"GeneDx"[submitter] AND "UROD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579838	NM_000374.5(UROD):c.173C>T (p.Thr58Met)	UROD (T58M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695444	NM_000374.5(UROD):c.430C>T (p.Arg144Ter)	UROD (R144*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 73	NM_000374.5(UROD):c.494T>G (p.Met165Arg)	UROD (M165R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 68	NM_000374.5(UROD):c.499G>A (p.Glu167Lys)	UROD (E167K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1222058	NM_000374.5(UROD):c.636+132G>T	UROD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430039	NM_000374.5(UROD):c.874C>T (p.Arg292Trp)	UROD (R292W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1247764	NM_000374.5(UROD):c.942+55C>T	UROD	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar