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: 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: 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: 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: rs1555184787
rs1555184787 		1.000 12 49022591 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs1555184787
rs1555184787 		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 		1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555186842
rs1555186842 		1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 25 1988 2017
dbSNP: rs1555187440
rs1555187440 		1.000 12 49031293 frameshift variant TT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs1555187440
rs1555187440 		1.000 12 49031293 frameshift variant TT/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
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: rs1555188623
rs1555188623 		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 		1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017
dbSNP: rs1555194443
rs1555194443 		1.000 12 49044766 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 25 1988 2017
dbSNP: rs1555194443
rs1555194443 		1.000 12 49044766 frameshift variant G/- delins
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