ClinVar for MedGen (Select 414347) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236115	NM_000537.4(REN):c.1085G>A (p.Cys362Tyr)	REN (C362Y)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	GUncertain significance
Select item 3066103	NM_000537.4(REN):c.35T>G (p.Leu12Arg)	LOC107548112, REN (L12R)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	GUncertain significance
Select item 2626755	NM_000537.4(REN):c.1184G>A (p.Arg395Gln)	REN (R395Q)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	GUncertain significance
Select item 2503476	NM_000537.4(REN):c.99-3C>T	LOC107548112, REN	Single nucleotide variant (intron variant)	Familial juvenile hyperuricemic nephropathy type 2	GLikely benign
Select item 2415388	NM_000537.4(REN):c.1160G>A (p.Arg387Gln)	REN (R387Q)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GUncertain significance
Select item 1639919	NM_000537.4(REN):c.249+18C>T	REN	Single nucleotide variant (intron variant)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GLikely benign
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 1413950	NM_000537.4(REN):c.533C>T (p.Thr178Met)	REN (T178M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339184	NM_000537.4(REN):c.1186C>T (p.Arg396Cys)	REN (R396C)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	GUncertain significance
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 1268413	NM_000537.4(REN):c.373+44C>G	REN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 974505	NM_000537.4(REN):c.58T>C (p.Cys20Arg)	LOC107548112, REN (C20R)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GPathogenic/Likely pathogenic
Select item 876616	NM_000537.4(REN):c.1032G>A (p.Thr344=)	REN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 876615	NM_000537.4(REN):c.1118C>T (p.Pro373Leu)	REN (P373L)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GConflicting classifications of pathogenicity
Select item 875663	NM_000537.4(REN):c.661G>A (p.Glu221Lys)	REN (E221K)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GUncertain significance
Select item 874782	NM_000537.4(REN):c.-26A>G	LOC107548112, REN	Single nucleotide variant (5 prime UTR variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GUncertain significance
Select item 874781	NM_000537.4(REN):c.45G>A (p.Leu15=)	LOC107548112, REN	Single nucleotide variant (synonymous variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GConflicting classifications of pathogenicity
Select item 874723	NM_000537.4(REN):c.718G>A (p.Gly240Arg)	REN (G240R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 873820	NM_000537.4(REN):c.97C>T (p.Arg33Trp)	LOC107548112, REN (R33W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 873819	NM_000537.4(REN):c.317G>C (p.Gly106Ala)	REN (G106A)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GUncertain significance
Select item 873769	NM_000537.4(REN):c.832T>C (p.Ser278Pro)	REN (S278P)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GUncertain significance
Select item 873768	NM_000537.4(REN):c.871G>A (p.Val291Ile)	REN (V291I)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GUncertain significance
Select item 753683	NM_000537.4(REN):c.961-5C>A	REN	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 438681	NM_000537.4(REN):c.47T>A (p.Leu16His)	LOC107548112, REN (L16H)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	GLikely pathogenic
Select item 294965	NM_000537.4(REN):c.9A>T (p.Gly3=)	LOC107548112, REN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 294964	NM_000537.4(REN):c.22C>G (p.Pro8Ala)	LOC107548112, REN (P8A)	Single nucleotide variant (missense variant)	not provided +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 +4 more	GUncertain significance
Select item 294962	NM_000537.4(REN):c.374-13G>A	REN	Single nucleotide variant (intron variant)	Familial juvenile hyperuricemic nephropathy type 2 +1 more	GConflicting classifications of pathogenicity
Select item 294961	NM_000537.4(REN):c.390C>T (p.Phe130=)	REN	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 294960	NM_000537.4(REN):c.398C>T (p.Ser133Leu)	REN (S133L)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 294959	NM_000537.4(REN):c.492+3A>G	REN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 294958	NM_000537.4(REN):c.492+12C>T	REN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294957	NM_000537.4(REN):c.630C>T (p.Phe210=)	REN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294956	NM_000537.4(REN):c.649G>A (p.Gly217Arg)	REN (G217R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 294955	NM_000537.4(REN):c.663G>A (p.Glu221=)	REN	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 294954	NM_000537.4(REN):c.744C>A (p.Asp248Glu)	REN (D248E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294953	NM_000537.4(REN):c.817G>C (p.Gly273Arg)	REN (G273R)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GUncertain significance
Select item 294952	NM_000537.4(REN):c.855C>T (p.Asp285=)	REN	Single nucleotide variant (synonymous variant)	Renal tubular dysgenesis +1 more	GConflicting classifications of pathogenicity
Select item 294951	NM_000537.4(REN):c.961-12C>A	REN	Single nucleotide variant (intron variant)	Renal tubular dysgenesis +1 more	GUncertain significance
Select item 294950	NM_000537.4(REN):c.1076A>T (p.Lys359Ile)	REN (K359I)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 256380	NM_000537.4(REN):c.492+17T>G	REN	Single nucleotide variant (intron variant)	Familial juvenile hyperuricemic nephropathy type 2 +4 more	GBenign
Select item 256379	NM_000537.4(REN):c.204A>C (p.Thr68=)	REN	Single nucleotide variant (synonymous variant)	Familial juvenile hyperuricemic nephropathy type 2 +3 more	GBenign
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 13126	NM_000537.4(REN):c.47T>G (p.Leu16Arg)	LOC107548112, REN (L16R)	Single nucleotide variant (missense variant)	Familial juvenile hyperuricemic nephropathy type 2	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
Select item 13123	NM_000537.4(REN):c.145C>T (p.Arg49Ter)	REN (R49*)	Single nucleotide variant (nonsense)	Familial juvenile hyperuricemic nephropathy type 2 +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 46