Related gene-specific medical variations for Gene (Select 8725) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331243	NM_003796.3(URI1):c.114A>G (p.Glu38=)	LOC130064143, URI1	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3186978	NM_003796.3(URI1):c.80C>G (p.Ala27Gly)	LOC130064143, URI1 (A27G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186974	NM_003796.3(URI1):c.44C>T (p.Pro15Leu)	LOC130064143, URI1 (P15L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186972	NM_003796.3(URI1):c.34C>T (p.Pro12Ser)	LOC130064143, URI1 (P12S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186971	NM_003796.3(URI1):c.21G>C (p.Glu7Asp)	LOC130064143, URI1 (E7D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2649668	NM_003796.3(URI1):c.102C>G (p.Arg34=)	LOC130064143, URI1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2408140	NM_003796.3(URI1):c.85G>A (p.Asp29Asn)	LOC130064143, URI1 (D29N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar