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: rs796053403
rs796053403
TBC1D24
16 2496622 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2014 2017
dbSNP: rs267607104
rs267607104
TBC1D24
1.000 0.040 16 2496899 missense variant T/C snv
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.800 1.000 2 2010 2010
dbSNP: rs397514713
rs397514713
TBC1D24
1.000 16 2496834 missense variant T/C snv
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 1.000 2 2013 2016
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs863223337
rs863223337
TBC1D24
1.000 16 2496624 missense variant T/C snv
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 1.000 2 2013 2016
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: rs1057524191
rs1057524191
TBC1D24
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
TBC1D24
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