CARD9 Chromosome 9

Caspase recruitment domain family member 9
47 variants 47 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Caspase recruitment domain containing
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000187796
Associated Conditions (22)
Predisposition to invasive fungal disease due to CARD9 deficiency
CARD9-related disorder
Lymphoma
Thyroid cancer
nonmedullary
1
Melanoma
Lung cancer
Familial pancreatic carcinoma
Thymoma
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Sarcoma
Gastric cancer
Uterine carcinosarcoma
Cervical cancer
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Cholangiocarcinoma
Hepatocellular carcinoma
Nonpapillary renal cell carcinoma
+2 more conditions
Key Variants
RS114895119
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder, Lymphoma
Health Risk
RS141992399
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Familial pancreatic carcinoma, Sarcoma
Health Risk
RS142757984
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS143393026
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS1436505855
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS143884319
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS145052557
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS147340708
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS148158774
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS151211588
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS200458322
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
RS35051231
Conflicting classifications of pathogenicity
Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
Health Risk
All Variants (47)
RSID Category Clinical Significance Conditions
RS114895119 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder, Lymphoma
RS141992399 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Familial pancreatic carcinoma, Sarcoma
RS142757984 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS143393026 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1436505855 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS143884319 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS145052557 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS147340708 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases, Predisposition to invasive fungal disease due to CARD9 deficiency
RS148158774 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS151211588 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS200458322 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS35051231 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS369657798 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases, Predisposition to invasive fungal disease due to CARD9 deficiency
RS374115294 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases, Predisposition to invasive fungal disease due to CARD9 deficiency
RS528585158 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS542391727 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS745730969 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Inborn genetic diseases, Predisposition to invasive fungal disease due to CARD9 deficiency
RS759411705 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS760533705 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS770532797 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder, Predisposition to invasive fungal disease due to CARD9 deficiency
RS774391206 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder, Predisposition to invasive fungal disease due to CARD9 deficiency
RS778088966 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS921151054 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1272762412 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538654287 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS766530086 Health Risk Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS121918338 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1260364391 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1310355874 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1379376784 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1564367364 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1833240016 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2131441761 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2131443924 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538658638 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538665837 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS2538669014 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS398122363 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS766061901 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS768845190 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS921094576 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS746470735 Health Risk Pathogenic/Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS753050033 Health Risk Pathogenic/Likely pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS1342330215 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS398122364 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS768308018 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS775267971 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
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