C4551496[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805967	NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)	UMOD (E397K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance
Select item 423637	NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys)	UMOD (Y183C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807521	NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)	UMOD (C106Y +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia +1 more	GPathogenic/Likely pathogenic
Select item 242346	NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)	UMOD	Indel (inframe_indel +1 more)	Autosomal dominant medullary cystic kidney disease with or without hyperuricemia +2 more	GPathogenic
Select item 975071	NM_003361.4(UMOD):c.150C>G (p.Cys50Trp)	UMOD (C50W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GLikely pathogenic
Select item 1698958	NM_003361.4(UMOD):c.115G>C (p.Ala39Pro)	UMOD (A39P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1	GUncertain significance

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