KMT2E, lysine methyltransferase 2E, 55904

N. diseases: 18; N. variants: 3
Source: CLINVAR ×
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: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1696701
Disease: Skin-picking
Skin-picking 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0349450
Disease: Soiling
Soiling 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1851734
Disease: Metopic ridge
Metopic ridge 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0152421
Disease: Macrotia
Macrotia 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1562927768
rs1562927768 		0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1562928193
rs1562928193 		1.000 0.200 7 105102045 frameshift variant -/TA delins
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1562931936
rs1562931936 		1.000 7 105107527 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0