These gain-of-function mutations have been identified as germline mutations, meaning variations in the lineage of germ cells. Most mutations identified were de novo, meaning originating in the symptomatic patient and not inherited from either parent. However, multiple cases of inheritance have also been identified. In 2 families, family members carrying a<unk>  mutation were asymptomatic or had a less severe phenotype, indicating that there are carriers of these mutations who display autosomal dominant inheritance with incomplete penetrance. Children of a parent who carries a<unk>  mutation has a 50% chance of inheriting the mutation. Within a family, each child’s risk of inheriting the mutated<unk>  gene is independent of whether other siblings have the mutation. In other words, if the first three children a family have the mutation, the fourth child has the same 50% risk of inheriting the mutation. Children who do not inherit the abnormal gene will not develop this syndrome or pass on the mutation.
STAT3 GOF
HL23V
Philadelphia chromosome
Tbx18 transduction
T790M
ABL 
Fusion gene
GcMAF