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: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.700 0
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C4023175
Disease: Submucous cleft soft palate
Submucous cleft soft palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		0.700 0
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs867537050
rs867537050 		12 49050951 missense variant A/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040960
rs886040960 		1.000 0.120 12 49030395 frameshift variant G/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057516039
rs1057516039 		0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		0.700 1.000 1 2016 2016
dbSNP: rs1064211
rs1064211 		1.000 0.040 12 49026420 synonymous variant G/A;C snv 1.6E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1555186842
rs1555186842 		1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 25 1988 2017
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1251778848
rs1251778848 		0.790 0.400 12 49039277 stop gained G/A snv
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
Nasogastric tube feeding in infancy 		0.700 0
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: 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: rs1057517992
rs1057517992 		0.925 0.240 12 49031861 stop gained G/A snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
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: 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: 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: 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: 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: 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: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 25 1988 2017