"Eurofins Ntd Llc (ga)"[submitter] AND "UMOD"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496847	NM_003361.4(UMOD):c.1740+38C>T	UMOD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 598312	NM_003361.4(UMOD):c.1588_1589del (p.His529_Thr530insTer)	UMOD	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 318288	NM_003361.4(UMOD):c.1458C>T (p.Tyr486=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 198492	NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)	UMOD (T469M +2 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GConflicting classifications of pathogenicity
Select item 290985	NM_003361.4(UMOD):c.1372G>T (p.Val458Leu)	UMOD (V458L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 94133	NM_003361.4(UMOD):c.944G>A (p.Cys315Tyr)	UMOD (C315Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 94132	NM_003361.4(UMOD):c.885G>A (p.Gly295=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 196362	NM_003361.4(UMOD):c.840C>T (p.Pro280=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 94131	NM_003361.4(UMOD):c.792G>A (p.Val264=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +2 more	GBenign
Select item 287876	NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)	UMOD (C248W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 196361	NM_003361.4(UMOD):c.539T>C (p.Leu180Pro)	UMOD (L180P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +1 more	GUncertain significance
Select item 196363	NM_003361.4(UMOD):c.538C>G (p.Leu180Val)	UMOD (L180V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 94130	NM_003361.4(UMOD):c.522C>T (p.Cys174=)	UMOD	Single nucleotide variant (synonymous variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +2 more	GBenign
Select item 94129	NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)	UMOD (C106F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial juvenile hyperuricemic nephropathy type 1 +2 more	GConflicting classifications of pathogenicity
Select item 318299	NM_003361.4(UMOD):c.-47T>C	UMOD	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign