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: 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: rs797044549
rs797044549
TBC1D24
1.000 0.280 16 2500424 frameshift variant -/A delins
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 0
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: 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: 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: 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: 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: 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: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		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: rs797044547
rs797044547
TBC1D24
1.000 0.280 16 2496461 missense variant T/C snv
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		0.700 0
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: rs765965968
rs765965968
TBC1D24
0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C1279412
Disease: periodic paralysis (finding)
periodic paralysis (finding) 		0.700 0
dbSNP: rs765965968
rs765965968
TBC1D24
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
TBC1D24
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
dbSNP: rs765965968
rs765965968
TBC1D24
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 		0.700 0
dbSNP: rs761918906
rs761918906
TBC1D24
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 		0.700 0
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2014 2014