RS397507547 PTPN11
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What This Variant Does
"aka c.1510A>
Associated Conditions
RASopathy
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder
RASopathy
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Other Variants in PTPN11