ClinVar (all) for Orgtrack (Select 506128) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428616	NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln)	PCBD1	Single nucleotide variant (stop lost +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GConflicting classifications of pathogenicity
Select item 9290	NM_000161.3(GCH1):c.551G>A (p.Arg184His)	GCH1 (R184H)	Single nucleotide variant (missense variant)	Dystonia 5 +2 more	GPathogenic