| 151355553 | CV1328620 | single nucleotide variant | NM_000236.3(LIPC):c.89-4G>A | Type 2 diabetes mellitus [RCV003228002]|not provided [RCV002542050]|not specified [RCV001820625] | benign|likely benign|uncertain significance | 15 | 58538329 | 58538329 | Human | 3 | name , alternate_id |
| 401857760 | CV2752196 | single nucleotide variant | NM_000236.3(LIPC):c.88+8C>A | Type 2 diabetes mellitus [RCV003336603]|not provided [RCV003561313] | benign|uncertain significance | 15 | 58432128 | 58432128 | Human | 3 | name , alternate_id |
| 28886703 | CV876546 | single nucleotide variant | NM_000236.3(LIPC):c.88+5G>C | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119412] | uncertain significance | 15 | 58432125 | 58432125 | Human | 1 | name , alternate_id |
| 126743307 | CV1021338 | single nucleotide variant | NM_000236.3(LIPC):c.456+2T>C | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV004565651]|not provided [RCV003004994] | pathogenic|uncertain significance | 15 | 58541969 | 58541969 | Human | 1 | name , alternate_id |
| 150445714 | CV1233225 | single nucleotide variant | NM_000236.3(LIPC):c.88+64A>G | not provided [RCV001645898] | benign | 15 | 58432184 | 58432184 | Human | | name |
| 150457619 | CV1237099 | single nucleotide variant | NM_000236.3(LIPC):c.88+52C>T | not provided [RCV001648778] | benign | 15 | 58432172 | 58432172 | Human | | name |
| 329847309 | CV2534478 | single nucleotide variant | NM_000236.3(LIPC):c.274-5C>T | Type 2 diabetes mellitus [RCV003228688] | uncertain significance | 15 | 58541780 | 58541780 | Human | 3 | name |
| 8564246 | CV29494 | variation | LIPC, INTRON 1 HAPLOTYPE, TA | High density lipoprotein cholesterol level quantitative trait locus 12 [RCV000015541] | association | | | | Human | | name |
| 11622361 | CV340955 | single nucleotide variant | NM_000236.3(LIPC):c.575-8C>A | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000359514]|not provided [RCV001653553] | benign|likely benign | 15 | 58545734 | 58545734 | Human | 1 | name , alternate_id |
| 11625614 | CV340956 | single nucleotide variant | NM_000236.3(LIPC):c.575-5A>G | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000400852] | uncertain significance | 15 | 58545737 | 58545737 | Human | 1 | name , alternate_id |
| 597942139 | CV3757552 | single nucleotide variant | NM_000236.3(LIPC):c.809-7G>T | not provided [RCV005077738] | likely benign | 15 | 58548323 | 58548323 | Human | | name |
| 28892611 | CV876547 | single nucleotide variant | NM_000236.3(LIPC):c.456+5C>T | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121405]|not provided [RCV001882395] | uncertain significance | 15 | 58541972 | 58541972 | Human | 1 | name , alternate_id |
| 150428564 | CV1188240 | single nucleotide variant | NM_000236.3(LIPC):c.808+73C>G | not provided [RCV001562425] | likely benign | 15 | 58546048 | 58546048 | Human | | name |
| 150470943 | CV1209435 | single nucleotide variant | NM_000236.3(LIPC):c.808+26G>A | not provided [RCV001588546] | likely benign | 15 | 58546001 | 58546001 | Human | | name |
| 150476315 | CV1216793 | single nucleotide variant | NM_000236.3(LIPC):c.809-79A>C | not provided [RCV001616086] | benign | 15 | 58548251 | 58548251 | Human | | name |
| 150513967 | CV1227989 | single nucleotide variant | NM_000236.3(LIPC):c.575-31T>C | not provided [RCV001638267] | benign | 15 | 58545711 | 58545711 | Human | | name |
| 150445800 | CV1250567 | single nucleotide variant | NM_000236.3(LIPC):c.274-46G>A | not provided [RCV001667071] | benign | 15 | 58541739 | 58541739 | Human | | name |
| 150502194 | CV1255234 | single nucleotide variant | NM_000236.3(LIPC):c.88+205A>G | not provided [RCV001677153] | benign | 15 | 58432325 | 58432325 | Human | | name |
| 150445783 | CV1271766 | single nucleotide variant | NM_000236.3(LIPC):c.574+79C>T | not provided [RCV001691180] | benign | 15 | 58542730 | 58542730 | Human | | name |
| 150531635 | CV1291320 | single nucleotide variant | NM_000236.3(LIPC):c.575-91C>T | not provided [RCV001733158] | likely benign | 15 | 58545651 | 58545651 | Human | | name |
| 150531059 | CV1291540 | single nucleotide variant | NM_000236.3(LIPC):c.575-89G>A | not provided [RCV001732798] | likely benign | 15 | 58545653 | 58545653 | Human | | name |
| 151712403 | CV1334418 | single nucleotide variant | NM_000236.3(LIPC):c.809-47T>C | not provided [RCV001840892] | likely benign | 15 | 58548283 | 58548283 | Human | | name |
| 151787753 | CV1345831 | single nucleotide variant | NM_000236.3(LIPC):c.1170-2A>G | not provided [RCV001897873] | uncertain significance | 15 | 58563503 | 58563503 | Human | | name |
| 155267804 | CV1701365 | single nucleotide variant | NM_000236.3(LIPC):c.1052-1G>C | Abnormal circulating lipid concentration [RCV002283592] | pathogenic | 15 | 58560863 | 58560863 | Human | 1 | name |
| 156157615 | CV1987950 | single nucleotide variant | NM_000236.3(LIPC):c.574+18C>T | not provided [RCV002642287] | likely benign | 15 | 58542669 | 58542669 | Human | | name |
| 155972421 | CV2021666 | deletion | NM_000236.3(LIPC):c.809-14del | not provided [RCV002754954] | likely benign | 15 | 58548316 | 58548316 | Human | | name |
| 402492064 | CV2949088 | single nucleotide variant | NM_000236.3(LIPC):c.809-19T>C | not provided [RCV003660555] | likely benign | 15 | 58548311 | 58548311 | Human | | name |
| 405121928 | CV2953955 | single nucleotide variant | NM_000236.3(LIPC):c.456+11G>A | not provided [RCV003667465] | likely benign | 15 | 58541978 | 58541978 | Human | | name |
| 404979862 | CV3127830 | single nucleotide variant | NM_000236.3(LIPC):c.457-16C>T | not provided [RCV003825862] | likely benign | 15 | 58542518 | 58542518 | Human | | name |
| 405243843 | CV3164864 | single nucleotide variant | NM_000236.3(LIPC):c.456+12C>T | not provided [RCV003867945] | likely benign | 15 | 58541979 | 58541979 | Human | | name |
| 597854156 | CV3747581 | single nucleotide variant | NM_000236.3(LIPC):c.273+16A>G | not provided [RCV005066592] | likely benign | 15 | 58538533 | 58538533 | Human | | name |
| 28877222 | CV876548 | single nucleotide variant | NM_000236.3(LIPC):c.575-15C>T | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116509]|not provided [RCV001732046] | benign|likely benign | 15 | 58545727 | 58545727 | Human | 1 | name , alternate_id |
| 150331566 | CV1163608 | single nucleotide variant | NM_000236.3(LIPC):c.274-242T>C | not provided [RCV001527853] | benign | 15 | 58541543 | 58541543 | Human | | name |
| 150413864 | CV1191690 | single nucleotide variant | NM_000236.3(LIPC):c.1052-97C>G | not provided [RCV001567335] | likely benign | 15 | 58560767 | 58560767 | Human | | name |
| 150450134 | CV1205234 | single nucleotide variant | NM_000236.3(LIPC):c.1052-31T>A | not provided [RCV001585133] | likely benign | 15 | 58560833 | 58560833 | Human | | name |
| 150444976 | CV1215415 | single nucleotide variant | NM_000236.3(LIPC):c.456+209T>C | not provided [RCV001611008] | benign | 15 | 58542176 | 58542176 | Human | | name |
| 150430467 | CV1230894 | single nucleotide variant | NM_000236.3(LIPC):c.1169+31T>C | not provided [RCV001641443] | benign | 15 | 58561012 | 58561012 | Human | | name |
| 150436559 | CV1234079 | single nucleotide variant | NM_000236.3(LIPC):c.575-223C>T | not provided [RCV001644206] | benign | 15 | 58545519 | 58545519 | Human | | name |
| 150511934 | CV1242838 | single nucleotide variant | NM_000236.3(LIPC):c.457-194A>C | not provided [RCV001661191] | benign | 15 | 58542340 | 58542340 | Human | | name |
| 150466115 | CV1255686 | single nucleotide variant | NM_000236.3(LIPC):c.575-219G>A | not provided [RCV001670320] | benign | 15 | 58545523 | 58545523 | Human | | name |
| 150497507 | CV1256719 | single nucleotide variant | NM_000236.3(LIPC):c.274-279T>C | not provided [RCV001676211] | benign | 15 | 58541506 | 58541506 | Human | | name |
| 150507241 | CV1256884 | single nucleotide variant | NM_000236.3(LIPC):c.456+225A>G | not provided [RCV001678387] | benign | 15 | 58542192 | 58542192 | Human | | name |
| 150488558 | CV1265267 | single nucleotide variant | NM_000236.3(LIPC):c.808+254T>C | not provided [RCV001687303] | benign | 15 | 58546229 | 58546229 | Human | | name |
| 150467421 | CV1269227 | single nucleotide variant | NM_000236.3(LIPC):c.273+250C>T | not provided [RCV001694635] | benign | 15 | 58538767 | 58538767 | Human | | name |
| 150467634 | CV1269264 | single nucleotide variant | NM_000236.3(LIPC):c.575-177A>G | not provided [RCV001694672] | benign | 15 | 58545565 | 58545565 | Human | | name |
| 150483184 | CV1280152 | single nucleotide variant | NM_000236.3(LIPC):c.1169+38C>T | not provided [RCV001715145] | benign | 15 | 58561019 | 58561019 | Human | | name |
| 150436845 | CV1286438 | single nucleotide variant | NM_000236.3(LIPC):c.808+266T>C | not provided [RCV001724516] | benign | 15 | 58546241 | 58546241 | Human | | name |
| 151712398 | CV1334417 | single nucleotide variant | NM_000236.3(LIPC):c.809-232C>T | not provided [RCV001840891] | likely benign | 15 | 58548098 | 58548098 | Human | | name |
| 152129925 | CV1550996 | single nucleotide variant | NM_000236.3(LIPC):c.1389-12T>C | not provided [RCV002155389] | likely benign | 15 | 58568704 | 58568704 | Human | | name |
| 11616606 | CV332624 | single nucleotide variant | NM_000236.3(LIPC):c.1052-10C>G | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000296445]|not provided [RCV002061188] | benign|likely benign|uncertain significance | 15 | 58560854 | 58560854 | Human | 1 | name , alternate_id |
| 11621320 | CV332633 | single nucleotide variant | NM_000236.3(LIPC):c.1169+11G>A | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000347290] | uncertain significance | 15 | 58560992 | 58560992 | Human | 1 | name , alternate_id |
| 597871800 | CV3737308 | single nucleotide variant | NM_000236.3(LIPC):c.1051+15G>A | not provided [RCV005068754] | likely benign | 15 | 58548587 | 58548587 | Human | | name |
| 597892489 | CV3743848 | single nucleotide variant | NM_000236.3(LIPC):c.1051+16G>C | not provided [RCV005071318] | likely benign | 15 | 58548588 | 58548588 | Human | | name |
| 28877566 | CV876549 | single nucleotide variant | NM_000236.3(LIPC):c.1388+13T>G | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116614]|not provided [RCV002556469] | likely benign|uncertain significance | 15 | 58563736 | 58563736 | Human | 1 | name , alternate_id |
| 150424238 | CV1184994 | deletion | NM_000236.3(LIPC):c.1170-239del | not provided [RCV001556401] | likely benign | 15 | 58563265 | 58563265 | Human | | name |
| 150452384 | CV1205520 | single nucleotide variant | NM_000236.3(LIPC):c.1051+201T>G | not provided [RCV001585421] | likely benign | 15 | 58548773 | 58548773 | Human | | name |
| 150503333 | CV1212460 | single nucleotide variant | NM_000236.3(LIPC):c.1052-149C>G | not provided [RCV001595335] | benign | 15 | 58560715 | 58560715 | Human | | name |
| 150505834 | CV1213626 | single nucleotide variant | NM_000236.3(LIPC):c.1389-213T>A | not provided [RCV001595882] | benign | 15 | 58568503 | 58568503 | Human | | name |
| 150444920 | CV1215405 | single nucleotide variant | NM_000236.3(LIPC):c.1388+277G>T | not provided [RCV001610998] | benign | 15 | 58564000 | 58564000 | Human | | name |
| 150434067 | CV1217083 | single nucleotide variant | NM_000236.3(LIPC):c.1388+271T>C | not provided [RCV001608985] | benign | 15 | 58563994 | 58563994 | Human | | name |
| 150492083 | CV1225409 | single nucleotide variant | NM_000236.3(LIPC):c.1388+164C>T | not provided [RCV001618924] | benign | 15 | 58563887 | 58563887 | Human | | name |
| 150517108 | CV1227845 | single nucleotide variant | NM_000236.3(LIPC):c.1051+151A>T | not provided [RCV001639648] | benign | 15 | 58548723 | 58548723 | Human | | name |
| 150430088 | CV1231963 | single nucleotide variant | NM_000236.3(LIPC):c.1052-275G>A | not provided [RCV001641225] | benign | 15 | 58560589 | 58560589 | Human | | name |
| 150473356 | CV1234265 | single nucleotide variant | NM_000236.3(LIPC):c.1052-141A>C | not provided [RCV001651584] | benign | 15 | 58560723 | 58560723 | Human | | name |
| 150491865 | CV1238071 | single nucleotide variant | NM_000236.3(LIPC):c.1170-224A>G | not provided [RCV001654917] | benign | 15 | 58563281 | 58563281 | Human | | name |
| 150494372 | CV1238855 | single nucleotide variant | NM_000236.3(LIPC):c.1169+127C>G | not provided [RCV001655399] | benign | 15 | 58561108 | 58561108 | Human | | name |
| 150475887 | CV1239802 | single nucleotide variant | NM_000236.3(LIPC):c.1169+183C>T | not provided [RCV001651979] | benign | 15 | 58561164 | 58561164 | Human | | name |
| 150468857 | CV1243063 | single nucleotide variant | NM_000236.3(LIPC):c.1389-161T>G | not provided [RCV001650581] | benign | 15 | 58568555 | 58568555 | Human | | name |
| 150463098 | CV1253756 | single nucleotide variant | NM_000236.3(LIPC):c.1169+245T>C | not provided [RCV001669798] | benign | 15 | 58561226 | 58561226 | Human | | name |
| 150492510 | CV1253949 | single nucleotide variant | NM_000236.3(LIPC):c.1388+111T>C | not provided [RCV001675045] | benign | 15 | 58563834 | 58563834 | Human | | name |
| 150504308 | CV1257970 | single nucleotide variant | NM_000236.3(LIPC):c.1051+159T>C | not provided [RCV001677659] | benign | 15 | 58548731 | 58548731 | Human | | name |
| 150477354 | CV1272034 | single nucleotide variant | NM_000236.3(LIPC):c.1052-274T>G | not provided [RCV001696319] | benign | 15 | 58560590 | 58560590 | Human | | name |
| 150484039 | CV1280347 | single nucleotide variant | NM_000236.3(LIPC):c.1051+111G>C | not provided [RCV001715294] | benign | 15 | 58548683 | 58548683 | Human | | name |
| 150336474 | CV1172745 | microsatellite | NM_000236.3(LIPC):c.1169+33AC[2] | not provided [RCV001541005] | benign | 15 | 58561014 | 58561015 | Human | | name |
| 11662657 | CV339564 | microsatellite | NM_000236.3(LIPC):c.1052-13TC[6] | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000388344]|LIPC-related disorder [RCV003930365]|not provided [RCV003765842] | likely benign|uncertain significance | 15 | 58560850 | 58560851 | Human | | name , trait , alternate_id |
| 405228417 | CV3142955 | single nucleotide variant | NM_000236.3(LIPC):c.5A>T (p.Asp2Val) | not provided [RCV003848298] | uncertain significance | 15 | 58432037 | 58432037 | Human | | name |
| 597940366 | CV3757226 | single nucleotide variant | NM_000236.3(LIPC):c.51T>C (p.Phe17=) | not provided [RCV005077411] | likely benign | 15 | 58432083 | 58432083 | Human | | name |
| 597938450 | CV3760106 | single nucleotide variant | NM_000236.3(LIPC):c.78C>T (p.Ser26=) | not provided [RCV005077030] | likely benign | 15 | 58432110 | 58432110 | Human | | name |
| 150331173 | CV1163338 | variation | NM_000236.3(LIPC):c.1068= (p.Phe356=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001527682] | pathogenic | 15 | 58560880 | 58560880 | Human | | name , alternate_id |
| 152087630 | CV1590074 | single nucleotide variant | NM_000236.3(LIPC):c.279C>T (p.Asp93=) | not provided [RCV002193850] | likely benign | 15 | 58541790 | 58541790 | Human | | name |
| 152097423 | CV1639649 | single nucleotide variant | NM_000236.3(LIPC):c.225C>T (p.Cys75=) | not provided [RCV002078538] | likely benign | 15 | 58538469 | 58538469 | Human | | name |
| 156436892 | CV1936710 | single nucleotide variant | NM_000236.3(LIPC):c.168A>G (p.Gly56=) | not provided [RCV003106416] | likely benign | 15 | 58538412 | 58538412 | Human | | name |
| 156193101 | CV2038062 | single nucleotide variant | NM_000236.3(LIPC):c.120A>G (p.Glu40=) | not provided [RCV002765974] | likely benign | 15 | 58538364 | 58538364 | Human | | name |
| 156347404 | CV2172754 | single nucleotide variant | NM_000236.3(LIPC):c.252G>A (p.Val84=) | not provided [RCV003030634] | uncertain significance | 15 | 58538496 | 58538496 | Human | | name |
| 405031561 | CV3012858 | single nucleotide variant | NM_000236.3(LIPC):c.12T>G (p.Ser4Arg) | not provided [RCV003695611] | uncertain significance | 15 | 58432044 | 58432044 | Human | | name |
| 405041112 | CV3063873 | single nucleotide variant | NM_000236.3(LIPC):c.273G>A (p.Ser91=) | not provided [RCV003739860] | uncertain significance | 15 | 58538517 | 58538517 | Human | | name |
| 11621635 | CV339537 | single nucleotide variant | NM_000236.3(LIPC):c.264C>T (p.His88=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000350577]|not provided [RCV000957280] | benign|likely benign | 15 | 58538508 | 58538508 | Human | 1 | name , alternate_id |
| 15127960 | CV714509 | single nucleotide variant | NM_000236.3(LIPC):c.213G>A (p.Thr71=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119415]|LIPC-related disorder [RCV003935976]|not provided [RCV000963999] | benign|likely benign | 15 | 58538457 | 58538457 | Human | 1 | name , trait , alternate_id |
| 28886707 | CV873916 | single nucleotide variant | NM_000236.3(LIPC):c.132G>A (p.Thr44=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119413] | uncertain significance | 15 | 58538376 | 58538376 | Human | 1 | name , alternate_id |
| 28886709 | CV873917 | single nucleotide variant | NM_000236.3(LIPC):c.207G>A (p.Pro69=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119414]|not provided [RCV003718339] | likely benign|uncertain significance | 15 | 58538451 | 58538451 | Human | 1 | name , alternate_id |
| 150489744 | CV1274506 | single nucleotide variant | NM_000236.3(LIPC):c.969G>A (p.Thr323=) | not provided [RCV001700539] | likely benign | 15 | 58548490 | 58548490 | Human | | name |
| 152135094 | CV1560281 | single nucleotide variant | NM_000236.3(LIPC):c.756T>C (p.Pro252=) | not provided [RCV002137432] | likely benign | 15 | 58545923 | 58545923 | Human | | name |
| 152158396 | CV1630748 | duplication | NM_000236.3(LIPC):c.1169+21_1169+22dup | not provided [RCV002122764] | benign | 15 | 58560998 | 58560999 | Human | | name |
| 152032751 | CV1643172 | single nucleotide variant | NM_000236.3(LIPC):c.480C>T (p.Ser160=) | not provided [RCV002205039] | likely benign | 15 | 58542557 | 58542557 | Human | | name |
| 152163281 | CV1646408 | single nucleotide variant | NM_000236.3(LIPC):c.381C>T (p.His127=) | not provided [RCV002160024] | likely benign | 15 | 58541892 | 58541892 | Human | | name |
| 156416387 | CV1905071 | single nucleotide variant | NM_000236.3(LIPC):c.95T>G (p.Phe32Cys) | not provided [RCV002610150] | uncertain significance | 15 | 58538339 | 58538339 | Human | | name |
| 156365226 | CV2105931 | single nucleotide variant | NM_000236.3(LIPC):c.531C>T (p.Ala177=) | not provided [RCV002941908] | likely benign | 15 | 58542608 | 58542608 | Human | | name |
| 405217965 | CV2873500 | single nucleotide variant | NM_000236.3(LIPC):c.798C>T (p.His266=) | not provided [RCV003553409] | likely benign | 15 | 58545965 | 58545965 | Human | | name |
| 405064409 | CV2878953 | single nucleotide variant | NM_000236.3(LIPC):c.903G>A (p.Pro301=) | not provided [RCV003548134] | likely benign | 15 | 58548424 | 58548424 | Human | | name |
| 402489716 | CV2984439 | single nucleotide variant | NM_000236.3(LIPC):c.399C>A (p.Ala133=) | not provided [RCV003713610] | likely benign | 15 | 58541910 | 58541910 | Human | | name |
| 405203733 | CV3052855 | single nucleotide variant | NM_000236.3(LIPC):c.399C>T (p.Ala133=) | not provided [RCV003730999] | likely benign | 15 | 58541910 | 58541910 | Human | | name |
| 405137296 | CV3115746 | single nucleotide variant | NM_000236.3(LIPC):c.876C>T (p.His292=) | not provided [RCV003816403] | likely benign | 15 | 58548397 | 58548397 | Human | | name |
| 405103188 | CV3119575 | single nucleotide variant | NM_000236.3(LIPC):c.78C>G (p.Ser26Arg) | not provided [RCV003811837] | uncertain significance | 15 | 58432110 | 58432110 | Human | | name |
| 405207903 | CV3120471 | single nucleotide variant | NM_000236.3(LIPC):c.396C>T (p.Ile132=) | not provided [RCV003822805] | likely benign | 15 | 58541907 | 58541907 | Human | | name |
| 404985033 | CV3121721 | single nucleotide variant | NM_000236.3(LIPC):c.543C>T (p.Ile181=) | not provided [RCV003826520] | likely benign | 15 | 58542620 | 58542620 | Human | | name |
| 405033908 | CV3130370 | single nucleotide variant | NM_000236.3(LIPC):c.498G>C (p.Gly166=) | not provided [RCV003830777] | likely benign | 15 | 58542575 | 58542575 | Human | | name |
| 402471617 | CV3171604 | single nucleotide variant | NM_000236.3(LIPC):c.997C>A (p.Arg333=) | not provided [RCV003874388] | likely benign | 15 | 58548518 | 58548518 | Human | | name |
| 405285692 | CV3209671 | single nucleotide variant | NM_000236.3(LIPC):c.693C>T (p.Ser231=) | LIPC-related disorder [RCV003959247] | likely benign | 15 | 58545860 | 58545860 | Human | | name , trait , alternate_id |
| 11603726 | CV323001 | single nucleotide variant | NM_000236.3(LIPC):c.465G>T (p.Val155=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000302701]|not provided [RCV001597078]|not specified [RCV001699449] | benign | 15 | 58542542 | 58542542 | Human | 6 | name , alternate_id |
| 11603726 | CV323001 | single nucleotide variant | NM_000236.3(LIPC):c.465G>T (p.Val155=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000302701]|not provided [RCV001597078]|not specified [RCV001699449] | benign | 15 | 58542542 | 58542543 | Human | 6 | name , alternate_id |
| 11605365 | CV323007 | single nucleotide variant | NM_000236.3(LIPC):c.672C>G (p.Thr224=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000318628]|not provided [RCV001636896]|not specified [RCV001700055] | benign | 15 | 58545839 | 58545839 | Human | 1 | name , alternate_id |
| 405809120 | CV3287412 | single nucleotide variant | NM_000236.3(LIPC):c.34T>G (p.Leu12Val) | not specified [RCV004407374] | uncertain significance | 15 | 58432066 | 58432066 | Human | | name |
| 11621893 | CV332619 | single nucleotide variant | NM_000236.3(LIPC):c.591A>G (p.Gly197=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000353905]|not provided [RCV001613016] | benign | 15 | 58545758 | 58545758 | Human | 1 | name , alternate_id |
| 11614044 | CV339560 | single nucleotide variant | NM_000236.3(LIPC):c.867C>T (p.Ser289=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000274022] | uncertain significance | 15 | 58548388 | 58548388 | Human | 1 | name , alternate_id |
| 11617629 | CV340963 | single nucleotide variant | NM_000236.3(LIPC):c.588G>A (p.Ala196=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000306154]|not provided [RCV002061187] | benign|uncertain significance | 15 | 58545755 | 58545755 | Human | 1 | name , alternate_id |
| 597918969 | CV3737908 | single nucleotide variant | NM_000236.3(LIPC):c.744C>T (p.Gly248=) | not provided [RCV005074507] | likely benign | 15 | 58545911 | 58545911 | Human | | name |
| 597956769 | CV3754721 | single nucleotide variant | NM_000236.3(LIPC):c.62G>C (p.Ser21Thr) | not provided [RCV005080571] | uncertain significance | 15 | 58432094 | 58432094 | Human | | name |
| 597942749 | CV3786299 | single nucleotide variant | NM_000236.3(LIPC):c.984C>T (p.Val328=) | not provided [RCV005133990] | likely benign | 15 | 58548505 | 58548505 | Human | | name |
| 597900091 | CV3796396 | single nucleotide variant | NM_000236.3(LIPC):c.516C>T (p.His172=) | not provided [RCV005152479] | likely benign | 15 | 58542593 | 58542593 | Human | | name |
| 597938740 | CV3808305 | single nucleotide variant | NM_000236.3(LIPC):c.723T>C (p.Tyr241=) | not provided [RCV005158493] | likely benign | 15 | 58545890 | 58545890 | Human | | name |
| 597968459 | CV3820922 | single nucleotide variant | NM_000236.3(LIPC):c.321G>A (p.Leu107=) | not provided [RCV005165763] | likely benign | 15 | 58541832 | 58541832 | Human | | name |
| 597946244 | CV3841608 | single nucleotide variant | NM_000236.3(LIPC):c.846G>T (p.Ser282=) | not provided [RCV005189041] | likely benign | 15 | 58548367 | 58548367 | Human | | name |
| 597920105 | CV3842689 | single nucleotide variant | NM_000236.3(LIPC):c.996G>A (p.Pro332=) | not provided [RCV005184174] | likely benign | 15 | 58548517 | 58548517 | Human | | name |
| 597961334 | CV3844104 | single nucleotide variant | NM_000236.3(LIPC):c.432C>T (p.Val144=) | not provided [RCV005192951] | likely benign | 15 | 58541943 | 58541943 | Human | | name |
| 15174321 | CV739703 | single nucleotide variant | NM_000236.3(LIPC):c.318G>A (p.Ala106=) | not provided [RCV000905941] | likely benign | 15 | 58541829 | 58541829 | Human | | name |
| 15194730 | CV754559 | single nucleotide variant | NM_000236.3(LIPC):c.333G>A (p.Pro111=) | not provided [RCV000911207] | benign | 15 | 58541844 | 58541844 | Human | | name |
| 28886700 | CV873915 | single nucleotide variant | NM_000236.3(LIPC):c.67C>T (p.Leu23Phe) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119411]|not provided [RCV002556546] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 58432099 | 58432099 | Human | 1 | name , alternate_id |
| 28881843 | CV873921 | single nucleotide variant | NM_000236.3(LIPC):c.837C>T (p.His279=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001117956]|not provided [RCV001732048] | benign|likely benign | 15 | 58548358 | 58548358 | Human | 1 | name , alternate_id |
| 28881850 | CV873923 | single nucleotide variant | NM_000236.3(LIPC):c.981C>T (p.His327=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001117958]|not provided [RCV001727840]|not specified [RCV001700697] | benign|likely benign | 15 | 58548502 | 58548502 | Human | 1 | name , alternate_id |
| 151719487 | CV1397604 | single nucleotide variant | NM_000236.3(LIPC):c.193C>T (p.Arg65Ter) | Type 2 diabetes mellitus [RCV003401945]|not provided [RCV001982841] | likely pathogenic|uncertain significance | 15 | 58538437 | 58538437 | Human | 3 | name |
| 156439085 | CV1943953 | single nucleotide variant | NM_000236.3(LIPC):c.143T>G (p.Met48Arg) | not provided [RCV003109038]|not specified [RCV004244574] | uncertain significance | 15 | 58538387 | 58538387 | Human | | name |
| 156243263 | CV1981572 | single nucleotide variant | NM_000236.3(LIPC):c.1425A>G (p.Leu475=) | not provided [RCV002645648] | likely benign | 15 | 58568752 | 58568752 | Human | | name |
| 156127568 | CV2112415 | single nucleotide variant | NM_000236.3(LIPC):c.262C>T (p.His88Tyr) | not provided [RCV002928067] | uncertain significance | 15 | 58538506 | 58538506 | Human | | name |
| 156367106 | CV2116761 | single nucleotide variant | NM_000236.3(LIPC):c.142A>G (p.Met48Val) | not provided [RCV002942035] | uncertain significance | 15 | 58538386 | 58538386 | Human | | name |
| 156311786 | CV2120060 | single nucleotide variant | NM_000236.3(LIPC):c.280G>A (p.Gly94Ser) | not provided [RCV002962663] | uncertain significance | 15 | 58541791 | 58541791 | Human | | name |
| 156074723 | CV2198042 | single nucleotide variant | NM_000236.3(LIPC):c.272C>T (p.Ser91Leu) | not specified [RCV004079645] | uncertain significance | 15 | 58538516 | 58538516 | Human | | name |
| 155931672 | CV2370983 | single nucleotide variant | NM_000236.3(LIPC):c.226G>T (p.Gly76Cys) | not specified [RCV004218708] | uncertain significance | 15 | 58538470 | 58538470 | Human | | name |
| 401913435 | CV2830387 | single nucleotide variant | NM_000236.3(LIPC):c.209A>G (p.Asp70Gly) | not provided [RCV003441602] | uncertain significance | 15 | 58538453 | 58538453 | Human | | name |
| 405083800 | CV2864994 | single nucleotide variant | NM_000236.3(LIPC):c.196A>G (p.Ile66Val) | not provided [RCV003549359] | uncertain significance | 15 | 58538440 | 58538440 | Human | | name |
| 402502754 | CV2869406 | single nucleotide variant | NM_000236.3(LIPC):c.1023C>T (p.Leu341=) | not provided [RCV003546077] | likely benign | 15 | 58548544 | 58548544 | Human | | name |
| 405126598 | CV2958396 | single nucleotide variant | NM_000236.3(LIPC):c.107C>A (p.Ala36Asp) | not provided [RCV003667909] | uncertain significance | 15 | 58538351 | 58538351 | Human | | name |
| 405053192 | CV3022195 | single nucleotide variant | NM_000236.3(LIPC):c.1131C>T (p.Leu377=) | not provided [RCV003697096] | likely benign | 15 | 58560943 | 58560943 | Human | | name |
| 405174963 | CV3052635 | single nucleotide variant | NM_000236.3(LIPC):c.283G>T (p.Val95Leu) | not provided [RCV003728234] | uncertain significance | 15 | 58541794 | 58541794 | Human | | name |
| 405199243 | CV3056639 | single nucleotide variant | NM_000236.3(LIPC):c.165T>G (p.Phe55Leu) | not provided [RCV003730611] | uncertain significance | 15 | 58538409 | 58538409 | Human | | name |
| 405216823 | CV3124651 | single nucleotide variant | NM_000236.3(LIPC):c.1383G>A (p.Gln461=) | not provided [RCV003824013] | likely benign | 15 | 58563718 | 58563718 | Human | | name |
| 405221027 | CV3157855 | single nucleotide variant | NM_000236.3(LIPC):c.1047C>T (p.Phe349=) | not provided [RCV003863547] | likely benign | 15 | 58548568 | 58548568 | Human | | name |
| 11607251 | CV323017 | single nucleotide variant | NM_000236.3(LIPC):c.1233C>T (p.Gly411=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000341365]|not provided [RCV001574662] | benign|likely benign|uncertain significance | 15 | 58563568 | 58563568 | Human | 1 | name , alternate_id |
| 11611299 | CV323020 | single nucleotide variant | NM_000236.3(LIPC):c.1341C>T (p.Gly447=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000393231] | uncertain significance | 15 | 58563676 | 58563676 | Human | 1 | name , alternate_id |
| 405809116 | CV3287410 | single nucleotide variant | NM_000236.3(LIPC):c.137A>G (p.His46Arg) | not specified [RCV004407372] | uncertain significance | 15 | 58538381 | 58538381 | Human | | name |
| 11625293 | CV339544 | single nucleotide variant | NM_000236.3(LIPC):c.283G>A (p.Val95Met) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000397361]|not provided [RCV001598652] | benign | 15 | 58541794 | 58541794 | Human | 7 | name , alternate_id |
| 11625293 | CV339544 | single nucleotide variant | NM_000236.3(LIPC):c.283G>A (p.Val95Met) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000397361]|not provided [RCV001598652] | benign | 15 | 58541794 | 58541795 | Human | 7 | name , alternate_id |
| 11615918 | CV339577 | single nucleotide variant | NM_000236.3(LIPC):c.1098A>G (p.Thr366=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000289995]|not provided [RCV001672513]|not specified [RCV001699450] | benign | 15 | 58560910 | 58560910 | Human | 1 | name , alternate_id |
| 11626019 | CV339578 | single nucleotide variant | NM_000236.3(LIPC):c.1203C>T (p.Ser401=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000406024]|LIPC-related disorder [RCV003957637]|not provided [RCV002520968] | likely benign|uncertain significance | 15 | 58563538 | 58563538 | Human | 1 | name , trait , alternate_id |
| 11616293 | CV340947 | single nucleotide variant | NM_000236.3(LIPC):c.206C>T (p.Pro69Leu) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000293436]|not provided [RCV002520967] | uncertain significance | 15 | 58538450 | 58538450 | Human | 1 | name , alternate_id |
| 11621979 | CV340970 | single nucleotide variant | NM_000236.3(LIPC):c.1437C>A (p.Thr479=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000354550]|not provided [RCV001672514] | benign | 15 | 58568764 | 58568764 | Human | 1 | name , alternate_id |
| 407492925 | CV3449096 | single nucleotide variant | NM_000236.3(LIPC):c.107C>T (p.Ala36Val) | not specified [RCV004642614] | likely benign | 15 | 58538351 | 58538351 | Human | | name |
| 597942857 | CV3816337 | single nucleotide variant | NM_000236.3(LIPC):c.266G>T (p.Gly89Val) | not provided [RCV005159398] | uncertain significance | 15 | 58538510 | 58538510 | Human | | name |
| 597886636 | CV3842371 | single nucleotide variant | NM_000236.3(LIPC):c.138T>A (p.His46Gln) | not provided [RCV005179006] | uncertain significance | 15 | 58538382 | 58538382 | Human | | name |
| 13485711 | CV445393 | duplication | NM_000236.3(LIPC):c.759dup (p.Cys254fs) | not provided [RCV000522684] | uncertain significance | 15 | 58545925 | 58545926 | Human | | name |
| 15109925 | CV714510 | single nucleotide variant | NM_000236.3(LIPC):c.1296G>A (p.Thr432=) | not provided [RCV000960798] | benign | 15 | 58563631 | 58563631 | Human | | name |
| 15152412 | CV739704 | single nucleotide variant | NM_000236.3(LIPC):c.1437C>G (p.Thr479=) | not provided [RCV000901560] | likely benign | 15 | 58568764 | 58568764 | Human | | name |
| 28887008 | CV873925 | single nucleotide variant | NM_000236.3(LIPC):c.1029G>A (p.Thr343=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001119501]|not provided [RCV005093541] | benign|likely benign | 15 | 58548550 | 58548550 | Human | 1 | name , alternate_id |
| 28892881 | CV873926 | single nucleotide variant | NM_000236.3(LIPC):c.1170G>A (p.Leu390=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121498] | uncertain significance | 15 | 58563505 | 58563505 | Human | 1 | name , alternate_id |
| 28892885 | CV873927 | single nucleotide variant | NM_000236.3(LIPC):c.1215G>T (p.Thr405=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121499] | uncertain significance | 15 | 58563550 | 58563550 | Human | 1 | name , alternate_id |
| 28877563 | CV873930 | single nucleotide variant | NM_000236.3(LIPC):c.1314A>G (p.Pro438=) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116613]|not provided [RCV001593278] | benign|likely benign | 15 | 58563649 | 58563649 | Human | 1 | name , alternate_id |
| 126743310 | CV1021339 | single nucleotide variant | NM_000236.3(LIPC):c.845C>A (p.Ser282Ter) | Hepatic lipase deficiency [RCV001336742] | pathogenic | 15 | 58548366 | 58548366 | Human | | name , alternate_id |
| 126743301 | CV1021340 | deletion | NM_000236.3(LIPC):c.1014del (p.Arg338fs) | LIPC-related disorder [RCV004759003] | pathogenic|uncertain significance | 15 | 58548534 | 58548534 | Human | | name , trait , alternate_id |
| 126912953 | CV1038340 | single nucleotide variant | NM_000236.3(LIPC):c.775C>T (p.Leu259Phe) | not provided [RCV001356934] | uncertain significance | 15 | 58545942 | 58545942 | Human | | name |
| 150436285 | CV1270936 | deletion | NM_000236.3(LIPC):c.1052-210_1052-191del | not provided [RCV001689486] | benign | 15 | 58560651 | 58560670 | Human | | name |
| 150490699 | CV1274431 | single nucleotide variant | NM_000236.3(LIPC):c.623G>A (p.Arg208His) | not provided [RCV001700875] | likely pathogenic | 15 | 58545790 | 58545790 | Human | | name |
| 150490188 | CV1274726 | single nucleotide variant | NM_000236.3(LIPC):c.968C>T (p.Thr323Met) | not provided [RCV001700664] | uncertain significance | 15 | 58548489 | 58548489 | Human | | name |
| 150540645 | CV1296032 | single nucleotide variant | NM_000236.3(LIPC):c.815C>T (p.Thr272Ile) | not provided [RCV001760501] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 58548336 | 58548336 | Human | | name |
| 150546091 | CV1297128 | single nucleotide variant | NM_000236.3(LIPC):c.731A>G (p.Tyr244Cys) | not provided [RCV001763419] | uncertain significance | 15 | 58545898 | 58545898 | Human | | name |
| 151661968 | CV1332823 | single nucleotide variant | NM_000236.3(LIPC):c.686G>T (p.Gly229Val) | HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 [RCV001837070] | uncertain significance | 15 | 58545853 | 58545853 | Human | | name |
| 151891252 | CV1346972 | single nucleotide variant | NM_000236.3(LIPC):c.985C>T (p.Arg329Cys) | not provided [RCV002039058] | uncertain significance | 15 | 58548506 | 58548506 | Human | | name |
| 151844880 | CV1363520 | single nucleotide variant | NM_000236.3(LIPC):c.374T>C (p.Leu125Pro) | not provided [RCV002032268] | uncertain significance | 15 | 58541885 | 58541885 | Human | | name |
| 151849506 | CV1368416 | single nucleotide variant | NM_000236.3(LIPC):c.382G>T (p.Asp128Tyr) | not provided [RCV001978734] | uncertain significance | 15 | 58541893 | 58541893 | Human | | name |
| 151865394 | CV1455977 | single nucleotide variant | NM_000236.3(LIPC):c.685G>A (p.Gly229Ser) | not provided [RCV002034991] | uncertain significance | 15 | 58545852 | 58545852 | Human | | name |
| 152035319 | CV1670126 | single nucleotide variant | NM_000236.3(LIPC):c.674G>A (p.Arg225Gln) | Type 2 diabetes mellitus [RCV003336506]|not provided [RCV002223660]|not specified [RCV004631980] | uncertain significance | 15 | 58545841 | 58545841 | Human | 3 | name , alternate_id |
| 155267803 | CV1701364 | single nucleotide variant | NM_000236.3(LIPC):c.748T>C (p.Phe250Leu) | Abnormal circulating lipid concentration [RCV002283591] | likely pathogenic | 15 | 58545915 | 58545915 | Human | 1 | name |
| 155801018 | CV1861160 | single nucleotide variant | NM_000236.3(LIPC):c.517G>A (p.Val173Met) | High density lipoprotein cholesterol level quantitative trait locus 12 [RCV002468875] | uncertain significance | 15 | 58542594 | 58542594 | Human | | name |
| 156341963 | CV1871330 | single nucleotide variant | NM_000236.3(LIPC):c.586G>A (p.Ala196Thr) | not provided [RCV003064284] | uncertain significance | 15 | 58545753 | 58545753 | Human | | name |
| 156060227 | CV1892320 | single nucleotide variant | NM_000236.3(LIPC):c.433G>A (p.Ala145Thr) | not provided [RCV003079198] | likely benign | 15 | 58541944 | 58541944 | Human | | name |
| 156025218 | CV1917516 | single nucleotide variant | NM_000236.3(LIPC):c.842G>A (p.Arg281Gln) | not provided [RCV002619596] | uncertain significance | 15 | 58548363 | 58548363 | Human | | name |
| 156415491 | CV1958586 | single nucleotide variant | NM_000236.3(LIPC):c.544G>A (p.Gly182Ser) | not provided [RCV002589198] | uncertain significance | 15 | 58542621 | 58542621 | Human | | name |
| 156117913 | CV2017231 | single nucleotide variant | NM_000236.3(LIPC):c.559A>T (p.Ile187Phe) | not provided [RCV002740086]|not specified [RCV005356182] | uncertain significance | 15 | 58542636 | 58542636 | Human | | name |
| 155999826 | CV2106693 | single nucleotide variant | NM_000236.3(LIPC):c.404G>A (p.Arg135His) | not provided [RCV002947733]|not specified [RCV004067231] | uncertain significance | 15 | 58541915 | 58541915 | Human | | name |
| 155905657 | CV2134509 | single nucleotide variant | NM_000236.3(LIPC):c.982G>A (p.Val328Ile) | not provided [RCV002967694] | uncertain significance | 15 | 58548503 | 58548503 | Human | | name |
| 156029765 | CV2206102 | single nucleotide variant | NM_000236.3(LIPC):c.308T>C (p.Met103Thr) | not specified [RCV004078511] | uncertain significance | 15 | 58541819 | 58541819 | Human | | name |
| 156069934 | CV2237164 | single nucleotide variant | NM_000236.3(LIPC):c.532G>A (p.Gly178Ser) | not specified [RCV004114907] | uncertain significance | 15 | 58542609 | 58542609 | Human | | name |
| 156121678 | CV2276031 | single nucleotide variant | NM_000236.3(LIPC):c.962G>T (p.Cys321Phe) | not specified [RCV004141708] | uncertain significance | 15 | 58548483 | 58548483 | Human | | name |
| 156247794 | CV2276916 | single nucleotide variant | NM_000236.3(LIPC):c.997C>T (p.Arg333Trp) | not specified [RCV004140255] | uncertain significance | 15 | 58548518 | 58548518 | Human | | name |
| 156288650 | CV2309584 | single nucleotide variant | NM_000236.3(LIPC):c.652G>C (p.Asp218His) | not specified [RCV004158963] | uncertain significance | 15 | 58545819 | 58545819 | Human | | name |
| 156347917 | CV2312493 | single nucleotide variant | NM_000236.3(LIPC):c.871C>A (p.Leu291Met) | not specified [RCV004167455] | uncertain significance | 15 | 58548392 | 58548392 | Human | | name |
| 156292585 | CV2340197 | single nucleotide variant | NM_000236.3(LIPC):c.551C>T (p.Thr184Met) | not provided [RCV003546929]|not specified [RCV004192430] | uncertain significance | 15 | 58542628 | 58542628 | Human | | name |
| 156256338 | CV2359620 | single nucleotide variant | NM_000236.3(LIPC):c.497G>C (p.Gly166Ala) | not specified [RCV004214915] | uncertain significance | 15 | 58542574 | 58542574 | Human | | name |
| 156051962 | CV2386520 | single nucleotide variant | NM_000236.3(LIPC):c.768C>A (p.Phe256Leu) | not specified [RCV004230877] | uncertain significance | 15 | 58545935 | 58545935 | Human | | name |
| 156154795 | CV2388739 | single nucleotide variant | NM_000236.3(LIPC):c.554A>G (p.His185Arg) | not provided [RCV005060917]|not specified [RCV004239606] | likely benign|uncertain significance | 15 | 58542631 | 58542631 | Human | | name |
| 329847267 | CV2534434 | single nucleotide variant | NM_000236.3(LIPC):c.377C>A (p.Ala126Asp) | Type 2 diabetes mellitus [RCV003228642] | uncertain significance | 15 | 58541888 | 58541888 | Human | 3 | name , alternate_id |
| 329847276 | CV2534444 | single nucleotide variant | NM_000236.3(LIPC):c.353G>A (p.Gly118Glu) | Type 2 diabetes mellitus [RCV003228653] | uncertain significance | 15 | 58541864 | 58541864 | Human | 3 | name , alternate_id |
| 401725012 | CV2697244 | single nucleotide variant | NM_000236.3(LIPC):c.958C>G (p.Arg320Gly) | not provided [RCV005102561]|not specified [RCV004304011] | uncertain significance | 15 | 58548479 | 58548479 | Human | | name |
| 401761502 | CV2699327 | single nucleotide variant | NM_000236.3(LIPC):c.746C>T (p.Ser249Phe) | not specified [RCV004305921] | uncertain significance | 15 | 58545913 | 58545913 | Human | | name |
| 401771624 | CV2711794 | single nucleotide variant | NM_000236.3(LIPC):c.910G>C (p.Asp304His) | not specified [RCV004309438] | uncertain significance | 15 | 58548431 | 58548431 | Human | | name |
| 401754469 | CV2722708 | single nucleotide variant | NM_000236.3(LIPC):c.412C>T (p.Arg138Cys) | not specified [RCV004325146] | uncertain significance | 15 | 58541923 | 58541923 | Human | | name |
| 401870866 | CV2762965 | single nucleotide variant | NM_000236.3(LIPC):c.349G>A (p.Val117Met) | not specified [RCV004342713] | uncertain significance | 15 | 58541860 | 58541860 | Human | | name |
| 401895748 | CV2770995 | single nucleotide variant | NM_000236.3(LIPC):c.340C>A (p.Pro114Thr) | not specified [RCV004344012] | uncertain significance | 15 | 58541851 | 58541851 | Human | | name |
| 405211339 | CV2868038 | single nucleotide variant | NM_000236.3(LIPC):c.618C>A (p.Ser206Arg) | not provided [RCV003552643]|not specified [RCV004369013] | uncertain significance | 15 | 58545785 | 58545785 | Human | | name |
| 405224709 | CV2887709 | single nucleotide variant | NM_000236.3(LIPC):c.410C>A (p.Thr137Asn) | not provided [RCV003554381] | uncertain significance | 15 | 58541921 | 58541921 | Human | | name |
| 405123989 | CV2889473 | single nucleotide variant | NM_000236.3(LIPC):c.799G>T (p.Gly267Cys) | not provided [RCV003559391] | uncertain significance | 15 | 58545966 | 58545966 | Human | | name |
| 8564243 | CV29491 | single nucleotide variant | NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000015537]|not provided [RCV002054443] | pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 58548387 | 58548387 | Human | 23 | name , alternate_id |
| 405230933 | CV2964315 | single nucleotide variant | NM_000236.3(LIPC):c.914T>G (p.Met305Arg) | not provided [RCV003682122] | uncertain significance | 15 | 58548435 | 58548435 | Human | | name |
| 402515285 | CV2992049 | single nucleotide variant | NM_000236.3(LIPC):c.926G>A (p.Ser309Asn) | not provided [RCV003689880] | uncertain significance | 15 | 58548447 | 58548447 | Human | | name |
| 405129596 | CV3010796 | single nucleotide variant | NM_000236.3(LIPC):c.937T>C (p.Cys313Arg) | not provided [RCV003701553] | uncertain significance | 15 | 58548458 | 58548458 | Human | | name |
| 405124191 | CV3043277 | single nucleotide variant | NM_000236.3(LIPC):c.332C>T (p.Pro111Leu) | not provided [RCV003724198] | uncertain significance | 15 | 58541843 | 58541843 | Human | | name |
| 405137565 | CV3048581 | single nucleotide variant | NM_000236.3(LIPC):c.915G>C (p.Met305Ile) | not provided [RCV003725365]|not specified [RCV004374072] | uncertain significance | 15 | 58548436 | 58548436 | Human | | name |
| 405175460 | CV3049296 | single nucleotide variant | NM_000236.3(LIPC):c.959G>T (p.Arg320Leu) | not provided [RCV003728300] | uncertain significance | 15 | 58548480 | 58548480 | Human | | name |
| 405251140 | CV3049682 | single nucleotide variant | NM_000236.3(LIPC):c.880G>A (p.Gly294Ser) | not provided [RCV003721818] | uncertain significance | 15 | 58548401 | 58548401 | Human | | name |
| 405250851 | CV3053178 | single nucleotide variant | NM_000236.3(LIPC):c.434C>T (p.Ala145Val) | not provided [RCV003721736] | uncertain significance | 15 | 58541945 | 58541945 | Human | | name |
| 405146508 | CV3141467 | single nucleotide variant | NM_000236.3(LIPC):c.806A>G (p.Asn269Ser) | not provided [RCV003839584] | uncertain significance | 15 | 58545973 | 58545973 | Human | | name |
| 405222753 | CV3154982 | single nucleotide variant | NM_000236.3(LIPC):c.587C>T (p.Ala196Val) | not provided [RCV003847478] | uncertain significance | 15 | 58545754 | 58545754 | Human | | name |
| 11608549 | CV323011 | single nucleotide variant | NM_000236.3(LIPC):c.739G>A (p.Gly247Arg) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000356967]|Type 2 diabetes mellitus [RCV005396955]|not provided [RCV003765841] | uncertain significance | 15 | 58545906 | 58545906 | Human | 4 | name , alternate_id |
| 405809122 | CV3287413 | single nucleotide variant | NM_000236.3(LIPC):c.536G>A (p.Ser179Asn) | not specified [RCV004407375] | uncertain significance | 15 | 58542613 | 58542613 | Human | | name |
| 405809125 | CV3287414 | single nucleotide variant | NM_000236.3(LIPC):c.929A>G (p.Gln310Arg) | not specified [RCV004407376] | uncertain significance | 15 | 58548450 | 58548450 | Human | | name |
| 11615889 | CV332614 | single nucleotide variant | NM_000236.3(LIPC):c.316G>A (p.Ala106Thr) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000289680] | uncertain significance | 15 | 58541827 | 58541827 | Human | 1 | name , alternate_id |
| 11619963 | CV332620 | single nucleotide variant | NM_000236.3(LIPC):c.998G>A (p.Arg333Gln) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000331532]|not provided [RCV001850675] | uncertain significance | 15 | 58548519 | 58548519 | Human | 1 | name , alternate_id |
| 11625195 | CV339553 | single nucleotide variant | NM_000236.3(LIPC):c.461C>A (p.Ser154Tyr) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000395950] | uncertain significance | 15 | 58542538 | 58542538 | Human | 1 | name , alternate_id |
| 11621297 | CV340951 | single nucleotide variant | NM_000236.3(LIPC):c.317C>T (p.Ala106Val) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000346939]|not provided [RCV002522803] | uncertain significance | 15 | 58541828 | 58541828 | Human | 1 | name , alternate_id |
| 11612606 | CV340965 | single nucleotide variant | NM_000236.3(LIPC):c.644A>G (p.Asn215Ser) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000261063]|not provided [RCV001723903]|not specified [RCV001699360] | benign | 15 | 58545811 | 58545811 | Human | 1 | name , alternate_id |
| 407492920 | CV3449095 | single nucleotide variant | NM_000236.3(LIPC):c.376G>A (p.Ala126Thr) | not specified [RCV004642613] | uncertain significance | 15 | 58541887 | 58541887 | Human | | name |
| 596927666 | CV3541172 | single nucleotide variant | NM_000236.3(LIPC):c.757G>A (p.Gly253Ser) | Type 2 diabetes mellitus [RCV004797043] | uncertain significance | 15 | 58545924 | 58545924 | Human | 3 | name |
| 597643454 | CV3693103 | single nucleotide variant | NM_000236.3(LIPC):c.749T>G (p.Phe250Cys) | not specified [RCV004942037] | uncertain significance | 15 | 58545916 | 58545916 | Human | | name |
| 597643460 | CV3693105 | single nucleotide variant | NM_000236.3(LIPC):c.325T>A (p.Ser109Thr) | not specified [RCV004942038] | uncertain significance | 15 | 58541836 | 58541836 | Human | | name |
| 597643466 | CV3693106 | single nucleotide variant | NM_000236.3(LIPC):c.671C>A (p.Thr224Asn) | not specified [RCV004942039] | uncertain significance | 15 | 58545838 | 58545838 | Human | | name |
| 597643472 | CV3693107 | single nucleotide variant | NM_000236.3(LIPC):c.907G>C (p.Gly303Arg) | not specified [RCV004942040] | uncertain significance | 15 | 58548428 | 58548428 | Human | | name |
| 597834021 | CV3735736 | single nucleotide variant | NM_000236.3(LIPC):c.366G>A (p.Trp122Ter) | not provided [RCV005063599] | uncertain significance | 15 | 58541877 | 58541877 | Human | | name |
| 597864360 | CV3742177 | single nucleotide variant | NM_000236.3(LIPC):c.440T>C (p.Leu147Pro) | not provided [RCV005067793] | uncertain significance | 15 | 58541951 | 58541951 | Human | | name |
| 597841235 | CV3752797 | single nucleotide variant | NM_000236.3(LIPC):c.797A>G (p.His266Arg) | not provided [RCV005086526] | uncertain significance | 15 | 58545964 | 58545964 | Human | | name |
| 597950853 | CV3756336 | single nucleotide variant | NM_000236.3(LIPC):c.605G>C (p.Gly202Ala) | not provided [RCV005079393] | uncertain significance | 15 | 58545772 | 58545772 | Human | | name |
| 597856010 | CV3758738 | single nucleotide variant | NM_000236.3(LIPC):c.718C>T (p.His240Tyr) | not provided [RCV005088698] | uncertain significance | 15 | 58545885 | 58545885 | Human | | name |
| 597887336 | CV3839046 | single nucleotide variant | NM_000236.3(LIPC):c.830G>T (p.Cys277Phe) | not provided [RCV005179131] | uncertain significance | 15 | 58548351 | 58548351 | Human | | name |
| 597926350 | CV3840501 | single nucleotide variant | NM_000236.3(LIPC):c.694G>A (p.Val232Met) | not provided [RCV005184972] | uncertain significance | 15 | 58545861 | 58545861 | Human | | name |
| 8567914 | CV38731 | single nucleotide variant | NM_000236.3(LIPC):c.583G>A (p.Ala195Thr) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000022642] | pathogenic | 15 | 58545750 | 58545750 | Human | 1 | name , alternate_id |
| 598260882 | CV3980884 | single nucleotide variant | NM_000236.3(LIPC):c.800G>A (p.Gly267Asp) | not specified [RCV005347717] | uncertain significance | 15 | 58545967 | 58545967 | Human | | name |
| 598260887 | CV3980887 | single nucleotide variant | NM_000236.3(LIPC):c.553C>T (p.His185Tyr) | not specified [RCV005347718] | uncertain significance | 15 | 58542630 | 58542630 | Human | | name |
| 28892606 | CV873918 | single nucleotide variant | NM_000236.3(LIPC):c.314C>T (p.Ala105Val) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121403]|not provided [RCV003558683] | uncertain significance | 15 | 58541825 | 58541825 | Human | 1 | name , alternate_id |
| 28892608 | CV873919 | single nucleotide variant | NM_000236.3(LIPC):c.403C>T (p.Arg135Cys) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121404]|not provided [RCV001856599] | uncertain significance | 15 | 58541914 | 58541914 | Human | 1 | name , alternate_id |
| 28881841 | CV873920 | single nucleotide variant | NM_000236.3(LIPC):c.829T>C (p.Cys277Arg) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001117955] | uncertain significance | 15 | 58548350 | 58548350 | Human | 1 | name , alternate_id |
| 28881845 | CV873922 | single nucleotide variant | NM_000236.3(LIPC):c.947G>T (p.Cys316Phe) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001117957] | uncertain significance | 15 | 58548468 | 58548468 | Human | 1 | name , alternate_id |
| 28881854 | CV873924 | single nucleotide variant | NM_000236.3(LIPC):c.986G>A (p.Arg329His) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001117959]|not provided [RCV001856550] | uncertain significance | 15 | 58548507 | 58548507 | Human | 1 | name , alternate_id |
| 8635520 | CV90741 | single nucleotide variant | NM_000236.2(LIPC):c.382G>A (p.Asp128Asn) | Malignant melanoma [RCV000070839] | not provided | 15 | 58541893 | 58541893 | Human | | name |
| 38463248 | CV919584 | single nucleotide variant | NM_000236.3(LIPC):c.787A>G (p.Ile263Val) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001198926] | uncertain significance | 15 | 58545954 | 58545954 | Human | 1 | name , alternate_id |
| 151786779 | CV1395653 | single nucleotide variant | NM_000236.3(LIPC):c.1330C>T (p.Arg444Cys) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV004763303]|not provided [RCV002010270] | uncertain significance | 15 | 58563665 | 58563665 | Human | 1 | name , alternate_id |
| 151744843 | CV1460722 | single nucleotide variant | NM_000236.3(LIPC):c.1319G>A (p.Ser440Asn) | not provided [RCV001871396]|not specified [RCV004935224] | uncertain significance | 15 | 58563654 | 58563654 | Human | | name |
| 151787528 | CV1488713 | single nucleotide variant | NM_000236.3(LIPC):c.1331G>A (p.Arg444His) | not provided [RCV002010351]|not specified [RCV004935242] | likely benign|uncertain significance | 15 | 58563666 | 58563666 | Human | | name |
| 151757990 | CV1516366 | single nucleotide variant | NM_000236.3(LIPC):c.1453G>A (p.Val485Met) | not provided [RCV002043943] | uncertain significance | 15 | 58568780 | 58568780 | Human | | name |
| 155264923 | CV1704472 | single nucleotide variant | NM_000236.3(LIPC):c.1315T>A (p.Trp439Arg) | not provided [RCV002284688]|not specified [RCV004047575] | uncertain significance | 15 | 58563650 | 58563650 | Human | | name |
| 155950097 | CV1921890 | single nucleotide variant | NM_000236.3(LIPC):c.1238T>C (p.Leu413Pro) | not provided [RCV002616176] | likely benign | 15 | 58563573 | 58563573 | Human | | name |
| 156394016 | CV1930760 | single nucleotide variant | NM_000236.3(LIPC):c.1087C>A (p.Gln363Lys) | not provided [RCV002654692] | uncertain significance | 15 | 58560899 | 58560899 | Human | | name |
| 155983178 | CV2140643 | single nucleotide variant | NM_000236.3(LIPC):c.1328C>T (p.Pro443Leu) | not provided [RCV002996203]|not specified [RCV004068471] | uncertain significance | 15 | 58563663 | 58563663 | Human | | name |
| 155946256 | CV2238097 | single nucleotide variant | NM_000236.3(LIPC):c.1149G>A (p.Met383Ile) | not specified [RCV004111114] | uncertain significance | 15 | 58560961 | 58560961 | Human | | name |
| 155975962 | CV2270128 | single nucleotide variant | NM_000236.3(LIPC):c.1025T>A (p.Val342Glu) | not specified [RCV004129079] | uncertain significance | 15 | 58548546 | 58548546 | Human | | name |
| 155929739 | CV2278277 | single nucleotide variant | NM_000236.3(LIPC):c.1205T>C (p.Phe402Ser) | not specified [RCV004147585] | uncertain significance | 15 | 58563540 | 58563540 | Human | | name |
| 156087762 | CV2366421 | single nucleotide variant | NM_000236.3(LIPC):c.1222G>A (p.Val408Met) | not specified [RCV004212465] | uncertain significance | 15 | 58563557 | 58563557 | Human | | name |
| 329375530 | CV2468667 | single nucleotide variant | NM_000236.3(LIPC):c.1464A>C (p.Glu488Asp) | not specified [RCV004278212] | uncertain significance | 15 | 58568791 | 58568791 | Human | | name |
| 329847248 | CV2534414 | single nucleotide variant | NM_000236.3(LIPC):c.1024G>A (p.Val342Ile) | Type 2 diabetes mellitus [RCV003228622] | uncertain significance | 15 | 58548545 | 58548545 | Human | 3 | name , alternate_id |
| 329847282 | CV2534450 | single nucleotide variant | NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln) | Type 2 diabetes mellitus [RCV003228659] | uncertain significance | 15 | 58548552 | 58548552 | Human | 3 | name , alternate_id |
| 401774952 | CV2688344 | single nucleotide variant | NM_000236.3(LIPC):c.1440G>C (p.Gln480His) | not specified [RCV004299346] | uncertain significance | 15 | 58568767 | 58568767 | Human | | name |
| 401886023 | CV2771574 | single nucleotide variant | NM_000236.3(LIPC):c.1276T>A (p.Trp426Arg) | not specified [RCV004348596] | uncertain significance | 15 | 58563611 | 58563611 | Human | | name |
