Variant: rs1057518074 

    present in Gene: KMT2A
    present in Chromosome: 11
    Position on Chromosome: 118478096
    Alleles of this Variant: G/A

rs1057518074 in KMT2A gene and Growth Deficiency and Mental Retardation with Facial Dysmorphism PMID 27441994 2017 Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.