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Items: 1 to 100 of 234

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:51157110-59938776
GRCh38:
Chr15:50864913-59646577
LOC130057143, LOC130057144, LOC130057145, LOC130057146, LOC130057147, LOC130057148, LOC130057149, LOC130057150, LOC130057151, LOC130057152, LOC130057153, LOC130057154, LOC130057155, LOC130057156, LOC130057157, LOC130057158, LOC130057159, LOC130057160, LOC130057161, LOC130057162, LOC130057163, LOC130057164, LOC130057165, LOC130057166, LOC130057167, LOC130057168, LOC130057169, LOC130057170, LOC130057171, LOC130057172, LOC130057173, LOC130057174, LOC130057175, LOC130057176, LOC130057177, LOC130057178, LOC130057179, LOC130057180, LOC130057181, LOC130057182, LOC130057183, LOC130057184, LOC130057185, LOC130057186, LOC132090303, LOC132090304, LOC132090305, LOC132090306, LOC132090307, LOC132090308, LOC132090309, LOC132090310, LOC132090311, LOC132090312, LOC132090313, LOC132090314, LOC132090315, LOC132090316, LOC132090317, LOC132090318, LOC132090319, LOC132090320, LOC132090321, LOC132090879, LOC132090880, LYSMD2, MAPK6, MAPK6-DT, MINDY2, MINDY2-DT, MIR1266, MIR2116, MIR4713, MIR4713HG, MIR628, MIR7973-1, MIR7973-2, MNS1, MYO1E, MYO5A, MYO5C, MYZAP, NEDD4, ONECUT1, PIERCE2, PIGB, PIGBOS1, PIRC66, POLR2M, PRTG, PYGO1, RAB27A, RFX7, RNF111, RSL24D1, SCG3, SLTM, SNORD13D, TCF12, TCF12-DT, TEX9, TMOD2, TMOD3, TNFAIP8L3, UNC13C, WDR72, ZNF280D, ADAM10, ALDH1A2, ALDH1A2-AS1, AP4E1, AQP9, ARPP19, ATOSA, BCL2L10, CCNB2, CCPG1, CERNA1, CGNL1, CYP19A1, DMXL2, DNAAF4, DNAAF4-CCPG1, FAM81A, GCNT3, GCOM1, GLDN, GNB5, GTF2A2, LDHAL6B, LEO1, LINC00926, LINC01413, LINC02490, LINC03065, LIPC, LIPC-AS1, LOC101928499, LOC105370829, LOC108281154, LOC108281179, LOC110120859, LOC110120911, LOC110386947, LOC110386948, LOC110386949, LOC110386951, LOC111822948, LOC112272593, LOC112272594, LOC112272596, LOC112272597, LOC112272598, LOC112272599, LOC112272600, LOC116268465, LOC116268466, LOC120807607, LOC121530581, LOC121530582, LOC121530583, LOC121530584, LOC121847949, LOC121847950, LOC121847951, LOC121847952, LOC125078080, LOC125078081, LOC125078082, LOC125078083, LOC125078084, LOC125078085, LOC125078086, LOC125078087, LOC125078088, LOC126862131, LOC126862132, LOC126862133, LOC126862134, LOC126862135, LOC126862136, LOC126862137, LOC126862138, LOC126862139, LOC126862140, LOC126862141, LOC126862142, LOC129390702, LOC129390703, LOC129390704, LOC129390705, LOC129390706, LOC129390707, LOC129390708, LOC129390709, LOC130057049, LOC130057050, LOC130057051, LOC130057052, LOC130057053, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LOC130057065, LOC130057066, LOC130057067, LOC130057068, LOC130057069, LOC130057070, LOC130057071, LOC130057072, LOC130057073, LOC130057074, LOC130057075, LOC130057076, LOC130057077, LOC130057078, LOC130057079, LOC130057080, LOC130057081, LOC130057082, LOC130057083, LOC130057084, LOC130057085, LOC130057086, LOC130057087, LOC130057088, LOC130057089, LOC130057090, LOC130057091, LOC130057092, LOC130057093, LOC130057094, LOC130057095, LOC130057096, LOC130057097, LOC130057098, LOC130057099, LOC130057100, LOC130057101, LOC130057102, LOC130057103, LOC130057104, LOC130057105, LOC130057106, LOC130057107, LOC130057108, LOC130057109, LOC130057110, LOC130057111, LOC130057112, LOC130057113, LOC130057114, LOC130057115, LOC130057116, LOC130057117, LOC130057118, LOC130057119, LOC130057120, LOC130057121, LOC130057122, LOC130057123, LOC130057124, LOC130057125, LOC130057126, LOC130057127, LOC130057128, LOC130057129, LOC130057130, LOC130057131, LOC130057132, LOC130057133, LOC130057134, LOC130057135, LOC130057136, LOC130057137, LOC130057138, LOC130057139, LOC130057140, LOC130057141, LOC130057142
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr15:57748274-62199484
GRCh38:
Chr15:57456076-61907285
ADAM10, ALDH1A2, ALDH1A2-AS1, ANXA2, AQP9, BNIP2, CCNB2, CGNL1, FAM81A, FOXB1, GCNT3, GCOM1, GTF2A2, ICE2, LDHAL6B, LINC02349, LIPC, LIPC-AS1, LOC101928850, LOC112272598, LOC112272599, LOC112272600, LOC112272602, LOC121847951, LOC121847952, LOC125078084, LOC125078085, LOC125078086, LOC125078087, LOC125078088, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC126862137, LOC126862138, LOC126862139, LOC126862140, LOC126862141, LOC126862142, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC129390708, LOC129390709, LOC129390710, LOC129390711, LOC130057135, LOC130057136, LOC130057137, LOC130057138, LOC130057139, LOC130057140, LOC130057141, LOC130057142, LOC130057143, LOC130057144, LOC130057145, LOC130057146, LOC130057147, LOC130057148, LOC130057149, LOC130057150, LOC130057151, LOC130057152, LOC130057153, LOC130057154, LOC130057155, LOC130057156, LOC130057157, LOC130057158, LOC130057159, LOC130057160, LOC130057161, LOC130057162, LOC130057163, LOC130057164, LOC130057165, LOC130057166, LOC130057167, LOC130057168, LOC130057169, LOC130057170, LOC130057171, LOC130057172, LOC130057173, LOC130057174, LOC130057175, LOC130057176, LOC130057177, LOC130057178, LOC130057179, LOC130057180, LOC130057181, LOC130057182, LOC130057183, LOC130057184, LOC130057185, LOC130057186, LOC130057187, LOC130057188, LOC130057189, LOC130057190, LOC130057191, LOC130057192, LOC130057193, LOC130057194, LOC130057195, LOC130057196, LOC130057197, LOC130057198, LOC130057199, LOC130057200, LOC130057201, LOC130057202, LOC130057203, LOC130057204, LOC130057205, LOC130057206, LOC130057207, LOC130057208, LOC130057209, LOC130057210, LOC130057211, MINDY2, MINDY2-DT, MIR2116, MYO1E, MYZAP, POLR2M, RNF111, RORA, RORA-AS1, RORA-AS2, SLTM, VPS13C
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr15:57860148-63311614
GRCh38:
Chr15:57567950-63019415
ADAM10, ALDH1A2, ALDH1A2-AS1, ANXA2, AQP9, BNIP2, C2CD4A, C2CD4B, CCNB2, FAM81A, FOXB1, GCNT3, GCOM1, GTF2A2, ICE2, LDHAL6B, LINC02349, LIPC, LIPC-AS1, LOC101928850, LOC107984784, LOC112272598, LOC112272599, LOC112272600, LOC112272602, LOC112272603, LOC113939945, LOC121530585, LOC121847952, LOC125078084, LOC125078085, LOC125078086, LOC125078087, LOC125078088, LOC125078089, LOC125078090, LOC125078091, LOC125078093, LOC125078094, LOC125078095, LOC125078096, LOC125078097, LOC126862138, LOC126862139, LOC126862140, LOC126862141, LOC126862142, LOC126862143, LOC126862144, LOC126862145, LOC126862146, LOC126862147, LOC126862148, LOC126862149, LOC126862150, LOC126862151, LOC126862152, LOC126862153, LOC129390708, LOC129390709, LOC129390710, LOC129390711, LOC129390712, LOC130057137, LOC130057138, LOC130057139, LOC130057140, LOC130057141, LOC130057142, LOC130057143, LOC130057144, LOC130057145, LOC130057146, LOC130057147, LOC130057148, LOC130057149, LOC130057150, LOC130057151, LOC130057152, LOC130057153, LOC130057154, LOC130057155, LOC130057156, LOC130057157, LOC130057158, LOC130057159, LOC130057160, LOC130057161, LOC130057162, LOC130057163, LOC130057164, LOC130057165, LOC130057166, LOC130057167, LOC130057168, LOC130057169, LOC130057170, LOC130057171, LOC130057172, LOC130057173, LOC130057174, LOC130057175, LOC130057176, LOC130057177, LOC130057178, LOC130057179, LOC130057180, LOC130057181, LOC130057182, LOC130057183, LOC130057184, LOC130057185, LOC130057186, LOC130057187, LOC130057188, LOC130057189, LOC130057190, LOC130057191, LOC130057192, LOC130057193, LOC130057194, LOC130057195, LOC130057196, LOC130057197, LOC130057198, LOC130057199, LOC130057200, LOC130057201, LOC130057202, LOC130057203, LOC130057204, LOC130057205, LOC130057206, LOC130057207, LOC130057208, LOC130057209, LOC130057210, LOC130057211, LOC130057212, LOC130057213, LOC130057214, LOC130057215, LOC130057216, LOC130057217, LOC130057218, LOC130057219, LOC130057220, MGC15885, MINDY2, MINDY2-DT, MIR190A, MIR2116, MIR6085, MIR8067, MYO1E, MYZAP, POLR2M, RNF111, RORA, RORA-AS1, RORA-AS2, SLTM, TLN2, VPS13C, VPS13C-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr15:58519923-58756814
GRCh38:
Chr15:58227724-58464615
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr15:58723675
GRCh38:
Chr15:58431476
LIPCHigh density lipoprotein cholesterol level quantitative trait locus 12association
(Aug 1, 2004)
no assertion criteria provided
6.
GRCh37:
Chr15:58723939
GRCh38:
Chr15:58431740
LIPCnot providedBenign
(Nov 7, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr15:58724298
GRCh38:
Chr15:58432099
LIPCL23FHyperlipidemia due to hepatic triglyceride lipase deficiency, not providedUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr15:58724324
GRCh38:
Chr15:58432125
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr15:58724327
GRCh38:
Chr15:58432128
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiency, Type II diabetes mellitus, High density lipoprotein cholesterol level quantitative trait locus 12
Uncertain significance
(Sep 30, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr15:58724371
GRCh38:
Chr15:58432172
LIPCnot providedBenign
(Sep 21, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr15:58724383
GRCh38:
Chr15:58432184
LIPCnot providedBenign
(Nov 18, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr15:58724524
GRCh38:
Chr15:58432325
LIPCnot providedBenign
(Aug 30, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr15:58732468
GRCh38:
Chr15:58440269
LIPC, LIPC-AS1no interpretation for the single variantno interpretation for the single variant
14.
GRCh37:
Chr15:58740588
GRCh38:
Chr15:58448389
LIPC, LIPC-AS1no interpretation for the single variantno interpretation for the single variant
15.
GRCh37:
Chr15:58740588
Chr15:58732468
GRCh38:
Chr15:58448389
Chr15:58440269
LIPC, LIPC-AS1, LIPC, LIPC-AS1High density lipoprotein cholesterol level quantitative trait locus 12association
(Jan 1, 2008)
no assertion criteria provided
16.
GRCh37:
Chr15:58830528
GRCh38:
Chr15:58538329
LIPCHigh density lipoprotein cholesterol level quantitative trait locus 12, Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type II diabetes mellitus,
not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 8, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr15:58830538
GRCh38:
Chr15:58538339
LIPCF32Cnot providedUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:58830563
GRCh38:
Chr15:58538364
LIPCnot providedLikely benign
(May 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr15:58830575
GRCh38:
Chr15:58538376
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr15:58830585
GRCh38:
Chr15:58538386
LIPCM48Vnot providedUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr15:58830586
GRCh38:
Chr15:58538387
LIPCM48Rnot provided, Inborn genetic diseasesUncertain significance
(Mar 2, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr15:58830611
GRCh38:
Chr15:58538412
LIPCnot providedLikely benign
(May 3, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:58830636
GRCh38:
Chr15:58538437
LIPCR65*not provided, Type II diabetes mellitusConflicting interpretations of pathogenicity
(Nov 16, 2023)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr15:58830649
GRCh38:
Chr15:58538450
LIPCP69Lnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr15:58830650
GRCh38:
Chr15:58538451
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:58830652
GRCh38:
Chr15:58538453
LIPCD70Gnot providedUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
27.
