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: rs796053403
rs796053403
TBC1D24
16 2496622 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2014 2017
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: 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: rs587777147
rs587777147
TBC1D24
1.000 16 2496356 missense variant G/T snv 4.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.800 1.000 1 2014 2014
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: 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 0 2013 2016
dbSNP: rs397514714
rs397514714
TBC1D24
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
TBC1D24
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: rs878853232
rs878853232
TBC1D24
1.000 16 2496342 missense variant G/A;T snv 8.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 0
dbSNP: rs747538224
rs747538224
TBC1D24
0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-05
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		0.700 1.000 2 2016 2017
dbSNP: rs747538224
rs747538224
TBC1D24
0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-05
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 2 2016 2017
dbSNP: rs747538224
rs747538224
TBC1D24
0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-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 2016 2017
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: 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: 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: 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