Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. 26342526

2016
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea. 25553300

2015
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). 25573973

2015
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party. 24935083

2015
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. 24470399

2014
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 diagnosed at school age: a case report. 23669735

2014
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection. 24825797

2014
dbSNP: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. 24139496

2014
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. 24470399

2014
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. 24842371

2014
dbSNP: rs1274685768
rs1274685768
UNC13D
A 0.700 GeneticVariation CLINVAR Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 23180437

2013
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. 23180437

2013
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis. 21674762

2012
dbSNP: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. 21755595

2012
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318

2011
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318

2011
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. 21248318

2011
dbSNP: rs959968589
rs959968589
UNC13D
A 0.700 CausalMutation CLINVAR Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. 21931115

2011
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. 21152410

2010
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. 20823128

2010
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. 19704116

2009
dbSNP: rs1274685768
rs1274685768
UNC13D
A 0.700 GeneticVariation CLINVAR Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. 17993578

2008
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 18492689

2008