GRCh37:
Chr15:58830656
GRCh38:
Chr15:58538457
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign/Likely benign
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr15:58830668
GRCh38:
Chr15:58538469
LIPCnot providedLikely benign
(Apr 6, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr15:58830669
GRCh38:
Chr15:58538470
LIPCG76CInborn genetic diseasesUncertain significance
(Dec 20, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr15:58830695
GRCh38:
Chr15:58538496
LIPCnot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr15:58830705
GRCh38:
Chr15:58538506
LIPCH88Ynot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr15:58830707
GRCh38:
Chr15:58538508
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign/Likely benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr15:58830715
GRCh38:
Chr15:58538516
LIPCS91LInborn genetic diseasesUncertain significance
(May 10, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr15:58830966
GRCh38:
Chr15:58538767
LIPCnot providedBenign
(Aug 30, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr15:58833705
GRCh38:
Chr15:58541506
LIPCnot providedBenign
(Oct 25, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr15:58833742
GRCh38:
Chr15:58541543
LIPCnot providedBenign
(Sep 29, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr15:58833938
GRCh38:
Chr15:58541739
LIPCnot providedBenign
(Aug 30, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr15:58833979
GRCh38:
Chr15:58541780
LIPCType II diabetes mellitusUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr15:58833989
GRCh38:
Chr15:58541790
LIPCnot providedLikely benign
(Oct 8, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr15:58833990
GRCh38:
Chr15:58541791
LIPCG94Snot providedUncertain significance
(Aug 25, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr15:58833993
GRCh38:
Chr15:58541794
LIPCV95Mnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr15:58834018
GRCh38:
Chr15:58541819
LIPCM103TInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr15:58834024
GRCh38:
Chr15:58541825
LIPCA105VHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr15:58834026
GRCh38:
Chr15:58541827
LIPCA106THyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr15:58834027
GRCh38:
Chr15:58541828
LIPCA106Vnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr15:58834028
GRCh38:
Chr15:58541829
LIPCnot providedLikely benign
(Dec 12, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr15:58834043
GRCh38:
Chr15:58541844
LIPCnot providedBenign
(May 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:58834050
GRCh38:
Chr15:58541851
LIPCP114TInborn genetic diseasesUncertain significance
(Aug 19, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr15:58834059
GRCh38:
Chr15:58541860
LIPCV117MInborn genetic diseasesUncertain significance
(Aug 22, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr15:58834063
GRCh38:
Chr15:58541864
LIPCG118EHigh density lipoprotein cholesterol level quantitative trait locus 12, Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type II diabetes mellitus
Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr15:58834084
GRCh38:
Chr15:58541885
LIPCL125Pnot providedUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr15:58834087
GRCh38:
Chr15:58541888
LIPCA126DHigh density lipoprotein cholesterol level quantitative trait locus 12, Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type II diabetes mellitus
Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:58834091
GRCh38:
Chr15:58541892
LIPCnot providedLikely benign
(Oct 28, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr15:58834092
GRCh38:
Chr15:58541893
LIPCD128Ynot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr15:58834113
GRCh38:
Chr15:58541914
LIPCR135Cnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Nov 5, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr15:58834114
GRCh38:
Chr15:58541915
LIPCR135HInborn genetic diseases, not providedUncertain significance
(Feb 13, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:58834122
GRCh38:
Chr15:58541923
LIPCR138CInborn genetic diseasesUncertain significance
(Jun 12, 2023)
criteria provided, single submitter
58.
