Variant: rs1057516039 

    present in Gene: KMT2D
    present in Chromosome: 12
    Position on Chromosome: 49029400
    Alleles of this Variant: C/T

rs1057516039 in KMT2D gene and Cleft palate, isolated PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Kabuki make-up syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Partially duplicated kidney PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Ventricular Septal Defects PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.