UNC13D Chromosome 17
Unc-13 homolog D
Upload your DNA to see your personal genotypes for variants in UNC13D.
What This Gene Does
This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
UNC13 homologs
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000092929
Associated Conditions (12)
Familial hemophagocytic lymphohistiocytosis 3
Autoinflammatory syndrome
UNC13D-related disorder
Intellectual disability
Familial hemophagocytic lymphohistiocytosis
See cases
Inborn genetic diseases
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Colon adenocarcinoma
Familial cancer of breast
Malignant tumor of esophagus
Key Variants
RS111728477
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS113482537
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS113861754
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, UNC13D-related disorder
Health Risk
RS116229331
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, UNC13D-related disorder
Health Risk
RS117221419
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS118049905
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS1232542382
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis
Health Risk
RS1354115593
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
Health Risk
RS1359661881
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, See cases, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS1372708758
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
Health Risk
RS1376263454
Conflicting classifications of pathogenicity
See cases, Familial hemophagocytic lymphohistiocytosis 3, See cases
Health Risk
RS138760432
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, UNC13D-related disorder
Health Risk
All Variants (226)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796065025 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS796065026 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS868318523 | Health Risk | Pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS933702160 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS943094444 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS981574088 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS1005334519 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS1157287613 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |
| RS121434352 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, UNC13D-related disorder |
| RS1244919509 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS1274685768 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis |
| RS1567818219 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS2064960622 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |
| RS2545981250 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS747169857 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS747180228 | Health Risk | Pathogenic/Likely pathogenic | Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome |
| RS750811263 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |
| RS752651197 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS754205110 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial cancer of breast |
| RS754882266 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS755348845 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3 |
| RS764507196 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, See cases, Familial hemophagocytic lymphohistiocytosis 3 |
| RS768171054 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |
| RS778829355 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |
| RS910650073 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3 |
| RS959968589 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 3 |