REN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 1049731	NM_000537.4(REN):c.1220G>T (p.Ter407Leu)	REN	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1343309	NM_000537.4(REN):c.1216C>T (p.Arg406Cys)	REN (R406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503882	NM_000537.4(REN):c.1196G>A (p.Arg399His)	REN (R399H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2393474	NM_000537.4(REN):c.1187G>A (p.Arg396His)	REN (R396H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 3152976	NM_000537.4(REN):c.1183C>T (p.Arg395Trp)	REN (R395W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741958	NM_000537.4(REN):c.1183C>A (p.Arg395=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996527	NM_000537.4(REN):c.1176G>A (p.Glu392=)	REN	Single nucleotide variant (synonymous variant)	not provided	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 13122	NM_000537.4(REN):c.1159C>T (p.Arg387Ter)	REN (R387*)	Single nucleotide variant (nonsense)	Hyperproreninemia, familial	GPathogenic
Select item 2559110	NM_000537.4(REN):c.1151C>A (p.Thr384Asn)	REN (T384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313608	NM_000537.4(REN):c.1130C>T (p.Pro377Leu)	REN (P377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3021976	NM_000537.4(REN):c.1116G>A (p.Pro372=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137185	NM_000537.4(REN):c.1101C>T (p.His367=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1177782	NM_000537.4(REN):c.1060-66del	REN	Deletion (intron variant)	not provided	GBenign
Select item 1281982	NM_000537.4(REN):c.1060-240T>C	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239591	NM_000537.4(REN):c.1059+83G>A	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994181	NM_000537.4(REN):c.1059+17C>G	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741109	NM_000537.4(REN):c.1059+10G>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3313607	NM_000537.4(REN):c.1054T>A (p.Phe352Ile)	REN (F352I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2198216	NM_000537.4(REN):c.1031C>T (p.Thr344Met)	REN (T344M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066164	NM_000537.4(REN):c.1009C>T (p.His337Tyr)	REN (H337Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 749289	NM_000537.4(REN):c.978C>T (p.Asn326=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729102	NM_000537.4(REN):c.969G>T (p.Val323=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968026	NM_000537.4(REN):c.966C>T (p.Val322=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2838047	NM_000537.4(REN):c.961-6C>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076010	NM_000537.4(REN):c.961-8C>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1236555	NM_000537.4(REN):c.961-43C>T	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180062	NM_000537.4(REN):c.960+34G>T	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 724332	NM_000537.4(REN):c.954G>A (p.Leu318=)	REN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2305219	NM_000537.4(REN):c.929A>G (p.Glu310Gly)	REN (E310G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897788	NM_000537.4(REN):c.928G>A (p.Glu310Lys)	REN (E310K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235464	NM_000537.4(REN):c.914T>C (p.Ile305Thr)	REN (I305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2728005	NM_000537.4(REN):c.887C>G (p.Ser296Cys)	REN (S296C)	Single nucleotide variant (missense variant)	not provided	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 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 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 2081850	NM_000537.4(REN):c.819-10C>A	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958733	NM_000537.4(REN):c.819-45TCTG[12]	REN	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1899561	NM_000537.4(REN):c.819-45TCTG[13]	REN	Microsatellite (intron variant)	not provided	GUncertain significance
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 1598809	NM_000537.4(REN):c.819-45TCTG[8]	REN	Microsatellite (intron variant)	not provided	GBenign
Select item 1284066	NM_000537.4(REN):c.819-45TCTG[10]	REN	Microsatellite (intron variant)	not provided	GBenign
Select item 1263110	NM_000537.4(REN):c.819-45TCTG[9]	REN	Microsatellite (intron variant)	not provided	GBenign
Select item 1899361	NM_000537.4(REN):c.819-45TCTG[5]	REN	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1288570	NM_000537.4(REN):c.819-45TCTG[6]	REN	Microsatellite (intron variant)	not provided	GBenign
Select item 1283380	NM_000537.4(REN):c.819-62A>C	REN	Single nucleotide variant (intron variant)	not provided	GBenign
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 747279	NM_000537.4(REN):c.810A>G (p.Gln270=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719337	NM_000537.4(REN):c.788A>G (p.Lys263Arg)	REN (K263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205975	NM_000537.4(REN):c.757G>A (p.Glu253Lys)	REN (E253K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3152979	NM_000537.4(REN):c.741C>A (p.Ser247Arg)	REN (S247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2998821	NM_000537.4(REN):c.736G>A (p.Gly246Ser)	REN (G246S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2181337	NM_000537.4(REN):c.711G>A (p.Ser237=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905938	NM_000537.4(REN):c.699-6C>T	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933445	NM_000537.4(REN):c.699-12T>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247423	NM_000537.4(REN):c.699-63A>G	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281962	NM_000537.4(REN):c.698+111C>T	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974171	NM_000537.4(REN):c.697G>A (p.Glu233Lys)	REN (E233K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295154	NM_000537.4(REN):c.689+254G>A	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3357270	NM_000537.4(REN):c.689+7A>G	REN	Single nucleotide variant (intron variant)	REN-related disorder	GLikely benign
Select item 2829164	NM_000537.4(REN):c.689+6G>A	REN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 13124	NM_000537.4(REN):c.689G>A (p.Arg230Lys)	REN (R230K)	Single nucleotide variant (missense variant)	Renal tubular dysgenesis	GPathogenic
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 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 2846619	NM_000537.4(REN):c.650G>A (p.Gly217Glu)	REN (G217E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2999371	NM_000537.4(REN):c.637A>G (p.Ile213Val)	REN (I213V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2216306	NM_000537.4(REN):c.631G>A (p.Asp211Asn)	REN (D211N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1712426	NM_000537.4(REN):c.614G>A (p.Arg205Lys)	REN (R205K)	Single nucleotide variant (missense variant)	Kidney disorder	GUncertain significance
Select item 2717933	NM_000537.4(REN):c.565G>A (p.Glu189Lys)	REN (E189K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912291	NM_000537.4(REN):c.543C>T (p.Pro181=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2903965	NM_000537.4(REN):c.524G>T (p.Gly175Val)	REN (G175V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741004	NM_000537.4(REN):c.518T>C (p.Met173Thr)	REN (M173T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899513	NM_000537.4(REN):c.507G>A (p.Thr169=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3313606	NM_000537.4(REN):c.506C>T (p.Thr169Met)	REN (T169M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2415429	NM_000537.4(REN):c.504C>A (p.Ile168=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1249555	NM_000537.4(REN):c.493-131A>C	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226180	NM_000537.4(REN):c.492+134A>G	REN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3002091	NM_000537.4(REN):c.492+17T>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1712374	NM_000537.4(REN):c.492+6T>C	REN	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
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 2887956	NM_000537.4(REN):c.492C>T (p.Thr164=)	REN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2214324	NM_000537.4(REN):c.479A>G (p.Gln160Arg)	REN (Q160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2745690	NM_000537.4(REN):c.468C>T (p.Gly156=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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