Related gene-specific medical variations for Gene (Select 7390) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244935	NC_000010.10:g.(?_127483429)_(127483567_?)del	UROS	Deletion	not provided	GPathogenic
Select item 65601	NM_000375.3(UROS):c.311C>T (p.Ala104Val)	UROS (A104V)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	Gnot provided
Select item 65600	NM_000375.3(UROS):c.139T>C (p.Ser47Pro)	UROS (S47P)	Single nucleotide variant (missense variant +1 more)	Cutaneous porphyria	Gnot provided
Select item 3757	UROS, 80-BP INS	UROS	Insertion	Cutaneous porphyria	GPathogenic
Select item 3756	NC_000010.11:g.125815036_125815132del	UROS	Deletion	Cutaneous porphyria	GPathogenic

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