ClinVar for MedGen (Select 988270) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069162	NM_000161.3(GCH1):c.260_261insTGAGAACCCCCA (p.Pro86_Gln87insHisGluAsnPro)	GCH1	Insertion (inframe_insertion)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GLikely pathogenic
Select item 3061791	NM_000317.3(PTS):c.91C>A (p.Leu31Ile)	PTS (L31I)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GUncertain significance
Select item 3061790	NM_000317.3(PTS):c.108C>A (p.Asn36Lys)	PTS (N36K)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GLikely pathogenic
Select item 1695370	NM_000161.3(GCH1):c.644T>C (p.Met215Thr)	GCH1 (M215T)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GConflicting classifications of pathogenicity
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 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 1339055	NM_000161.3(GCH1):c.514G>A (p.Val172Ile)	GCH1 (V172I)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	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)	not provided +3 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
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 9290	NM_000161.3(GCH1):c.551G>A (p.Arg184His)	GCH1 (R184H)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +2 more	GPathogenic
Select item 9287	NM_000161.3(GCH1):c.633G>A (p.Met211Ile)	GCH1 (M211I)	Single nucleotide variant (missense variant +1 more)	GTP cyclohydrolase I deficiency with hyperphenylalaninemia	GPathogenic
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