C0878676[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1067052	NM_000317.3(PTS):c.-24_9del	LOC130006765, PTS	Deletion	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2678105	NM_000317.3(PTS):c.23_27dup (p.Cys10fs)	LOC130006765, PTS (C10fs)	Duplication (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 477	NM_000317.3(PTS):c.46C>T (p.Arg16Cys)	LOC130006765, PTS (R16C)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GConflicting classifications of pathogenicity
Select item 859996	NM_000317.3(PTS):c.73C>T (p.Arg25Ter)	PTS, LOC130006765 (R25*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 476	NM_000317.3(PTS):c.74G>A (p.Arg25Gln)	LOC130006765, PTS (R25Q)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 1308635	NM_000317.3(PTS):c.78G>T (p.Leu26Phe)	LOC130006765, PTS (L26F)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2678104	NM_000317.3(PTS):c.83+1G>C	LOC130006765, PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 649292	NM_000317.3(PTS):c.84-291A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 553378	NM_000317.3(PTS):c.84-3C>G	PTS	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2144321	NM_000317.3(PTS):c.84-2A>G	PTS	Single nucleotide variant (splice acceptor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 1068143	NM_000317.3(PTS):c.104A>G (p.Glu35Gly)	PTS (E35G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely 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)	not provided +1 more	GPathogenic
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)	PTS-related condition +2 more	GPathogenic
Select item 1310415	NM_000317.3(PTS):c.164-672C>T	PTS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1378622	NM_000317.3(PTS):c.174_175del (p.Val59fs)	PTS (V59fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
Select item 2137247	NM_000317.3(PTS):c.186+1G>A	PTS	Single nucleotide variant (splice donor variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
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 463151	NM_000317.3(PTS):c.200C>T (p.Thr67Met)	PTS (T67M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 372484	NM_000317.3(PTS):c.238A>G (p.Met80Val)	PTS (M80V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 2416618	NM_000317.3(PTS):c.245A>G (p.Glu82Gly)	PTS (E82G)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 480	NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	PTS (P87S)	Single nucleotide variant (missense variant)	Hyperphenylalaninemia due to tetrahydrobiopterin 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 2678102	NM_000317.3(PTS):c.271A>G (p.Lys91Glu)	PTS (K91E)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely pathogenic
Select item 813419	NM_000317.3(PTS):c.272A>G (p.Lys91Arg)	PTS (K91R)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2678101	NM_000317.3(PTS):c.276T>A (p.Asn92Lys)	PTS (N92K)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 372485	NM_000317.3(PTS):c.281A>G (p.Asp94Gly)	PTS (D94G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 370413	NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	PTS (Y99*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1302929	NM_000317.3(PTS):c.308T>C (p.Val103Ala)	PTS (V103A)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
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 552175	NM_000317.3(PTS):c.317C>T (p.Thr106Met)	PTS (T106M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453083	NM_000317.3(PTS):c.331G>A (p.Ala111Thr)	PTS (A111T)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
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 1067696	NM_000317.3(PTS):c.367C>T (p.Pro123Ser)	PTS (P123S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
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 1455604	NM_000317.3(PTS):c.379C>T (p.Leu127Phe)	PTS (L127F)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
Select item 2137249	NM_000317.3(PTS):c.385A>G (p.Lys129Glu)	PTS (K129E)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
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 2678103	NM_000317.3(PTS):c.399C>G (p.Tyr133Ter)	PTS (Y133*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GLikely 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1073772	NM_000317.3(PTS):c.407A>T (p.Asp136Val)	PTS (D136V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic/Likely pathogenic
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 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 102698	NM_000277.3(PAH):c.490A>G (p.Ile164Val)	PAH (I164V)	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)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 53