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HMBS
- Acute Intermittent Porphyria
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SS18
- Synovial Sarcoma
SCN1B
- Generalized Epilepsy With Febrile Seizures Plus
SF3B1
- Uveal Melanoma
FREM1
- Trigonocephaly
CYSLTR2
- Uveal Melanoma
BCL2
- Synovial Sarcoma
- Uveal Melanoma
- Primary Ovarian Insufficiency
PLCB4
- Uveal Melanoma
BMP15
- Primary Ovarian Insufficiency
NR5A1
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
FMR1
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
VIM
- Synovial Sarcoma
- Uveal Melanoma