ACTL6ADisease-causing germline mutation(s) (loss of function)
ACTL6BDisease-causing germline mutation(s)
ADGRL1Disease-causing germline mutation(s)
AGO1Disease-causing germline mutation(s)
AGO2Disease-causing germline mutation(s) (loss of function)
AP1G1Disease-causing germline mutation(s)
ATP2B1Disease-causing germline mutation(s)
ATP6V0A1Disease-causing germline mutation(s)
ATP9ADisease-causing germline mutation(s)
BAP1Disease-causing germline mutation(s)
BCORL1Disease-causing germline mutation(s)
BRWD3Disease-causing germline mutation(s)
CACNA1CDisease-causing germline mutation(s)
CAPRIN1Disease-causing germline mutation(s) (loss of function)
CCDC32Disease-causing germline mutation(s)
CDK8Disease-causing germline mutation(s)
CERT1Disease-causing germline mutation(s)
CHD5Disease-causing germline mutation(s) (loss of function)
CLCN3Disease-causing germline mutation(s)
CNOT1Disease-causing germline mutation(s)
CNOT3Disease-causing germline mutation(s)
CPSF3Disease-causing germline mutation(s)
CSNK2A1Disease-causing germline mutation(s)
CTR9Disease-causing germline mutation(s)
DDX6Disease-causing germline mutation(s)
DLG4Disease-causing germline mutation(s)
DOCK3Disease-causing germline mutation(s) (loss of function)
DOHHDisease-causing germline mutation(s)
DPYSL5Disease-causing germline mutation(s) (loss of function)
EEF1A2Disease-causing germline mutation(s)
EIF4A2Disease-causing germline mutation(s) (loss of function)
EIF5ADisease-causing germline mutation(s) (loss of function)
EMC10Disease-causing germline mutation(s)
FAM50ADisease-causing germline mutation(s)
FBXO11Disease-causing germline mutation(s)
FBXW11Disease-causing germline mutation(s)
FBXW7Disease-causing germline mutation(s)
GNB2Disease-causing germline mutation(s)
GRIA4Disease-causing germline mutation(s)
GRIK2Disease-causing germline mutation(s) (loss of function)
HNRNPCDisease-causing germline mutation(s)
HS2ST1Disease-causing germline mutation(s)
HTTDisease-causing germline mutation(s)
HUWE1Disease-causing germline mutation(s)
JARID2Disease-causing germline mutation(s)
KAT8Disease-causing germline mutation(s)
KDM2BDisease-causing germline mutation(s)
KDM4BDisease-causing germline mutation(s)
KDM6BDisease-causing germline mutation(s) (loss of function)
KMT2BDisease-causing germline mutation(s)
KMT2EDisease-causing germline mutation(s)
LMBRD2Disease-causing germline mutation(s)
MADDDisease-causing germline mutation(s)
MAN2C1Disease-causing germline mutation(s)
MAPK8IP3Disease-causing germline mutation(s)
MARK2Disease-causing germline mutation(s)
MED12LDisease-causing germline mutation(s)
MED13Disease-causing germline mutation(s)
MSL2Disease-causing germline mutation(s)
MTSS2Disease-causing germline mutation(s)
MYCBP2Disease-causing germline mutation(s) (loss of function)
NAA15Disease-causing germline mutation(s) (loss of function)
NCKAP1Disease-causing germline mutation(s)
NOVA2Disease-causing germline mutation(s)
NRCAMDisease-causing germline mutation(s)
NTNG1Disease-causing germline mutation(s)
NTNG2Disease-causing germline mutation(s)
OTUD5Disease-causing germline mutation(s)
PAK3Disease-causing germline mutation(s) (loss of function)
PALS1Disease-causing germline mutation(s)
PCDHGC4Disease-causing germline mutation(s)
PGM2L1Disease-causing germline mutation(s)
PLXNA1Disease-causing germline mutation(s)
PRPF8Disease-causing germline mutation(s) (loss of function)
PSMD12Disease-causing germline mutation(s)
PTPN23Disease-causing germline mutation(s)
PUS7Disease-causing germline mutation(s)
RAC3Disease-causing germline mutation(s)
RALADisease-causing germline mutation(s)
RLIMDisease-causing germline mutation(s)
RNF2Disease-causing germline mutation(s)
RORADisease-causing germline mutation(s)
SCAF4Disease-causing germline mutation(s) (loss of function)
SETD1ADisease-causing germline mutation(s)
SETD5Disease-causing germline mutation(s)
SIAH1Disease-causing germline mutation(s)
SPTBN1Disease-causing germline mutation(s)
SRCAPDisease-causing germline mutation(s)
SVBPDisease-causing germline mutation(s) (loss of function)
SYNCRIPDisease-causing germline mutation(s)
TAF4Disease-causing germline mutation(s) (loss of function)
TANC2Disease-causing germline mutation(s)
TBR1Disease-causing germline mutation(s)
TCF20Disease-causing germline mutation(s)
TCF7L2Disease-causing germline mutation(s)
TIAM1Disease-causing germline mutation(s) (loss of function)
TMEM222Disease-causing germline mutation(s)
TNRC6BDisease-causing germline mutation(s)
TRAPPC4Disease-causing germline mutation(s)
TRIP12Disease-causing germline mutation(s)
TRMT1Disease-causing germline mutation(s)
UBR7Disease-causing germline mutation(s)
UPF1Disease-causing germline mutation(s)
WARS1Disease-causing germline mutation(s)
WASF1Disease-causing germline mutation(s)
WDFY3Disease-causing germline mutation(s) (loss of function)
XPO1Disease-causing germline mutation(s)
ZMIZ1Disease-causing germline mutation(s)
ZMYM2Disease-causing germline mutation(s) (loss of function)
ZNF142Disease-causing germline mutation(s)
ZNF292Disease-causing germline mutation(s)
ZNF526Disease-causing germline mutation(s)
ZNF699Disease-causing germline mutation(s)