ClinVar for Gene (Select 5972) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3152977	NM_000537.4(REN):c.178T>G (p.Trp60Gly)	REN (W60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3057778	NM_000537.4(REN):c.250-5dup	REN	Duplication (intron variant)	REN-related condition	GLikely benign
Select item 3031540	NM_000537.4(REN):c.111G>A (p.Lys37=)	REN	Single nucleotide variant (synonymous variant)	REN-related condition	GLikely benign
Select item 3021976	NM_000537.4(REN):c.1116G>A (p.Pro372=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002091	NM_000537.4(REN):c.492+17T>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely 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 2999125	NM_000537.4(REN):c.406T>C (p.Ser136Pro)	REN (S136P)	Single nucleotide variant (missense variant)	not provided	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 2996527	NM_000537.4(REN):c.1176G>A (p.Glu392=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994181	NM_000537.4(REN):c.1059+17C>G	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983190	NM_000537.4(REN):c.373+14C>T	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977119	NM_000537.4(REN):c.17G>A (p.Arg6Lys)	LOC107548112, REN (R6K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2968026	NM_000537.4(REN):c.966C>T (p.Val322=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958733	NM_000537.4(REN):c.819-45TCTG[12]	REN	Microsatellite (intron variant)	not provided	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 2899513	NM_000537.4(REN):c.507G>A (p.Thr169=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2853011	NM_000537.4(REN):c.18G>A (p.Arg6=)	LOC107548112, REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851417	NM_000537.4(REN):c.374-3C>T	REN	Single nucleotide variant (intron variant)	not provided	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 2838047	NM_000537.4(REN):c.961-6C>A	REN	Single nucleotide variant (intron variant)	not provided	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 2745690	NM_000537.4(REN):c.468C>T (p.Gly156=)	REN	Single nucleotide variant (synonymous 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 2741004	NM_000537.4(REN):c.518T>C (p.Met173Thr)	REN (M173T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734069	NM_000537.4(REN):c.241_243dup (p.Tyr81_Met82insTyr)	REN	Duplication (inframe_insertion)	not provided +1 more	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 2719337	NM_000537.4(REN):c.788A>G (p.Lys263Arg)	REN (K263R)	Single nucleotide variant (missense variant)	not provided	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 2713999	NM_000537.4(REN):c.8G>A (p.Gly3Glu)	LOC107548112, REN (G3E)	Single nucleotide variant (missense variant)	not provided	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 2559110	NM_000537.4(REN):c.1151C>A (p.Thr384Asn)	REN (T384N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2487228	NM_000537.4(REN):c.391G>A (p.Asp131Asn)	REN (D131N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2423261	NC_000001.10:g.(?_204130400)_(204135421_?)del	REN	Deletion	not provided	GPathogenic
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	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 2415388	NM_000537.4(REN):c.1160G>A (p.Arg387Gln)	REN (R387Q)	Single nucleotide variant (missense variant)	not provided +2 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 2358379	NM_000537.4(REN):c.322T>G (p.Ser108Ala)	REN (S108A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2235464	NM_000537.4(REN):c.914T>C (p.Ile305Thr)	REN (I305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2214324	NM_000537.4(REN):c.479A>G (p.Gln160Arg)	REN (Q160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2202922	NM_000537.4(REN):c.98G>A (p.Arg33Gln)	LOC107548112, REN (R33Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198216	NM_000537.4(REN):c.1031C>T (p.Thr344Met)	REN (T344M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2195508	NM_000537.4(REN):c.257A>G (p.Tyr86Cys)	REN (Y86C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183357	NM_000537.4(REN):c.422A>G (p.Asn141Ser)	REN (N141S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182043	NM_000537.4(REN):c.264C>G (p.Gly88=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181337	NM_000537.4(REN):c.711G>A (p.Ser237=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175193	NM_000537.4(REN):c.276C>T (p.Ile92=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155228	NM_000537.4(REN):c.251C>A (p.Thr84Asn)	REN (T84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142224	NM_000537.4(REN):c.25C>T (p.Arg9Cys)	LOC107548112, REN (R9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137185	NM_000537.4(REN):c.1101C>T (p.His367=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131200	NM_000537.4(REN):c.249+1G>T	REN	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2108521	NM_000537.4(REN):c.98+17G>A	LOC107548112, REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108031	NM_000537.4(REN):c.8G>T (p.Gly3Val)	LOC107548112, REN (G3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098110	NM_000537.4(REN):c.77C>T (p.Thr26Ile)	LOC107548112, REN (T26I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2087829	NM_000537.4(REN):c.70C>T (p.Leu24Phe)	LOC107548112, REN (L24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081850	NM_000537.4(REN):c.819-10C>A	REN	Single nucleotide variant (intron variant)	REN-related condition +1 more	GBenign/Likely benign
Select item 2079629	NM_000537.4(REN):c.29G>A (p.Trp10Ter)	REN, LOC107548112 (W10*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2076010	NM_000537.4(REN):c.961-8C>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066164	NM_000537.4(REN):c.1009C>T (p.His337Tyr)	REN (H337Y)	Single nucleotide variant (missense variant)	REN-related condition +1 more	GBenign/Likely benign
Select item 2032054	NM_000537.4(REN):c.250-19T>C	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987903	NM_000537.4(REN):c.26G>A (p.Arg9His)	LOC107548112, REN (R9H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981849	NM_000537.4(REN):c.262G>A (p.Gly88Ser)	REN (G88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981484	NM_000537.4(REN):c.355C>T (p.Arg119Cys)	REN (R119C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1970371	NM_000537.4(REN):c.157A>G (p.Met53Val)	REN (M53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966354	NM_000537.4(REN):c.463A>G (p.Ser155Gly)	REN (S155G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963968	NM_000537.4(REN):c.95A>C (p.Lys32Thr)	LOC107548112, REN (K32T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951188	NM_000537.4(REN):c.265G>A (p.Glu89Lys)	REN (E89K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1941194	NM_000537.4(REN):c.165G>T (p.Arg55Ser)	REN (R55S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939832	NM_000537.4(REN):c.356G>A (p.Arg119His)	REN (R119H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1933445	NM_000537.4(REN):c.699-12T>A	REN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912291	NM_000537.4(REN):c.543C>T (p.Pro181=)	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 1904098	NM_000537.4(REN):c.442C>T (p.Arg148Cys)	REN (R148C)	Single nucleotide variant (missense 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 1899361	NM_000537.4(REN):c.819-45TCTG[5]	REN	Microsatellite (intron variant)	not provided	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 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1715948	NM_000537.4(REN):c.452C>A (p.Thr151Lys)	REN (T151K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715610	NM_000537.4(REN):c.236C>T (p.Thr79Ile)	REN (T79I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1712374	NM_000537.4(REN):c.492+6T>C	REN	Single nucleotide variant (intron variant)	Kidney disorder	GUncertain significance
Select item 1712359	NM_000537.4(REN):c.443G>A (p.Arg148His)	REN (R148H)	Single nucleotide variant (missense variant)	Kidney disorder +1 more	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
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 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 1583166	NM_000537.4(REN):c.225C>T (p.Ser75=)	REN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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

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