Gene: MTTP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422220
rs199422220
MTTP
A 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013
dbSNP: rs199422221
rs199422221
MTTP
T 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013
dbSNP: rs199422222
rs199422222
MTTP
T 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013
dbSNP: rs767833468
rs767833468
MTTP
A 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013
dbSNP: rs199422222
rs199422222
MTTP
T 0.800 CausalMutation CLINVAR Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia. 12630961

2003
dbSNP: rs199422221
rs199422221
MTTP
T 0.800 CausalMutation CLINVAR It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. 10946006

2000
dbSNP: rs199422220
rs199422220
MTTP
A 0.800 CausalMutation CLINVAR A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939

1996
dbSNP: rs1560621495
rs1560621495
MTTP
A 0.700 CausalMutation CLINVAR Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406

2012
dbSNP: rs755681036
rs755681036
MTTP
A 0.700 GeneticVariation CLINVAR Abetalipoproteinemia: two case reports and literature review. 18611256

2008
dbSNP: rs146064714
rs146064714
MTTP
T 0.700 CausalMutation CLINVAR Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 17275380

2007
dbSNP: rs1560614646
rs1560614646
MTTP
T 0.700 GeneticVariation CLINVAR Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 17275380

2007
dbSNP: rs146064714
rs146064714
MTTP
T 0.700 CausalMutation CLINVAR Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. 10679949

2000
dbSNP: rs146064714
rs146064714
MTTP
T 0.700 CausalMutation CLINVAR A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. 7782284

1995
dbSNP: rs146064714
rs146064714
MTTP
T 0.700 CausalMutation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758

1995
dbSNP: rs755681036
rs755681036
MTTP
A 0.700 GeneticVariation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758

1995
dbSNP: rs1553926818
rs1553926818
MTTP
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553927840
rs1553927840
MTTP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1560614154
rs1560614154
MTTP
T 0.700 CausalMutation CLINVAR

dbSNP: rs1560621444
rs1560621444
MTTP
A 0.700 CausalMutation CLINVAR

dbSNP: rs199422219
rs199422219
MTTP
T 0.700 CausalMutation CLINVAR