BRCA2
Fanconi anemia, Medulloblastoma, Glioma susceptibility, Pancreatic cancer, Wilms tumor, Breast-ovarian cancer, familial
AD/AR
BRIP1
Fanconi anemia, Breast cancer
AD/AR
BUB1B
Mosaic variegated aneuploidy syndrome, Premature chromatid separation trait
AD/AR
CBL
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
AD
CD70
Primary immunodeficiency
AR
CDC73
Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome
AD
CDH1
CDH1-related cancer, Blepharocheilodontic syndrome 1
AD
CDK4
Melanoma, cutaneous malignant
AD
CDKN1B
Multiple endocrine neoplasia
AD
CDKN1C
Beckwith-Wiedemann syndrome, IMAGE syndrome
AD
CDKN2A
Melanoma, familial, Melanoma-pancreatic cancer syndrome
AD
CEBPA
Acute myeloid leukemia, familial
AD
CEP57
Mosaic variegated aneuploidy syndrome
AR
CHEK2*
Li-Fraumeni syndrome
AD/AR
CTNNA1
Macular dystrophy, patterned 2
AD
CYLD
Spiegler-Brooke syndrome, Trichoepithelioma, multiple, Cylindromatosis
AD
DDB2
Xeroderma pigmentosum
AR
DDX41
Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
AD
DICER1*
DICER1 syndrome
AD
DIS3L2*
Perlman syndrome
AR
DKC1
Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenita
XL
EFL1*
Shwachman-Diamond syndrome
EGFR
Lung cancer, familial, susceptibilty to, Inflammatory skin and bowel disease, neonatal, Acute myeloid leukemia, familial
AD/AR
ELANE
Neutropenia
AD
EPCAM
Diarrhea 5, with tufting enteropathy, congenital, Colorectal cancer, hereditary nonpolyposis
AD/AR
