NF2
neurofibromatosis type 2
NTHL1
Familial adenomatous polyposis
PALB2
Fanconi anaemia N; breast cancer susceptibility
PDGFRA
familial gastrointestinal stromal tumour
PHOX2B
familial neuroblastoma
Congenital central hypoventilation syndrome
PMS1
hereditary non-polyposis colorectal cancer
PMS2
hereditary non-polyposis colorectal cancer; Turcot syndrome
POLD1
Lynch syndrome
PRKAR1A
Carney complex
PTCH1
nevoid basal cell carcinoma syndrome
PTEN
Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome
PTPN13
Familial Hepatocellular Carcinoma
RB1
familial retinoblastoma
RECQL4
Rothmund-Thompson syndrome
RET
multiple endocrine neoplasia 2A/2B
Hirschsprung disease
RFWD3
Fanconi anemia W
SBDS
Schwachman-Diamond syndrome
SDHA
paragangliomas-5 (PGL5)
SDHAF2
familial paraganglioma
SDHB
familial paraganglioma
SDHC
familial paraganglioma
SDHD
familial paraganglioma
SETBP1
Schinzel-Giedion syndrome
SMAD4
juvenile polyposis
SMARCB1
rhabdoid predisposition syndrome
