"Baylor Genetics"[submitter] AND "UROC1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032449	NM_144639.3(UROC1):c.640G>A (p.Gly214Ser)	UROC1 (G214S)	Single nucleotide variant (missense variant)	Urocanate hydratase deficiency	GUncertain significance
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic