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MAGEL2
- Prader–willi Syndrome
RAI1
- Smith–magenis Syndrome
BAP1
- Uveal Melanoma
- Monosomy
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
- Monosomy
SSX2
- Synovial Sarcoma
- Myxoid Liposarcoma
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
SSX1
- Synovial Sarcoma
GNA11
- Uveal Melanoma
- Monosomy
SS18
- Synovial Sarcoma
- Myxoid Liposarcoma
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Smith–magenis Syndrome
RPS14
- Chromosome 5q Deletion Syndrome
- Monosomy
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SF3B1
- Uveal Melanoma
- Monosomy
NDN
- Prader–willi Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
DDIT3
- Myxoid Liposarcoma
FUS
- Myxoid Liposarcoma
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome