"UROD-Related Disorders"[Disease/phenotype] AND "Women's Health and Ge - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254172	NM_000374.5(UROD):c.578G>C (p.Arg193Pro)	UROD (R193P)	Single nucleotide variant (missense variant +1 more)	UROD-Related Disorders +1 more	GLikely pathogenic
Select item 3063966	NM_000374.5(UROD):c.651dup (p.Glu218Ter)	UROD (E218*)	Duplication (non-coding transcript variant +1 more)	UROD-Related Disorders	GPathogenic