"Centogene AG - the Rare Disease Company"[submitter] AND "GCH1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1333858	NM_000161.3(GCH1):c.571G>A (p.Val191Ile)	GCH1 (V191I)	Single nucleotide variant (missense variant)	Dystonia 5 +1 more	GUncertain significance
Select item 161247	NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)	GCH1 (P69L)	Single nucleotide variant (missense variant)	GTP cyclohydrolase I deficiency +2 more	GConflicting classifications of pathogenicity