C0878676[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552463	NM_000317.3(PTS):c.26G>A (p.Arg9His)	LOC130006765, PTS (R9H)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 463153	NM_000317.3(PTS):c.73C>G (p.Arg25Gly)	LOC130006765, PTS (R25G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 552817	NM_000317.3(PTS):c.83+1G>A	LOC130006765, PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 553378	NM_000317.3(PTS):c.84-3C>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 555429	NM_000317.3(PTS):c.108C>G (p.Asn36Lys)	PTS (N36K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 550850	NM_000317.3(PTS):c.118_121del (p.Phe40fs)	PTS (F40fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 553950	NM_000317.3(PTS):c.118T>C (p.Phe40Leu)	PTS (F40L)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 558152	NM_000317.3(PTS):c.146A>G (p.His49Arg)	PTS, TEX12 (H49R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 479	NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	PTS (N52S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 552046	NM_000317.3(PTS):c.164-7T>A	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 553634	NM_000317.3(PTS):c.164-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 551630	NM_000317.3(PTS):c.166GTG[1] (p.Val57del)	PTS (V57del)	Microsatellite (inframe_deletion)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 481	NM_000317.3(PTS):c.166G>A (p.Val56Met)	PTS (V56M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 556264	NM_000317.3(PTS):c.186+1G>T	PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 551578	NM_000317.3(PTS):c.187A>G (p.Ile63Val)	PTS (I63V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 463151	NM_000317.3(PTS):c.200C>T (p.Thr67Met)	PTS (T67M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 554191	NM_000317.3(PTS):c.216T>A (p.Asn72Lys)	PTS (N72K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 553847	NM_000317.3(PTS):c.227_228del (p.Leu76fs)	PTS (L76fs)	Microsatellite (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 554248	NM_000317.3(PTS):c.243_243+1dup	PTS	Duplication (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 551511	NM_000317.3(PTS):c.244-1G>T	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 432083	NM_000317.3(PTS):c.248C>A (p.Ala83Glu)	PTS (A83E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 480	NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	PTS (P87S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +2 more	GPathogenic
Select item 553829	NM_000317.3(PTS):c.260C>T (p.Pro87Leu)	PTS (P87L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 484	NM_000317.3(PTS):c.286G>A (p.Asp96Asn)	PTS (D96N)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 555095	NM_000317.3(PTS):c.289G>A (p.Val97Met)	PTS (V97M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 553441	NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)	PTS (Y99C)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 370413	NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	PTS (Y99*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 557025	NM_000317.3(PTS):c.314+1G>C	PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 558308	NM_000317.3(PTS):c.315-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 554579	NM_000317.3(PTS):c.315-1G>C	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 552175	NM_000317.3(PTS):c.317C>T (p.Thr106Met)	PTS (T106M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 557771	NM_000317.3(PTS):c.326A>G (p.Asn109Ser)	PTS (N109S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 551176	NM_000317.3(PTS):c.337del (p.Tyr113fs)	PTS (Y113fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 553103	NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)	PTS (Y113C)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 558723	NM_000317.3(PTS):c.340A>G (p.Ile114Val)	PTS (I114V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 483	NM_000317.3(PTS):c.347A>G (p.Asp116Gly)	PTS (D116G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 556231	NM_000317.3(PTS):c.370G>T (p.Val124Leu)	PTS (V124L)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 556173	NM_000317.3(PTS):c.393del (p.Val132fs)	PTS (V132fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 556230	NM_000317.3(PTS):c.400G>A (p.Glu134Lys)	PTS (E134K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 555399	NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	PTS (E134*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 550683	NM_000317.3(PTS):c.402A>C (p.Glu134Asp)	PTS (E134D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GUncertain significance
Select item 102766	NM_000277.3(PAH):c.631C>A (p.Pro211Thr)	PAH (P211T)	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 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 102677	NM_000277.3(PAH):c.442-5C>G	PAH	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +2 more	GPathogenic/Likely pathogenic

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Items: 45