LIPC — 336 ClinVar variants
All ClinVar germline LIPC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 15 Conflicting · 50 Benign · 11 Benign/Likely benign · 69 Likely benign · 187 Uncertain significance
Full LIPC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 163
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- LIPC p.Arg444His Conflicting Single submitter
-
LIPC p.Asp409Ala
Conflicting
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Asp472Val
Conflicting
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.His185Arg Conflicting Single submitter
-
LIPC p.Leu23Phe
Conflicting
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Ser289Phe
Conflicting
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Thr272Ile Conflicting Single submitter
-
LIPC p.Thr405Met
Conflicting
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
Predictors lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LIPC p.Ala105Val
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Arg135His Uncertain significance Multiple submitters
-
LIPC p.Arg225Gln
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Arg329His
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Arg333Gln
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Arg444Cys
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Arg477His
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Asp218His Uncertain significance Multiple submitters
-
LIPC p.Gly247Arg
Uncertain significance
Multiple submitters
type 2 diabetes mellitus
- LIPC p.Ile187Phe Uncertain significance Multiple submitters
- LIPC p.Met305Ile Uncertain significance Multiple submitters
- LIPC p.Met383Ile Uncertain significance Multiple submitters
- LIPC p.Met48Arg Uncertain significance Multiple submitters
- LIPC p.Pro443Leu Uncertain significance Multiple submitters
-
LIPC p.Pro69Leu
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Ser206Arg Uncertain significance Multiple submitters
- LIPC p.Ser440Asn Uncertain significance Multiple submitters
- LIPC p.Thr184Met Uncertain significance Multiple submitters
- LIPC p.Thr399Met Uncertain significance Multiple submitters
-
LIPC p.Val173Met
Uncertain significance
Multiple submitters
High density lipoprotein cholesterol level quantitative trait locus 12
- LIPC p.Ala105Gly Uncertain significance Single submitter
-
LIPC p.Ala106Thr
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Ala126Asp
Uncertain significance
Single submitter
type 2 diabetes mellitus
- LIPC p.Ala145Val Uncertain significance Single submitter
- LIPC p.Ala196Thr Uncertain significance Single submitter
- LIPC p.Ala196Val Uncertain significance Single submitter
- LIPC p.Ala36Asp Uncertain significance Single submitter
- LIPC p.Ala427Val Uncertain significance Single submitter
- LIPC p.Arg149Leu Uncertain significance Single submitter
- LIPC p.Arg281Gln Uncertain significance Single submitter
- LIPC p.Arg333Trp Uncertain significance Single submitter
-
LIPC p.Arg344Gln
Uncertain significance
Single submitter
type 2 diabetes mellitus
- LIPC p.Arg444Pro Uncertain significance Single submitter
- LIPC p.Arg477Cys Uncertain significance Single submitter
- LIPC p.Asn207Ser Uncertain significance Single submitter
- LIPC p.Asn269Ser Uncertain significance Single submitter
- LIPC p.Asp128Tyr Uncertain significance Single submitter
- LIPC p.Asp2Val Uncertain significance Single submitter
- LIPC p.Asp407Asn Uncertain significance Single submitter
- LIPC p.Asp409Tyr Uncertain significance Single submitter
- LIPC p.Asp431Gly Uncertain significance Single submitter
- LIPC p.Asp472Asn Uncertain significance Single submitter
- LIPC p.Asp70Gly Uncertain significance Single submitter
-
LIPC p.Cys277Arg
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Cys277Phe Uncertain significance Single submitter
- LIPC p.Cys313Arg Uncertain significance Single submitter
-
LIPC p.Cys316Phe
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Cys321Phe Uncertain significance Single submitter
- LIPC p.Cys467Phe Uncertain significance Single submitter
- LIPC p.Gln310Arg Uncertain significance Single submitter
- LIPC p.Gln310His Uncertain significance Single submitter
- LIPC p.Gln363Lys Uncertain significance Single submitter
- LIPC p.Gln480His Uncertain significance Single submitter
- LIPC p.Gln60His Uncertain significance Single submitter
- LIPC p.Glu258Gln Uncertain significance Single submitter
- LIPC p.Glu488Asp Uncertain significance Single submitter
- LIPC p.Gly166Ala Uncertain significance Single submitter
- LIPC p.Gly182Ser Uncertain significance Single submitter
- LIPC p.Gly202Ala Uncertain significance Single submitter
- LIPC p.Gly267Cys Uncertain significance Single submitter
- LIPC p.Gly294Ser Uncertain significance Single submitter
- LIPC p.Gly303Arg Uncertain significance Single submitter
- LIPC p.Gly411Arg Uncertain significance Single submitter
-
LIPC p.Gly411Val
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Gly89Arg Uncertain significance Single submitter
- LIPC p.Gly89Val Uncertain significance Single submitter
- LIPC p.His185Tyr Uncertain significance Single submitter
- LIPC p.His240Tyr Uncertain significance Single submitter
- LIPC p.His266Arg Uncertain significance Single submitter
- LIPC p.His46Arg Uncertain significance Single submitter
- LIPC p.His46Gln Uncertain significance Single submitter
- LIPC p.His88Tyr Uncertain significance Single submitter
- LIPC p.Ile132Thr Uncertain significance Single submitter
- LIPC p.Ile16Val Uncertain significance Single submitter
-
LIPC p.Ile263Val
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Ile66Val Uncertain significance Single submitter
- LIPC p.Leu125Pro Uncertain significance Single submitter
- LIPC p.Leu12Val Uncertain significance Single submitter
- LIPC p.Leu147Pro Uncertain significance Single submitter
- LIPC p.Leu291Met Uncertain significance Single submitter
- LIPC p.Leu377Phe Uncertain significance Single submitter
-
LIPC p.Leu474Pro
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Lys380Glu
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Lys417Arg Uncertain significance Single submitter
- LIPC p.Met305Arg Uncertain significance Single submitter
- LIPC p.Met374Val Uncertain significance Single submitter
- LIPC p.Met383Thr Uncertain significance Single submitter
- LIPC p.Met48Val Uncertain significance Single submitter
- LIPC p.Phe32Cys Uncertain significance Single submitter
- LIPC p.Phe55Leu Uncertain significance Single submitter
- LIPC p.Pro111Leu Uncertain significance Single submitter
- LIPC p.Pro114Thr Uncertain significance Single submitter
- LIPC p.Pro31Thr Uncertain significance Single submitter
- LIPC p.Pro332Leu Uncertain significance Single submitter
- LIPC p.Pro438Gln Uncertain significance Single submitter
- LIPC p.Ser109Thr Uncertain significance Single submitter
-
LIPC p.Ser154Tyr
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Ser158Cys Uncertain significance Single submitter
- LIPC p.Ser179Asn Uncertain significance Single submitter
- LIPC p.Ser21Thr Uncertain significance Single submitter
- LIPC p.Ser249Phe Uncertain significance Single submitter
- LIPC p.Ser26Arg Uncertain significance Single submitter
- LIPC p.Ser309Asn Uncertain significance Single submitter
- LIPC p.Ser347Phe Uncertain significance Single submitter
- LIPC p.Ser4Arg Uncertain significance Single submitter
- LIPC p.Thr137Asn Uncertain significance Single submitter
- LIPC p.Thr44Met Uncertain significance Single submitter
- LIPC p.Thr452Met Uncertain significance Single submitter
- LIPC p.Thr465Ile Uncertain significance Single submitter
- LIPC p.Tyr244Cys Uncertain significance Single submitter
- LIPC p.Val328Ile Uncertain significance Single submitter
- LIPC p.Val342Glu Uncertain significance Single submitter
-
LIPC p.Val342Ile
Uncertain significance
Single submitter
type 2 diabetes mellitus
- LIPC p.Val408Met Uncertain significance Single submitter
-
LIPC p.Val425Leu
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Val433Ile Uncertain significance Single submitter
- LIPC p.Val485Leu Uncertain significance Single submitter
- LIPC p.Val485Met Uncertain significance Single submitter
- LIPC p.Val84Glu Uncertain significance Single submitter
- LIPC p.Val95Leu Uncertain significance Single submitter
- LIPC p.Leu259Phe Uncertain significance No assertion criteria
- LIPC p.Thr323Met Uncertain significance No assertion criteria
Predictors split 33
The independent predictors disagree with each other — read with care.
-
LIPC p.Ala106Val
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
-
LIPC p.Arg135Cys
Uncertain significance
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Arg138Cys Uncertain significance Multiple submitters
- LIPC p.Arg320Gly Uncertain significance Multiple submitters
- LIPC p.Asp473Val Uncertain significance Multiple submitters
-
LIPC p.Phe356Leu
Benign
Multiple submitters
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Ala126Thr Uncertain significance Single submitter
- LIPC p.Ala299Gly Uncertain significance Single submitter
- LIPC p.Arg208His Uncertain significance Single submitter
- LIPC p.Arg320Leu Uncertain significance Single submitter
- LIPC p.Arg329Cys Uncertain significance Single submitter
- LIPC p.Asp304His Uncertain significance Single submitter
-
LIPC p.Gly118Glu
Uncertain significance
Single submitter
type 2 diabetes mellitus
- LIPC p.Gly178Ser Uncertain significance Single submitter
- LIPC p.Gly229Ser Uncertain significance Single submitter
-
LIPC p.Gly229Val
Uncertain significance
Single submitter
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
-
LIPC p.Gly253Ser
Uncertain significance
Single submitter
type 2 diabetes mellitus
- LIPC p.Gly267Asp Uncertain significance Single submitter
-
LIPC p.Gly411Ser
Uncertain significance
Single submitter
hyperlipidemia due to hepatic triglyceride lipase deficiency
- LIPC p.Gly76Cys Uncertain significance Single submitter
- LIPC p.Gly94Ser Uncertain significance Single submitter
- LIPC p.Met103Thr Uncertain significance Single submitter
- LIPC p.Phe250Cys Uncertain significance Single submitter
- LIPC p.Phe360Leu Uncertain significance Single submitter
- LIPC p.Phe402Ser Uncertain significance Single submitter
- LIPC p.Pro82Ser Uncertain significance Single submitter
- LIPC p.Ser91Leu Uncertain significance Single submitter
- LIPC p.Thr224Asn Uncertain significance Single submitter
- LIPC p.Trp426Arg Uncertain significance Single submitter
- LIPC p.Val104Met Uncertain significance Single submitter
- LIPC p.Val117Met Uncertain significance Single submitter
- LIPC p.Val232Met Uncertain significance Single submitter
-
LIPC p.Phe250Leu
Likely pathogenic
No assertion criteria
Abnormal circulating lipid concentration
All LIPC variants
Pathogenic 3
- c.1052-1G>C No assertion criteria Abnormal circulating lipid concentration
- p.Ala195Thr No assertion criteria hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Phe356= No assertion criteria hyperlipidemia due to hepatic triglyceride lipase deficiency
Likely pathogenic 1
- p.Phe250Leu No assertion criteria Abnormal circulating lipid concentration ⚠
Conflicting classifications of pathogenicity 15
- c.1388+13T>G Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.88+8C>A Single submitter type 2 diabetes mellitus
- c.89-4G>A Single submitter type 2 diabetes mellitus
- p.Ala196= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Arg444His Single submitter ⚠
- p.Arg65Ter Single submitter type 2 diabetes mellitus
- p.Asp409Ala Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Asp472Val Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.His185Arg Single submitter ⚠
- p.Leu23Phe Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Pro69= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Ser289Phe Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ser401= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr272Ile Single submitter ⚠
- p.Thr405Met Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
Benign 50
- c.1169+127C>G Multiple submitters
- c.1169+183C>T Multiple submitters
- c.1169+31T>C Multiple submitters
- c.1169+38C>T Multiple submitters
- c.1388+111T>C Multiple submitters
- c.1388+164C>T Multiple submitters
- c.1388+271T>C Multiple submitters
- c.1388+277G>T Multiple submitters
- c.274-46G>A Multiple submitters
- c.456+209T>C Multiple submitters
- c.456+225A>G Multiple submitters
- c.575-177A>G Multiple submitters
- c.575-219G>A Multiple submitters
- c.575-223C>T Multiple submitters
- c.575-31T>C Multiple submitters
- c.575-8C>A Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.809-79A>C Multiple submitters
- c.88+205A>G Multiple submitters
- c.88+52C>T Multiple submitters
- c.88+64A>G Multiple submitters
- p.Asn215Ser Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Gly197= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Phe356Leu Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Thr224= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr366= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr479= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Val155= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Val95Met Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.1051+111G>C Single submitter
- c.1051+151A>T Single submitter
- c.1051+159T>C Single submitter
- c.1052-141A>C Single submitter
- c.1052-149C>G Single submitter
- c.1052-210_1052-191del Single submitter
- c.1052-274T>G Single submitter
- c.1052-275G>A Single submitter
- c.1169+21_1169+22dup Single submitter
- c.1169+245T>C Single submitter
- c.1169+33AC[2] Single submitter
- c.1170-224A>G Single submitter
- c.1389-161T>G Single submitter
- c.1389-213T>A Single submitter
- c.273+250C>T Single submitter
- c.274-242T>C Single submitter
- c.274-279T>C Single submitter
- c.457-194A>C Single submitter
- c.574+79C>T Single submitter
- c.808+254T>C Single submitter
- c.808+266T>C Single submitter
- p.Pro111= Single submitter
Benign/Likely benign 11
- c.1052-10C>G Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.575-15C>T Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Gln355Arg Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Gly411= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.His279= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.His327= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.His88= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Pro438= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr343= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr432= Multiple submitters
- p.Thr71= Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
Likely benign 69
- c.808+26G>A Multiple submitters
- c.808+73C>G Multiple submitters
- c.1051+15G>A Single submitter
- c.1051+16G>C Single submitter
- c.1051+201T>G Single submitter
- c.1052-13TC[6] Single submitter
- c.1052-20C>T Single submitter
- c.1052-31T>A Single submitter
- c.1052-97C>G Single submitter
- c.1170-239del Single submitter
- c.1388+10G>A Single submitter
- c.1388+1444G>A Single submitter
- c.1389-12T>C Single submitter
- c.273+16A>G Single submitter
- c.456+11G>A Single submitter
- c.456+12C>T Single submitter
- c.457-16C>T Single submitter
- c.574+18C>T Single submitter
- c.575-89G>A Single submitter
- c.575-91C>T Single submitter
- c.809-14del Single submitter
- c.809-19T>C Single submitter
- c.809-232C>T Single submitter
- c.809-47T>C Single submitter
- c.809-7G>T Single submitter
- p.Ala106= Single submitter
- p.Ala133= Single submitter
- p.Ala145= Single submitter
- p.Ala145Thr Single submitter
- p.Ala177= Single submitter
- p.Ala36Val Single submitter
- p.Arg333= Single submitter
- p.Asn246= Single submitter
- p.Asp128= Single submitter
- p.Asp93= Single submitter
- p.Cys75= Single submitter
- p.Gln296= Single submitter
- p.Gln461= Single submitter
- p.Glu40= Single submitter
- p.Gly166= Single submitter
- p.Gly247= Single submitter
- p.Gly248= Single submitter
- p.Gly56= Single submitter
- p.Gly94= Single submitter
- p.His127= Single submitter
- p.His172= Single submitter
- p.His266= Single submitter
- p.His292= Single submitter
- p.Ile132= Single submitter
- p.Ile181= Single submitter
- p.Leu107= Single submitter
- p.Leu341= Single submitter
- p.Leu377= Single submitter
- p.Leu413Pro Single submitter
- p.Leu475= Single submitter
- p.Phe17= Single submitter
- p.Phe349= Single submitter
- p.Pro252= Single submitter
- p.Pro301= Single submitter
- p.Pro332= Single submitter
- p.Ser160= Single submitter
- p.Ser26= Single submitter
- p.Ser282= Single submitter
- p.Thr323= Single submitter
- p.Thr452= Single submitter
- p.Tyr241= Single submitter
- p.Val144= Single submitter
- p.Val328= Single submitter
- p.Ser231= No assertion criteria LIPC-related disorder
Uncertain significance 187
- c.456+2T>C Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.456+5C>T Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Ala105Val Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ala106Val Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ala424fs Multiple submitters type 2 diabetes mellitus
- p.Arg135Cys Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Arg135His Multiple submitters ⚠
- p.Arg138Cys Multiple submitters ⚠
- p.Arg225Gln Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Arg320Gly Multiple submitters ⚠
- p.Arg329His Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Arg333Gln Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Arg444Cys Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Arg477His Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Asp218His Multiple submitters ⚠
- p.Asp473Val Multiple submitters ⚠
- p.Gly247Arg Multiple submitters type 2 diabetes mellitus ⚠
- p.Gly247fs Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Ile187Phe Multiple submitters ⚠
- p.Met305Ile Multiple submitters ⚠
- p.Met383Ile Multiple submitters ⚠
- p.Met48Arg Multiple submitters ⚠
- p.Pro443Leu Multiple submitters ⚠
- p.Pro69Leu Multiple submitters hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ser206Arg Multiple submitters ⚠
- p.Ser440Asn Multiple submitters ⚠
- p.Thr184Met Multiple submitters ⚠
- p.Thr399Met Multiple submitters ⚠
- p.Trp439Arg Multiple submitters
- p.Val173Met Multiple submitters High density lipoprotein cholesterol level quantitative trait locus 12 ⚠
- c.1051+5G>C Single submitter
- c.1052-6C>A Single submitter
- c.1169+11G>A Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.1170-2A>G Single submitter
- c.274-5C>T Single submitter type 2 diabetes mellitus
- c.456+6G>A Single submitter
- c.457-10T>G Single submitter
- c.575-5A>G Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- c.808+19_808+20delinsAA Single submitter
- c.88+5G>C Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Ala105Gly Single submitter ⚠
- p.Ala106Thr Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ala126Asp Single submitter type 2 diabetes mellitus ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala299Gly Single submitter ⚠
- p.Ala36Asp Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Arg149Leu Single submitter ⚠
- p.Arg159Ter Single submitter
- p.Arg208His Single submitter ⚠
- p.Arg225Trp Single submitter
- p.Arg281Gln Single submitter ⚠
- p.Arg320Leu Single submitter ⚠
- p.Arg329Cys Single submitter ⚠
- p.Arg333Trp Single submitter ⚠
- p.Arg344Gln Single submitter type 2 diabetes mellitus ⚠
- p.Arg444Pro Single submitter ⚠
- p.Arg477Cys Single submitter ⚠
- p.Asn207Ser Single submitter ⚠
- p.Asn269Ser Single submitter ⚠
- p.Asp128Tyr Single submitter ⚠
- p.Asp2Val Single submitter ⚠
- p.Asp304His Single submitter ⚠
- p.Asp407Asn Single submitter ⚠
- p.Asp409Tyr Single submitter ⚠
- p.Asp431Gly Single submitter ⚠
- p.Asp472Asn Single submitter ⚠
- p.Asp70Gly Single submitter ⚠
- p.Cys254fs Single submitter
- p.Cys277Arg Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Cys277Phe Single submitter ⚠
- p.Cys313Arg Single submitter ⚠
- p.Cys316Phe Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Cys321Phe Single submitter ⚠
- p.Cys467Phe Single submitter ⚠
- p.Cys75Ter Single submitter
- p.Gln310Arg Single submitter ⚠
- p.Gln310His Single submitter ⚠
- p.Gln363Lys Single submitter ⚠
- p.Gln480His Single submitter ⚠
- p.Gln60His Single submitter ⚠
- p.Glu258Gln Single submitter ⚠
- p.Glu488Asp Single submitter ⚠
- p.Gly118Glu Single submitter type 2 diabetes mellitus ⚠
- p.Gly166Ala Single submitter ⚠
- p.Gly178Ser Single submitter ⚠
- p.Gly182Ser Single submitter ⚠
- p.Gly202Ala Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly229Val Single submitter HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 ⚠
- p.Gly253Ser Single submitter type 2 diabetes mellitus ⚠
- p.Gly267Asp Single submitter ⚠
- p.Gly267Cys Single submitter ⚠
- p.Gly294Ser Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly411Arg Single submitter ⚠
- p.Gly411Ser Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Gly411Val Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Gly447= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Gly76Cys Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.Gly89Val Single submitter ⚠
- p.Gly94Ser Single submitter ⚠
- p.His129_Tyr130insTer Single submitter
- p.His185Tyr Single submitter ⚠
- p.His240Tyr Single submitter ⚠
- p.His266Arg Single submitter ⚠
- p.His46Arg Single submitter ⚠
- p.His46Gln Single submitter ⚠
- p.His88Tyr Single submitter ⚠
- p.Ile132Thr Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile263Val Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ile66Val Single submitter ⚠
- p.Leu125Pro Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu147Pro Single submitter ⚠
- p.Leu291Met Single submitter ⚠
- p.Leu341_Val342insLeuPheLeu Single submitter
- p.Leu377Phe Single submitter ⚠
- p.Leu390= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Leu474Pro Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Lys380Glu Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Lys417Arg Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Met305Arg Single submitter ⚠
- p.Met374Val Single submitter ⚠
- p.Met383Thr Single submitter ⚠
- p.Met48Val Single submitter ⚠
- p.Phe250Cys Single submitter ⚠
- p.Phe256_Leu257insTer Single submitter
- p.Phe256Leu Single submitter
- p.Phe32Cys Single submitter ⚠
- p.Phe360Leu Single submitter ⚠
- p.Phe402Ser Single submitter ⚠
- p.Phe484Val Single submitter
- p.Phe55fs Single submitter
- p.Phe55Leu Single submitter ⚠
- p.Pro111Leu Single submitter ⚠
- p.Pro114Thr Single submitter ⚠
- p.Pro31Thr Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Pro438Gln Single submitter ⚠
- p.Pro82Ser Single submitter ⚠
- p.Ser109Thr Single submitter ⚠
- p.Ser154Tyr Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Ser158Cys Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser21Thr Single submitter ⚠
- p.Ser249Phe Single submitter ⚠
- p.Ser26Arg Single submitter ⚠
- p.Ser309Asn Single submitter ⚠
- p.Ser347Phe Single submitter ⚠
- p.Ser4Arg Single submitter ⚠
- p.Ser91= Single submitter
- p.Ser91Leu Single submitter ⚠
- p.Thr137Asn Single submitter ⚠
- p.Thr224Asn Single submitter ⚠
- p.Thr224Met Single submitter
- p.Thr405= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr44= Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency
- p.Thr44Met Single submitter ⚠
- p.Thr452Met Single submitter ⚠
- p.Thr465Ile Single submitter ⚠
- p.Trp122Ter Single submitter
- p.Trp426Arg Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val117Met Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val328Ile Single submitter ⚠
- p.Val342Glu Single submitter ⚠
- p.Val342Ile Single submitter type 2 diabetes mellitus ⚠
- p.Val408Met Single submitter ⚠
- p.Val425Leu Single submitter hyperlipidemia due to hepatic triglyceride lipase deficiency ⚠
- p.Val433Ile Single submitter ⚠
- p.Val485Leu Single submitter ⚠
- p.Val485Met Single submitter ⚠
- p.Val84= Single submitter
- p.Val84Glu Single submitter ⚠
- p.Val95Leu Single submitter ⚠
- p.Arg338fs No assertion criteria LIPC-related disorder
- p.Leu259Phe No assertion criteria ⚠
- p.Thr323Met No assertion criteria ⚠