ClinVar for Gene (Select 83592) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342397	NM_001040177.3(AKR1E2):c.329C>G (p.Pro110Arg)	AKR1E2 (P110R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3282803	NM_001040177.3(AKR1E2):c.953T>C (p.Ile318Thr)	AKR1E2 (I220T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282793	NM_001040177.3(AKR1E2):c.725C>T (p.Ala242Val)	AKR1E2 (A242V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282782	NM_001040177.3(AKR1E2):c.865G>C (p.Asp289His)	AKR1E2 (D191H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282772	NM_001040177.3(AKR1E2):c.296A>G (p.Tyr99Cys)	AKR1E2 (Y99C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282766	NM_001040177.3(AKR1E2):c.649G>A (p.Val217Met)	AKR1E2 (V217M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282757	NM_001040177.3(AKR1E2):c.172G>A (p.Ala58Thr)	AKR1E2 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3108031	NM_001040177.3(AKR1E2):c.865G>A (p.Asp289Asn)	AKR1E2 (D191N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108027	NM_001040177.3(AKR1E2):c.809C>T (p.Thr270Ile)	AKR1E2 (T213I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108024	NM_001040177.3(AKR1E2):c.797C>G (p.Pro266Arg)	AKR1E2 (P168R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108015	NM_001040177.3(AKR1E2):c.686G>A (p.Gly229Glu)	AKR1E2 (G229E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107983	NM_001040177.3(AKR1E2):c.361C>T (p.Leu121Phe)	AKR1E2 (L121F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107982	NM_001040177.3(AKR1E2):c.34T>A (p.Trp12Arg)	AKR1E2 (W12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065373	NM_001040177.3(AKR1E2):c.582+1G>A	AKR1E2	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2603129	NM_001040177.3(AKR1E2):c.599A>G (p.Tyr200Cys)	AKR1E2 (Y200C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602692	NM_001040177.3(AKR1E2):c.914T>C (p.Phe305Ser)	AKR1E2 (F305S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563767	NM_001040177.3(AKR1E2):c.742T>G (p.Ser248Ala)	AKR1E2 (S248A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552589	NM_001040177.3(AKR1E2):c.182G>A (p.Arg61Gln)	AKR1E2 (R61Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541125	NM_001040177.3(AKR1E2):c.644T>G (p.Val215Gly)	AKR1E2 (V215G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481532	NM_001040177.3(AKR1E2):c.456G>C (p.Trp152Cys)	AKR1E2 (W152C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383757	NM_001040177.3(AKR1E2):c.521A>G (p.His174Arg)	AKR1E2 (H174R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362763	NM_001040177.3(AKR1E2):c.671G>A (p.Gly224Asp)	AKR1E2 (G224D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2335963	NM_001040177.3(AKR1E2):c.94C>T (p.Arg32Trp)	AKR1E2 (R32W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328444	NM_001040177.3(AKR1E2):c.706C>T (p.Pro236Ser)	AKR1E2 (P236S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287532	NM_001040177.3(AKR1E2):c.518A>G (p.Asn173Ser)	AKR1E2 (N173S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2277549	NM_001040177.3(AKR1E2):c.365C>T (p.Ser122Phe)	AKR1E2 (S122F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244827	NM_001040177.3(AKR1E2):c.545A>G (p.Asn182Ser)	AKR1E2 (N182S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243371	NM_001040177.3(AKR1E2):c.764G>C (p.Arg255Pro)	AKR1E2 (R157P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239585	NM_001040177.3(AKR1E2):c.89G>T (p.Gly30Val)	AKR1E2 (G30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217340	NM_001040177.3(AKR1E2):c.919A>G (p.Ile307Val)	AKR1E2 (I209V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209483	NM_001040177.3(AKR1E2):c.743C>A (p.Ser248Tyr)	AKR1E2 (S248Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808010	GRCh37/hg19 10p15.1(chr10:4558510-5203154)x4	AKR1C1, AKR1C2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1693334	NM_001040177.3(AKR1E2):c.154T>G (p.Cys52Gly)	AKR1E2 (C52G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1318312	NC_000010.11:g.4825928del	AKR1E2	Deletion	not provided	GLikely benign
Select item 1317989	NM_001040177.3(AKR1E2):c.325-50T>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317923	NM_001040177.3(AKR1E2):c.39+268T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317693	NM_001040177.3(AKR1E2):c.324+216G>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317451	NM_001040177.3(AKR1E2):c.325-33_325-31del	AKR1E2	Deletion (intron variant)	not provided	GLikely benign
Select item 1317204	NM_001040177.3(AKR1E2):c.460-83A>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316792	NM_001040177.3(AKR1E2):c.325-48G>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316791	NM_001040177.3(AKR1E2):c.39+315T>C	AKR1E2, LOC130003192	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316596	NC_000010.11:g.4826082G>C	AKR1E2	Single nucleotide variant	not provided	GLikely benign
Select item 1316229	NM_001040177.3(AKR1E2):c.837+114C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302864	NM_001040177.3(AKR1E2):c.40-207del	AKR1E2	Deletion (intron variant)	not provided	GBenign
