ClinVar for Gene (Select 4018) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3119693	NM_005577.4(LPA):c.5675A>G (p.Glu1892Gly)	LPA (E1892G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119692	NM_005577.4(LPA):c.5522T>C (p.Phe1841Ser)	LPA (F1841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119691	NM_005577.4(LPA):c.5158T>A (p.Cys1720Ser)	LPA (C1720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119690	NM_005577.4(LPA):c.5011G>T (p.Asp1671Tyr)	LPA (D1671Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119689	NM_005577.4(LPA):c.4678C>A (p.Pro1560Thr)	LPA (P1560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119688	NM_005577.4(LPA):c.4660C>A (p.Pro1554Thr)	LPA (P1554T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119687	NM_005577.4(LPA):c.4651T>G (p.Cys1551Gly)	LPA (C1551G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119686	NM_005577.4(LPA):c.4456G>A (p.Ala1486Thr)	LPA (A1486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119685	NM_005577.4(LPA):c.43A>G (p.Lys15Glu)	LPA (K15E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119684	NM_005577.4(LPA):c.4313G>A (p.Arg1438Lys)	LPA (R1438K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119683	NM_005577.4(LPA):c.4295T>C (p.Leu1432Pro)	LPA (L1432P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119682	NM_005577.4(LPA):c.4240T>C (p.Ser1414Pro)	LPA (S1414P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119681	NM_005577.4(LPA):c.4234T>C (p.Trp1412Arg)	LPA (W1412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119680	NM_005577.4(LPA):c.4210A>G (p.Ile1404Val)	LPA (I1404V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119679	NM_005577.4(LPA):c.4107C>A (p.Ser1369Arg)	LPA (S1369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119678	NM_005577.4(LPA):c.4026A>T (p.Arg1342Ser)	LPA (R1342S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119677	NM_005577.4(LPA):c.3992G>A (p.Arg1331His)	LPA (R1331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119675	NM_005577.4(LPA):c.3794C>T (p.Thr1265Met)	LPA (T1265M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119674	NM_005577.4(LPA):c.3491G>C (p.Gly1164Ala)	LPA (G1164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119673	NM_005577.4(LPA):c.3490G>A (p.Gly1164Arg)	LPA (G1164R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119672	NM_005577.4(LPA):c.3331C>T (p.Arg1111Cys)	LPA (R1111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119671	NM_005577.4(LPA):c.3263G>A (p.Arg1088Gln)	LPA (R1088Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119670	NM_005577.4(LPA):c.3143C>G (p.Thr1048Ser)	LPA (T1048S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119669	NM_005577.4(LPA):c.3030G>C (p.Glu1010Asp)	LPA (E1010D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119668	NM_005577.4(LPA):c.2827G>A (p.Gly943Arg)	LOC126859860, LPA (G943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119667	NM_005577.4(LPA):c.2628G>C (p.Arg876Ser)	LPA (R876S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119666	NM_005577.4(LPA):c.2599A>T (p.Asn867Tyr)	LPA (N867Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119665	NM_005577.4(LPA):c.2389G>A (p.Val797Ile)	LPA (V797I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119664	NM_005577.4(LPA):c.1178C>A (p.Ala393Asp)	LPA (A393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119663	NM_005577.4(LPA):c.1108T>G (p.Cys370Gly)	LPA (C370G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119662	NM_005577.4(LPA):c.1084G>C (p.Glu362Gln)	LPA (E362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046106	NM_005577.4(LPA):c.4471+8A>G	LPA	Single nucleotide variant (intron variant)	LPA-related condition	GLikely benign
Select item 3041243	NM_005577.4(LPA):c.4487G>T (p.Ser1496Ile)	LPA (S1496I)	Single nucleotide variant (missense variant)	LPA-related condition	GLikely benign
Select item 2673089	NM_005577.4(LPA):c.5311C>T (p.Arg1771Cys)	LPA (R1771C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2673088	NM_005577.4(LPA):c.5465G>A (p.Gly1822Glu)	LPA (G1822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657117	NM_005577.4(LPA):c.555C>T (p.Gly185=)	LPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657116	NM_005577.4(LPA):c.1063C>T (p.Pro355Ser)	LPA (P355S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657115	NM_005577.4(LPA):c.1064C>T (p.Pro355Leu)	LPA (P355L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657114	NM_005577.4(LPA):c.1063_1064delinsTT (p.Pro355Phe)	LPA (P355F)	Indel (missense variant)	not provided	GLikely benign
Select item 2657113	NM_005577.4(LPA):c.2804C>G (p.Pro935Arg)	LOC126859860, LPA (P935R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657112	NM_005577.4(LPA):c.3991C>A (p.Arg1331Ser)	LPA (R1331S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657111	NM_005577.4(LPA):c.5548T>C (p.Leu1850=)	LPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657110	NM_005577.4(LPA):c.5735+6C>T	LPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620367	NM_005577.4(LPA):c.73G>A (p.Val25Ile)	LPA (V25I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619299	NM_005577.4(LPA):c.3674G>A (p.Ser1225Asn)	LPA (S1225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610405	NM_005577.4(LPA):c.5450C>T (p.Pro1817Leu)	LPA (P1817L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606822	NM_005577.4(LPA):c.3689C>T (p.Thr1230Ile)	LPA (T1230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599113	NM_005577.4(LPA):c.4520G>A (p.Gly1507Glu)	LPA (G1507E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598217	NM_005577.4(LPA):c.3566G>A (p.Cys1189Tyr)	LPA (C1189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597921	NM_005577.4(LPA):c.3044C>G (p.Thr1015Arg)	LPA (T1015R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593417	NM_005577.4(LPA):c.3664G>A (p.Ala1222Thr)	LPA (A1222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593152	NM_005577.4(LPA):c.5981T>C (p.Leu1994Pro)	LPA (L1994P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591943	NM_005577.4(LPA):c.4652G>A (p.Cys1551Tyr)	LPA (C1551Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2561039	NM_005577.4(LPA):c.4403C>T (p.Thr1468Ile)	LPA (T1468I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548540	NM_005577.4(LPA):c.91G>A (p.Gly31Ser)	LPA (G31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544302	NM_005577.4(LPA):c.5638C>G (p.Gln1880Glu)	LPA (Q1880E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540701	NM_005577.4(LPA):c.3572C>G (p.Ser1191Cys)	LPA (S1191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534065	NM_005577.4(LPA):c.2683T>A (p.Trp895Arg)	LPA (W895R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517449	NM_005577.4(LPA):c.2465G>T (p.Gly822Val)	LPA (G822V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513952	NM_005577.4(LPA):c.3893G>C (p.Trp1298Ser)	LPA (W1298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513268	NM_005577.4(LPA):c.2453A>G (p.Glu818Gly)	LPA (E818G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512728	NM_005577.4(LPA):c.1085A>G (p.Glu362Gly)	LPA (E362G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510414	NM_005577.4(LPA):c.4449C>A (p.Ser1483Arg)	LPA (S1483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499029	NM_005577.4(LPA):c.894-3C>T	LPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2496032	NM_005577.4(LPA):c.5380T>C (p.Cys1794Arg)	LPA (C1794R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484530	NM_005577.4(LPA):c.2958G>T (p.Lys986Asn)	LPA (K986N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475517	NM_005577.4(LPA):c.5843G>A (p.Gly1948Asp)	LPA (G1948D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471019	NM_005577.4(LPA):c.4309T>G (p.Cys1437Gly)	LPA (C1437G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468893	NM_005577.4(LPA):c.4253A>T (p.His1418Leu)	LPA (H1418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466244	NM_005577.4(LPA):c.5302A>T (p.Asn1768Tyr)	LPA (N1768Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456796	NM_005577.4(LPA):c.2746A>G (p.Ile916Val)	LPA (I916V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454621	NM_005577.4(LPA):c.4874G>A (p.Arg1625Gln)	LPA (R1625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2412023	NM_005577.4(LPA):c.2450C>T (p.Thr817Ile)	LPA (T817I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407824	NM_005577.4(LPA):c.5284T>C (p.Trp1762Arg)	LPA (W1762R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401930	NM_005577.4(LPA):c.5207T>C (p.Val1736Ala)	LPA (V1736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397492	NM_005577.4(LPA):c.2546C>T (p.Ala849Val)	LPA (A849V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396805	NM_005577.4(LPA):c.6073C>T (p.Arg2025Cys)	LPA (R2025C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389188	NM_005577.4(LPA):c.182A>G (p.Asn61Ser)	LPA (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388609	NM_005577.4(LPA):c.5438C>T (p.Pro1813Leu)	LPA (P1813L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388072	NM_005577.4(LPA):c.4261C>T (p.Arg1421Trp)	LPA (R1421W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381172	NM_005577.4(LPA):c.4907C>T (p.Thr1636Ile)	LPA (T1636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373708	NM_005577.4(LPA):c.3581C>G (p.Ser1194Cys)	LPA (S1194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372582	NM_005577.4(LPA):c.3682T>A (p.Cys1228Ser)	LPA (C1228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372027	NM_005577.4(LPA):c.1178C>T (p.Ala393Val)	LPA (A393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361798	NM_005577.4(LPA):c.5800G>A (p.Ala1934Thr)	LPA (A1934T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348714	NM_005577.4(LPA):c.4993T>G (p.Cys1665Gly)	LPA (C1665G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347078	NM_005577.4(LPA):c.4718A>G (p.Tyr1573Cys)	LPA (Y1573C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346313	NM_005577.4(LPA):c.5329A>G (p.Ile1777Val)	LPA (I1777V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345501	NM_005577.4(LPA):c.3409A>G (p.Ser1137Gly)	LPA (S1137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341762	NM_005577.4(LPA):c.4334G>A (p.Arg1445His)	LPA (R1445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341152	NM_005577.4(LPA):c.68A>G (p.His23Arg)	LPA (H23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340672	NM_005577.4(LPA):c.3701A>G (p.Asn1234Ser)	LPA (N1234S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2328115	NM_005577.4(LPA):c.5126T>A (p.Val1709Asp)	LPA (V1709D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326539	NM_005577.4(LPA):c.3100C>T (p.Pro1034Ser)	LPA (P1034S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325983	NM_005577.4(LPA):c.5333A>G (p.Asn1778Ser)	LPA (N1778S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318117	NM_005577.4(LPA):c.3229G>A (p.Ala1077Thr)	LPA (A1077T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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