DFNA65
MCID: DFN278
MIFTS: 33

Deafness, Autosomal Dominant 65 (DFNA65)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Autosomal Dominant 65

MalaCards integrated aliases for Deafness, Autosomal Dominant 65:

Name: Deafness, Autosomal Dominant 65 56 29 6 71
Dfna65 56 12 73
Autosomal Dominant Nonsyndromic Deafness 65 12 15
Deafness, Autosomal Dominant, Type 65 39
Deafness, Autosomal Dominant, 65 73
Autosomal Dominant Deafness 65 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
two unrelated families have been reported (last curated october 2014)
onset in late twenties


HPO:

31
deafness, autosomal dominant 65:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



External Ids:

Disease Ontology 12 DOID:0110586
OMIM 56 616044
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 263681008
UMLS 71 C3892048

Summaries for Deafness, Autosomal Dominant 65

UniProtKB/Swiss-Prot : 73 Deafness, autosomal dominant, 65: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal.

MalaCards based summary : Deafness, Autosomal Dominant 65, also known as dfna65, is related to epileptic encephalopathy, early infantile, 1 and myoclonic epilepsy, familial infantile. An important gene associated with Deafness, Autosomal Dominant 65 is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include brain, and related phenotype is progressive hearing impairment.

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that has material basis in mutation in the TBC1D24 gene on chromosome 16p13.

OMIM : 56 Autosomal dominant deafness-65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal (Zhang et al., 2014). (616044)

Related Diseases for Deafness, Autosomal Dominant 65

Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2 Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3 Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5 Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6 Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5 Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8 Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12 Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17 Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27 Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24 Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44 Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49 Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35 Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53 Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55 Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62 Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67 Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24 Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59 Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64 Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96 Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86 Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93 Deafness, Autosomal Recessive 70
Deafness, Autosomal Recessive 84b Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56 Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65 Deafness, Autosomal Dominant 67
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107 Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107 Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71 Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73 Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 65 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 36, show less)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 10.2 TBC1D24 CCNF
2 myoclonic epilepsy, familial infantile 10.2 TBC1D24 CCNF
3 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 9.8 USP6 TBC1D24 CDC16
4 epileptic encephalopathy, early infantile, 16 9.8 USP6 TBC1D24 CDC16
5 martsolf syndrome 9.8 USP6 TBC1D24 CDC16
6 usher syndrome, type ih 9.7 WHRN PCDH15
7 autosomal recessive nonsyndromic deafness 9.7 WHRN PCDH15
8 autosomal recessive nonsyndromic deafness 36 9.7 WHRN PCDH15
9 usher syndrome, type ij 9.7 WHRN PCDH15
10 usher syndrome, type iiib 9.7 WHRN PCDH15
11 deafness, autosomal recessive 48 9.7 WHRN PCDH15
12 deafness, autosomal recessive 30 9.7 WHRN PCDH15
13 usher syndrome, type iid 9.7 WHRN PCDH15
14 usher syndrome, type ic 9.7 WHRN PCDH15
15 deafness, autosomal recessive 2 9.7 WHRN PCDH15
16 deafness, autosomal recessive 23 9.7 WHRN PCDH15
17 deafness, autosomal dominant 11 9.7 WHRN PCDH15
18 usher syndrome, type ig 9.7 WHRN PCDH15
19 usher syndrome, type if 9.7 WHRN PCDH15
20 usher syndrome, type iia 9.7 WHRN PCDH15
21 usher syndrome, type iic 9.6 WHRN PCDH15
22 usher syndrome, type id 9.6 WHRN PCDH15
23 digenic disease 9.6 WHRN PCDH15
24 deafness, autosomal recessive 12 9.6 WHRN PCDH15
25 auditory system disease 9.5 WHRN PCDH15
26 usher syndrome type 2 9.5 WHRN PCDH15
27 deafness, autosomal recessive 9.5 WHRN TBC1D24 PCDH15
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 WHRN TBC1D24 PCDH15
29 autosomal dominant nonsyndromic deafness 9.5 WHRN TBC1D24 PCDH15
30 usher syndrome, type iiia 9.5 WHRN PCDH15
31 deafness, autosomal recessive 18a 9.4 TRABD TBC1D24 PCDH15
32 rare genetic deafness 9.4 WHRN PCDH15
33 sensorineural hearing loss 9.3 WHRN TBC1D24 PCDH15
34 eye degenerative disease 9.2 WHRN PCDH15
35 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 9.1 USP6 TBC1D24 PCDH15 CDC16
36 deafness, autosomal recessive 86 8.5 WHRN USP6 TBC1D24 PCDH15 CDC16 CCNF

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 65:



Diseases related to Deafness, Autosomal Dominant 65

Symptoms & Phenotypes for Deafness, Autosomal Dominant 65

Human phenotypes related to Deafness, Autosomal Dominant 65:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 31 HP:0001730

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing loss, progressive, (high frequency loss at first progressing to loss of all frequencies)
absent or abnormal otoacoustic emissions

Clinical features from OMIM:

616044

Drugs & Therapeutics for Deafness, Autosomal Dominant 65

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 65

Genetic Tests for Deafness, Autosomal Dominant 65

Genetic tests related to Deafness, Autosomal Dominant 65:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 65 29 TBC1D24

Anatomical Context for Deafness, Autosomal Dominant 65

MalaCards organs/tissues related to Deafness, Autosomal Dominant 65:

40
Brain

Publications for Deafness, Autosomal Dominant 65

Articles related to Deafness, Autosomal Dominant 65:

(showing 5, show less)
# Title Authors PMID Year
1
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 56 6
24729539 2014
2
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 6 56
24729547 2014
3
TBC1D24-Related Disorders 61 6
25719194 2015
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 61
26371875 2015

Variations for Deafness, Autosomal Dominant 65

ClinVar genetic disease variations for Deafness, Autosomal Dominant 65:

6 (showing 176, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NC_000016.10:g.(?_2496129)_(2500978_?)deldeletion Pathogenic 474299 16:2546130-2550979 16:2496129-2500978
2 TBC1D24 NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)SNV Pathogenic 587507 rs1567411469 16:2546495-2546495 16:2496494-2496494
3 TBC1D24 NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)deletion Pathogenic 541316 rs1555501140 16:2546320-2546320 16:2496319-2496319
4 TBC1D24 NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)SNV Pathogenic 852959 16:2549368-2549368 16:2499367-2499367
5 TBC1D24 NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)SNV Pathogenic 569501 rs1567413218 16:2548386-2548386 16:2498385-2498385
6 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs)deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
7 TBC1D24 NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)SNV Pathogenic 133246 rs483352866 16:2546682-2546682 16:2496681-2496681
8 TBC1D24 NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)SNV Pathogenic 391687 rs1057524191 16:2546270-2546270 16:2496269-2496269
9 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)SNV Pathogenic/Likely pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
10 TBC1D24 NM_001199107.2(TBC1D24):c.983+2T>CSNV Likely pathogenic 658011 16:2547730-2547730 16:2497729-2497729
11 TBC1D24 NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)SNV Likely pathogenic 425556 rs1555501320 16:2547068-2547068 16:2497067-2497067
12 TBC1D24 NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)SNV Likely pathogenic 419296 rs564477999 16:2550465-2550465 16:2500464-2500464
13 TBC1D24 NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)SNV Likely pathogenic 391688 rs1057524192 16:2546470-2546470 16:2496469-2496469
14 TBC1D24 NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)SNV Conflicting interpretations of pathogenicity 284895 rs61731477 16:2549411-2549411 16:2499410-2499410
15 TBC1D24 NM_001199107.2(TBC1D24):c.1525+6C>TSNV Conflicting interpretations of pathogenicity 287520 rs758013935 16:2550497-2550497 16:2500496-2500496
16 TBC1D24 NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)SNV Conflicting interpretations of pathogenicity 318616 rs377697825 16:2548293-2548293 16:2498292-2498292
17 TBC1D24 NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)SNV Conflicting interpretations of pathogenicity 318619 rs370869383 16:2550391-2550391 16:2500390-2500390
18 TBC1D24 NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=)SNV Conflicting interpretations of pathogenicity 381257 rs369172908 16:2546641-2546641 16:2496640-2496640
19 TBC1D24 NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)SNV Conflicting interpretations of pathogenicity 378709 rs201649140 16:2550921-2550921 16:2500920-2500920
20 TBC1D24 NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)SNV Conflicting interpretations of pathogenicity 378708 rs781723084 16:2550899-2550899 16:2500898-2500898
21 TBC1D24 NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=)SNV Conflicting interpretations of pathogenicity 379484 rs553215090 16:2550920-2550920 16:2500919-2500919
22 TBC1D24 NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1])short repeat Conflicting interpretations of pathogenicity 418692 rs761918906 16:2546378-2546389 16:2496377-2496388
23 TBC1D24 NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)SNV Conflicting interpretations of pathogenicity 429630 rs748302886 16:2546828-2546828 16:2496827-2496827
24 TBC1D24 NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)SNV Conflicting interpretations of pathogenicity 436947 rs545689324 16:2546958-2546958 16:2496957-2496957
25 TBC1D24 NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)SNV Conflicting interpretations of pathogenicity 659552 16:2546908-2546908 16:2496907-2496907
26 CCNF , TBC1D24 NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)SNV Conflicting interpretations of pathogenicity 130540 rs200324356 16:2546790-2546790 16:2496789-2496789
27 TBC1D24 NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)SNV Conflicting interpretations of pathogenicity 139396 rs72768728 16:2547034-2547034 16:2497033-2497033
28 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)SNV Conflicting interpretations of pathogenicity 183154 rs747821285 16:2546477-2546477 16:2496476-2496476
29 TBC1D24 NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)SNV Conflicting interpretations of pathogenicity 207518 rs200226466 16:2546328-2546328 16:2496327-2496327
30 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)SNV Conflicting interpretations of pathogenicity 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
31 TBC1D24 NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)SNV Conflicting interpretations of pathogenicity 207484 rs200926225 16:2546642-2546642 16:2496641-2496641
32 TBC1D24 NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)SNV Conflicting interpretations of pathogenicity 207503 rs756181906 16:2546829-2546829 16:2496828-2496828
33 TBC1D24 NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)SNV Conflicting interpretations of pathogenicity 207487 rs188739853 16:2546851-2546851 16:2496850-2496850
34 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)SNV Conflicting interpretations of pathogenicity 207505 rs747538224 16:2546994-2546994 16:2496993-2496993
35 TBC1D24 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)SNV Conflicting interpretations of pathogenicity 195364 rs202162520 16:2546318-2546318 16:2496317-2496317
36 TBC1D24 NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)SNV Conflicting interpretations of pathogenicity 197189 rs749163517 16:2548380-2548380 16:2498379-2498379
37 TBC1D24 NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)SNV Conflicting interpretations of pathogenicity 207488 rs766745103 16:2547100-2547100 16:2497099-2497099
38 TBC1D24 NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)SNV Conflicting interpretations of pathogenicity 208413 rs141399869 16:2550293-2550293 16:2500292-2500292
39 TBC1D24 NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)SNV Conflicting interpretations of pathogenicity 212371 rs370244846 16:2548281-2548281 16:2498280-2498280
40 TBC1D24 NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)SNV Conflicting interpretations of pathogenicity 227985 rs575173753 16:2546239-2546239 16:2496238-2496238
41 TBC1D24 NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)SNV Conflicting interpretations of pathogenicity 207490 rs370427146 16:2550439-2550439 16:2500438-2500438
42 TBC1D24 NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=)SNV Conflicting interpretations of pathogenicity 227978 rs779963634 16:2550433-2550433 16:2500432-2500432
43 TBC1D24 NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)SNV Conflicting interpretations of pathogenicity 227980 rs78644690 16:2550849-2550849 16:2500848-2500848
44 TBC1D24 NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr)SNV Uncertain significance 207514 rs367710709 16:2550456-2550456 16:2500455-2500455
45 TBC1D24 NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)SNV Uncertain significance 207511 rs188124777 16:2548283-2548283 16:2498282-2498282
46 TBC1D24 NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)SNV Uncertain significance 207517 rs373914077 16:2546327-2546327 16:2496326-2496326
47 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
48 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
49 TBC1D24 NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu)SNV Uncertain significance 207494 16:2546393-2546393 16:2496392-2496392
50 TBC1D24 NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met)SNV Uncertain significance 207495 rs368575199 16:2546489-2546489 16:2496488-2496488
51 TBC1D24 NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys)SNV Uncertain significance 207496 rs372531999 16:2546492-2546492 16:2496491-2496491
52 TBC1D24 NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His)SNV Uncertain significance 207497 rs201174513 16:2546493-2546493 16:2496492-2496492
53 TBC1D24 NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)SNV Uncertain significance 130541 rs574768683 16:2548270-2548270 16:2498269-2498269
54 TBC1D24 NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His)SNV Uncertain significance 449816 rs760666914 16:2547039-2547039 16:2497038-2497038
55 TBC1D24 NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His)SNV Uncertain significance 570270 rs556865791 16:2550288-2550288 16:2500287-2500287
56 TBC1D24 NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln)SNV Uncertain significance 580017 rs141399869 16:2550293-2550293 16:2500292-2500292
57 TBC1D24 NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys)SNV Uncertain significance 835949 16:2550422-2550422 16:2500421-2500421
58 TBC1D24 NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=)SNV Uncertain significance 840909 16:2550839-2550839 16:2500838-2500838
59 TBC1D24 NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)SNV Uncertain significance 49 rs267607105 16:2550823-2550823 16:2500822-2500822
60 TBC1D24 NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)SNV Uncertain significance 800780 16:2546474-2546474 16:2496473-2496473
61 TBC1D24 NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)SNV Uncertain significance 856852 16:2546268-2546268 16:2496267-2496267
62 TBC1D24 NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)SNV Uncertain significance 858106 16:2546293-2546293 16:2496292-2496292
63 TBC1D24 NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser)SNV Uncertain significance 839288 16:2546336-2546336 16:2496335-2496335
64 TBC1D24 NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met)SNV Uncertain significance 841498 16:2546346-2546346 16:2496345-2496345
65 TBC1D24 NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg)SNV Uncertain significance 836240 16:2546352-2546352 16:2496351-2496351
66 TBC1D24 NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr)SNV Uncertain significance 848574 16:2546360-2546360 16:2496359-2496359
67 TBC1D24 NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr)SNV Uncertain significance 851338 16:2546402-2546402 16:2496401-2496401
68 TBC1D24 NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser)SNV Uncertain significance 837530 16:2546517-2546517 16:2496516-2496516
69 TBC1D24 NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)SNV Uncertain significance 844622 16:2546543-2546543 16:2496542-2496542
70 TBC1D24 NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr)SNV Uncertain significance 858483 16:2546546-2546546 16:2496545-2496545
71 TBC1D24 NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)SNV Uncertain significance 852198 16:2546558-2546558 16:2496557-2496557
72 TBC1D24 NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu)SNV Uncertain significance 861926 16:2546558-2546558 16:2496557-2496557
73 TBC1D24 NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp)SNV Uncertain significance 854288 16:2546673-2546673 16:2496672-2496672
74 TBC1D24 NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys)SNV Uncertain significance 837432 16:2546804-2546804 16:2496803-2496803
75 TBC1D24 NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro)SNV Uncertain significance 858035 16:2546808-2546808 16:2496807-2496807
76 TBC1D24 NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val)SNV Uncertain significance 845179 16:2547005-2547005 16:2497004-2497004
77 TBC1D24 NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp)SNV Uncertain significance 854181 16:2548280-2548280 16:2498279-2498279
78 TBC1D24 NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln)SNV Uncertain significance 853865 16:2548330-2548330 16:2498329-2498329
79 TBC1D24 NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys)SNV Uncertain significance 660860 16:2548276-2548276 16:2498275-2498275
80 TBC1D24 NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys)SNV Uncertain significance 640027 16:2549900-2549900 16:2499899-2499899
81 TBC1D24 NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly)SNV Uncertain significance 654401 16:2550287-2550287 16:2500286-2500286
82 TBC1D24 NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys)SNV Uncertain significance 649192 16:2550287-2550287 16:2500286-2500286
83 TBC1D24 NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr)SNV Uncertain significance 662069 16:2550392-2550392 16:2500391-2500391
84 TBC1D24 NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln)SNV Uncertain significance 663121 16:2550850-2550850 16:2500849-2500849
85 TBC1D24 NC_000016.9:g.(?_2546130)_(2550979_?)dupduplication Uncertain significance 655213 16:2546130-2550979 16:2496129-2500978
86 TBC1D24 NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg)SNV Uncertain significance 541319 rs758299397 16:2546736-2546736 16:2496735-2496735
87 TBC1D24 NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met)SNV Uncertain significance 541317 rs762576413 16:2546956-2546956 16:2496955-2496955
88 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)SNV Uncertain significance 626176 rs370477379 16:2546883-2546883 16:2496882-2496882
89 TBC1D24 NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)SNV Uncertain significance 646598 16:2546177-2546177 16:2496176-2496176
90 TBC1D24 NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu)SNV Uncertain significance 649293 16:2546292-2546292 16:2496291-2496291
91 TBC1D24 NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg)SNV Uncertain significance 639966 16:2546303-2546303 16:2496302-2496302
92 TBC1D24 NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)SNV Uncertain significance 655487 16:2546366-2546366 16:2496365-2496365
93 TBC1D24 NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn)SNV Uncertain significance 652727 16:2546375-2546375 16:2496374-2496374
94 TBC1D24 NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys)SNV Uncertain significance 661860 16:2546480-2546480 16:2496479-2496479
95 TBC1D24 NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys)SNV Uncertain significance 658235 16:2546580-2546580 16:2496579-2496579
96 TBC1D24 NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala)SNV Uncertain significance 655303 16:2546607-2546607 16:2496606-2496606
97 TBC1D24 NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly)SNV Uncertain significance 664150 16:2546781-2546781 16:2496780-2496780
98 TBC1D24 NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)SNV Uncertain significance 665574 16:2546874-2546874 16:2496873-2496873
99 TBC1D24 NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)SNV Uncertain significance 583333 rs761934676 16:2547069-2547069 16:2497068-2497068
100 TBC1D24 NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=)SNV Uncertain significance 576356 rs1333624924 16:2550490-2550490 16:2500489-2500489
101 TBC1D24 NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu)SNV Uncertain significance 581471 rs1567410958 16:2546217-2546217 16:2496216-2496216
102 TBC1D24 NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu)SNV Uncertain significance 568347 rs1567411503 16:2546522-2546522 16:2496521-2496521
103 TBC1D24 NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)SNV Uncertain significance 580424 rs61731478 16:2546755-2546755 16:2496754-2496754
104 TBC1D24 NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=)SNV Uncertain significance 573760 rs373088306 16:2546347-2546347 16:2496346-2496346
105 TBC1D24 NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile)SNV Uncertain significance 572484 rs1355375251 16:2546771-2546771 16:2496770-2496770
106 TBC1D24 NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu)SNV Uncertain significance 574391 rs375873110 16:2546880-2546880 16:2496879-2496879
107 TBC1D24 NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr)SNV Uncertain significance 576626 rs368150932 16:2548327-2548327 16:2498326-2498326
108 TBC1D24 NM_001199107.2(TBC1D24):c.1207-6C>GSNV Uncertain significance 431896 rs749626631 16:2549830-2549830 16:2499829-2499829
109 TBC1D24 NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)SNV Uncertain significance 431833 rs200641000 16:2550333-2550333 16:2500332-2500332
110 TBC1D24 NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp)SNV Uncertain significance 409616 rs1060502501 16:2550869-2550869 16:2500868-2500868
111 TBC1D24 NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=)SNV Uncertain significance 409618 rs778663250 16:2546554-2546554 16:2496553-2496553
112 TBC1D24 NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu)SNV Uncertain significance 409617 rs1060502502 16:2550906-2550906 16:2500905-2500905
113 TBC1D24 NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln)SNV Uncertain significance 425089 rs200641000 16:2550333-2550333 16:2500332-2500332
114 TBC1D24 NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr)SNV Uncertain significance 425090 rs377448015 16:2550377-2550377 16:2500376-2500376
115 TBC1D24 NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)SNV Uncertain significance 425091 rs749994791 16:2550491-2550491 16:2500490-2500490
116 TBC1D24 NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly)SNV Uncertain significance 474307 rs372337277 16:2546474-2546474 16:2496473-2496473
117 TBC1D24 NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val)SNV Uncertain significance 474308 rs1555501245 16:2546705-2546705 16:2496704-2496704
118 TBC1D24 NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met)SNV Uncertain significance 474311 rs762660491 16:2546876-2546876 16:2496875-2496875
119 TBC1D24 NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His)SNV Uncertain significance 474305 rs752301570 16:2550856-2550856 16:2500855-2500855
120 TBC1D24 NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile)SNV Uncertain significance 474313 rs752610561 16:2546966-2546966 16:2496965-2496965
121 TBC1D24 NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)SNV Uncertain significance 474302 rs773916549 16:2546265-2546265 16:2496264-2496264
122 TBC1D24 NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys)SNV Uncertain significance 474309 rs760121083 16:2546789-2546789 16:2496788-2496788
123 TBC1D24 NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys)SNV Uncertain significance 474312 rs375860324 16:2546957-2546957 16:2496956-2496956
124 TBC1D24 NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr)SNV Uncertain significance 474314 rs754019727 16:2546978-2546978 16:2496977-2496977
125 TBC1D24 NM_001199107.2(TBC1D24):c.1142+6A>TSNV Uncertain significance 474301 rs778930581 16:2548403-2548403 16:2498402-2498402
126 TBC1D24 NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met)SNV Uncertain significance 493168 rs371031447 16:2548294-2548294 16:2498293-2498293
127 TBC1D24 NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser)SNV Uncertain significance 506170 rs772054145 16:2546634-2546634 16:2496633-2496633
128 TBC1D24 NM_001199107.2(TBC1D24):c.414G>A (p.Val138=)SNV Uncertain significance 541318 rs1015174831 16:2546563-2546563 16:2496562-2496562
129 TBC1D24 NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr)SNV Uncertain significance 541315 rs1475264921 16:2548304-2548304 16:2498303-2498303
130 TBC1D24 NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)SNV Uncertain significance 229287 rs267607103 16:2546588-2546588 16:2496587-2496587
131 TBC1D24 NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr)SNV Uncertain significance 386478 rs774586263 16:2550419-2550419 16:2500418-2500418
132 TBC1D24 NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)SNV Uncertain significance 375708 rs1057519630 16:2546553-2546553 16:2496552-2496552
133 TBC1D24 NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)SNV Uncertain significance 375707 rs1057519629 16:2548333-2548333 16:2498332-2498332
134 TBC1D24 NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met)SNV Uncertain significance 318613 rs776539630 16:2546381-2546381 16:2496380-2496380
135 TBC1D24 NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met)SNV Uncertain significance 318615 rs772768393 16:2546942-2546942 16:2496941-2496941
136 TBC1D24 NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)SNV Uncertain significance 380328 rs754727069 16:2548277-2548277 16:2498276-2498276
137 TBC1D24 NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=)SNV Likely benign 378703 rs182825122 16:2546695-2546695 16:2496694-2496694
138 TBC1D24 NM_001199107.2(TBC1D24):c.702G>C (p.Val234=)SNV Likely benign 381355 rs188739853 16:2546851-2546851 16:2496850-2496850
139 TBC1D24 NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=)SNV Likely benign 541321 rs1178639246 16:2546251-2546251 16:2496250-2496250
140 TBC1D24 NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=)SNV Likely benign 541322 rs763534843 16:2546668-2546668 16:2496667-2496667
141 TBC1D24 NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=)SNV Likely benign 517511 rs767766165 16:2546446-2546446 16:2496445-2496445
142 TBC1D24 NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=)SNV Likely benign 517521 rs769290045 16:2546941-2546941 16:2496940-2496940
143 TBC1D24 NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=)SNV Likely benign 474300 rs1555501404 16:2548365-2548365 16:2498364-2498364
144 TBC1D24 NM_001199107.2(TBC1D24):c.1525+7G>ASNV Likely benign 474303 rs1041091510 16:2550498-2550498 16:2500497-2500497
145 TBC1D24 NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=)SNV Likely benign 474310 rs772786813 16:2546875-2546875 16:2496874-2496874
146 TBC1D24 NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=)SNV Likely benign 415713 rs373872223 16:2546359-2546359 16:2496358-2496358
147 TBC1D24 NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=)SNV Likely benign 448644 rs755794991 16:2546596-2546596 16:2496595-2496595
148 TBC1D24 NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=)SNV Likely benign 474306 rs749237671 16:2546482-2546482 16:2496481-2496481
149 TBC1D24 NM_001199107.2(TBC1D24):c.965+10C>TSNV Likely benign 541320 rs756687194 16:2547124-2547124 16:2497123-2497123
150 TBC1D24 NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=)SNV Likely benign 696951 16:2546656-2546656 16:2496655-2496655
151 TBC1D24 NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=)SNV Likely benign 700557 16:2546683-2546683 16:2496682-2496682
152 TBC1D24 NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=)SNV Likely benign 701932 16:2547013-2547013 16:2497012-2497012
153 TBC1D24 NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=)SNV Likely benign 699204 16:2550316-2550316 16:2500315-2500315
154 TBC1D24 NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=)SNV Likely benign 699068 16:2550376-2550376 16:2500375-2500375
155 TBC1D24 NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=)SNV Likely benign 760076 16:2546527-2546527 16:2496526-2496526
156 TBC1D24 NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=)SNV Likely benign 238626 rs199865687 16:2550358-2550358 16:2500357-2500357
157 TBC1D24 NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=)SNV Likely benign 227981 rs778212970 16:2546362-2546362 16:2496361-2496361
158 TBC1D24 NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=)SNV Likely benign 227982 rs754551693 16:2546476-2546476 16:2496475-2496475
159 TBC1D24 NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=)SNV Benign/Likely benign 207491 rs368735897 16:2550469-2550469 16:2500468-2500468
160 TBC1D24 NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=)SNV Benign/Likely benign 207485 rs776459372 16:2546779-2546779 16:2496778-2496778
161 TBC1D24 NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=)SNV Benign/Likely benign 207486 rs148670169 16:2546812-2546812 16:2496811-2496811
162 TBC1D24 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)SNV Benign/Likely benign 195134 rs77585883 16:2546171-2546171 16:2496170-2496170
163 TBC1D24 NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)SNV Benign/Likely benign 195135 rs201060500 16:2546934-2546934 16:2496933-2496933
164 TBC1D24 NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)SNV Benign/Likely benign 139397 rs184389316 16:2548257-2548257 16:2498256-2498256
165 TBC1D24 NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=)SNV Benign/Likely benign 139398 rs75961715 16:2548329-2548329 16:2498328-2498328
166 TBC1D24 NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)SNV Benign/Likely benign 139393 rs201374999 16:2546353-2546353 16:2496352-2496352
167 TBC1D24 NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)SNV Benign/Likely benign 139394 rs149371169 16:2546590-2546590 16:2496589-2496589
168 TBC1D24 NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)SNV Benign/Likely benign 130537 rs201059992 16:2550466-2550466 16:2500465-2500465
169 TBC1D24 NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)SNV Benign/Likely benign 130535 rs184639841 16:2550292-2550292 16:2500291-2500291
170 TBC1D24 NM_001199107.2(TBC1D24):c.983+7C>TSNV Benign/Likely benign 378704 rs778459711 16:2547735-2547735 16:2497734-2497734
171 TBC1D24 NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)SNV Benign/Likely benign 378706 rs202216463 16:2550393-2550393 16:2500392-2500392
172 TBC1D24 NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)SNV Benign 130536 rs12373107 16:2550406-2550406 16:2500405-2500405
173 TBC1D24 NM_001199107.2(TBC1D24):c.1143-6C>TSNV Benign 130534 rs73490287 16:2549352-2549352 16:2499351-2499351
174 TBC1D24 NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)SNV Benign 130538 rs189089167 16:2550475-2550475 16:2500474-2500474
175 TBC1D24 NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=)SNV Benign 130539 rs13339237 16:2546356-2546356 16:2496355-2496355
176 TBC1D24 NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=)SNV Benign 139395 rs587781187 16:2546806-2546806 16:2496805-2496805

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 65:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 TBC1D24 p.Ser178Leu VAR_072107 rs483352866

Expression for Deafness, Autosomal Dominant 65

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 65.

Pathways for Deafness, Autosomal Dominant 65

GO Terms for Deafness, Autosomal Dominant 65

Cellular components related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.62 WHRN PCDH15

Biological processes related to Deafness, Autosomal Dominant 65 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 inner ear receptor cell stereocilium organization GO:0060122 9.26 WHRN PCDH15
2 auditory receptor cell stereocilium organization GO:0060088 9.16 WHRN PCDH15
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 WHRN PCDH15
4 sensory perception of light stimulus GO:0050953 8.62 WHRN PCDH15

Sources for Deafness, Autosomal Dominant 65

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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