Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555185301
rs1555185301
KMT2D
1.000 0.120 12 49024810 frameshift variant -/A ins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs35584294
rs35584294
KMT2D
1.000 0.120 12 49040288 frameshift variant -/A delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs1555190375
rs1555190375
KMT2D
1.000 0.120 12 49037753 frameshift variant -/A delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1565819425
rs1565819425
KMT2D
1.000 12 49051913 frameshift variant -/A delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs797045660
rs797045660
KMT2D
1.000 0.120 12 49050633 frameshift variant -/A ins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555188623
rs1555188623
KMT2D
1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555188623
rs1555188623
KMT2D
1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555188026
rs1555188026
KMT2D
1.000 0.120 12 49032158 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555192051
rs1555192051
KMT2D
1.000 0.120 12 49040290 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555192451
rs1555192451
KMT2D
1.000 0.120 12 49040803 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555192667
rs1555192667
KMT2D
1.000 0.120 12 49041096 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs797045667
rs797045667
KMT2D
1.000 0.120 12 49044504 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs797045670
rs797045670
KMT2D
1.000 0.120 12 49053478 frameshift variant -/C delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs797045671
rs797045671
KMT2D
1.000 0.120 12 49038880 splice acceptor variant -/CTGTTGTTGCTGCCACAGTTGTTGCTGTTGC delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555184787
rs1555184787
KMT2D
1.000 12 49022591 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555184787
rs1555184787
KMT2D
1.000 12 49022591 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555192457
rs1555192457
KMT2D
1.000 0.120 12 49040814 frameshift variant -/G delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555194510
rs1555194510
KMT2D
1.000 0.120 12 49044894 frameshift variant -/G delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555195118
rs1555195118
KMT2D
1.000 0.120 12 49046631 frameshift variant -/G delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555196984
rs1555196984
KMT2D
1.000 0.120 12 49051419 frameshift variant -/G delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1565817210
rs1565817210
KMT2D
1.000 0.120 12 49051365 frameshift variant -/G delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555198491
rs1555198491
KMT2D
1.000 0.120 12 49054046 frameshift variant -/GC delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555191177
rs1555191177
KMT2D
1.000 0.120 12 49038878 frameshift variant -/GCTG delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555186842
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 25 1988 2017
dbSNP: rs1555186842
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017