MCID: PND002
MIFTS: 55

Pendred Syndrome

Categories: Genetic diseases, Rare diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Pendred Syndrome

MalaCards integrated aliases for Pendred Syndrome:

Name: Pendred Syndrome 57 12 76 53 25 59 75 13 55 44 15 40
Goiter-Deafness Syndrome 57 12 53 25 59 75
Deafness with Goiter 57 12 53 25 75
Pendred's Syndrome 25 29 6 73
Thyroid Dyshormonogenesis 2b 57 12 75
Tdh2b 57 12 75
Pds 57 53 75
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, and Goiter 25
Autosomal Recessive Sensorineural Hearing Impairment and Goiter 53
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 2b 57
Congenital Hypothyroidism Due to Dyshormonogenesis 2b 12
Thyroid Hormonogenesis, Genetic Defect in, 2b 57
Genetic Defect in Thyroid Hormonogenesis 2b 12
Thyroid Dyshormonogenesis 2b; Tdh2b 57

Characteristics:

Orphanet epidemiological data:

59
pendred syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Miscellaneous:
thyroid carcinoma

Inheritance:
autosomal recessive


HPO:

32
pendred syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 274600
Disease Ontology 12 DOID:0060744
ICD10 33 E07.1
Orphanet 59 ORPHA705
MESH via Orphanet 45 C536648
UMLS via Orphanet 74 C0271829
ICD10 via Orphanet 34 E07.1
MedGen 42 C0271829
UMLS 73 C0271829

Summaries for Pendred Syndrome

NIH Rare Diseases : 53 Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth. In other cases, hearing loss does not develop until later in infancy or childhood. Some people have problems with balance caused by dysfunction of the part of the inner ear that helps with balance and orientation (the vestibular system). Pendred syndrome is inherited in an autosomal recessive manner. Mutations in 3 genes are currently known to cause the condition (SLC26A4, FOXI1, and KCNJ10) and are found in about half of affected people. Other genes responsible for the condition have not yet been identified.

MalaCards based summary : Pendred Syndrome, also known as goiter-deafness syndrome, is related to familial thyroid dyshormonogenesis and goiter. An important gene associated with Pendred Syndrome is SLC26A4 (Solute Carrier Family 26 Member 4), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Thyroxine (Thyroid Hormone) Production. Affiliated tissues include thyroid and testes, and related phenotypes are hypothyroidism and intellectual disability

OMIM : 57 Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter) (Everett et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400). (274600)

UniProtKB/Swiss-Prot : 75 Pendred syndrome: An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.

Genetics Home Reference : 25 Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction.

Disease Ontology : 12 An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has material basis in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.

Wikipedia : 76 Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural... more...

Related Diseases for Pendred Syndrome

Diseases related to Pendred Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 75, show less)
# Related Disease Score Top Affiliating Genes
1 familial thyroid dyshormonogenesis 29.7 DUOX2 TG TPO
2 goiter 29.6 PAX8 SLC26A4 TG TPO
3 nonsyndromic deafness 29.5 FOXI1 GJB2 SLC26A4
4 neonatal hypothyroidism 29.3 PAX8 TG TPO
5 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 29.1 FOXI1 GJB2 KCNJ10 SLC26A2 SLC26A4 SLC26A5
6 hypothyroidism 28.2 DUOX2 PAX8 SLC26A4 TG TPO
7 congenital hypothyroidism 28.2 DUOX2 PAX8 TG TPO
8 parkinson disease, late-onset 12.1
9 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.9
10 glaucoma-related pigment dispersion syndrome 11.6
11 prolidase deficiency 11.6
12 multiple system atrophy 1 11.1
13 personality disorder 11.1
14 corticobasal degeneration 11.1
15 ehlers-danlos syndrome, spondylodysplastic type, 1 11.0
16 spondylodysplastic ehlers-danlos syndrome 11.0
17 mohr-tranebjaerg syndrome 11.0
18 ectodermal dysplasia/skin fragility syndrome 10.9
19 parkinson disease 19a, juvenile-onset 10.9
20 methylmalonyl-coa epimerase deficiency 10.9
21 hodgkin's lymphoma, nodular sclerosis 10.8 GJB2 SLC26A4
22 deafness, autosomal dominant 36 10.7 GJB2 SLC26A4
23 subacute lymphocytic thyroiditis 10.7 TG TPO
24 deafness, autosomal recessive 23 10.7 GJB2 SLC26A4
25 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.7 TG TPO
26 endemic goiter 10.7 TG TPO
27 plummer's disease 10.7 TG TPO
28 premature menopause 10.6 TG TPO
29 graves disease 1 10.6 TG TPO
30 hypothyroidism, congenital, nongoitrous, 4 10.6 TG TPO
31 deafness, autosomal recessive 26 10.6 GJB2 SLC26A4
32 nontoxic goiter 10.6 TG TPO
33 myxedema 10.6 TG TPO
34 toxic diffuse goiter 10.6 TG TPO
35 subacute thyroiditis 10.6 TG TPO
36 pernicious anemia 10.5 TG TPO
37 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.5 TG TPO
38 deafness, autosomal recessive 30 10.5 GJB2 SLC26A4
39 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.5 AQP2 KCNJ10
40 peripheral vertigo 10.5 AQP2 SLC26A4
41 deafness, autosomal recessive 16 10.4 GJB2 SLC26A4
42 thyroiditis 10.4
43 hashimoto thyroiditis 10.4 SLC26A4 TG TPO
44 congenital chloride diarrhea 10.4 SLC26A2 SLC26A3
45 autosomal recessive nonsyndromic deafness 3 10.4 GJB2 SLC26A4
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
47 spermatocele 10.3 SLC26A3 TG
48 ear malformation 10.3 FOXI1 GJB2 KCNJ10 SLC26A4
49 nodular goiter 10.2 TG TPO
50 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.2 GJB2 SLC26A4 SLC26A5
51 water-clear cell adenoma 10.1 PAX8 TG
52 sensorineural hearing loss 10.0
53 deafness, autosomal recessive 6 9.9 GJB2 SLC26A3 SLC26A5
54 athyreosis 9.9 PAX8 SLC26A4 TG
55 autoimmune disease of endocrine system 9.9 TG TPO
56 hypothyroidism, congenital, nongoitrous, 2 9.9 PAX8 SLC26A4 TG
57 vestibular disease 9.9 AQP2 FOXI1 GJB2 KCNJ10 SLC26A4
58 deafness, autosomal dominant 20 9.8 SLC26A2 SLC26A3 SLC26A8
59 thyroid cancer, nonmedullary, 1 9.8
60 aging 9.8
61 asthma 9.8
62 bipolar disorder 9.8
63 abducens nerve disease 9.8
64 hypokalemia 9.8
65 anaplastic thyroid cancer 9.7 PAX8 TG TPO
66 papillary carcinoma 9.7 PAX8 TG TPO
67 differentiated thyroid carcinoma 9.7 PAX8 TG TPO
68 thyroid cancer, nonmedullary, 2 9.7 PAX8 TG TPO
69 dyshormonogenic goiter 9.6 DUOX2 SLC26A2 SLC26A4 TG
70 achondrogenesis, type ib 9.6 SLC26A2 SLC26A3 SLC26A4 SLC26A5
71 multinodular goiter 9.5 PAX8 SLC26A4 TG TPO
72 follicular adenoma 9.5 PAX8 SLC26A4 TG TPO
73 thyroid cancer 9.4 PAX8 SLC26A4 TG TPO
74 diastrophic dysplasia 8.9 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
75 thyroid gland disease 8.8 DUOX2 PAX8 SLC26A4 TG TPO

Graphical network of the top 20 diseases related to Pendred Syndrome:



Diseases related to Pendred Syndrome

Symptoms & Phenotypes for Pendred Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
goiter

Endocrine Features:
euthyroid
hypothyroid
compensated hypothyroidism

Head And Neck Ears:
cochlear malformation
congenital neurosensory deafness
vestibular function defect (decreased in some, normal in other patients)

Laboratory Abnormalities:
thyroid hormone organification defect


Clinical features from OMIM:

274600

Human phenotypes related to Pendred Syndrome:

59 32 (showing 20, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 frequent (33%) Frequent (79-30%) HP:0000821
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
5 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
8 goiter 59 32 frequent (33%) Frequent (79-30%) HP:0000853
9 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
10 hyperparathyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000843
11 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
12 hypoplasia of the cochlea 59 32 hallmark (90%) Very frequent (99-80%) HP:0008586
13 thyroid carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002890
14 enlarged vestibular aqueduct 59 32 hallmark (90%) Very frequent (99-80%) HP:0011387
15 abnormality of metabolism/homeostasis 32 HP:0001939
16 congenital sensorineural hearing impairment 32 HP:0008527
17 abnormality of the inner ear 59 Very frequent (99-80%)
18 vestibular dysfunction 32 HP:0001751
19 cochlear malformation 32 HP:0008554
20 compensated hypothyroidism 32 HP:0008223

MGI Mouse Phenotypes related to Pendred Syndrome:

46 (showing 8, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 AQP2 DUOX2 GJB2 KCNJ10 PAX8 SLC26A2
2 homeostasis/metabolism MP:0005376 10.11 KCNJ10 PAX8 SLC26A3 SLC26A4 SLC4A1 TG
3 mortality/aging MP:0010768 10.02 SLC26A3 SLC4A1 TPO AQP2 FOXI1 GJB2
4 hearing/vestibular/ear MP:0005377 10.01 DUOX2 FOXI1 GJB2 KCNJ10 PAX8 SLC26A4
5 nervous system MP:0003631 9.91 DUOX2 FOXI1 GJB2 KCNJ10 KCNJ9 PAX8
6 renal/urinary system MP:0005367 9.63 AQP2 FOXI1 KCNJ10 PAX8 SLC26A4 SLC4A1
7 reproductive system MP:0005389 9.5 AQP2 DUOX2 FOXI1 GJB2 PAX8 SLC26A4
8 skeleton MP:0005390 9.17 DUOX2 FOXI1 GJB2 PAX8 SLC26A2 SLC26A4

Drugs & Therapeutics for Pendred Syndrome

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Analysis of Enlarged Vestibular Aqueducts Recruiting NCT00023036
2 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Pendred Syndrome

Cochrane evidence based reviews: pendred syndrome

Genetic Tests for Pendred Syndrome

Genetic tests related to Pendred Syndrome:

# Genetic test Affiliating Genes
1 Pendred's Syndrome 29 FOXI1 KCNJ10 SLC26A4

Anatomical Context for Pendred Syndrome

MalaCards organs/tissues related to Pendred Syndrome:

41
Thyroid, Testes

Publications for Pendred Syndrome

Articles related to Pendred Syndrome:

(showing 130, show less)
# Title Authors Year
1
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. ( 28222800 )
2017
2
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. ( 29372807 )
2017
3
Pendred syndrome. ( 28648509 )
2017
4
[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)]. ( 28091472 )
2016
5
Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma. ( 26744121 )
2016
6
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. ( 27241825 )
2016
7
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report. ( 26936928 )
2016
8
Delayed diagnosis of Pendred syndrome. ( 27620717 )
2016
9
Patients with Pendred syndrome:is cochlear implantation beneficial? ( 26331303 )
2015
10
Identification of a founder mutation for Pendred syndrome in families from northwest Iran. ( 25239229 )
2014
11
Analysis of the Thyroid Phenotype in 42 Patients with Pendred Syndrome and Nonsyndromic Enlargement of the Vestibular Aqueduct. ( 24224479 )
2014
12
Bipolar disorder in Pendred syndrome: a case report of two siblings. ( 24595510 )
2014
13
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. ( 25394566 )
2014
14
Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia. ( 24384016 )
2014
15
Goiter and hearing impairment: A case of a male patient with Pendred syndrome. ( 25295090 )
2014
16
A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome. ( 25223473 )
2014
17
Pendred syndrome with retrosternal goitre- a rare case report. ( 24426607 )
2013
18
Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome. ( 24353858 )
2013
19
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. ( 23965030 )
2013
20
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. ( 23705809 )
2013
21
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome. ( 23459462 )
2013
22
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome. ( 23838540 )
2013
23
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome. ( 24429823 )
2013
24
Novel heterozygous mutation c.662_663insG compound with IVS7-2A>G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome. ( 22906308 )
2012
25
A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. ( 22884721 )
2012
26
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome. ( 22429511 )
2012
27
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss. ( 22285650 )
2012
28
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. ( 21704276 )
2011
29
Clinical and molecular characteristics of Pendred syndrome. ( 21511235 )
2011
30
Life-threatening metabolic alkalosis in Pendred syndrome. ( 21551164 )
2011
31
An unfortunate case of Pendred syndrome. ( 21745434 )
2011
32
Cochlear implantation in Pendred syndrome. ( 21917203 )
2011
33
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family. ( 21416585 )
2011
34
Pendred syndrome in Tunisia. ( 20822748 )
2010
35
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. ( 21488234 )
2010
36
Genetics and phenomics of Pendred syndrome. ( 20298745 )
2010
37
Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome? ( 21274344 )
2010
38
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. ( 20583162 )
2010
39
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. ( 19648736 )
2010
40
Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? ( 19289392 )
2009
41
Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. ( 19318451 )
2009
42
Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. ( 19608655 )
2009
43
Goitre and hearing impairment in a patient with Pendred syndrome. ( 18349467 )
2008
44
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. ( 17876604 )
2008
45
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. ( 19189692 )
2008
46
Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. ( 18283249 )
2008
47
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. ( 17959752 )
2008
48
Pendred syndrome and iodide transport in the thyroid. ( 18692402 )
2008
49
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. ( 19169484 )
2008
50
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. ( 17940114 )
2008
51
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. ( 18285825 )
2008
52
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome. ( 18538122 )
2008
53
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. ( 19017801 )
2008
54
Two common and three novel PDS mutations in Thai patients with Pendred syndrome. ( 18250610 )
2007
55
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). ( 17503324 )
2007
56
Localized attachment loss in Pendred syndrome: incidental? ( 17470031 )
2007
57
Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. ( 17697873 )
2007
58
High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein. ( 17766716 )
2007
59
Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. ( 17299139 )
2007
60
Comparison of MRI findings with traditional criteria in diagnosis of Pendred syndrome. ( 17365057 )
2007
61
Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model. ( 17187680 )
2006
62
Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. ( 17075407 )
2006
63
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. ( 16791000 )
2006
64
Sensori-neural deafness and hypothyroidism: autoimmunity causing 'pseudo-Pendred syndrome'. ( 16582570 )
2006
65
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. ( 17322586 )
2006
66
Pendred syndrome: study of three families. ( 16482981 )
2005
67
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes. ( 15747138 )
2005
68
CT of the ear in Pendred syndrome. ( 15758191 )
2005
69
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. ( 15689455 )
2005
70
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. ( 15531480 )
2004
71
Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. ( 15320950 )
2004
72
Follicular carcinoma thyroid in Pendred syndrome. ( 15530279 )
2004
73
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. ( 14679580 )
2004
74
Enlarged endolymphatic duct and sac syndrome: relationship between MR findings and genotype of mutation in Pendred syndrome gene. ( 14972391 )
2004
75
A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss. ( 15513511 )
2004
76
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. ( 12920581 )
2003
77
Neuro-otological findings in Pendred syndrome. ( 12641391 )
2003
78
Pendred syndrome. ( 16444159 )
2003
79
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. ( 14508505 )
2003
80
Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations. ( 14727345 )
2003
81
Unilateral corneal anaesthesia and ulceration following squint surgery in a child with Pendred syndrome and bilateral sixth nerve palsy. ( 12928303 )
2003
82
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. ( 12974744 )
2003
83
Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. ( 14690057 )
2003
84
Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. ( 12727855 )
2003
85
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. ( 12408075 )
2002
86
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. ( 11919333 )
2002
87
Expression of PDS/Pds, the Pendred syndrome gene, in endometrium. ( 11836344 )
2002
88
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. ( 12354788 )
2002
89
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. ( 11932316 )
2002
90
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. ( 11317356 )
2001
91
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. ( 11720893 )
2001
92
Fluctuant, progressive hearing loss associated with MeniA"re like vertigo in three patients with the Pendred syndrome. ( 11700190 )
2001
93
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. ( 11152663 )
2001
94
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. ( 11274445 )
2001
95
Na(+)/I(-) symporter and Pendred syndrome gene and protein expressions in human extra-thyroidal tissues. ( 11248751 )
2001
96
Long-term audiological feature in Pendred syndrome caused by PDS mutation. ( 11405873 )
2001
97
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). ( 10861298 )
2000
98
Expression of Na+/I- symporter and Pendred syndrome genes in trophoblast cells. ( 11095481 )
2000
99
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene. ( 10700480 )
2000
100
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. ( 11603758 )
2000
101
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. ( 10650967 )
2000
102
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. ( 10602116 )
2000
103
Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues. ( 10843192 )
2000
104
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. ( 10868226 )
2000
105
Histopathological findings suggest the diagnosis in an atypical case of Pendred syndrome. ( 10607000 )
1999
106
Sulfate transport is not impaired in pendred syndrome thyrocytes. ( 10404839 )
1999
107
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. ( 10571950 )
1999
108
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. ( 10874637 )
1999
109
Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiter in one family. ( 10443670 )
1999
110
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. ( 10465108 )
1999
111
The Pendred syndrome gene encodes a chloride-iodide transport protein. ( 10192399 )
1999
112
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre). ( 9618167 )
1998
113
Two frequent missense mutations in Pendred syndrome. ( 9618166 )
1998
114
Radiological malformations of the ear in Pendred syndrome. ( 9585042 )
1998
115
Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. ( 9604973 )
1998
116
Townes-Brocks and Pendred syndrome in the same patient. ( 9600745 )
1998
117
Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425. ( 9541103 )
1998
118
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. ( 9039988 )
1997
119
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. ( 9070918 )
1997
120
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). ( 9398842 )
1997
121
Pendred syndrome--100 years of underascertainment? ( 9302427 )
1997
122
Pendred syndrome. ( 9004139 )
1996
123
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. ( 8630497 )
1996
124
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. ( 8630498 )
1996
125
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme. ( 1389454 )
1992
126
A patient with dup(10p)del(8q) and Pendred syndrome. ( 3717206 )
1986
127
[The diagnosis of the Pendred syndrome in children by the perchlorate discharge test with 123I (author's transl)]. ( 7216849 )
1981
128
Probable Pendred syndrome on Goodenough Island. ( 6937026 )
1980
129
Pendred syndrome (hereditary goiter and deafness). ( 5173174 )
1971
130
Thyroid function in a family with the Pendred syndrome. ( 4307394 )
1969

Variations for Pendred Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Pendred Syndrome:

75 (showing 41, show less)
# Symbol AA change Variation ID SNP ID
1 SLC26A4 p.Gly209Val VAR_007440 rs111033303
2 SLC26A4 p.Leu236Pro VAR_007441 rs80338848
3 SLC26A4 p.Thr416Pro VAR_007445 rs28939086
4 SLC26A4 p.Phe667Cys VAR_007447 rs121908360
5 SLC26A4 p.Thr721Met VAR_007448 rs121908363
6 SLC26A4 p.His723Arg VAR_007449 rs121908362
7 SLC26A4 p.Thr193Ile VAR_011623 rs111033348
8 SLC26A4 p.Ser28Arg VAR_021639 rs539699299
9 SLC26A4 p.Glu29Gln VAR_021640 rs111033205
10 SLC26A4 p.Tyr78Cys VAR_021641
11 SLC26A4 p.Gly102Arg VAR_021643
12 SLC26A4 p.Tyr105Cys VAR_021645
13 SLC26A4 p.Ala106Asp VAR_021646
14 SLC26A4 p.Leu117Phe VAR_021647 rs145254330
15 SLC26A4 p.Ser133Thr VAR_021649 rs121908365
16 SLC26A4 p.Ser137Pro VAR_021650
17 SLC26A4 p.Val138Phe VAR_021651 rs111033199
18 SLC26A4 p.Gly139Ala VAR_021652
19 SLC26A4 p.Val239Asp VAR_021653 rs111033256
20 SLC26A4 p.Asp271His VAR_021655
21 SLC26A4 p.Phe335Leu VAR_021656 rs111033212
22 SLC26A4 p.Ser391Asn VAR_021657
23 SLC26A4 p.Arg409His VAR_021659 rs111033305
24 SLC26A4 p.Thr410Met VAR_021661 rs111033220
25 SLC26A4 p.Ala411Pro VAR_021662
26 SLC26A4 p.Gln446Arg VAR_021665 rs768471577
27 SLC26A4 p.Val480Asp VAR_021668
28 SLC26A4 p.Tyr530His VAR_021670 rs111033254
29 SLC26A4 p.Ser552Ile VAR_021671
30 SLC26A4 p.Tyr556Cys VAR_021672 rs763006761
31 SLC26A4 p.Tyr556His VAR_021673
32 SLC26A4 p.Cys565Tyr VAR_021674 rs111033257
33 SLC26A4 p.Val653Ala VAR_021676
34 SLC26A4 p.Gly672Glu VAR_021677 rs111033309
35 SLC26A4 p.Ser694Pro VAR_021680 rs981410021
36 SLC26A4 p.Asp724Asn VAR_021681 rs994170964
37 SLC26A4 p.Thr508Asn VAR_027240
38 SLC26A4 p.Gln514Arg VAR_027241 rs111033316
39 SLC26A4 p.Tyr530Ser VAR_027242 rs747636919
40 SLC26A4 p.Val402Met VAR_058580 rs397516414
41 SLC26A4 p.Met775Thr VAR_058581

ClinVar genetic disease variations for Pendred Syndrome:

6
(showing 492, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A4 NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys) single nucleotide variant Pathogenic rs121908360 GRCh37 Chromosome 7, 107342468: 107342468
2 SLC26A4 NM_000441.1(SLC26A4): c.2000T> G (p.Phe667Cys) single nucleotide variant Pathogenic rs121908360 GRCh38 Chromosome 7, 107702023: 107702023
3 SLC26A4 SLC26A4, 1-BP DEL, 1565G deletion Pathogenic
4 SLC26A4 SLC26A4, 1-BP DEL, 1421T deletion Pathogenic
5 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh37 Chromosome 7, 107336429: 107336429
6 SLC26A4 NM_000441.1(SLC26A4): c.1489G> A (p.Gly497Ser) single nucleotide variant Pathogenic/Likely pathogenic rs111033308 GRCh38 Chromosome 7, 107695984: 107695984
7 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh37 Chromosome 7, 107315496: 107315496
8 SLC26A4 NM_000441.1(SLC26A4): c.707T> C (p.Leu236Pro) single nucleotide variant Pathogenic rs80338848 GRCh38 Chromosome 7, 107675051: 107675051
9 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh37 Chromosome 7, 107330665: 107330665
10 SLC26A4 NM_000441.1(SLC26A4): c.1246A> C (p.Thr416Pro) single nucleotide variant Pathogenic rs28939086 GRCh38 Chromosome 7, 107690220: 107690220
11 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
12 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> A single nucleotide variant Pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
13 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh37 Chromosome 7, 107330570: 107330570
14 SLC26A4 NM_000441.1(SLC26A4): c.1151A> G (p.Glu384Gly) single nucleotide variant Pathogenic/Likely pathogenic rs111033244 GRCh38 Chromosome 7, 107690125: 107690125
15 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh37 Chromosome 7, 107315415: 107315415
16 SLC26A4 NM_000441.1(SLC26A4): c.626G> T (p.Gly209Val) single nucleotide variant Pathogenic rs111033303 GRCh38 Chromosome 7, 107674970: 107674970
17 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh37 Chromosome 7, 107350577: 107350577
18 SLC26A4 NM_000441.1(SLC26A4): c.2168A> G (p.His723Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908362 GRCh38 Chromosome 7, 107710132: 107710132
19 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh37 Chromosome 7, 107350571: 107350571
20 SLC26A4 NM_000441.1(SLC26A4): c.2162C> T (p.Thr721Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908363 GRCh38 Chromosome 7, 107710126: 107710126
21 SLC26A4 SLC26A4, IVS4DS, A-G, +7 single nucleotide variant Pathogenic
22 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh37 Chromosome 7, 107334918: 107334918
23 SLC26A4 NM_000441.1(SLC26A4): c.1334T> G (p.Leu445Trp) single nucleotide variant Pathogenic rs111033307 GRCh38 Chromosome 7, 107694473: 107694473
24 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh37 Chromosome 7, 107314771: 107314771
25 SLC26A4 NM_000441.1(SLC26A4): c.578C> T (p.Thr193Ile) single nucleotide variant Pathogenic rs111033348 GRCh38 Chromosome 7, 107674326: 107674326
26 SLC26A4 SLC26A4, 1-BP DEL, 1197T deletion Pathogenic
27 SLC26A4 SLC26A4, 1-BP INS, 2182G insertion Pathogenic
28 SLC26A4 SLC26A4, IVS8, C-G, 1002-4 single nucleotide variant Pathogenic
29 SLC26A4 NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr) single nucleotide variant Pathogenic rs121908365 GRCh37 Chromosome 7, 107312675: 107312675
30 SLC26A4 NM_000441.1(SLC26A4): c.397T> A (p.Ser133Thr) single nucleotide variant Pathogenic rs121908365 GRCh38 Chromosome 7, 107672230: 107672230
31 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh37 Chromosome 7, 107312690: 107312690
32 SLC26A4 NM_000441.1(SLC26A4): c.412G> T (p.Val138Phe) single nucleotide variant Pathogenic rs111033199 GRCh38 Chromosome 7, 107672245: 107672245
33 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh37 Chromosome 7, 107338530: 107338530
34 SLC26A4 NM_000441.1(SLC26A4): c.1588T> C (p.Tyr530His) single nucleotide variant Pathogenic/Likely pathogenic rs111033254 GRCh38 Chromosome 7, 107698085: 107698085
35 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
36 SLC26A4 NM_000441.1(SLC26A4): c.85G> C (p.Glu29Gln) single nucleotide variant Pathogenic/Likely pathogenic rs111033205 GRCh38 Chromosome 7, 107661726: 107661726
37 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh37 Chromosome 7, 107323898: 107323898
38 SLC26A4 NM_000441.1(SLC26A4): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs111033313 GRCh38 Chromosome 7, 107683453: 107683453
