KMT2D, lysine methyltransferase 2D, 8085

N. diseases: 320; N. variants: 266
Source: ALL
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: rs1555188379
rs1555188379 		12 49032761 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908 		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: rs574622908
rs574622908 		1.000 12 49046358 stop gained G/C;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685 		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: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690 		0.925 0.120 12 49031255 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690 		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 		1.000 12 49026431 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs794727688
rs794727688 		1.000 12 49026431 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1388523736
rs1388523736 		1.000 0.120 12 49022122 missense variant C/T snv 4.0E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs1555185217
rs1555185217 		1.000 0.120 12 49024578 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2010 2014
dbSNP: rs1555185701
rs1555185701 		1.000 0.120 12 49026401 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs1555185875
rs1555185875 		1.000 0.120 12 49026878 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs200088180
rs200088180 		1.000 0.120 12 49051743 missense variant G/A;C;T snv 1.2E-05; 4.6E-04
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2010 2014
dbSNP: rs267607237
rs267607237 		1.000 0.120 12 49026430 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 9 2010 2014
dbSNP: rs267607238
rs267607238 		1.000 0.120 12 49022301 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs763347763
rs763347763 		1.000 0.120 12 49038835 missense variant G/C;T snv 6.1E-06; 6.1E-06
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs776242478
rs776242478 		1.000 0.120 12 49052055 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs778418522
rs778418522 		1.000 0.120 12 49031647 missense variant G/A snv 3.9E-05 4.9E-05
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 9 2010 2014
dbSNP: rs398123724
rs398123724 		1.000 0.120 12 49026824 missense variant G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 6 2009 2016
dbSNP: rs886043497
rs886043497 		1.000 0.120 12 49026505 missense variant C/T snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 5 2011 2017
dbSNP: rs398123721
rs398123721 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2010 2016
dbSNP: rs587783685
rs587783685 		0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2013 2017