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: rs1555188379
rs1555188379
KMT2D
12 49032761 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C4023175
Disease: Submucous cleft soft palate
Submucous cleft soft palate 		0.700 0
dbSNP: rs1251778848
rs1251778848
KMT2D
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: rs1251778848
rs1251778848
KMT2D
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
KMT2D
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
KMT2D
0.790 0.400 12 49039277 stop gained G/A snv
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		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: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2016 2016
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: rs1057516039
rs1057516039
KMT2D
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: rs1057516039
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 1 2016 2016
dbSNP: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 25 1988 2017
dbSNP: rs587783690
rs587783690
KMT2D
0.925 0.120 12 49031255 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: 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: rs1057517992
rs1057517992
KMT2D
0.925 0.240 12 49031861 stop gained G/A snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 0