"Revvity Omics, Revvity"[submitter] AND "PCBD1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16799	NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)	PCBD1 (Q98* +1 more)	Single nucleotide variant (nonsense +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GPathogenic/Likely pathogenic
Select item 2432444	NM_000281.4(PCBD1):c.117_121del (p.His39fs)	PCBD1 (H39fs)	Microsatellite (frameshift variant +1 more)	Pterin-4 alpha-carbinolamine dehydratase 1 deficiency	GLikely pathogenic