DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
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: rs121908531
rs121908531 		0.851 0.080 12 32731118 missense variant C/A;G snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 1.000 7 2007 2018
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 1.000 7 2007 2018
dbSNP: rs879255685
rs879255685 		1.000 12 32731019 missense variant G/A snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 1.000 7 2007 2018
dbSNP: rs886037861
rs886037861 		1.000 12 32731018 missense variant G/A snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.800 1.000 7 2007 2018
dbSNP: rs1555119216
rs1555119216 		1.000 0.120 12 32713327 missense variant C/A snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2017 2017
dbSNP: rs1555229948
rs1555229948 		1.000 0.120 12 32679368 missense variant A/C snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2017 2017
dbSNP: rs879255688
rs879255688 		1.000 12 32701418 missense variant A/G snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 1.000 7 2007 2018
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C0877017
Disease: Generalized tonic-clonic seizures with focal onset
Generalized tonic-clonic seizures with focal onset 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		0.700 1.000 2 2016 2016
dbSNP: rs863223953
rs863223953 		0.776 0.240 12 32731362 missense variant C/T snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253874
rs879253874 		1.000 12 32731492 missense variant G/T snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 1.000 1 2007 2007
dbSNP: rs1057518694
rs1057518694 		1.000 12 32731069 missense variant G/A snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 0
dbSNP: rs1565548029
rs1565548029 		0.925 0.120 12 32742666 missense variant A/G snv
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1565548029
rs1565548029 		0.925 0.120 12 32742666 missense variant A/G snv
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 0
dbSNP: rs1565548029
rs1565548029 		0.925 0.120 12 32742666 missense variant A/G snv
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		0.700 0
dbSNP: rs1057518694
rs1057518694 		1.000 12 32731069 missense variant G/A snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1156401234
rs1156401234 		12 32740421 missense variant G/A snv 4.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121908531
rs121908531 		0.851 0.080 12 32731118 missense variant C/A;G snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs121908531
rs121908531 		0.851 0.080 12 32731118 missense variant C/A;G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2012 2012