Source: CLINVAR

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: rs1057519629
rs1057519629
TBC1D24
16 2498332 missense variant C/G;T snv 2.1E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 1.000 1 2016 2016
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
dbSNP: rs1057524191
rs1057524191
TBC1D24
0.925 0.040 16 2496269 stop gained C/T snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs1555501140
rs1555501140
TBC1D24
0.925 0.040 16 2496319 frameshift variant C/- delins
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs1555501140
rs1555501140
TBC1D24
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
TBC1D24
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: rs1555501320
rs1555501320
TBC1D24
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
TBC1D24
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
TBC1D24
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
TBC1D24
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: rs1567413218
rs1567413218
TBC1D24
0.925 0.040 16 2498385 stop gained C/G snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 0
dbSNP: rs1567413218
rs1567413218
TBC1D24
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: rs199700840
rs199700840
TBC1D24
1.000 16 2497026 missense variant G/A;C snv 1.9E-04; 8.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 1.000 1 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: 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: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		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: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.800 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: 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: 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: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs202162520
rs202162520
TBC1D24
1.000 0.040 16 2496317 missense variant C/A;T snv 4.0E-06; 1.9E-03
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs267607103
rs267607103
TBC1D24
1.000 0.040 16 2496587 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		0.810 1.000 0 2010 2010