TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
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: rs886041014
rs886041014
1.000 0.120 19 6495531 missense variant A/C snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs886041022
rs886041022
1.000 0.120 19 6495318 missense variant A/C snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs886041020
rs886041020
1.000 0.120 19 6495336 missense variant A/G snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs886041018
rs886041018
1.000 0.120 19 6495400 missense variant A/G;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs886041009
rs886041009
1.000 0.120 19 6495783 missense variant C/A snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs886041012
rs886041012
1.000 0.120 19 6495599 missense variant C/A snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs886041010
rs886041010
1.000 0.120 19 6495768 missense variant C/A;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs886041021
rs886041021
1.000 0.120 19 6495327 missense variant C/A;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
Nervous System Diseases 0.700 0
dbSNP: rs587777467
rs587777467
1.000 0.120 19 6502208 missense variant C/G;T snv 5.7E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs756762431
rs756762431
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs756762431
rs756762431
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C4022595
Disease: Tetraplegia/tetraparesis
Tetraplegia/tetraparesis
0.700 0
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
Aplasia/Hypoplasia of the cerebellum
0.700 0
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
Abnormal basal ganglia MRI signal intensity
0.700 0
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
0.700 0
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs886039470
rs886039470
1.000 0.120 19 6495714 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017