ClinVar for Gene (Select 643854) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270018	NM_001145659.1(CTAGE9):c.358G>A (p.Ala120Thr)	CTAGE9, ENPP3 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270017	NM_001145659.1(CTAGE9):c.1170C>G (p.Phe390Leu)	CTAGE9, ENPP3 (F390L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270016	NM_001145659.1(CTAGE9):c.1054C>T (p.Leu352Phe)	CTAGE9, ENPP3 (L352F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270015	NM_001145659.1(CTAGE9):c.2140T>C (p.Phe714Leu)	CTAGE9, ENPP3 (F714L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270014	NM_001145659.1(CTAGE9):c.1382G>C (p.Arg461Thr)	CTAGE9, ENPP3 (R461T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2316669	NM_001145659.1(CTAGE9):c.2256G>A (p.Met752Ile)	CTAGE9, ENPP3 (M752I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313879	NM_001145659.1(CTAGE9):c.863C>A (p.Thr288Lys)	CTAGE9, ENPP3 (T288K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296635	NM_001145659.1(CTAGE9):c.601A>G (p.Ser201Gly)	CTAGE9, ENPP3 (S201G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271343	NM_001145659.1(CTAGE9):c.1482G>C (p.Glu494Asp)	CTAGE9, ENPP3 (E494D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270513	NM_001145659.1(CTAGE9):c.10C>G (p.Pro4Ala)	CTAGE9, ENPP3 (P4A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267560	NM_001145659.1(CTAGE9):c.448G>C (p.Glu150Gln)	CTAGE9, ENPP3 (E150Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267338	NM_001145659.1(CTAGE9):c.551T>G (p.Leu184Arg)	CTAGE9, ENPP3 (L184R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262293	NM_001145659.1(CTAGE9):c.2110C>A (p.Pro704Thr)	CTAGE9, ENPP3 (P704T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259356	NM_001145659.1(CTAGE9):c.623C>T (p.Ala208Val)	CTAGE9, ENPP3 (A208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253834	NM_001145659.1(CTAGE9):c.1489T>C (p.Phe497Leu)	CTAGE9, ENPP3 (F497L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237381	NM_001145659.1(CTAGE9):c.1165G>C (p.Glu389Gln)	CTAGE9, ENPP3 (E389Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224603	NM_001145659.1(CTAGE9):c.1409G>A (p.Arg470Gln)	CTAGE9, ENPP3 (R470Q)	Single nucleotide variant (missense variant +1 more)	not specified	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	ARG1, CTAGE9 +4 more	Duplication	Arginase deficiency	GUncertain significance
Select item 687760	GRCh37/hg19 6q23.2(chr6:131673206-132706248)x1	ENPP1, ENPP3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687376	GRCh37/hg19 6q23.2(chr6:131958069-132444234)x3	CCN2, CTAGE9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625707	GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991)	ARG1, AKAP7 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 503591	GRCh37/hg19 6q23.2(chr6:131703293-132212694)x3	ARG1, CTAGE9 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442296	GRCh37/hg19 6q23.2(chr6:131605284-132219490)x1	ARG1, CTAGE9 +4 more	Copy number loss	See cases	GLikely benign
Select item 154738	GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1	AKAP7, ARG1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 154269	GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1	AKAP7, ARG1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 90