"PreventionGenetics, part of Exact Sciences"[submitter] AND "GCH1"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574828	NM_000161.3(GCH1):c.614T>A (p.Val205Glu)	GCH1 (V205E)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +3 more	GPathogenic/Likely pathogenic
Select item 576815	NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe)	GCH1 (Y175F)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +3 more	GUncertain significance
Select item 313394	NM_000161.3(GCH1):c.509+8T>A	GCH1	Single nucleotide variant (intron variant)	GCH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 313395	NM_000161.3(GCH1):c.507G>A (p.Ala169=)	GCH1	Single nucleotide variant (synonymous variant)	Dystonia 5 +3 more	GConflicting classifications of pathogenicity
Select item 701169	NM_000161.3(GCH1):c.354C>T (p.Asn118=)	GCH1	Single nucleotide variant (synonymous variant)	GCH1-related disorder +2 more	GLikely benign
Select item 2161610	NM_000161.3(GCH1):c.343+9G>C	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +2 more	GLikely benign
Select item 1907536	NM_000161.3(GCH1):c.343+7G>T	GCH1	Single nucleotide variant (intron variant)	Dystonia 5 +2 more	GLikely benign
Select item 255398	NM_000161.3(GCH1):c.211C>T (p.Leu71=)	GCH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 161247	NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)	GCH1 (P69L)	Single nucleotide variant (missense variant)	GCH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3050919	NM_000161.3(GCH1):c.92G>T (p.Gly31Val)	GCH1, LOC130055692 (G31V)	Single nucleotide variant (missense variant)	GCH1-related disorder	GUncertain significance
Select item 313397	NM_000161.3(GCH1):c.69C>T (p.Pro23=)	GCH1, LOC130055692	Single nucleotide variant (synonymous variant)	GCH1-related disorder +3 more	GBenign/Likely benign
Select item 313398	NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)	GCH1, LOC130055692 (P23L)	Single nucleotide variant (missense variant)	GCH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 255397	NM_000161.3(GCH1):c.-40C>T	GCH1, LOC130055692	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign