CN305333[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 313361	NM_000161.3(GCH1):c.*1628A>C	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
Select item 883620	NM_000161.3(GCH1):c.*1033C>T	GCH1	Single nucleotide variant (3 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance
Select item 881769	NM_000161.3(GCH1):c.*34C>T	GCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Dystonia 5 +2 more	GUncertain significance
Select item 444330	NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)	GCH1 (Q110E)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia +3 more	GUncertain significance
Select item 1391073	NM_000161.3(GCH1):c.299C>T (p.Ser100Leu)	GCH1 (S100L)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GUncertain significance
Select item 1431041	NM_000161.3(GCH1):c.16G>T (p.Val6Leu)	GCH1, LOC130055692 (V6L)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GUncertain significance
Select item 313400	NM_000161.3(GCH1):c.-56G>A	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	Dystonia 5 +2 more	GUncertain significance

ClinVar