"Ambry Genetics"[submitter] AND "PAH"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3208023	NM_000277.3(PAH):c.1347G>T (p.Gln449His)	PAH (Q449H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1912436	NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)	PAH (L448F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2421739	NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)	PAH (R420G)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic/Likely pathogenic
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 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 1903246	NM_000277.3(PAH):c.1080G>A (p.Glu360=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria +1 more	GLikely benign
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 763076	NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)	PAH (G337E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1767270	NM_000277.3(PAH):c.952A>G (p.Ile318Val)	PAH (I318V)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GUncertain significance
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 578020	NM_000277.3(PAH):c.880T>A (p.Phe294Ile)	LOC126861615, PAH (F294I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 516006	NM_000277.3(PAH):c.837C>T (p.Pro279=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign FDA Recognized database
Select item 2226702	NM_000277.3(PAH):c.826A>T (p.Met276Leu)	PAH (M276L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 975467	NM_000277.3(PAH):c.821A>G (p.Lys274Arg)	PAH (K274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1137315	NM_000277.3(PAH):c.804C>T (p.Tyr268=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria +1 more	GLikely benign
Select item 1635041	NM_000277.3(PAH):c.792C>T (p.His264=)	PAH	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 590340	NM_000277.3(PAH):c.772C>T (p.Leu258=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign 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 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 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 2388853	NM_000277.3(PAH):c.668A>G (p.Asn223Ser)	PAH (N223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754238	NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)	PAH (F219Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 102746	NM_000277.3(PAH):c.592_613del (p.Tyr198fs)	PAH (Y198fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120282	NM_000277.3(PAH):c.612T>C (p.Tyr204=)	PAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 102756	NM_000277.3(PAH):c.609C>T (p.Cys203=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 92746	NM_000277.3(PAH):c.533A>G (p.Glu178Gly)	PAH (E178G)	Single nucleotide variant (missense variant)	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 664621	NM_000277.3(PAH):c.516G>T (p.Gln172His)	PAH (Q172H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic 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 102671	NM_000277.3(PAH):c.441+1G>A	PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 991623	NM_000277.3(PAH):c.420G>A (p.Ala140=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 729975	NM_000277.3(PAH):c.399T>C (p.Asn133=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GBenign 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 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 636	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH (I65T)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic 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 629	NM_000277.3(PAH):c.136G>A (p.Gly46Ser)	PAH (G46S)	Single nucleotide variant (missense variant)	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 2292141	NM_004316.4(ASCL1):c.47C>A (p.Pro16His)	ASCL1, PAH (P16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317868	NM_004316.4(ASCL1):c.51G>T (p.Gln17His)	ASCL1, PAH (Q17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397272	NM_004316.4(ASCL1):c.127G>A (p.Ala43Thr)	ASCL1, PAH (A43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601447	NM_004316.4(ASCL1):c.134C>T (p.Ala45Val)	ASCL1, PAH (A45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548874	NM_004316.4(ASCL1):c.188C>A (p.Ala63Glu)	ASCL1, PAH (A63E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 56