TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607105
rs267607105 		1.000 0.040 16 2500822 missense variant C/T snv 8.3E-06 2.1E-05
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.710 1.000 2 2010 2010
dbSNP: rs564477999
rs564477999 		1.000 0.080 16 2500464 missense variant C/T snv 2.7E-05 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 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs797044549
rs797044549 		1.000 0.280 16 2500424 frameshift variant -/A delins
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		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 		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 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		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: rs1567413218
rs1567413218 		0.925 0.040 16 2498385 stop gained C/G snv
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		Nervous System Diseases 0.700 0
dbSNP: rs1567413218
rs1567413218 		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: rs1567413218
rs1567413218 		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: rs770899419
rs770899419 		1.000 0.280 16 2498384 missense variant A/G snv 4.3E-06
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2014 2014
dbSNP: rs765965968
rs765965968 		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 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs765965968
rs765965968 		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 		Nervous System Diseases 0.700 0
dbSNP: rs765965968
rs765965968 		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 		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 		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) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519629
rs1057519629 		16 2498332 missense variant C/G;T snv 2.1E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 2 2014 2014