Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1335526524
rs1335526524
TBC1D24
1.000 0.080 16 2498249 missense variant A/G snv 7.0E-06
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs483352866
rs483352866
TBC1D24
0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.010 1.000 1 2014 2014
dbSNP: rs483352866
rs483352866
TBC1D24
0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 1.000 1 2014 2014
dbSNP: rs765965968
rs765965968
TBC1D24
0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.010 1.000 1 2019 2019
dbSNP: rs770899419
rs770899419
TBC1D24
1.000 0.280 16 2498384 missense variant A/G snv 4.3E-06
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs796053403
rs796053403
TBC1D24
16 2496622 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2014 2017
dbSNP: rs376712059
rs376712059
TBC1D24
0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059
TBC1D24
0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059
TBC1D24
0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059
TBC1D24
0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059
TBC1D24
0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 1.000 3 2015 2017
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-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 1.000 2 2014 2016
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 1.000 2 2014 2016
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 2 2014 2014