ClinVar for Gene (Select 5169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062941	GRCh37/hg19 6q23.1-23.2(chr6:130983223-132108647)x3	AKAP7, ARG1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2684455	GRCh37/hg19 6q23.2(chr6:131624205-132219490)x3	ARG1, CTAGE9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2618250	NM_005021.5(ENPP3):c.782A>G (p.Tyr261Cys)	ENPP3 (Y261C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612461	NM_001145659.1(CTAGE9):c.2243C>T (p.Ala748Val)	CTAGE9, ENPP3 (A748V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609487	NM_005021.5(ENPP3):c.1945C>G (p.Pro649Ala)	ENPP3 (P649A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603623	NM_005021.5(ENPP3):c.1034T>C (p.Val345Ala)	ENPP3 (V345A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603416	NM_005021.5(ENPP3):c.949T>C (p.Tyr317His)	ENPP3 (Y317H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2566823	NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys)	ENPP3, OR2A4 (E195K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557421	NM_005021.5(ENPP3):c.460G>A (p.Glu154Lys)	ENPP3 (E154K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557243	NM_001145659.1(CTAGE9):c.894C>G (p.Asn298Lys)	CTAGE9, ENPP3 (N298K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556154	NM_005021.5(ENPP3):c.1124T>C (p.Met375Thr)	ENPP3 (M375T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553143	NM_001145659.1(CTAGE9):c.98A>C (p.Asp33Ala)	CTAGE9, ENPP3 (D33A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553142	NM_001145659.1(CTAGE9):c.142G>C (p.Ala48Pro)	CTAGE9, ENPP3 (A48P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539904	NM_005021.5(ENPP3):c.1442G>A (p.Gly481Asp)	ENPP3 (G481D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531966	NM_005021.5(ENPP3):c.2304T>A (p.His768Gln)	ENPP3 (H768Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528237	NM_001145659.1(CTAGE9):c.929C>T (p.Pro310Leu)	CTAGE9, ENPP3 (P310L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520398	NM_001145659.1(CTAGE9):c.1762C>T (p.His588Tyr)	CTAGE9, ENPP3 (H588Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513310	NM_001145659.1(CTAGE9):c.1561T>C (p.Cys521Arg)	CTAGE9, ENPP3 (C521R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511534	NM_005021.5(ENPP3):c.1220G>A (p.Arg407Gln)	ENPP3 (R407Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496504	NM_001145659.1(CTAGE9):c.2240A>C (p.His747Pro)	CTAGE9, ENPP3 (H747P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495459	NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr)	ENPP3, OR2A4 (S92T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493650	NM_005021.5(ENPP3):c.1058T>C (p.Met353Thr)	ENPP3 (M353T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485082	NM_005021.5(ENPP3):c.1328A>G (p.Asp443Gly)	ENPP3 (D443G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485009	NM_005021.5(ENPP3):c.1679C>T (p.Ser560Phe)	ENPP3 (S560F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481692	NM_005021.5(ENPP3):c.2560A>G (p.Lys854Glu)	ENPP3 (K854E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477266	NM_001145659.1(CTAGE9):c.757G>A (p.Val253Ile)	ENPP3, CTAGE9 (V253I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472021	NM_001145659.1(CTAGE9):c.1417G>A (p.Glu473Lys)	CTAGE9, ENPP3 (E473K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463633	NM_001145659.1(CTAGE9):c.149T>C (p.Ile50Thr)	CTAGE9, ENPP3 (I50T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459640	NM_005021.5(ENPP3):c.1175G>A (p.Arg392Lys)	ENPP3 (R392K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454803	NM_005021.5(ENPP3):c.436A>T (p.Thr146Ser)	ENPP3 (T146S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408796	NM_001145659.1(CTAGE9):c.1213G>A (p.Glu405Lys)	CTAGE9, ENPP3 (E405K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402233	NM_001145659.1(CTAGE9):c.86G>C (p.Ser29Thr)	ENPP3, CTAGE9 (S29T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400208	NM_001145659.1(CTAGE9):c.1583G>A (p.Arg528Gln)	ENPP3, CTAGE9 (R528Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396327	NM_001145659.1(CTAGE9):c.2294T>C (p.Leu765Pro)	CTAGE9, ENPP3 (L765P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387463	NM_001145659.1(CTAGE9):c.1722T>G (p.Asn574Lys)	CTAGE9, ENPP3 (N574K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387109	NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly)	OR2A4, ENPP3 (E268G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385165	NM_005021.5(ENPP3):c.1576C>T (p.Arg526Cys)	ENPP3 (R526C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379982	NM_001145659.1(CTAGE9):c.337G>C (p.Glu113Gln)	CTAGE9, ENPP3 (E113Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378631	NM_005021.5(ENPP3):c.653C>T (p.Pro218Leu)	ENPP3 (P218L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376761	NM_001145659.1(CTAGE9):c.754A>G (p.Lys252Glu)	ENPP3, CTAGE9 (K252E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373702	NM_001145659.1(CTAGE9):c.58G>T (p.Gly20Cys)	CTAGE9, ENPP3 (G20C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369319	NM_005021.5(ENPP3):c.1964C>T (p.Ser655Leu)	ENPP3 (S655L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367318	NM_001145659.1(CTAGE9):c.937G>A (p.Gly313Arg)	CTAGE9, ENPP3 (G313R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364576	NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile)	ENPP3, OR2A4 (T6I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363712	NM_001145659.1(CTAGE9):c.1946C>A (p.Ser649Tyr)	ENPP3, CTAGE9 (S649Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358673	NM_005021.5(ENPP3):c.1205C>T (p.Pro402Leu)	ENPP3 (P402L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356830	NM_001145659.1(CTAGE9):c.1082C>T (p.Thr361Ile)	ENPP3, CTAGE9 (T361I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356087	NM_001145659.1(CTAGE9):c.340G>T (p.Asp114Tyr)	ENPP3, CTAGE9 (D114Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345520	NM_001145659.1(CTAGE9):c.1582C>T (p.Arg528Trp)	ENPP3, CTAGE9 (R528W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344918	NM_001145659.1(CTAGE9):c.2218A>G (p.Arg740Gly)	ENPP3, CTAGE9 (R740G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344609	NM_030908.2(OR2A4):c.748G>T (p.Val250Phe)	ENPP3, OR2A4 (V250F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344369	NM_001145659.1(CTAGE9):c.2101A>G (p.Ile701Val)	CTAGE9, ENPP3 (I701V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342975	NM_001145659.1(CTAGE9):c.860C>A (p.Thr287Lys)	ENPP3, CTAGE9 (T287K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342848	NM_001145659.1(CTAGE9):c.1688G>T (p.Ser563Ile)	ENPP3, CTAGE9 (S563I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342313	NM_001145659.1(CTAGE9):c.1226G>A (p.Arg409Gln)	CTAGE9, ENPP3 (R409Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335950	NM_001145659.1(CTAGE9):c.1625T>G (p.Leu542Trp)	CTAGE9, ENPP3 (L542W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334882	NM_001145659.1(CTAGE9):c.563T>C (p.Ile188Thr)	CTAGE9, ENPP3 (I188T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332297	NM_001145659.1(CTAGE9):c.365C>T (p.Ala122Val)	CTAGE9, ENPP3 (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325520	NM_005021.5(ENPP3):c.67A>G (p.Ile23Val)	ENPP3 (I23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325130	NM_005021.5(ENPP3):c.2370G>T (p.Lys790Asn)	ENPP3 (K790N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319313	NM_005021.5(ENPP3):c.470A>T (p.Asp157Val)	ENPP3 (D157V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316669	NM_001145659.1(CTAGE9):c.2256G>A (p.Met752Ile)	CTAGE9, ENPP3 (M752I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313879	NM_001145659.1(CTAGE9):c.863C>A (p.Thr288Lys)	ENPP3, CTAGE9 (T288K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307122	