Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000483.4(APOC2):c.-62T>G | 344 | APOC2 | Benign | 2288911 | RCV000369592; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45449284 | 45449284 | | | NC_000019.9:g.45449284T>G | ClinGen:CA10652505 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.4(APOC2):c.-45C>T | 344 | APOC2 | Uncertain significance | 886054484 | RCV000394492; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45449301 | 45449301 | | | NC_000019.9:g.45449301C>T | ClinGen:CA10652057 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.-38G>C | 344 | APOC2 | Uncertain significance | 1970314890 | RCV001134427; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45449308 | 45449308 | | | 19:g.45449308G>C | - | | |
NM_000483.5(APOC2):c.-18G>A | 344 | APOC2 | Uncertain significance | 1433766273 | RCV001134428; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45449328 | 45449328 | | | 19:g.45449328G>A | - | | |
NM_000483.5(APOC2):c.-14+8A>G | 344 | APOC2 | Uncertain significance | -1 | RCV003228646; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45449340 | 45449340 | | | | - | | |
NM_000483.5(APOC2):c.-2C>T | 344 | APOC2 | Benign/Likely benign | 5121 | RCV000311438|RCV001566077|RCV002436184; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN230736 | 19 | 45451734 | 45451734 | | | NC_000019.9:g.45451734C>T | ClinGen:CA9506563 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.1A>G (p.Met1Val) | 344 | APOC2 | Pathogenic | 120074112 | RCV000002693|RCV000002694; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45451736 | 45451736 | | | 19:g.45451736A>G | ClinGen:CA115618,OMIM:608083.0007 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.55+1G>C | 344 | APOC2 | Pathogenic | 111628497 | RCV000002690|RCV000002689; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490| | 19 | 45451791 | 45451791 | | | 19:g.45451791G>C | OMIM:608083.0005 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.56-11T>C | 344 | APOC2 | Conflicting interpretations of pathogenicity | 778728968 | RCV001134429|RCV002558285; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202 | 19 | 45451947 | 45451947 | | | 19:g.45451947T>C | - | | |
NM_000483.5(APOC2):c.56-4G>C | 344 | APOC2 | Benign | 74500990 | RCV000963385|RCV001134430|RCV002346169; | N | MedGen:C3661900|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN230736 | 19 | 45451954 | 45451954 | | | 19:g.45451954G>C | - | | |
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) | 344 | APOC2 | Uncertain significance | 147242592 | RCV001134431|RCV001700702; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900 | 19 | 45451987 | 45451987 | | | 19:g.45451987G>A | - | | |
NM_000483.5(APOC2):c.102G>A (p.Pro34=) | 344 | APOC2 | Conflicting interpretations of pathogenicity | 199658000 | RCV000368497|RCV001545686; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202 | 19 | 45452004 | 45452004 | | | NC_000019.9:g.45452004G>A | ClinGen:CA9506605 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.118del (p.Gln39_Val40insTer) | 344 | APOC2 | Pathogenic | 1406419764 | RCV001700669|RCV002267118; | N | MedGen:C3661900|MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452019 | 45452019 | | | 45452018 | OMIM:608083.0006 | | |
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) | 344 | APOC2 | Conflicting interpretations of pathogenicity | 120074114 | RCV000002697|RCV001135899|RCV001551048|RCV003162207; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN230736 | 19 | 45452024 | 45452024 | | | 19:g.45452024A>C | ClinGen:CA115621,UniProtKB:P02655#VAR_000639,OMIM:608083.0009 | | |
NM_000483.5(APOC2):c.142T>C (p.Trp48Arg) | 344 | APOC2 | Pathogenic | 120074115 | RCV000002700|RCV000002699; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490| | 19 | 45452044 | 45452044 | | | 19:g.45452044T>C | ClinGen:CA115625,UniProtKB:P02655#VAR_000640,OMIM:608083.0011 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.177C>A (p.Tyr59Ter) | 344 | APOC2 | Likely pathogenic | 120074111 | RCV000002683|RCV000002684|RCV002281037; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202 | 19 | 45452079 | 45452079 | | | 19:g.45452079C>A | ClinGen:CA115616,OMIM:608083.0002 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.177C>G (p.Tyr59Ter) | 344 | APOC2 | Pathogenic | 120074111 | RCV000002696|RCV000002695; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490| | 19 | 45452079 | 45452079 | | | 19:g.45452079C>G | ClinGen:CA115620,OMIM:608083.0008 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) | 344 | APOC2 | Benign/Likely benign | 5122 | RCV000002698|RCV000991187|RCV001513190|RCV002399306; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN230736 | 19 | 45452080 | 45452080 | | | 19:g.45452080G>A | ClinGen:CA115623,UniProtKB:P02655#VAR_000641,OMIM:608083.0010 | | |
