* Phenotype mapping Key

1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype

Gene Symbol Chromosomal LocationGene MIM number Mapping MethodPhenotype Phenotype MIM number Phenotype Mapping Key
CARD117p22.2607210R, REcB-cell expansion with NFKB and T-cell anergy, 616452 (3)6164523
CARD117p22.2607210R, REcImmunodeficiency 11A, 615206 (3)6152063
CARD117p22.2607210R, REcImmunodeficiency 11B with atopic dermatitis, 617638 (3)6176383