KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 18; N. variants: 3
Disease: Global developmental delay ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0