"Baylor Genetics"[submitter] AND "LOC130006765"[gene] - ClinVar - NCBI

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Items: 8

	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)	LOC130006765, PTS (R25*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	GPathogenic
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 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