TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
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: rs1057524191
rs1057524191 		0.925 0.040 16 2496269 stop gained C/T snv
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 0
dbSNP: rs1057524191
rs1057524191 		0.925 0.040 16 2496269 stop gained C/T snv
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs1057524191
rs1057524191 		0.925 0.040 16 2496269 stop gained C/T snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		Nervous System Diseases 0.700 0
dbSNP: rs1555501140
rs1555501140 		0.925 0.040 16 2496319 frameshift variant C/- delins
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 0
dbSNP: rs1555501140
rs1555501140 		0.925 0.040 16 2496319 frameshift variant C/- delins
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs1555501140
rs1555501140 		0.925 0.040 16 2496319 frameshift variant C/- delins
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		Nervous System Diseases 0.700 0
dbSNP: rs1555501320
rs1555501320 		1.000 16 2497067 missense variant A/C snv
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs1567411469
rs1567411469 		0.925 16 2496494 stop gained A/T snv
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 0
dbSNP: rs1567411469
rs1567411469 		0.925 16 2496494 stop gained A/T snv
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs1567413218
rs1567413218 		0.925 0.040 16 2498385 stop gained C/G snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		Nervous System Diseases 0.700 0
dbSNP: rs1567413218
rs1567413218 		0.925 0.040 16 2498385 stop gained C/G snv
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 0
dbSNP: rs1567413218
rs1567413218 		0.925 0.040 16 2498385 stop gained C/G snv
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs397514714
rs397514714 		1.000 16 2496616 stop gained C/A snv
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 0
dbSNP: rs398122941
rs398122941 		1.000 16 2497709 coding sequence variant GT/- delins
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 0
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 0
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		Nervous System Diseases 0.700 0
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		0.700 0
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 0
dbSNP: rs545689324
rs545689324 		1.000 0.040 16 2496957 missense variant G/A;T snv 4.0E-05; 4.0E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.700 0
dbSNP: rs564477999
rs564477999 		1.000 0.080 16 2500464 missense variant C/T snv 2.7E-05 2.8E-05
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs748759187
rs748759187 		1.000 0.040 16 2497014 missense variant C/G;T snv 4.0E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.700 0
dbSNP: rs761918906
rs761918906 		1.000 0.080 16 2496377 inframe deletion ATCGTGGGCAAG/- delins 1.2E-04 2.8E-05
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs765965968
rs765965968 		0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		Nervous System Diseases 0.700 0
dbSNP: rs765965968
rs765965968 		0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs765965968
rs765965968 		0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0