ClinVar for Gene (Select 5169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3242313	GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1	AKAP7, ARG1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 3205009	NM_030908.2(OR2A4):c.899T>C (p.Leu300Ser)	ENPP3, OR2A4 (L300S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205008	NM_030908.2(OR2A4):c.86T>C (p.Leu29Pro)	ENPP3, OR2A4 (L29P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205007	NM_030908.2(OR2A4):c.541T>G (p.Leu181Val)	ENPP3, OR2A4 (L181V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205006	NM_030908.2(OR2A4):c.52G>A (p.Val18Ile)	ENPP3, OR2A4 (V18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205005	NM_030908.2(OR2A4):c.281C>T (p.Ala94Val)	ENPP3, OR2A4 (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089005	NM_005021.5(ENPP3):c.662A>G (p.His221Arg)	ENPP3 (H221R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089003	NM_005021.5(ENPP3):c.560T>C (p.Leu187Pro)	ENPP3 (L187P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089002	NM_005021.5(ENPP3):c.343T>C (p.Cys115Arg)	ENPP3 (C115R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089001	NM_005021.5(ENPP3):c.26C>T (p.Thr9Met)	ENPP3 (T9M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3089000	NM_005021.5(ENPP3):c.2623A>T (p.Ile875Phe)	ENPP3 (I875F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088999	NM_005021.5(ENPP3):c.2512C>T (p.Arg838Trp)	ENPP3 (R838W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088997	NM_005021.5(ENPP3):c.2381C>T (p.Pro794Leu)	ENPP3 (P794L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088996	NM_005021.5(ENPP3):c.2149A>G (p.Met717Val)	ENPP3 (M717V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088994	NM_005021.5(ENPP3):c.1805C>A (p.Ala602Glu)	ENPP3 (A602E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088993	NM_005021.5(ENPP3):c.1472G>A (p.Ser491Asn)	ENPP3 (S491N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088992	NM_005021.5(ENPP3):c.1460A>T (p.Asn487Ile)	ENPP3 (N487I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088991	NM_005021.5(ENPP3):c.1427C>A (p.Thr476Lys)	ENPP3 (T476K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088990	NM_005021.5(ENPP3):c.1373A>C (p.Lys458Thr)	ENPP3 (K458T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088988	NM_005021.5(ENPP3):c.1265A>G (p.Glu422Gly)	ENPP3 (E422G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078544	NM_001145659.1(CTAGE9):c.455A>G (p.Asp152Gly)	CTAGE9, ENPP3 (D152G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078543	NM_001145659.1(CTAGE9):c.371A>C (p.Glu124Ala)	CTAGE9, ENPP3 (E124A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078542	NM_001145659.1(CTAGE9):c.308A>G (p.Tyr103Cys)	CTAGE9, ENPP3 (Y103C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078541	NM_001145659.1(CTAGE9):c.26A>G (p.Gln9Arg)	CTAGE9, ENPP3 (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078539	NM_001145659.1(CTAGE9):c.2231G>A (p.Gly744Asp)	CTAGE9, ENPP3 (G744D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078538	NM_001145659.1(CTAGE9):c.2152G>C (p.Gly718Arg)	CTAGE9, ENPP3 (G718R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078537	NM_001145659.1(CTAGE9):c.1983G>A (p.Met661Ile)	CTAGE9, ENPP3 (M661I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078536	NM_001145659.1(CTAGE9):c.1915C>T (p.Pro639Ser)	CTAGE9, ENPP3 (P639S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078535	NM_001145659.1(CTAGE9):c.1673G>A (p.Gly558Glu)	CTAGE9, ENPP3 (G558E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078534	NM_001145659.1(CTAGE9):c.1664G>T (p.Gly555Val)	CTAGE9, ENPP3 (G555V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078533	NM_001145659.1(CTAGE9):c.1652C>T (p.Pro551Leu)	CTAGE9, ENPP3 (P551L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078532	NM_001145659.1(CTAGE9):c.1585C>G (p.Pro529Ala)	CTAGE9, ENPP3 (P529A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078531	NM_001145659.1(CTAGE9):c.1544G>T (p.Gly515Val)	CTAGE9, ENPP3 (G515V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078530	NM_001145659.1(CTAGE9):c.1271G>C (p.Ser424Thr)	CTAGE9, ENPP3 (S424T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2612461	NM_001145659.1(CTAGE9):c.2243C>T (p.Ala748Val)	CTAGE9, ENPP3 (A748V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609487	NM_005021.5(ENPP3):c.1945C>G (p.Pro649Ala)	ENPP3 (P649A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603623	NM_005021.5(ENPP3):c.1034T>C (p.Val345Ala)	ENPP3 (V345A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603416	NM_005021.5(ENPP3):c.949T>C (p.Tyr317His)	ENPP3 (Y317H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566823	NM_030908.2(OR2A4):c.583G>A (p.Glu195Lys)	ENPP3, OR2A4 (E195K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557421	NM_005021.5(ENPP3):c.460G>A (p.Glu154Lys)	ENPP3 (E154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557243	NM_001145659.1(CTAGE9):c.894C>G (p.Asn298Lys)	CTAGE9, ENPP3 (N298K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556154	NM_005021.5(ENPP3):c.1124T>C (p.Met375Thr)	ENPP3 (M375T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553143	NM_001145659.1(CTAGE9):c.98A>C (p.Asp33Ala)	CTAGE9, ENPP3 (D33A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553142	NM_001145659.1(CTAGE9):c.142G>C (p.Ala48Pro)	CTAGE9, ENPP3 (A48P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539904	NM_005021.5(ENPP3):c.1442G>A (p.Gly481Asp)	ENPP3 (G481D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531966	NM_005021.5(ENPP3):c.2304T>A (p.His768Gln)	ENPP3 (H768Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528237	NM_001145659.1(CTAGE9):c.929C>T (p.Pro310Leu)	CTAGE9, ENPP3 (P310L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520398	NM_001145659.1(CTAGE9):c.1762C>T (p.His588Tyr)	CTAGE9, ENPP3 (H588Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513310	NM_001145659.1(CTAGE9):c.1561T>C (p.Cys521Arg)	CTAGE9, ENPP3 (C521R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511534	NM_005021.5(ENPP3):c.1220G>A (p.Arg407Gln)	ENPP3 (R407Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496504	NM_001145659.1(CTAGE9):c.2240A>C (p.His747Pro)	CTAGE9, ENPP3 (H747P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495459	NM_030908.2(OR2A4):c.274T>A (p.Ser92Thr)	ENPP3, OR2A4 (S92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493650	NM_005021.5(ENPP3):c.1058T>C (p.Met353Thr)	ENPP3 (M353T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485082	NM_005021.5(ENPP3):c.1328A>G (p.Asp443Gly)	ENPP3 (D443G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485009	NM_005021.5(ENPP3):c.1679C>T (p.Ser560Phe)	ENPP3 (S560F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481692	NM_005021.5(ENPP3):c.2560A>G (p.Lys854Glu)	ENPP3 (K854E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477266	NM_001145659.1(CTAGE9):c.757G>A (p.Val253Ile)	CTAGE9, ENPP3 (V253I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472021	NM_001145659.1(CTAGE9):c.1417G>A (p.Glu473Lys)	CTAGE9, ENPP3 (E473K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463633	NM_001145659.1(CTAGE9):c.149T>C (p.Ile50Thr)	CTAGE9, ENPP3 (I50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459640	NM_005021.5(ENPP3):c.1175G>A (p.Arg392Lys)	ENPP3 (R392K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454803	NM_005021.5(ENPP3):c.436A>T (p.Thr146Ser)	ENPP3 (T146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408796	NM_001145659.1(CTAGE9):c.1213G>A (p.Glu405Lys)	CTAGE9, ENPP3 (E405K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402233	NM_001145659.1(CTAGE9):c.86G>C (p.Ser29Thr)	CTAGE9, ENPP3 (S29T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400208	NM_001145659.1(CTAGE9):c.1583G>A (p.Arg528Gln)	CTAGE9, ENPP3 (R528Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396327	NM_001145659.1(CTAGE9):c.2294T>C (p.Leu765Pro)	CTAGE9, ENPP3 (L765P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387463	NM_001145659.1(CTAGE9):c.1722T>G (p.Asn574Lys)	CTAGE9, ENPP3 (N574K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387109	NM_030908.2(OR2A4):c.803A>G (p.Glu268Gly)	ENPP3, OR2A4 (E268G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385165	NM_005021.5(ENPP3):c.1576C>T (p.Arg526Cys)	ENPP3 (R526C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379982	NM_001145659.1(CTAGE9):c.337G>C (p.Glu113Gln)	CTAGE9, ENPP3 (E113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378631	NM_005021.5(ENPP3):c.653C>T (p.Pro218Leu)	ENPP3 (P218L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376761	NM_001145659.1(CTAGE9):c.754A>G (p.Lys252Glu)	CTAGE9, ENPP3 (K252E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373702	NM_001145659.1(CTAGE9):c.58G>T (p.Gly20Cys)	CTAGE9, ENPP3 (G20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369319	NM_005021.5(ENPP3):c.1964C>T (p.Ser655Leu)	ENPP3 (S655L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367318	NM_001145659.1(CTAGE9):c.937G>A (p.Gly313Arg)	CTAGE9, ENPP3 (G313R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364576	NM_030908.2(OR2A4):c.17C>T (p.Thr6Ile)	ENPP3, OR2A4 (T6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363712	NM_001145659.1(CTAGE9):c.1946C>A (p.Ser649Tyr)	CTAGE9, ENPP3 (S649Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358673	NM_005021.5(ENPP3):c.1205C>T (p.Pro402Leu)	ENPP3 (P402L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356830	NM_001145659.1(CTAGE9):c.1082C>T (p.Thr361Ile)	CTAGE9, ENPP3 (T361I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356087	NM_001145659.1(CTAGE9):c.340G>T (p.Asp114Tyr)	CTAGE9, ENPP3 (D114Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345520	NM_001145659.1(CTAGE9):c.1582C>T (p.Arg528Trp)	CTAGE9, ENPP3 (R528W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344918	NM_001145659.1(CTAGE9):c.2218A>G (p.Arg740Gly)	CTAGE9, ENPP3 (R740G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344609	NM_030908.2(OR2A4):c.748G>T (p.Val250Phe)	ENPP3, OR2A4 (V250F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344369	NM_001145659.1(CTAGE9):c.2101A>G (p.Ile701Val)	CTAGE9, ENPP3 (I701V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342975	NM_001145659.1(CTAGE9):c.860C>A (p.Thr287Lys)	CTAGE9, ENPP3 (T287K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342848	NM_001145659.1(CTAGE9):c.1688G>T (p.Ser563Ile)	CTAGE9, ENPP3 (S563I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342313	NM_001145659.1(CTAGE9):c.1226G>A (p.Arg409Gln)	CTAGE9, ENPP3 (R409Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335950	NM_001145659.1(CTAGE9):c.1625T>G (p.Leu542Trp)	CTAGE9, ENPP3 (L542W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334882	NM_001145659.1(CTAGE9):c.563T>C (p.Ile188Thr)	CTAGE9, ENPP3 (I188T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332297	NM_001145659.1(CTAGE9):c.365C>T (p.Ala122Val)	CTAGE9, ENPP3 (A122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325520	NM_005021.5(ENPP3):c.67A>G (p.Ile23Val)	ENPP3 (I23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325130	NM_005021.5(ENPP3):c.2370G>T (p.Lys790Asn)	ENPP3 (K790N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319313	NM_005021.5(ENPP3):c.470A>T (p.Asp157Val)	ENPP3 (D157V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316669	NM_001145659.1(CTAGE9):c.2256G>A (p.Met752Ile)	CTAGE9, ENPP3 (M752I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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