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: rs1565779530
rs1565779530
KMT2D
1.000 12 49033658 stop gained G/A snv
CUI: C1332865
Disease: Cavernous Sinus Meningioma
Cavernous Sinus Meningioma 		0.700 0
dbSNP: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 1.000 1 2016 2016
dbSNP: rs1565789104
rs1565789104
KMT2D
0.925 0.120 12 49038730 frameshift variant G/- delins
CUI: C3151078
Disease: Complement Component C1s Deficiency
Complement Component C1s Deficiency 		0.700 0
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: 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
dbSNP: rs1555187440
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555194443
rs1555194443
KMT2D
1.000 12 49044766 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908
KMT2D
1.000 12 49046358 stop gained G/C;T snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690
KMT2D
0.925 0.120 12 49031255 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs794727688
rs794727688
KMT2D
1.000 12 49026431 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		0.700 0
dbSNP: rs398123724
rs398123724
KMT2D
1.000 0.120 12 49026824 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.800 1.000 6 2009 2016
dbSNP: rs886043497
rs886043497
KMT2D
1.000 0.120 12 49026505 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.800 1.000 5 2011 2017
dbSNP: rs398123721
rs398123721
KMT2D
1.000 0.120 12 49027256 stop gained G/A;C snv 5.2E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 4 2010 2016
dbSNP: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 4 2013 2017
dbSNP: rs398123744
rs398123744
KMT2D
1.000 0.120 12 49048065 frameshift variant AT/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 3 2014 2016
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: rs398123753
rs398123753
KMT2D
1.000 0.120 12 49041175 frameshift variant A/- del
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 2 2015 2017
dbSNP: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057518571
rs1057518571
KMT2D
1.000 0.120 12 49040359 stop gained G/A snv 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057519595
rs1057519595
KMT2D
1.000 0.120 12 49050594 frameshift variant A/- del 7.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 1.000 1 2013 2013
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: 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