All variants in the APOC4-APOC2 gene

Information The variants shown are described using the NR_037932.1 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - n.108G>T r.(?) - - VUS g.45445602G>T g.44942345G>T APOC4(NM_001646.2):c.68G>T (p.(Cys23Phe)) - APOC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - n.1146T>G r.(?) - - benign g.45449284T>G - APOC2(NM_000483.4):c.-62T>G - APOC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.1195-795T>C r.(?) - - benign g.45450928T>C g.44947671T>C APOC2(NM_000483.5):c.-13-795T>C, APOC4-APOC2(NR_037932.1):n.1195-795T>C - APOC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1195-281A>G r.(?) - - benign g.45451442A>G g.44948185A>G APOC2(NM_000483.5):c.-13-281A>G, APOC4-APOC2(NR_037932.1):n.1195-281A>G - APOC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1195-188A>G r.(?) - - likely benign g.45451535A>G g.44948278A>G APOC2(NM_000483.5):c.-13-188A>G, APOC4-APOC2(NR_037932.1):n.1195-188A>G - APOC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1195-103T>A r.(?) - - benign g.45451620T>A g.44948363T>A APOC2(NM_000483.4):c.-13-103T>A, APOC2(NM_000483.5):c.-13-103T>A, APOC4-APOC2(NR_037932.1):n.1195-103T>A - APOC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1195-103T>A r.(?) - - benign g.45451620T>A - APOC2(NM_000483.4):c.-13-103T>A, APOC2(NM_000483.5):c.-13-103T>A, APOC4-APOC2(NR_037932.1):n.1195-103T>A - APOC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - n.1195-76C>G r.(?) - - likely benign g.45451647C>G g.44948390C>G APOC2(NM_000483.5):c.-13-76C>G, APOC4-APOC2(NR_037932.1):n.1195-76C>G - APOC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1195-67T>G r.(?) - - benign g.45451656T>G g.44948399T>G APOC2(NM_000483.5):c.-13-67T>G, APOC4-APOC2(NR_037932.1):n.1195-67T>G - APOC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1197C>T r.(?) - - VUS g.45451725C>T - APOC2(NM_000483.5):c.-11C>T - APOC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1206C>T r.(?) - - likely benign g.45451734C>T g.44948477C>T APOC2(NM_000483.5):c.-2C>T - APOC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1215C>T r.(?) - - VUS g.45451743C>T g.44948486C>T APOC2(NM_000483.5):c.8C>T (p.T3I) - APOC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - n.1217C>T r.(?) - - pathogenic g.45451745C>T g.44948488C>T APOC2(NM_000483.5):c.10C>T (p.R4*) - APOC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1238C>T r.(?) - - VUS g.45451766C>T - APOC2(NM_000483.5):c.31C>T (p.L11F) - APOC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1241G>A r.(?) - - benign g.45451769G>A g.44948512G>A APOC2(NM_000483.5):c.34G>A (p.V12I) - APOC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1252A>G r.(?) - - likely benign g.45451780A>G g.44948523A>G APOC2(NM_000483.5):c.45A>G (p.V15=) - APOC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.1262+6T>G r.(?) - - likely pathogenic g.45451796T>G - APOC2(NM_000483.5):c.55+6T>G - APOC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1262+9G>C r.(?) - - likely benign g.45451799G>C - APOC2(NM_000483.5):c.55+9G>C - APOC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1262+59T>G r.(?) - - benign g.45451849T>G g.44948592T>G APOC2(NM_000483.5):c.55+59T>G, APOC4-APOC2(NR_037932.1):n.1262+59T>G - APOC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1263-20G>C r.(?) - - likely benign g.45451938G>C - APOC2(NM_000483.5):c.56-20G>C - APOC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1263-13T>A r.(?) - - VUS g.45451945T>A - APOC2(NM_000483.5):c.56-13T>A - APOC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1263-11T>C r.(?) - - VUS g.45451947T>C g.44948690T>C APOC2(NM_000483.5):c.56-11T>C - APOC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1263-4G>C r.(?) - - likely benign g.45451954G>C g.44948697G>C APOC2(NM_000483.5):c.56-4G>C - APOC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1292G>A r.(?) - - VUS g.45451987G>A g.44948730G>A APOC2(NM_000483.5):c.85G>A (p.D29N) - APOC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1292G>A r.(?) - - VUS g.45451987G>A g.44948730G>A APOC2(NM_000483.5):c.85G>A (p.D29N) - APOC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - n.1308C>T r.(?) - - likely benign g.45452003C>T g.44948746C>T APOC2(NM_000483.5):c.101C>T (p.P34L) - APOC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - n.1325del r.(?) - - pathogenic g.45452020del g.44948763del APOC2(NM_000483.5):c.118delG (p.V40*) - APOC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - n.1325del r.(?) - - pathogenic g.45452020del - APOC2(NM_000483.5):c.118delG (p.V40*) - APOC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - n.1329A>C r.(?) - - likely pathogenic g.45452024A>C g.44948767A>C APOC2(NM_000483.5):c.122A>C (p.K41T) - APOC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - n.1329A>C r.(?) - - pathogenic g.45452024A>C g.44948767A>C APOC2(NM_000483.5):c.122A>C (p.K41T) - APOC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - n.1342_1343del r.(?) - - pathogenic g.45452037_45452038del - APOC2(NM_000483.4):c.135_136delCA (p.S46Lfs*23) - APOC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - n.1346T>C r.(?) - - likely pathogenic g.45452041T>C - APOC2(NM_000483.5):c.139T>C (p.Y47H) - APOC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - n.1356C>A r.(?) - - pathogenic g.45452051C>A - APOC2(NM_000483.5):c.149C>A (p.S50*) - APOC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1359C>T r.(?) - - VUS g.45452054C>T - APOC2(NM_000483.5):c.152C>T (p.A51V) - APOC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1367G>A r.(?) - - VUS g.45452062G>A - APOC2(NM_000483.5):c.160G>A (p.A54T) - APOC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1372C>T r.(?) - - likely benign g.45452067C>T - APOC2(NM_000483.5):c.165C>T (p.A55=) - APOC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1383A>G r.(?) - - VUS g.45452078A>G - APOC2(NM_000483.5):c.176A>G (p.Y59C) - APOC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1384C>T r.(?) - - benign g.45452079C>T g.44948822C>T APOC2(NM_000483.5):c.177C>T (p.Y59=) - APOC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1385G>A r.(?) - - VUS g.45452080G>A g.44948823G>A APOC2(NM_000483.5):c.178G>A (p.E60K) - APOC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1387G>A r.(?) - - benign g.45452082G>A g.44948825G>A APOC2(NM_000483.5):c.180G>A (p.E60=) - APOC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1402C>A r.(?) - - benign g.45452097C>A g.44948840C>A APOC2(NM_000483.5):c.195C>A (p.P65=) - APOC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1402C>A r.(?) - - likely benign g.45452097C>A - APOC2(NM_000483.5):c.195C>A (p.P65=) - APOC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - n.1406G>A r.(?) - - VUS g.45452101G>A - APOC2(NM_000483.5):c.199G>A (p.V67I) - APOC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1408A>C r.(?) - - VUS g.45452103A>C g.44948846A>C APOC2(NM_000483.5):c.201A>C (p.V67=) - APOC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.1422+1G>C r.(?) - - likely pathogenic g.45452118G>C g.44948861G>C APOC2(NM_000483.5):c.215+1G>C - APOC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.1422+3A>G r.(?) - - likely pathogenic g.45452120A>G g.44948863A>G APOC2(NM_000483.5):c.215+3A>G - APOC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1422+16G>T r.(?) - - likely benign g.45452133G>T - APOC2(NM_000483.5):c.215+16G>T - APOC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1422+146C>T r.(?) - - likely benign g.45452263C>T g.44949006C>T APOC2(NM_000483.5):c.215+146C>T - APOC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1422+147C>T r.(?) - - likely benign g.45452264C>T g.44949007C>T APOC2(NM_000483.5):c.215+147C>T, APOC4-APOC2(NR_037932.1):n.1422+147C>T - APOC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1422+148del r.(?) - - likely benign g.45452265del g.44949008del APOC2(NM_000483.5):c.215+148delC, APOC4-APOC2(NR_037932.1):n.1422+148delC - APOC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1423-146_1423-145insCTC r.(?) - - benign g.45452270_45452271insCTC g.44949013_44949014insCTC APOC2(NM_000483.5):c.216-146_216-145insCTC, APOC4-APOC2(NR_037932.1):n.1423-146_1423-145insCTC - APOC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1423-145G>T r.(?) - - benign g.45452271G>T g.44949014G>T APOC2(NM_000483.5):c.216-145G>T, APOC4-APOC2(NR_037932.1):n.1423-145G>T - APOC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1423-81T>C r.(?) - - benign g.45452335T>C g.44949078T>C APOC2(NM_000483.4):c.216-81T>C, APOC2(NM_000483.5):c.216-81T>C, APOC4-APOC2(NR_037932.1):n.1423-81T>C - APOC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1423-81T>C r.(?) - - benign g.45452335T>C - APOC2(NM_000483.4):c.216-81T>C, APOC2(NM_000483.5):c.216-81T>C, APOC4-APOC2(NR_037932.1):n.1423-81T>C - APOC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - n.1423-74A>C r.(?) - - benign g.45452342A>C - APOC2(NM_000483.5):c.216-74A>C, APOC4-APOC2(NR_037932.1):n.1423-74A>C - APOC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1436A>C r.(?) - - likely benign g.45452429A>C g.44949172A>C APOC2(NM_000483.5):c.229A>C (p.K77Q), APOC4-APOC2(NR_037932.1):n.1436A>C - APOC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1443C>T r.(?) - - VUS g.45452436C>T - APOC2(NM_000483.5):c.236C>T (p.T79I) - APOC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - n.1451A>G r.(?) - - VUS g.45452444A>G g.44949187A>G APOC2(NM_000483.5):c.244A>G (p.M82V) - APOC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.1452T>G r.(?) - - likely pathogenic g.45452445T>G g.44949188T>G APOC2(NM_000483.4):c.245T>G (p.M82R), APOC2(NM_000483.5):c.245T>G (p.M82R) - APOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1452T>G r.(?) - - VUS g.45452445T>G - APOC2(NM_000483.4):c.245T>G (p.M82R), APOC2(NM_000483.5):c.245T>G (p.M82R) - APOC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - n.1470T>C r.(?) - - likely pathogenic g.45452463T>C g.44949206T>C APOC2(NM_000483.5):c.263T>C (p.I88T) - APOC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - n.1481dup r.(?) - - likely pathogenic g.45452474dup g.44949217dup APOC2(NM_000483.5):c.274dupC (p.Q92Pfs*28) - APOC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1522C>T r.(?) - - VUS g.45452515C>T - APOC2(NM_000483.5):c.*9C>T - APOC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1527C>A r.(?) - - VUS g.45452520C>A - APOC2(NM_000483.5):c.*14C>A - APOC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1527C>G r.(?) - - VUS g.45452520C>G g.44949263C>G APOC2(NM_000483.5):c.*14C>G - APOC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - n.1527C>T r.(?) - - VUS g.45452520C>T g.44949263C>T APOC2(NM_000483.5):c.*14C>T - APOC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1546_1547del r.(?) - - likely benign g.45452539_45452540del g.44949282_44949283del APOC2(NM_000483.5):c.*33_*34delAG - APOC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1701_1702insT r.(?) - - benign g.45452694_45452695insT g.44949437_44949438insT APOC2(NM_000483.5):c.*188_*189insT, APOC4-APOC2(NR_037932.1):n.1701_1702insT - APOC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - n.1802T>C r.(?) - - likely benign g.45452795T>C - APOC2(NM_000483.5):c.*289T>C - APOC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - n.1819C>T r.(?) - - benign g.45452812C>T g.44949555C>T APOC2(NM_000483.5):c.*306C>T, APOC4-APOC2(NR_037932.1):n.1819C>T - APOC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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