Related gene-specific medical variations for Gene (Select 126806801) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2609231	NM_144639.3(UROC1):c.1613C>T (p.Pro538Leu)	LOC126806801, UROC1 (P538L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608241	NM_144639.3(UROC1):c.1676C>A (p.Ser559Tyr)	LOC126806801, UROC1 (S619Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256203	NM_144639.3(UROC1):c.1703G>A (p.Cys568Tyr)	LOC126806801, UROC1 (C628Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248524	NM_144639.3(UROC1):c.1646G>A (p.Ser549Asn)	LOC126806801, UROC1 (S549N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684193	NM_144639.3(UROC1):c.1609-31T>G	LOC126806801, UROC1	Single nucleotide variant (intron variant)	Urocanate hydratase deficiency	GBenign
Select item 780409	NM_144639.3(UROC1):c.1653C>T (p.Thr551=)	LOC126806801, UROC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727533	NM_144639.3(UROC1):c.1641C>T (p.Asp547=)	LOC126806801, UROC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar