Deafness, Autosomal Recessive 8 (DFNB8)

MalaCards integrated aliases for Deafness, Autosomal Recessive 8:

Neurosensory Nonsyndromic Recessive Deafness 8 56 12 73 Dfnb10 56 12 73 Dfnb8 56 12 73 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 56 71 Autosomal Recessive Nonsyndromic Deafness 8 12 15 Deafness, Autosomal Recessive 8/10 56 13 Deafness, Autosomal Recessive 10 56 71 Nsrd8 56 73 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8; Dfnb8 56 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 73 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 73 Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 12

Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 73 Neurosensory Nonsyndromic Recessive Deafness 8; Nsrd8 56 Deafness Neurosensory Autosomal Recessive 8 73 Deafness, Autosomal Recessive 10; Dfnb10 56 Deafness, Autosomal Recessive, Type 8/10 39 Deafness Autosomal Recessive 8/10 73 Deafness, Autosomal Recessive, 8 73 Autosomal Recessive Deafness 10 12 Deafness Autosomal Recessive 10 73 Autosomal Recessive Deafness 8 12 Nrsd8 12

Characteristics:

Classifications:

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 Recessive 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)

#	Related Disease	Score	Top Affiliating Genes
1	nonsyndromic deafness	30.8	MYO15A GJB2
2	glycerol kinase deficiency	30.1	SLC37A3 SLC37A1
3	branchiootic syndrome 1	28.9	TMC1 PJVK OTOF LOXHD1 GJB2
4	autosomal recessive nonsyndromic deafness	28.7	TMPRSS3 TMC1 PJVK OTOF MYO15A GJB2
5	petroclival meningioma	10.4	TMPRSS4 TMPRSS3
6	deafness, autosomal dominant 7	10.3	TMPRSS4 TMPRSS3
7	skull base cancer	10.3	TMPRSS3 SERPINA3
8	skull base meningioma	10.3	TMPRSS3 SERPINA3
9	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
10	deafness, autosomal recessive 3	10.2	MYO15A GJB2
11	usher syndrome, type ic	10.1	TMC1 GJB2
12	y-linked deafness	10.1	TMC1 OTOF
13	non-syndromic genetic deafness	10.1	MYO15A GJB2
14	deafness, autosomal recessive 29	10.1	TSPEAR GJB2
15	deafness, autosomal recessive 98	10.1	TSPEAR TMPRSS4 TMPRSS3
16	dfnb1	10.1	OTOF GJB2
17	deafness, autosomal recessive 1b	10.1	MYO15A GJB2
18	deafness, autosomal recessive 23	10.0	TMC1 MYO15A
19	deafness, autosomal dominant 67	10.0	OTOF GJB2
20	deafness, autosomal recessive 27	10.0	TMC1 PJVK
21	deafness, autosomal dominant 1	10.0	MYO15A GJB2
22	deafness, autosomal dominant 11	10.0	MYO15A GJB2
23	deafness, autosomal recessive 28	10.0	OTOF MYO15A
24	y-linked monogenic disease	10.0	TMPRSS3 TMC1 OTOF
25	x-linked nonsyndromic deafness	9.9	OTOF GJB2
26	auditory neuropathy spectrum disorder	9.9	PJVK OTOF
27	middle ear disease	9.9	SERPINA3 GJB2
28	glycogen storage disease ia	9.9	SLC37A3 SLC37A1
29	deafness, autosomal recessive 79	9.9	TMC1 MYO15A GJB2
30	deafness, autosomal recessive 13	9.9	TMPRSS3 TMC1 PJVK
31	usher syndrome, type id	9.9	TMC1 MYO15A GJB2
32	usher syndrome, type iia	9.9	OTOF GJB2
33	deafness, autosomal recessive 59	9.9	PJVK OTOF
34	deafness, autosomal recessive 15	9.9	PJVK MYO15A
35	deafness, autosomal recessive 6	9.9	TMPRSS3 TMC1 PJVK
36	deafness, x-linked 5, with peripheral neuropathy	9.9	PJVK OTOF
37	deafness, autosomal recessive 24	9.9	PJVK MYO15A
38	deafness, autosomal recessive 25	9.8	TMPRSS3 PJVK MYO15A
39	deafness, autosomal recessive 35	9.8	TMPRSS3 PJVK MYO15A
40	deafness, autosomal recessive 85	9.8	TMPRSS3 PJVK OTOF
41	deafness, autosomal recessive 16	9.8	OTOF MYO15A GJB2
42	pendred syndrome	9.7	OTOF MYO15A GJB2
43	deafness, autosomal recessive 63	9.7	TMC1 PJVK MYO15A
44	autosomal dominant non-syndromic sensorineural deafness type dfna	9.7	TMC1 GJB2
45	deafness, autosomal recessive 39	9.7	TMPRSS3 LOXHD1 GJB2
46	deafness, autosomal recessive 21	9.7	PJVK MYO15A GJB2
47	deafness, autosomal recessive 49	9.7	PJVK MYO15A GJB2
48	auditory neuropathy, autosomal dominant, 1	9.7	PJVK OTOF GJB2
49	corneal disease	9.7	SERPINA3 LOXHD1 GJB2
50	vestibular disease	9.6	TMPRSS3 OTOF MYO15A GJB2

Genetic tests related to Deafness, Autosomal Recessive 8:

#	Genetic test	Affiliating Genes
1	Deafness, Autosomal Recessive 8 29	TMPRSS3

Articles related to Deafness, Autosomal Recessive 8:

(show all 30)

#	Title	Authors	PMID	Year
1	A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 6 56 61	Wattenhofer M...Antonarakis SE	16021470	2005
2	Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 61 56 6	Wattenhofer M...Antonarakis SE	11907649	2002
3	Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 61 56 6	Scott HS...Antonarakis SE	11137999	2001
4	Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 6 61	Masmoudi S...Guipponi M	11462234	2001
5	Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. 56 61	Veske A...Gal A	8789456	1996
6	Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. 56	Berry A...Bonne-Tamir B	10950923	2000
7	Hereditary Hearing Loss and Deafness Overview 6	Shearer AE...Smith RJH	20301607	1999
8	Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. 56	Bonne-Tamir B...Farrer LA	8651303	1996
9	Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. 61	Li X...Yuan H	31016883	2019
10	Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti. 61	Liu W...Rask-Andersen H	29460002	2018
11	Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. 61	Gao X...Dai P	28695016	2017
12	Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. 61	Gao X...Dai P	28246597	2017
13	Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61	Ullah S...Rasheed A	26305302	2015
14	A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. 61	Chung J...Choi BY	24526180	2014
15	Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 61	Lee J...Lee KY	23958653	2013
16	Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61	Delmaghani S...Petit C	22678063	2012
17	Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. 61	Charif M...Barakat A	22382023	2012
18	Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 61	Weegerink NJ...Kunst HP	21786053	2011
19	Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. 61	Fasquelle L...Delprat B	21454591	2011
20	TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 61	Guipponi M...Scott HS	17981648	2008
21	Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 61	Elbracht M...Zerres K	17551081	2007
22	Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 61	Ahmed ZM...Wilcox ER	15447792	2004
23	A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61	Ansar M...Leal SM	12529709	2003
24	The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 61	Guipponi M...Rossier BC	12393794	2002
25	Hereditary deafness and phenotyping in humans. 61	Bitner-Glindzicz M	12324385	2002
26	Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. 61	Ben-Yosef T...Morell RJ	11424922	2001
27	Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. 61	Scott HS...Gal A	10868228	2000
28	Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. 61	Scott HS...Antonarakis SE	9465297	1998
29	Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. 61	Krohn K...Peterson P	9325172	1997
30	Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. 61	Scott HS...Antonarakis SE	9150728	1997

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TMPRSS3	Transmembrane Serine Protease 3	Protein Coding	1329.12	Molecular basis known 56 Pathogenic 6 Causative variation 73 Genetic Tests 29 DISEASES inferred 15 GeneCards inferred via : Disorders Variants (show sections)	16021470 11907649 11137999 (more) 11462234 20301607
2	TMPRSS4	Transmembrane Serine Protease 4	Protein Coding	8.93	DISEASES inferred 15
3	SERPINA3	Serpin Family A Member 3	Protein Coding	7.76	DISEASES inferred 15 15
4	SLC37A1	Solute Carrier Family 37 Member 1	Protein Coding	7.57	DISEASES inferred 15
5	CLRN2	Clarin 2	Protein Coding	6.96	DISEASES inferred 15
6	TMC1	Transmembrane Channel Like 1	Protein Coding	6.94	DISEASES inferred 15
7	GJB2	Gap Junction Protein Beta 2	Protein Coding	6.91	DISEASES inferred 15
8	TSPEAR	Thrombospondin Type Laminin G Domain And EAR Repeats	Protein Coding	6.91	DISEASES inferred 15
9	MYO15A	Myosin XVA	Protein Coding	6.85	DISEASES inferred 15
10	OTOF	Otoferlin	Protein Coding	6.84	DISEASES inferred 15
11	PJVK	Pejvakin	Protein Coding	6.8	DISEASES inferred 15
12	LOXHD1	Lipoxygenase Homology Domains 1	Protein Coding	6.67	DISEASES inferred 15
13	SLC37A3	Solute Carrier Family 37 Member 3	Protein Coding	6.59	DISEASES inferred 15

ClinVar genetic disease variations for Deafness, Autosomal Recessive 8:

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#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TMPRSS3	NM_001256317.3(TMPRSS3):c.1192-1G>C	SNV	Pathogenic	828127		21:43795978-43795978	21:42375869-42375869
2	TMPRSS3	NM_024022.3(TMPRSS3):c.582T>A (p.Cys194Ter)	SNV	Pathogenic	402283	rs1060499811	21:43804113-43804113	21:42384004-42384004
3	TMPRSS3	NM_024022.3(TMPRSS3):c.783-1G>T	SNV	Pathogenic	562094	rs1237955948	21:43802344-43802344	21:42382235-42382235
4	TMPRSS3	TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS	indel	Pathogenic	4942
5	TMPRSS3	TMPRSS3, IVS4AS, G-A, -6	SNV	Pathogenic	4943
6	TMPRSS3	NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys)	SNV	Pathogenic	4944	rs137852999	21:43803171-43803171	21:42383062-42383062
7	TMPRSS3	NM_024022.3(TMPRSS3):c.1211C>T (p.Pro404Leu)	SNV	Pathogenic	4945	rs28939084	21:43795961-43795961	21:42375852-42375852
8	TMPRSS3	NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu)	SNV	Pathogenic	4946	rs137853000	21:43803277-43803277	21:42383168-42383168
9	TMPRSS3	TMPRSS3, 1-BP DEL, 207C	deletion	Pathogenic	30492
10	TMPRSS3	NM_024022.3(TMPRSS3):c.308A>G (p.Asp103Gly)	SNV	Pathogenic	30493	rs387906915	21:43809052-43809052	21:42388943-42388943
11	TMPRSS3	NM_024022.3(TMPRSS3):c.1048+1G>A	SNV	Pathogenic	627482	rs1429442821	21:43800225-43800225	21:42380116-42380116
12	TMPRSS3	NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)	SNV	Pathogenic	46131	rs181949335	21:43802210-43802210	21:42382101-42382101
13	TMPRSS3	NM_024022.3(TMPRSS3):c.208del (p.His70fs)	deletion	Pathogenic/Likely pathogenic	165492	rs727503493	21:43809152-43809152	21:42389043-42389043
14	TMPRSS3	NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	SNV	Pathogenic/Likely pathogenic	46102	rs56264519	21:43795896-43795896	21:42375787-42375787
15	TMPRSS3	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	SNV	Pathogenic/Likely pathogenic	46119	rs147231991	21:43808545-43808545	21:42388436-42388436
16	TMPRSS3	NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)	SNV	Likely pathogenic	178549	rs372526764	21:43803197-43803197	21:42383088-42383088
17	TMPRSS3	NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)	SNV	Conflicting interpretations of pathogenicity	179855	rs146159479	21:43809121-43809121	21:42389012-42389012
18	TMPRSS3	NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln)	SNV	Conflicting interpretations of pathogenicity	197857	rs139484231	21:43808632-43808632	21:42388523-42388523
19	TMPRSS3	NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser)	SNV	Conflicting interpretations of pathogenicity	225495	rs185332310	21:43809148-43809148	21:42389039-42389039
20	TMPRSS3	NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=)	SNV	Conflicting interpretations of pathogenicity	46097	rs113747896	21:43796722-43796722	21:42376613-42376613
21	TMPRSS3	NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)	SNV	Conflicting interpretations of pathogenicity	46098	rs111033292	21:43796716-43796716	21:42376607-42376607
22	TMPRSS3	NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=)	SNV	Conflicting interpretations of pathogenicity	46101	rs56178910	21:43795897-43795897	21:42375788-42375788
23	TMPRSS3	NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)	SNV	Conflicting interpretations of pathogenicity	46114	rs201632198	21:43808633-43808633	21:42388524-42388524
24	TMPRSS3	NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=)	SNV	Conflicting interpretations of pathogenicity	46134	rs397517379	21:43800299-43800299	21:42380190-42380190
25	TMPRSS3	NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=)	SNV	Conflicting interpretations of pathogenicity	178547	rs186972955	21:43795837-43795837	21:42375728-42375728
26	TMPRSS3	NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=)	SNV	Conflicting interpretations of pathogenicity	178683	rs147181936	21:43802337-43802337	21:42382228-42382228
