Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771640357
rs771640357
LIPA
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His). 31318819

2019
dbSNP: rs1357012145
rs1357012145
LIPF
0.010 GeneticVariation BEFREE DNA sequence and restriction fragment length polymorphism analysis demonstrated that the patient was a compound heterozygote for the prevalent CESD exon 8 splice site mutation (G934A) and the deletion of a C (nucleotide 673, 674, or 675) in exon 6 of the hLAL gene, resulting in premature termination of protein translation at residue 195. 10735626

2000
dbSNP: rs775189464
rs775189464
LIPF
0.010 GeneticVariation BEFREE The only exception was a substitution at nucleotide 866 in the CESD case without an exon 8 splicing mutation; expression of the predicted S289C change in a transfection assay produced a low, but clearly measurable, level of acid esterase activity. 10562460

1999
dbSNP: rs939203331
rs939203331
UGT8
0.010 GeneticVariation BEFREE A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely. 9633819

1998
dbSNP: rs770407719
rs770407719
LIPA
0.010 GeneticVariation BEFREE Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD. 7773732

1995
dbSNP: rs1554866097
rs1554866097
LIPA
T 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
dbSNP: rs749180806
rs749180806
LIPA
A 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
dbSNP: rs766364179
rs766364179
LIPA
T 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
dbSNP: rs767688436
rs767688436
LIPA
C 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
dbSNP: rs772684869
rs772684869
LIPA
G 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019
dbSNP: rs1554866004
rs1554866004
LIPA
T 0.700 GeneticVariation CLINVAR Lysosomal acid lipase deficiency in all siblings of the same parents. 28502515

2018
dbSNP: rs1554865214
rs1554865214
LIPA
A 0.700 GeneticVariation CLINVAR Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype. 25620107

2015
dbSNP: rs747508159
rs747508159
LIPA
C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs767688436
rs767688436
LIPA
C 0.700 GeneticVariation CLINVAR Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. 25624737

2015
dbSNP: rs779712562
rs779712562
LIPA
A 0.700 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914

2015
dbSNP: rs1554866097
rs1554866097
LIPA
T 0.700 GeneticVariation CLINVAR Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 24792990

2014
dbSNP: rs749180806
rs749180806
LIPA
A 0.700 GeneticVariation CLINVAR Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 24792990

2014
dbSNP: rs770074196
rs770074196
LIPA
C 0.700 CausalMutation CLINVAR Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. 24993530

2014
dbSNP: rs772684869
rs772684869
LIPA
G 0.700 GeneticVariation CLINVAR Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 24792990

2014
dbSNP: rs1554865214
rs1554865214
LIPA
A 0.700 GeneticVariation CLINVAR Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. 22227072

2012
dbSNP: rs762559980
rs762559980
LIPA
A 0.700 GeneticVariation CLINVAR Intragenic deletion as a novel type of mutation in Wolman disease. 21963785

2011
dbSNP: rs779712562
rs779712562
LIPA
A 0.700 CausalMutation CLINVAR Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. 10627498

2000
dbSNP: rs770074196
rs770074196
LIPA
C 0.700 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs779712562
rs779712562
LIPA
A 0.700 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs1554865214
rs1554865214
LIPA
A 0.700 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740

1998