| 401904339 | CV2814163 | single nucleotide variant | NM_000236.3(LIPC):c.1418A>T (p.Asp473Val) | not provided [RCV003394878] | uncertain significance | 15 | 58568745 | 58568745 | Human | | name |
| 405221238 | CV2912860 | single nucleotide variant | NM_000236.3(LIPC):c.1231G>C (p.Gly411Arg) | not provided [RCV003568465] | uncertain significance | 15 | 58563566 | 58563566 | Human | | name |
| 402505851 | CV2927576 | single nucleotide variant | NM_000236.3(LIPC):c.1148T>C (p.Met383Thr) | not provided [RCV003574333] | uncertain significance | 15 | 58560960 | 58560960 | Human | | name |
| 8564242 | CV29490 | single nucleotide variant | NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000015536]|Type 1 diabetes mellitus 2 [RCV003227602]|Type 2 diabetes mellitus [RCV002247345]|Type 2 diabetes mellitus [RCV005394162]|not provided [RCV001610291]|not specified [RCV001449771] | pathogenic|likely pathogenic|benign|likely benign|uncertain significance | 15 | 58563549 | 58563549 | Human | 64 | name , alternate_id |
| 8564242 | CV29490 | single nucleotide variant | NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000015536]|Type 1 diabetes mellitus 2 [RCV003227602]|Type 2 diabetes mellitus [RCV002247345]|Type 2 diabetes mellitus [RCV005394162]|not provided [RCV001610291]|not specified [RCV001449771] | pathogenic|likely pathogenic|benign|likely benign|uncertain significance | 15 | 58563549 | 58563550 | Human | 64 | name , alternate_id |
| 405111831 | CV3118532 | single nucleotide variant | NM_000236.3(LIPC):c.1120A>G (p.Met374Val) | not provided [RCV003813760] | uncertain significance | 15 | 58560932 | 58560932 | Human | | name |
| 405057480 | CV3134891 | single nucleotide variant | NM_000236.3(LIPC):c.1129C>T (p.Leu377Phe) | not provided [RCV003832563] | uncertain significance | 15 | 58560941 | 58560941 | Human | | name |
| 11610462 | CV323013 | single nucleotide variant | NM_000236.3(LIPC):c.1068C>A (p.Phe356Leu) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000382130]|not provided [RCV001618558]|not specified [RCV001699361] | benign | 15 | 58560880 | 58560880 | Human | 1 | name , alternate_id |
| 405809114 | CV3287409 | single nucleotide variant | NM_000236.3(LIPC):c.1196C>T (p.Thr399Met) | not specified [RCV004407371] | uncertain significance | 15 | 58563531 | 58563531 | Human | | name |
| 405809118 | CV3287411 | single nucleotide variant | NM_000236.3(LIPC):c.1414G>A (p.Asp472Asn) | not specified [RCV004407373] | uncertain significance | 15 | 58568741 | 58568741 | Human | | name |
| 11619442 | CV339566 | single nucleotide variant | NM_000236.3(LIPC):c.1064A>G (p.Gln355Arg) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000325734]|LIPC-related disorder [RCV003972349]|Type 2 diabetes mellitus [RCV002504083]|not provided [RCV000884747] | benign|likely benign | 15 | 58560876 | 58560876 | Human | 4 | name , trait , alternate_id |
| 11615269 | CV339582 | single nucleotide variant | NM_000236.3(LIPC):c.1231G>A (p.Gly411Ser) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000283992] | uncertain significance | 15 | 58563566 | 58563566 | Human | 1 | name , alternate_id |
| 11616673 | CV340966 | single nucleotide variant | NM_000236.3(LIPC):c.1430G>A (p.Arg477His) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000296932]|not provided [RCV003556327] | uncertain significance | 15 | 58568757 | 58568757 | Human | 1 | name , alternate_id |
| 597796171 | CV3693104 | single nucleotide variant | NM_000236.3(LIPC):c.1292A>G (p.Asp431Gly) | not specified [RCV004935014] | uncertain significance | 15 | 58563627 | 58563627 | Human | | name |
| 597796076 | CV3693108 | single nucleotide variant | NM_000236.3(LIPC):c.1297G>A (p.Val433Ile) | not specified [RCV004935015] | uncertain significance | 15 | 58563632 | 58563632 | Human | | name |
| 597842888 | CV3752421 | single nucleotide variant | NM_000236.3(LIPC):c.1219G>A (p.Asp407Asn) | not provided [RCV005086827] | uncertain significance | 15 | 58563554 | 58563554 | Human | | name |
| 597850890 | CV3803697 | single nucleotide variant | NM_000236.3(LIPC):c.1331G>C (p.Arg444Pro) | not provided [RCV005145414] | uncertain significance | 15 | 58563666 | 58563666 | Human | | name |
| 597896687 | CV3806713 | indel | NM_000236.3(LIPC):c.808+19_808+20delinsAA | not provided [RCV005152100] | uncertain significance | 15 | 58545994 | 58545995 | Human | | name |
| 597839023 | CV3824878 | single nucleotide variant | NM_000236.3(LIPC):c.1400G>T (p.Cys467Phe) | not provided [RCV005171742] | uncertain significance | 15 | 58568727 | 58568727 | Human | | name |
| 597925146 | CV3863429 | single nucleotide variant | NM_000236.3(LIPC):c.1280C>T (p.Ala427Val) | not provided [RCV005205754] | uncertain significance | 15 | 58563615 | 58563615 | Human | | name |
| 598230332 | CV3980885 | single nucleotide variant | NM_000236.3(LIPC):c.1313C>A (p.Pro438Gln) | not specified [RCV005362688] | uncertain significance | 15 | 58563648 | 58563648 | Human | | name |
| 598230338 | CV3980886 | single nucleotide variant | NM_000236.3(LIPC):c.1040C>T (p.Ser347Phe) | not specified [RCV005362689] | uncertain significance | 15 | 58548561 | 58548561 | Human | | name |
| 598200563 | CV4007469 | single nucleotide variant | NM_000236.3(LIPC):c.1138A>G (p.Lys380Glu) | Type 2 diabetes mellitus [RCV005398299] | uncertain significance | 15 | 58560950 | 58560950 | Human | 3 | name , alternate_id |
| 15193833 | CV754560 | single nucleotide variant | NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121500]|LIPC-related disorder [RCV003950731]|Type 2 diabetes mellitus [RCV003227876]|not provided [RCV000910950] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 58563561 | 58563561 | Human | 4 | name , trait , alternate_id |
| 28892889 | CV873928 | single nucleotide variant | NM_000236.3(LIPC):c.1232G>T (p.Gly411Val) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001121501] | uncertain significance | 15 | 58563567 | 58563567 | Human | 1 | name , alternate_id |
| 28877559 | CV873929 | single nucleotide variant | NM_000236.3(LIPC):c.1273G>C (p.Val425Leu) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116612] | uncertain significance | 15 | 58563608 | 58563608 | Human | 1 | name , alternate_id |
| 28877569 | CV873931 | single nucleotide variant | NM_000236.3(LIPC):c.1415A>T (p.Asp472Val) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116615]|not provided [RCV002069881] | benign|uncertain significance | 15 | 58568742 | 58568742 | Human | 1 | name , alternate_id |
| 28877572 | CV873932 | single nucleotide variant | NM_000236.3(LIPC):c.1421T>C (p.Leu474Pro) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV001116616] | uncertain significance | 15 | 58568748 | 58568748 | Human | 1 | name , alternate_id |
| 14693096 | CV620524 | duplication | NM_000236.3(LIPC):c.738_739dup (p.Gly247fs) | Hyperlipidemia due to hepatic triglyceride lipase deficiency [RCV000778444]|Type 2 diabetes mellitus [RCV005392375]|not provided [RCV001873173] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 58545904 | 58545905 | Human | 4 | name , alternate_id |
| 329362331 | CV2463824 | microsatellite | NM_000236.3(LIPC):c.1271_1275del (p.Ala424fs) | not specified [RCV004279910] | uncertain significance | 15 | 58563601 | 58563605 | Human | | name |
| 151804343 | CV1424437 | indel | NM_000236.3(LIPC):c.671_672delinsTG (p.Thr224Met) | not provided [RCV001932598] | uncertain significance | 15 | 58545838 | 58545839 | Human | | name |
| 151835896 | CV1436394 | indel | NM_000236.3(LIPC):c.672_673delinsGT (p.Arg225Trp) | not provided [RCV002014783] | uncertain significance | 15 | 58545839 | 58545840 | Human | | name |
| 402499520 | CV2872018 | duplication | NM_000236.3(LIPC):c.1015_1023dup (p.Leu341_Val342insLeuPheLeu) | not provided [RCV003545756] | uncertain significance | 15 | 58548535 | 58548536 | Human | | name |
