C2751310[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1599136	NM_000537.4(REN):c.819-45TCTG[11]	REN	Microsatellite (intron variant)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GBenign/Likely benign
Select item 874723	NM_000537.4(REN):c.718G>A (p.Gly240Arg)	REN (G240R)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +4 more	GUncertain significance
Select item 1413950	NM_000537.4(REN):c.533C>T (p.Thr178Met)	REN (T178M)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +2 more	GUncertain significance
Select item 294959	NM_000537.4(REN):c.492+3A>G	REN	Single nucleotide variant (intron variant)	Kidney disorder +4 more	GBenign/Likely benign
Select item 294963	NM_000537.4(REN):c.267G>T (p.Glu89Asp)	REN (E89D)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis of genetic origin +5 more	GUncertain significance
Select item 1639919	NM_000537.4(REN):c.249+18C>T	REN	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1304113	NM_000537.4(REN):c.230T>G (p.Ile77Ser)	REN (I77S)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GUncertain significance
Select item 13123	NM_000537.4(REN):c.145C>T (p.Arg49Ter)	REN (R49*)	Single nucleotide variant (nonsense)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GPathogenic
Select item 50210	NM_000537.4(REN):c.127C>T (p.Arg43Ter)	REN (R43*)	Single nucleotide variant (nonsense)	Renal tubular dysgenesis of genetic origin +1 more	GPathogenic
Select item 13125	NM_000537.4(REN):c.36GCT[3] (p.Leu16del)	LOC107548112, REN (L16del)	Microsatellite (inframe_deletion)	Renal tubular dysgenesis of genetic origin +2 more	GPathogenic/Likely pathogenic