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter) | 344 | APOC2 | Pathogenic | 754423238 | RCV000784907; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452091 | 45452091 | | | 19:g.45452091C>A | - | | |
NM_000483.5(APOC2):c.195C>A (p.Pro65=) | 344 | APOC2 | Conflicting interpretations of pathogenicity | 145771233 | RCV001135900|RCV001702880|RCV001700976|RCV003163294; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:CN517202|MedGen:CN169374|MedGen:CN230736 | 19 | 45452097 | 45452097 | | | 19:g.45452097C>A | - | | |
NM_000483.5(APOC2):c.255C>A (p.Tyr85Ter) | 344 | APOC2 | Pathogenic | 120074116 | RCV000002701|RCV000002702; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452455 | 45452455 | | | 19:g.45452455C>A | ClinGen:CA115626,OMIM:608083.0012 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.270del (p.Asp91fs) | 344 | APOC2 | Pathogenic | 2122211012 | RCV000002687|RCV000002688; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452470 | 45452470 | | | 45452469 | OMIM:608083.0004 | | |
NM_000483.5(APOC2):c.274dup (p.Gln92fs) | 344 | APOC2 | Pathogenic | 756916028 | RCV000002685|RCV000002686; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452472 | 45452473 | | | 45452472 | LOVD 3:APOC2_000035,OMIM:608083.0003 | | |
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter) | 344 | APOC2 | Pathogenic | 199563828 | RCV002249256; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452474 | 45452474 | | | 45452474 | - | | |
NM_000483.5(APOC2):c.301G>A (p.Glu101Lys) | 344 | APOC2 | Uncertain significance | 886054485 | RCV000271567; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452501 | 45452501 | | | NC_000019.9:g.45452501G>A | ClinGen:CA10648770 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*24C>T | 344 | APOC2 | Uncertain significance | 780350789 | RCV000328931; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452530 | 45452530 | | | NC_000019.9:g.45452530C>T | ClinGen:CA9506662 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*77C>A | 344 | APOC2 | Uncertain significance | 1474754355 | RCV001135901; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452583 | 45452583 | | | 19:g.45452583C>A | - | | |
NM_000483.5(APOC2):c.*90C>T | 344 | APOC2 | Benign/Likely benign | 7253690 | RCV000362575|RCV001559958; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900 | 19 | 45452596 | 45452596 | | | NC_000019.9:g.45452596C>T | ClinGen:CA10652059 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*116T>C | 344 | APOC2 | Likely benign | 537917972 | RCV000270318; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452622 | 45452622 | | | NC_000019.9:g.45452622T>C | ClinGen:CA10648771 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*174T>C | 344 | APOC2 | Uncertain significance | 886054486 | RCV000322645; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452680 | 45452680 | | | NC_000019.9:g.45452680T>C | ClinGen:CA10648772 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*188_*189insT | 344 | APOC2 | Benign | 150448996 | RCV000379648|RCV001653599; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900 | 19 | 45452694 | 45452695 | | | NC_000019.9:g.45452694_45452695insT | ClinGen:CA10642907 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*203G>A | 344 | APOC2 | Uncertain significance | 886054487 | RCV000282845; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452709 | 45452709 | | | NC_000019.9:g.45452709G>A | ClinGen:CA10642918 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*236C>T | 344 | APOC2 | Likely benign | 142212854 | RCV000321517; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452742 | 45452742 | | | NC_000019.9:g.45452742C>T | ClinGen:CA10652060 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*306C>T | 344 | APOC2 | Benign | 1130742 | RCV000373927|RCV001613064; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900 | 19 | 45452812 | 45452812 | | | NC_000019.9:g.45452812C>T | ClinGen:CA10652509 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.*308dup | 344 | APOC2 | Uncertain significance | 199828513 | RCV000281770; | N | MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490 | 19 | 45452813 | 45452814 | | | NC_000019.9:g.45452814dup | ClinGen:CA10652065 | C1720779 207750 Apolipoprotein C2 deficiency; | |
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) | -1 | APOC2;APOC4-APOC2 | Benign/Likely benign | 5126 | RCV000002682|RCV000991188|RCV000974450|RCV001777130|RCV002444415; | N | |MONDO:MONDO:0008810,MedGen:C1720779,OMIM:207750, Orphanet:309020, Orphanet:444490|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736 | 19 | 45452429 | 45452429 | | | 19:g.45452429A>C | ClinGen:CA115614,UniProtKB:P02655#VAR_000642,OMIM:608083.0001 | | |