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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 802885	NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)	PAH (L367fs)	Insertion (frameshift variant)	Phenylketonuria	GPathogenic
Select item 802886	NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)	PAH (P362R)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
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 582	NM_000277.3(PAH):c.782G>A (p.Arg261Gln)	PAH (R261Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 217885	NM_000277.1(PAH):c.[353-507G>T;754C>T]	PAH (R252W)	Single nucleotide variant (missense variant +1 more)	Phenylketonuria	GPathogenic
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 102703	NM_000277.3(PAH):c.500A>G (p.Asn167Ser)	PAH (N167S)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 802887	NM_000277.3(PAH):c.239dup (p.Thr81fs)	PAH (T81fs)	Duplication (frameshift variant)	Phenylketonuria	GPathogenic
Select item 102606	NM_000277.3(PAH):c.168+5G>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria +1 more	GPathogenic
Select item 102605	NM_000277.3(PAH):c.168+5G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 102601	NM_000277.3(PAH):c.158G>A (p.Arg53His)	PAH (R53H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 802888	NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)	ASCL1, PAH (A41S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1686519	NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not specified	GBenign