RAD51C
Fanconi anemia, Breast-ovarian cancer, familial
AD/AR
RAD51D
Ovarian cancer, familial
AD
RAF1
LEOPARD syndrome, Noonan syndrome, Dilated cardiomyopathy (DCM)
AD
RASA2
Noonan syndrome
AD
RB1
Retinoblastoma
AD
RECQL*
Breast cancer
AD
RECQL4
Baller-Gerold syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome
AR
REST
Fibromatosis, gingival, 5
AD
RET
Hirschsprung disease, Central hypoventilation syndrome, congenital, Pheochromocytoma, Medullary thyroid carcinoma, Multiple endocrine neoplasia
AD/AR
RHBDF2
Tylosis with esophageal cancer
AD
RIT1
Noonan syndrome
AD
RPS20
Colorectal cancer
AD
RRAS
Noonan-syndrome like phenotype
AD/AR
RUNX1
Platelet disorder, familial, with associated myeloid malignancy
AD
SAMD9
Mirage syndrome, Tumoral calcinosis, normophosphatemic
AD/AR
SAMD9L
Ataxia-pancytopenia syndrome
AD
SBDS*
Aplastic anemia, Shwachman-Diamond syndrome, Severe spondylometaphyseal dysplasia
AR
SDHA*
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Gastrointestinal stromal tumor, Paragangliomas, Dilated cardiomyopathy (DCM), Cardiomyopathy, dilated, 1GG
AD/AR
SDHAF2
Paragangliomas
AD
SDHB
Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas, Cowden-like syndrome
AD
SDHC
Paraganglioma and gastric stromal sarcoma, Gastrointestinal stromal tumor, Paragangliomas
AD
SDHD#
Paraganglioma and gastric stromal sarcoma, Pheochromocytoma, Paragangliomas, Carcinoid tumors, intestinal, Cowden syndrome, Mitochondrial complex II deficiency
AD
SHOC2
Noonan-like syndrome with loose anagen hair
AD
SLX4
Fanconi anemia
AR
SMAD4
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasia
AD
