Gene: LPL ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 15877202

2005
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis. 12641539

2003
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. 12204001

2002
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23. 10787434

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. 11068186

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia. 11099402

2000
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Assessment of French patients with LPL deficiency for French Canadian mutations. 9279761

1997
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. 8778602

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. 8956052

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia. 8956048

1996
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 7906986

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia. 7806969

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 8135797

1994
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 8325986

1993
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). 8288243

1993
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 1598907

1992
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 1400331

1992
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. 1674945

1991
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. 2010533

1991
dbSNP: rs118204057
rs118204057
LPL
0.860 GeneticVariation UNIPROT Cloning and sequencing of lipoprotein lipase (LPL) cDNA prepared from the adipose tissue of a patient with classical LPL deficiency revealed a G to A transition at nucleotide 818 in all sequenced clones, leading to the substitution of glutamic acid for glycine at residue 188 of the mature protein. 1969408

1990
dbSNP: rs118204057
rs118204057
LPL
A 0.860 CausalMutation CLINVAR

dbSNP: rs118204059
rs118204059
LPL
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204060
rs118204060
LPL
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs118204062
rs118204062
LPL
0.810 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012