"UROD-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061020	NM_000374.5(UROD):c.21-10T>A	UROD	Single nucleotide variant (non-coding transcript variant +1 more)	UROD-related disorder	GLikely benign
Select item 1325337	NM_000374.5(UROD):c.138T>A (p.Phe46Leu)	UROD (F46L)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder +1 more	GLikely pathogenic
Select item 3045110	NM_000374.5(UROD):c.151G>A (p.Ala51Thr)	UROD (A51T)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder	GUncertain significance
Select item 2631472	NM_000374.5(UROD):c.271C>A (p.Pro91Thr)	UROD (P91T)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder	GUncertain significance
Select item 2635706	NM_000374.5(UROD):c.449C>T (p.Pro150Leu)	UROD (P150L)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder	GUncertain significance
Select item 3057409	NM_000374.5(UROD):c.675C>T (p.Gly225=)	UROD	Single nucleotide variant (synonymous variant +1 more)	UROD-related disorder	GLikely benign
Select item 72	NM_000374.5(UROD):c.942G>A (p.Glu314=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2633059	NM_000374.5(UROD):c.943-1G>A	UROD	Single nucleotide variant (splice acceptor variant)	UROD-related disorder	GPathogenic
Select item 876225	NM_000374.5(UROD):c.952G>A (p.Gly318Arg)	UROD (G318R)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder +3 more	GConflicting classifications of pathogenicity