Select item 1296596	NM_001040177.3(AKR1E2):c.208-142C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296595	NM_001040177.3(AKR1E2):c.257A>G (p.Lys86Arg)	AKR1E2 (K86R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1294130	NM_001040177.3(AKR1E2):c.754-166G>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290831	NM_001040177.3(AKR1E2):c.208-266C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290221	NM_001040177.3(AKR1E2):c.*10C>T	AKR1E2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289818	NM_001040177.3(AKR1E2):c.459+80G>A	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289810	NM_001040177.3(AKR1E2):c.*8T>A	AKR1E2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1289120	NM_001040177.3(AKR1E2):c.753+27A>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287500	NM_001040177.3(AKR1E2):c.459+314C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286701	NM_001040177.3(AKR1E2):c.582+142T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282540	NM_001040177.3(AKR1E2):c.459+131A>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280183	NM_001040177.3(AKR1E2):c.753+162C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279953	NM_001040177.3(AKR1E2):c.40-180T>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276901	NM_001040177.3(AKR1E2):c.459+203T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275928	NM_001040177.3(AKR1E2):c.460-238T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275567	NM_001040177.3(AKR1E2):c.582+304T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273761	NM_001040177.3(AKR1E2):c.837+267T>A	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272861	NM_001040177.3(AKR1E2):c.*252G>A	AKR1E2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1272641	NM_001040177.3(AKR1E2):c.460-186T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271836	NM_001040177.3(AKR1E2):c.40-98T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270045	NM_001040177.3(AKR1E2):c.324+265A>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269322	NC_000010.11:g.4825966T>G	AKR1E2	Single nucleotide variant	not provided	GBenign
Select item 1268877	NM_001040177.3(AKR1E2):c.583-54C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267739	NM_001040177.3(AKR1E2):c.681-241A>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265879	NM_001040177.3(AKR1E2):c.753+195C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265644	NM_001040177.3(AKR1E2):c.583-98C>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264863	NM_001040177.3(AKR1E2):c.597A>G (p.Pro199=)	AKR1E2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1263889	NM_001040177.3(AKR1E2):c.920+103T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261762	NM_001040177.3(AKR1E2):c.*48T>C	AKR1E2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1261486	NM_001040177.3(AKR1E2):c.837+104A>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260543	NM_001040177.3(AKR1E2):c.207+72T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258361	NM_001040177.3(AKR1E2):c.40-250C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256942	NM_001040177.3(AKR1E2):c.459+146C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256920	NM_001040177.3(AKR1E2):c.680+77C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256883	NM_001040177.3(AKR1E2):c.208-87C>T	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254247	NM_001040177.3(AKR1E2):c.921-40T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253619	NM_001040177.3(AKR1E2):c.84C>T (p.Asp28=)	AKR1E2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1253045	NM_001040177.3(AKR1E2):c.583-274_583-271del	AKR1E2	Deletion (intron variant)	not provided	GBenign
Select item 1252497	NM_001040177.3(AKR1E2):c.460-279C>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251366	NM_001040177.3(AKR1E2):c.459+318T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251268	NC_000010.11:g.4825927G>T	AKR1E2	Single nucleotide variant	not provided	GBenign
Select item 1250807	NM_001040177.3(AKR1E2):c.557T>G (p.Leu186Trp)	AKR1E2 (L186W)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1250711	NM_001040177.3(AKR1E2):c.837+151dup	AKR1E2	Duplication (intron variant)	not provided	GBenign
Select item 1249506	NM_001040177.3(AKR1E2):c.681-252T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248874	NM_001040177.3(AKR1E2):c.459+274T>G	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248433	NM_001040177.3(AKR1E2):c.837+88T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246064	NM_001040177.3(AKR1E2):c.39+10T>C	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245332	NM_001040177.3(AKR1E2):c.40-294G>A	AKR1E2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244749	NM_001040177.3(AKR1E2):c.*84C>T	AKR1E2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1243884	NM_001040177.3(AKR1E2):c.4_5insA	AKR1E2	Insertion (3 prime UTR variant +1 more)	not provided	GBenign

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