KIF2A, kinesin family member 2A, 3796

N. diseases: 81; 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: rs1554042050
rs1554042050 		1.000 5 62361328 missense variant C/T snv
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1858091
Disease: Long fingers
Long fingers 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0266483
Disease: Pachygyria
Pachygyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C3150613
Disease: Long toe
Long toe 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		Nervous System Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4021167
Disease: Tapered toe
Tapered toe 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C4023477
Disease: EEG with focal spike waves
EEG with focal spike waves 		0.700 0
dbSNP: rs1561273261
rs1561273261 		0.790 0.160 5 62361307 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1229237874
rs1229237874 		1.000 0.080 5 62352594 missense variant G/C snv 7.0E-06
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs587777033
rs587777033 		1.000 5 62361330 missense variant C/G;T snv 4.2E-06
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.800 1.000 1 2013 2013
dbSNP: rs587777034
rs587777034 		0.882 0.120 5 62361319 missense variant G/A snv
CUI: C3809414
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 		0.800 1.000 1 2013 2013
dbSNP: rs1301064
rs1301064 		1.000 0.040 5 62477986 intron variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs152185
rs152185 		1.000 0.040 5 62425147 intron variant C/T snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs152191
rs152191 		1.000 0.040 5 62407706 intron variant G/A;T snv 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs153864
rs153864 		1.000 0.040 5 62425115 intron variant T/G snv 6.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017