GRCh37:
Chr15:58834143
GRCh38:
Chr15:58541944
LIPCA145Tnot providedLikely benign
(Jul 23, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:58834168
GRCh38:
Chr15:58541969
LIPCnot providedUncertain significance
(Sep 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr15:58834171
GRCh38:
Chr15:58541972
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr15:58834375
GRCh38:
Chr15:58542176
LIPCnot providedBenign
(Aug 30, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr15:58834391
GRCh38:
Chr15:58542192
LIPCnot providedBenign
(Sep 29, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr15:58834539
GRCh38:
Chr15:58542340
LIPCnot providedBenign
(Apr 4, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr15:58834737
GRCh38:
Chr15:58542538
LIPCS154YHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr15:58834741
GRCh38:
Chr15:58542542
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr15:58834756
GRCh38:
Chr15:58542557
LIPCnot providedLikely benign
(Apr 24, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr15:58834773
GRCh38:
Chr15:58542574
LIPCG166AInborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr15:58834793
GRCh38:
Chr15:58542594
LIPCV173MHigh density lipoprotein cholesterol level quantitative trait locus 12Uncertain significance
(Nov 24, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr15:58834807
GRCh38:
Chr15:58542608
LIPCnot providedLikely benign
(May 14, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:58834808
GRCh38:
Chr15:58542609
LIPCG178SInborn genetic diseasesUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr15:58834820
GRCh38:
Chr15:58542621
LIPCG182Snot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr15:58834827
GRCh38:
Chr15:58542628
LIPCT184MInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr15:58834830
GRCh38:
Chr15:58542631
LIPCH185RInborn genetic diseasesLikely benign
(Aug 9, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr15:58834835
GRCh38:
Chr15:58542636
LIPCI187Fnot providedUncertain significance
(May 21, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr15:58834868
GRCh38:
Chr15:58542669
LIPCnot providedLikely benign
(Mar 13, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:58834929
GRCh38:
Chr15:58542730
LIPCnot providedBenign
(Jun 30, 2019)
criteria provided, single submitter
77.
GRCh37:
Chr15:58837718
GRCh38:
Chr15:58545519
LIPCnot providedBenign
(Sep 22, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr15:58837722
GRCh38:
Chr15:58545523
LIPCnot providedBenign
(Sep 21, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr15:58837764
GRCh38:
Chr15:58545565
LIPCnot providedBenign
(Sep 22, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr15:58837850
GRCh38:
Chr15:58545651
LIPCnot providedLikely benign
(Mar 14, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr15:58837852
GRCh38:
Chr15:58545653
LIPCnot providedLikely benign
(Mar 14, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr15:58837910
GRCh38:
Chr15:58545711
LIPCnot providedBenign
(Apr 4, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr15:58837926
GRCh38:
Chr15:58545727
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiency, not providedBenign/Likely benign
(Aug 27, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr15:58837933
GRCh38:
Chr15:58545734
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr15:58837936
GRCh38:
Chr15:58545737
LIPCHyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr15:58837949
GRCh38:
Chr15:58545750
LIPCA195THyperlipidemia due to hepatic triglyceride lipase deficiencyPathogenic
(Aug 1, 2003)
no assertion criteria provided
87.
GRCh37:
Chr15:58837952
GRCh38:
Chr15:58545753
LIPCA196Tnot providedUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr15:58837954
GRCh38:
Chr15:58545755
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyConflicting interpretations of pathogenicity
(Aug 10, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr15:58837957
GRCh38:
Chr15:58545758
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Oct 22, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr15:58837989
GRCh38:
Chr15:58545790
LIPCR208Hnot providedLikely pathogenicno assertion criteria provided
91.
GRCh37:
Chr15:58838010
GRCh38:
Chr15:58545811
LIPCN215Snot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr15:58838018
GRCh38:
Chr15:58545819
LIPCD218HInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:58838037-58838038
GRCh38:
Chr15:58545838-58545839
LIPCT224Mnot providedUncertain significance
(Jul 31, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr15:58838038-58838039
GRCh38:
Chr15:58545839-58545840
LIPCR225Wnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr15:58838038
GRCh38:
Chr15:58545839
LIPCnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr15:58838040
GRCh38:
Chr15:58545841
LIPCR225Qnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiency, Type II diabetes mellitus,
High density lipoprotein cholesterol level quantitative trait locus 12
Uncertain significance
(Jan 26, 2023)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr15:58838051
GRCh38:
Chr15:58545852
LIPCG229Snot providedUncertain significance
(Aug 7, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr15:58838052
GRCh38:
Chr15:58545853
LIPCG229VHigh density lipoprotein cholesterol level quantitative trait locus 6Uncertain significance
(Jan 14, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr15:58838097
GRCh38:
Chr15:58545898
LIPCY244Cnot providedUncertain significance
(Mar 29, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr15:58838103-58838104
GRCh38:
Chr15:58545904-58545905
LIPCG247fsnot provided, Hyperlipidemia due to hepatic triglyceride lipase deficiencyUncertain significance
(Jul 26, 2021)
criteria provided, multiple submitters, no conflicts
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