39 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh37 Chromosome 5, 169535278: 169535278
40 FOXI1 NM_012188.4(FOXI1): c.800G> A (p.Arg267Gln) single nucleotide variant Pathogenic rs121909341 GRCh38 Chromosome 5, 170108274: 170108274
41 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh37 Chromosome 7, 107302082: 107302082
42 SLC26A4 NM_000441.1(SLC26A4): c.-3-2A> G single nucleotide variant Pathogenic rs397516411 GRCh38 Chromosome 7, 107661637: 107661637
43 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh37 Chromosome 7, 107329648: 107329648
44 SLC26A4 NM_000441.1(SLC26A4): c.1149+3A> G single nucleotide variant Pathogenic rs111033314 GRCh38 Chromosome 7, 107689203: 107689203
45 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh37 Chromosome 7, 107330617: 107330617
46 SLC26A4 NM_000441.1(SLC26A4): c.1198delT (p.Cys400Valfs) deletion Pathogenic/Likely pathogenic rs397516413 GRCh38 Chromosome 7, 107690172: 107690172
47 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
48 SLC26A4 NM_000441.1(SLC26A4): c.1226G> A (p.Arg409His) single nucleotide variant Pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200
49 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh37 Chromosome 7, 107330645: 107330645
50 SLC26A4 NM_000441.1(SLC26A4): c.1226G> C (p.Arg409Pro) single nucleotide variant Likely pathogenic rs111033305 GRCh38 Chromosome 7, 107690200: 107690200
51 SLC26A4 NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met) single nucleotide variant Pathogenic rs111033220 GRCh37 Chromosome 7, 107330648: 107330648
52 SLC26A4 NM_000441.1(SLC26A4): c.1229C> T (p.Thr410Met) single nucleotide variant Pathogenic rs111033220 GRCh38 Chromosome 7, 107690203: 107690203
53 SLC26A4 NM_000441.1(SLC26A4): c.1264-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs111033311 GRCh37 Chromosome 7, 107334847: 107334847
54 SLC26A4 NM_000441.1(SLC26A4): c.1264-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs111033311 GRCh38 Chromosome 7, 107694402: 107694402
55 SLC26A4 NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del) deletion Pathogenic/Likely pathogenic rs111033306 GRCh37 Chromosome 7, 107334868: 107334870
56 SLC26A4 NM_000441.1(SLC26A4): c.1284_1286delTGC (p.Ala429del) deletion Pathogenic/Likely pathogenic rs111033306 GRCh38 Chromosome 7, 107694423: 107694425
57 SLC26A4 NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516416 GRCh37 Chromosome 7, 107334920: 107334920
58 SLC26A4 NM_000441.1(SLC26A4): c.1336C> T (p.Gln446Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516416 GRCh38 Chromosome 7, 107694475: 107694475
59 SLC26A4 NM_000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs) deletion Pathogenic rs397516417 GRCh37 Chromosome 7, 107334926: 107334926
60 SLC26A4 NM_000441.1(SLC26A4): c.1341+1delG (p.Lys447Asnfs) deletion Pathogenic rs397516417 GRCh38 Chromosome 7, 107694481: 107694481
61 SLC26A4 NM_000441.1(SLC26A4): c.1342-2_1343dupAGTC duplication Pathogenic rs111033407 GRCh37 Chromosome 7, 107335064: 107335067
62 SLC26A4 NM_000441.1(SLC26A4): c.1342-2_1343dupAGTC duplication Pathogenic rs111033407 GRCh38 Chromosome 7, 107694619: 107694622
63 SLC26A4 NM_000441.1(SLC26A4): c.1437+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs397516418 GRCh37 Chromosome 7, 107335163: 107335163
64 SLC26A4 NM_000441.1(SLC26A4): c.1437+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs397516418 GRCh38 Chromosome 7, 107694718: 107694718
65 SLC26A4 NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg) single nucleotide variant Pathogenic rs111033316 GRCh37 Chromosome 7, 107336481: 107336481
66 SLC26A4 NM_000441.1(SLC26A4): c.1541A> G (p.Gln514Arg) single nucleotide variant Pathogenic rs111033316 GRCh38 Chromosome 7, 107696036: 107696036
67 SLC26A4 NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs) insertion Likely pathogenic rs111033317 GRCh37 Chromosome 7, 107338490: 107338491
68 SLC26A4 NM_000441.1(SLC26A4): c.1548_1549insC (p.Ser517Leufs) insertion Likely pathogenic rs111033317 GRCh38 Chromosome 7, 107698045: 107698046
69 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> A single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
70 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> A single nucleotide variant Pathogenic rs111033312 GRCh38 Chromosome 7, 107698112: 107698112
