ser439Gly)	PAH (S439G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932270	NM_000277.3(PAH):c.1312A>G (p.Asn438Asp)	PAH (N438D)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 932273	NM_000277.3(PAH):c.1306del (p.Ser436fs)	PAH (S436fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 2026554	NM_000277.3(PAH):c.1305T>C (p.Asp435=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 625291	NM_000277.3(PAH):c.1304A>T (p.Asp435Val)	PAH (D435V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1327550	NM_000277.3(PAH):c.1301C>T (p.Ala434Val)	PAH (A434V)	Single nucleotide variant (missense 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 1594041	NM_000277.3(PAH):c.1299G>A (p.Leu433=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
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 102585	NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)	PAH (L430P)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1079099	NM_000277.3(PAH):c.1287G>A (p.Gln429=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 193988	NM_000277.3(PAH):c.1286A>C (p.Gln429Pro)	PAH (Q429P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1952308	NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)	PAH (Q428E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1185010	NM_000277.3(PAH):c.1282del (p.Gln428fs)	PAH (Q428fs)	Deletion (frameshift 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)	not provided +1 more	GPathogenic/Likely pathogenic
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 2682032	NM_000277.3(PAH):c.1273G>A (p.Asp425Asn)	PAH (D425N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987757	NM_000277.3(PAH):c.1271T>A (p.Leu424Ter)	PAH (L424*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102584	NM_000277.3(PAH):c.1271T>C (p.Leu424Ser)	PAH (L424S)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 1130520	NM_000277.3(PAH):c.1270T>C (p.Leu424=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2107946	NM_000277.3(PAH):c.1266G>A (p.Glu422=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 102583	NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)	PAH (E422K)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 639999	NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)	PAH (I421S)	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 1518834	NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)	PAH (R420T)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
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 2421739	NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)	PAH (R420G)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 1652142	NM_000277.3(PAH):c.1257A>G (p.Gln419=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
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 1157741	NM_000277.3(PAH):c.1254C>A (p.Thr418=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1134496	NM_000277.3(PAH):c.1254C>T (p.Thr418=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2735927	NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)	PAH (T418N)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 937913	NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)	PAH (T418I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
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 1160669	NM_000277.3(PAH):c.1251C>T (p.Tyr417=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1327551	NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)	PAH (Y417C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1327552	NM_000277.3(PAH):c.1249T>G (p.Tyr417Asp)	PAH (Y417D)	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 102578	NM_000277.3(PAH):c.1249T>A (p.Tyr417Asn)	PAH (Y417N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2887506	NM_000277.3(PAH):c.1248A>G (p.Pro416=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1087193	NM_000277.3(PAH):c.1248A>C (p.Pro416=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
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 987913	NM_000277.3(PAH):c.1246C>A (p.Pro416Thr)	PAH (P416T)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 2005589	NM_000277.3(PAH):c.1245C>T (p.Asp415=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign

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