C0031485[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 592	NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)	PAH (R413P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 625	NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)	PAH (E390G)	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 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 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 613	NM_000277.3(PAH):c.896T>G (p.Phe299Cys)	LOC126861615, PAH (F299C)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GPathogenic
Select item 102872	NM_000277.3(PAH):c.842+5G>A	PAH	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 596	NM_000277.3(PAH):c.814G>T (p.Gly272Ter)	PAH (G272*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic 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 610	NM_000277.3(PAH):c.781C>T (p.Arg261Ter)	PAH (R261*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
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 102784	NM_000277.3(PAH):c.688G>A (p.Val230Ile)	PAH (V230I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 133249	NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)	PAH	Deletion (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102736	NM_000277.3(PAH):c.561G>A (p.Trp187Ter)	PAH (W187*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic 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 587	NM_000277.3(PAH):c.473G>A (p.Arg158Gln)	PAH (R158Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102688	NM_000277.3(PAH):c.466G>C (p.Ala156Pro)	PAH (A156P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 92742	NM_000277.3(PAH):c.441+5G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic 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 102667	NM_000277.3(PAH):c.434A>T (p.Asp145Val)	PAH (D145V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 581	NM_000277.3(PAH):c.331C>T (p.Arg111Ter)	PAH (R111*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 102650	NM_000277.3(PAH):c.311C>A (p.Ala104Asp)	PAH (A104D)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
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 92734	NM_000277.3(PAH):c.165T>G (p.Phe55Leu)	PAH (F55L)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia +3 more	GPathogenic/Likely pathogenic
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 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

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Items: 35