GPC3
Simpson-Golabi-Behmel syndrome
XL
GPR101
Pituitary adenoma, growth hormone secreting, 2
XL
GREM1
Hereditary mixed polyposis syndrome
AD/AR
HAVCR2
HNF1A
Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell, Liver adenomatosis
AD
HOXB13
Familial prostate cancer
AD/AR
HRAS
Costello syndrome, Congenital myopathy with excess of muscle spindles
AD
IKZF1
Immunodeficiency, common variable, 13
AD
KIF1B
Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type 2A1
AD
KIT
Gastrointestinal stromal tumor, Piebaldism
AD
KITLG
Hyperpigmentation with or without hypopigementation, familial progressive, Skin/hair/eye pigmentation, variation in, 7
AD
KRAS*
Noonan syndrome, Cardiofaciocutaneous syndrome
AD
LZTR1
Schwannomatosis, Noonan syndrome
AD/AR
MAP2K1
Cardiofaciocutaneous syndrome
AD
MAP2K2
Cardiofaciocutaneous syndrome
AD
MAX
Pheochromocytoma
AD
MEN1
Hyperparathyroidism, familial primary, Multiple endocrine neoplasia
AD
MET
Deafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, susceptibility to
AD/AR
MITF
Tietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)
AD/AR
MLH1
Muir-Torre syndrome, Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
MLH3
Colorectal cancer, hereditary nonpolyposis, Endometrial carcinoma
AD/AR
MRE11A
Ataxia-telangiectasia-like disorder-1
AR
MSH2
Muir-Torre syndrome, Endometrial cancer, Colorectal cancer, hereditary nonpolyposis,, Mismatch repair cancer syndrome
AD/AR
MSH3
Endometrial carcinoma, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
AD
MSH6
Endometrial cancer, Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
