MUTYH
Familial adenomatous polyposis,, Colorectal adenomatous polyposis, with pilomatricomas
AR
NBN
Breast cancer, Nijmegen breakage syndrome
AD/AR
NF1*
Watson syndrome, Neurofibromatosis, Neurofibromatosis-Noonan syndrome
AD
NF2
Schwannomatosis, Neurofibromatosis
AD
NRAS
Noonan syndrome
AD
NSD1
Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndrome
AD
NSUN2
Dubowitz syndrome, Non-syndromic intellectual disability
AR
NTHL1
Familial adenomatous polyposis 3
AR
PALB2
Fanconi anemia, Pancreatic cancer, Breast cancer
AD/AR
PAX5
Pre-B cell acute lymphoblastic leukemia
AD
PDGFRA#
Gastrointestinal stromal tumor
AD
PHOX2B
Central hypoventilation syndrome, congenital, Neuroblastoma, susceptiblity to, Neuroblastoma with Hirschsprung disease
AD
PMS1#
Hereditary nonpolyposis colon cancer
AD/AR
PMS2*
Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
POLD1
Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, Immunodeficiency
AD/AR
POLE
Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
AD/AR
POLH*
Xeroderma pigmentosum, variant type
AR
POT1
Glioma susceptibility 9, Melanoma, cutaneous malignant, susceptibility to 10
AD
PPM1D
Hereditary breast cancer
AD
PRF1
Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis
AR
PRKAR1A
Myxoma, intracardiac, Acrodysostosis, Pigmented nodular adrenocortical disease, Carney complex
AD
PTCH1
Basal cell nevus syndrome
AD
PTEN*
Bannayan-Riley-Ruvalcaba syndrome, Lhermitte-Duclos syndrome, Cowden syndrome
AD
PTPN11
Noonan syndrome, Metachondromatosis
AD
RAD50
Breast cancer, Nijmegen breakage syndrome-like disorder
AD/AR