27	TMPRSS3	NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)	SNV	Conflicting interpretations of pathogenicity	177981	rs150397427	21:43805593-43805593	21:42385484-42385484
28	TMPRSS3	NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile)	SNV	Conflicting interpretations of pathogenicity	46103	rs114904237	21:43795863-43795863	21:42375754-42375754
29	TMPRSS3	NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)	SNV	Conflicting interpretations of pathogenicity	46104	rs201018751	21:43795829-43795829	21:42375720-42375720
30	TMPRSS3	NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys)	SNV	Conflicting interpretations of pathogenicity	666988		21:43795866-43795866	21:42375757-42375757
31	TMPRSS3	NM_024022.3(TMPRSS3):c.1194+10C>T	SNV	Conflicting interpretations of pathogenicity	736897		21:43796640-43796640	21:42376531-42376531
32	TMPRSS3	NM_024022.3(TMPRSS3):c.1269C>T (p.Ile423=)	SNV	Uncertain significance	595601	rs372469227	21:43795903-43795903	21:42375794-42375794
33	TMPRSS3	NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)	SNV	Uncertain significance	440339	rs143762350	21:43809080-43809080	21:42388971-42388971
34	TMPRSS3	NM_001256317.3(TMPRSS3):c.*53G>A	SNV	Uncertain significance	897375		21:43792818-43792818	21:42372709-42372709
35	TMPRSS3	NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=)	SNV	Uncertain significance	898535		21:43796764-43796764	21:42376655-42376655
36	TMPRSS3	NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met)	SNV	Uncertain significance	895546		21:43800255-43800255	21:42380146-42380146
37	TMPRSS3	NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala)	SNV	Uncertain significance	895547		21:43800270-43800270	21:42380161-42380161
38	TMPRSS3	NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met)	SNV	Uncertain significance	895548		21:43802270-43802270	21:42382161-42382161
39	TMPRSS3	NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=)	SNV	Uncertain significance	896949		21:43805640-43805640	21:42385531-42385531
40	TMPRSS3	NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=)	SNV	Uncertain significance	897438		21:43808547-43808547	21:42388438-42388438
41	TMPRSS3	NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=)	SNV	Uncertain significance	897439		21:43808586-43808586	21:42388477-42388477
42	TMPRSS3	NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=)	SNV	Uncertain significance	897440		21:43809147-43809147	21:42389038-42389038
43	TMPRSS3	NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr)	SNV	Uncertain significance	898607		21:43810080-43810080	21:42389971-42389971
44	TMPRSS3	NM_001256317.3(TMPRSS3):c.-78T>A	SNV	Uncertain significance	895619		21:43816077-43816077	21:42395968-42395968
45	TMPRSS3	NM_001256317.3(TMPRSS3):c.1344+9G>A	SNV	Uncertain significance	897376		21:43795816-43795816	21:42375707-42375707
46	TMPRSS3	NM_001256317.3(TMPRSS3):c.1344+8C>T	SNV	Uncertain significance	897377		21:43795817-43795817	21:42375708-42375708
47	TMPRSS3	NM_001256317.3(TMPRSS3):c.1048+5G>A	SNV	Uncertain significance	898536		21:43800221-43800221	21:42380112-42380112
48	TMPRSS3	NM_001256317.3(TMPRSS3):c.573-8C>T	SNV	Uncertain significance	896948		21:43804130-43804130	21:42384021-42384021
49	TMPRSS3	NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)	SNV	Uncertain significance	873474		21:43796693-43796693	21:42376584-42376584
50	TMPRSS3	NM_001256317.3(TMPRSS3):c.*805T>C	SNV	Uncertain significance	897297		21:43792066-43792066	21:42371957-42371957

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 8:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TMPRSS3	p.Trp251Cys	VAR_011678	rs137852999
2	TMPRSS3	p.Pro404Leu	VAR_011679	rs28939084
3	TMPRSS3	p.Asp103Gly	VAR_013490	rs387906915
4	TMPRSS3	p.Arg109Trp	VAR_013491	rs201632198
5	TMPRSS3	p.Cys194Phe	VAR_013494	rs133365177
6	TMPRSS3	p.Cys407Arg	VAR_013495	rs773780151
7	TMPRSS3	p.Arg216Leu	VAR_025354	rs137853000