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: rs886041398
rs886041398
KMT2D
1.000 0.120 12 49022063 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783704
rs587783704
KMT2D
1.000 0.120 12 49022073 inframe deletion GAT/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555184624
rs1555184624
KMT2D
1.000 0.120 12 49022094 frameshift variant T/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783703
rs587783703
KMT2D
1.000 0.120 12 49022123 frameshift variant TTAG/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555184635
rs1555184635
KMT2D
1.000 0.120 12 49022127 frameshift variant A/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783702
rs587783702
KMT2D
1.000 0.120 12 49022151 missense variant C/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs793888515
rs793888515
KMT2D
1.000 0.120 12 49022152 splice acceptor variant C/G snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs587783700
rs587783700
KMT2D
1.000 0.120 12 49022281 missense variant T/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs267607239
rs267607239
KMT2D
1.000 0.120 12 49022332 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1422752351
rs1422752351
KMT2D
1.000 0.120 12 49022350 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 2 2011 2016
dbSNP: rs1555184777
rs1555184777
KMT2D
1.000 0.120 12 49022588 splice donor variant A/G snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1555184782
rs1555184782
KMT2D
1.000 0.120 12 49022589 splice donor variant C/A snv
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: rs398123734
rs398123734
KMT2D
1.000 0.120 12 49022633 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555184893
rs1555184893
KMT2D
1.000 0.120 12 49022803 frameshift variant G/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555185217
rs1555185217
KMT2D
1.000 0.120 12 49024578 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.800 1.000 0 2010 2014
dbSNP: rs1565756106
rs1565756106
KMT2D
1.000 0.120 12 49024611 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783699
rs587783699
KMT2D
1.000 0.120 12 49024687 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555185299
rs1555185299
KMT2D
1.000 0.120 12 49024809 splice donor variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
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: rs1565756561
rs1565756561
KMT2D
1.000 0.120 12 49024828 frameshift variant AC/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783698
rs587783698
KMT2D
1.000 0.120 12 49024887 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs587783697
rs587783697
KMT2D
1.000 0.120 12 49024940 stop gained C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1555185610
rs1555185610
KMT2D
1.000 0.120 12 49026234 frameshift variant TT/- delins
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0