Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600

2003
dbSNP: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600

2003
dbSNP: rs754882266
rs754882266
UNC13D
T 0.700 GeneticVariation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600

2003
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). 14622600

2003
dbSNP: rs121434352
rs121434352
UNC13D
A 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825

2006
dbSNP: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825

2006
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. 16278825

2006
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
dbSNP: rs764196809
rs764196809
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
dbSNP: rs777759523
rs777759523
UNC13D
T 0.700 CausalMutation CLINVAR Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. 18492689

2008
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: rs201908137
rs201908137
UNC13D
A 0.700 CausalMutation CLINVAR Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. 16825436

2006
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: rs764196809
rs764196809
UNC13D
A 0.700 CausalMutation CLINVAR Single gene disorders. 19484379

2008
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: 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: rs766657895
rs766657895
UNC13D
A 0.700 CausalMutation CLINVAR Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies. 24139496

2014
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: 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