"Ambry Genetics"[submitter] AND "PTS"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3149728	NM_000317.3(PTS):c.40G>A (p.Val14Met)	LOC130006765, PTS (V14M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950089	NM_000317.3(PTS):c.130A>G (p.Asn44Asp)	PTS (N44D)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GUncertain significance
Select item 3149727	NM_000317.3(PTS):c.131A>G (p.Asn44Ser)	PTS (N44S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 983370	NM_000317.3(PTS):c.186G>A (p.Glu62=)	PTS	Single nucleotide variant (synonymous variant)	Seizure +2 more	GUncertain significance
Select item 2488812	NM_000317.3(PTS):c.194C>T (p.Pro65Leu)	PTS (P65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1513818	NM_000317.3(PTS):c.379C>G (p.Leu127Val)	PTS (L127V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity