C0878676[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 480	NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	PTS (P87S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 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 628	NM_000277.3(PAH):c.1139C>T (p.Thr380Met)	PAH (T380M)	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