STXBP2 Chromosome 19

Syntaxin binding protein 2
128 variants 128 Health Risk

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What This Gene Does
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
Associated Conditions (17)
Familial hemophagocytic lymphohistiocytosis 5
Autoinflammatory syndrome
STXBP2-related disorder
Inborn genetic diseases
Familial hemophagocytic lymphohistiocytosis
Abnormal bleeding
Thrombocytopenia
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
FAMILIAL
5
WITHOUT MICROVILLUS INCLUSION DISEASE
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Lung cancer
Key Variants
RS114628602
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS1229883838
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS138099253
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS142105943
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS1434458616
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS144233139
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS144914451
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS145260482
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS146165014
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS146425381
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS146685108
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS148868283
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
All Variants (128)
RSID Category Clinical Significance Conditions
RS114628602 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1229883838 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS138099253 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
RS142105943 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
RS1434458616 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder, Familial hemophagocytic lymphohistiocytosis 5
RS144233139 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS144914451 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
RS145260482 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS146165014 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Inborn genetic diseases
RS146425381 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS146685108 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS148868283 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
RS150174842 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
RS150701487 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1599397070 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5
RS200538123 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS201164454 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 5
RS201293382 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS201961771 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS35490401 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Abnormal bleeding, Thrombocytopenia
RS370053399 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS370890802 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder, Familial hemophagocytic lymphohistiocytosis 5
RS371355447 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS374131788 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS535372251 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS542557411 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS544312114 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS746604591 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder, Familial hemophagocytic lymphohistiocytosis 5
RS747031778 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS747513823 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS747969201 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 5
RS748313252 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS750599225 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS755717157 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS755758613 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS756350869 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS756948868 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS757488006 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS759183489 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS764476944 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 5
RS766198135 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
RS771186417 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS773575515 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS886054703 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS930347206 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Inborn genetic diseases
RS980486322 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1157060069 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1261060049 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1288484218 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1290991040 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
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