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SSX2
- Synovial Sarcoma
- Myxoid Liposarcoma
SSX1
- Synovial Sarcoma
RAI1
- Smith–magenis Syndrome
- Epilepsy
SS18
- Synovial Sarcoma
- Myxoid Liposarcoma
MAGEL2
- Prader–willi Syndrome
SCN8A
- Epilepsy
SNRPN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Edwards Syndrome
- Epilepsy
- Mantle Cell Lymphoma
- Esthesioneuroblastoma
- Uveal Melanoma
ATM
- Triple X Syndrome
- Epilepsy
- Mantle Cell Lymphoma
- Secondary Hypertension
- Uveal Melanoma
GNAQ
- Prader–willi Syndrome
- Epilepsy
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
RPS14
- Chromosome 5q Deletion Syndrome
IQSEC2
- Smith–magenis Syndrome
- Epilepsy
NDN
- Prader–willi Syndrome
GRIN2B
- Smith–magenis Syndrome
- Epilepsy
ABCB1
- Synovial Sarcoma
- Epilepsy
- Uveal Melanoma
- Ankylosing Spondylitis
DDIT3
- Epilepsy
- Myxoid Liposarcoma
SLC12A5
- Epilepsy
PCDH19
- Epilepsy