NM_005021.5(ENPP3):c.2150T>C (p.Met717Thr)	ENPP3 (M717T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305976	NM_005021.5(ENPP3):c.1975C>T (p.Pro659Ser)	ENPP3 (P659S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296635	NM_001145659.1(CTAGE9):c.601A>G (p.Ser201Gly)	CTAGE9, ENPP3 (S201G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296451	NM_030908.2(OR2A4):c.553A>G (p.Lys185Glu)	OR2A4, ENPP3 (K185E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294935	NM_005021.5(ENPP3):c.104T>C (p.Met35Thr)	ENPP3 (M35T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286748	NM_005021.5(ENPP3):c.185C>T (p.Ser62Leu)	ENPP3 (S62L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283357	NM_030908.2(OR2A4):c.163C>T (p.His55Tyr)	ENPP3, OR2A4 (H55Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282580	NM_030908.2(OR2A4):c.254T>G (p.Leu85Arg)	ENPP3, OR2A4 (L85R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274853	NM_030908.2(OR2A4):c.705A>T (p.Lys235Asn)	ENPP3, OR2A4 (K235N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272957	NM_005021.5(ENPP3):c.753T>G (p.His251Gln)	ENPP3 (H251Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2271343	NM_001145659.1(CTAGE9):c.1482G>C (p.Glu494Asp)	CTAGE9, ENPP3 (E494D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270513	NM_001145659.1(CTAGE9):c.10C>G (p.Pro4Ala)	ENPP3, CTAGE9 (P4A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267560	NM_001145659.1(CTAGE9):c.448G>C (p.Glu150Gln)	CTAGE9, ENPP3 (E150Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267338	NM_001145659.1(CTAGE9):c.551T>G (p.Leu184Arg)	CTAGE9, ENPP3 (L184R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262293	NM_001145659.1(CTAGE9):c.2110C>A (p.Pro704Thr)	ENPP3, CTAGE9 (P704T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261156	NM_005021.5(ENPP3):c.1277A>T (p.Asn426Ile)	ENPP3 (N426I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260898	NM_005021.5(ENPP3):c.600G>A (p.Met200Ile)	ENPP3 (M200I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259356	NM_001145659.1(CTAGE9):c.623C>T (p.Ala208Val)	CTAGE9, ENPP3 (A208V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253834	NM_001145659.1(CTAGE9):c.1489T>C (p.Phe497Leu)	CTAGE9, ENPP3 (F497L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239724	NM_005021.5(ENPP3):c.1991G>A (p.Cys664Tyr)	ENPP3 (C664Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237381	NM_001145659.1(CTAGE9):c.1165G>C (p.Glu389Gln)	CTAGE9, ENPP3 (E389Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231890	NM_005021.5(ENPP3):c.2443G>A (p.Val815Met)	ENPP3 (V815M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224603	NM_001145659.1(CTAGE9):c.1409G>A (p.Arg470Gln)	ENPP3, CTAGE9 (R470Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215216	NM_005021.5(ENPP3):c.2278G>C (p.Asp760His)	ENPP3 (D760H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213481	NM_005021.5(ENPP3):c.1213C>T (p.Arg405Cys)	ENPP3 (R405C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210580	NM_005021.5(ENPP3):c.753T>A (p.His251Gln)	ENPP3 (H251Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2208522	NM_005021.5(ENPP3):c.1198G>A (p.Glu400Lys)	ENPP3 (E400K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203871	NM_005021.5(ENPP3):c.2293A>G (p.Ile765Val)	ENPP3 (I765V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1699970	NC_000006.12:g.131688637_132215008del	CCN2, CCN2-AS1 +14 more	Deletion	Arterial calcification, generalized, of infancy, 1	GPathogenic
Select item 1527291	GRCh37/hg19 6q23.2(chr6:131624204-132219490)	ARG1, CTAGE9 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1341089	GRCh37/hg19 6q23.2(chr6:131958038-132444269)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 998813	NC_000006.11:g.(?_131894423)_(132211651_?)dup	OR2A4, ARG1 +4 more	Duplication	Arginase deficiency	GUncertain significance

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