RS121918457 PTPN11
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What This Variant Does
"aka c.1403C>
Associated Conditions
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Noonan syndrome with multiple lentigines
Noonan syndrome
Metachondromatosis
Juvenile myelomonocytic leukemia
PTPN11-related disorder
Hypertrophic cardiomyopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Noonan syndrome with multiple lentigines
Other Variants in PTPN11