C0268467[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9283	NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)	GCH1 (K224R)	Single nucleotide variant (missense variant +1 more)	Dopa-responsive dystonia +4 more	GConflicting classifications of pathogenicity
Select item 9281	NM_000161.3(GCH1):c.662T>C (p.Met221Thr)	GCH1 (M221T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +3 more	GConflicting classifications of pathogenicity
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	GPathogenic
Select item 529415	NM_000161.3(GCH1):c.626+1G>A	GCH1	Single nucleotide variant (splice donor variant)	GTP cyclohydrolase I deficiency +2 more	GPathogenic/Likely pathogenic
Select item 9290	NM_000161.3(GCH1):c.551G>A (p.Arg184His)	GCH1 (R184H)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GPathogenic
Select item 9279	NM_000161.3(GCH1):c.453+1G>C	GCH1	Single nucleotide variant (splice donor variant)	GTP cyclohydrolase I deficiency +1 more	GPathogenic
Select item 9282	NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)	GCH1 (G108D)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 9288	NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)	GCH1 (Q48*)	Single nucleotide variant (nonsense)	GTP cyclohydrolase I deficiency +1 more	GPathogenic

ClinVar