71 SLC26A4 NM_000441.1(SLC26A4): c.164+2T> C single nucleotide variant Pathogenic rs397516420 GRCh37 Chromosome 7, 107302252: 107302252
72 SLC26A4 NM_000441.1(SLC26A4): c.164+2T> C single nucleotide variant Pathogenic rs397516420 GRCh38 Chromosome 7, 107661807: 107661807
73 SLC26A4 NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr) single nucleotide variant Likely pathogenic rs111033257 GRCh37 Chromosome 7, 107340607: 107340607
74 SLC26A4 NM_000441.1(SLC26A4): c.1694G> A (p.Cys565Tyr) single nucleotide variant Likely pathogenic rs111033257 GRCh38 Chromosome 7, 107700162: 107700162
75 SLC26A4 NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter) single nucleotide variant Likely pathogenic rs111033200 GRCh37 Chromosome 7, 107303746: 107303746
76 SLC26A4 NM_000441.1(SLC26A4): c.170C> G (p.Ser57Ter) single nucleotide variant Likely pathogenic rs111033200 GRCh38 Chromosome 7, 107663301: 107663301
77 SLC26A4 NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val) single nucleotide variant Likely pathogenic rs397516424 GRCh37 Chromosome 7, 107342431: 107342431
78 SLC26A4 NM_000441.1(SLC26A4): c.1963A> G (p.Ile655Val) single nucleotide variant Likely pathogenic rs397516424 GRCh38 Chromosome 7, 107701986: 107701986
79 SLC26A4 NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs111033309 GRCh37 Chromosome 7, 107342483: 107342483
80 SLC26A4 NM_000441.1(SLC26A4): c.2015G> A (p.Gly672Glu) single nucleotide variant Pathogenic rs111033309 GRCh38 Chromosome 7, 107702038: 107702038
81 SLC26A4 NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln) single nucleotide variant Likely pathogenic rs111033318 GRCh37 Chromosome 7, 107342495: 107342495
82 SLC26A4 NM_000441.1(SLC26A4): c.2027T> A (p.Leu676Gln) single nucleotide variant Likely pathogenic rs111033318 GRCh38 Chromosome 7, 107702050: 107702050
83 SLC26A4 NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn) single nucleotide variant Likely pathogenic rs397516427 GRCh37 Chromosome 7, 107350554: 107350554
84 SLC26A4 NM_000441.1(SLC26A4): c.2145G> T (p.Lys715Asn) single nucleotide variant Likely pathogenic rs397516427 GRCh38 Chromosome 7, 107710109: 107710109
85 SLC26A4 NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter) single nucleotide variant Pathogenic rs397516428 GRCh37 Chromosome 7, 107350597: 107350597
86 SLC26A4 NM_000441.1(SLC26A4): c.2188C> T (p.Gln730Ter) single nucleotide variant Pathogenic rs397516428 GRCh38 Chromosome 7, 107710152: 107710152
87 SLC26A4 NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs) deletion Pathogenic/Likely pathogenic rs111033241 GRCh37 Chromosome 7, 107303870: 107303874
88 SLC26A4 NM_000441.1(SLC26A4): c.294_298delCACGC (p.Thr99Alafs) deletion Pathogenic/Likely pathogenic rs111033241 GRCh38 Chromosome 7, 107663425: 107663429
89 SLC26A4 NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033302 GRCh37 Chromosome 7, 107302088: 107302088
90 SLC26A4 NM_000441.1(SLC26A4): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033302 GRCh38 Chromosome 7, 107661643: 107661643
91 SLC26A4 NM_000441.1(SLC26A4): c.349C> T (p.Leu117Phe) single nucleotide variant Likely pathogenic rs145254330 GRCh37 Chromosome 7, 107312627: 107312627
92 SLC26A4 NM_000441.1(SLC26A4): c.349C> T (p.Leu117Phe) single nucleotide variant Likely pathogenic rs145254330 GRCh38 Chromosome 7, 107672182: 107672182
93 SLC26A4 NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs) indel Likely pathogenic rs111033400 GRCh37 Chromosome 7, 107312675: 107312676
94 SLC26A4 NM_000441.1(SLC26A4): c.397_398delTCinsA (p.Ser133Lysfs) indel Likely pathogenic rs111033400 GRCh38 Chromosome 7, 107672230: 107672231
95 SLC26A4 NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs111033380 GRCh37 Chromosome 7, 107314782: 107314782
96 SLC26A4 NM_000441.1(SLC26A4): c.589G> A (p.Gly197Arg) single nucleotide variant Likely pathogenic rs111033380 GRCh38 Chromosome 7, 107674337: 107674337
97 SLC26A4 NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516430 GRCh37 Chromosome 7, 107302154: 107302154
98 SLC26A4 NM_000441.1(SLC26A4): c.68C> A (p.Ser23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516430 GRCh38 Chromosome 7, 107661709: 107661709
99 SLC26A4 NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033256 GRCh37 Chromosome 7, 107315505: 107315505
100 SLC26A4 NM_000441.1(SLC26A4): c.716T> A (p.Val239Asp) single nucleotide variant Pathogenic/Likely pathogenic rs111033256 GRCh38 Chromosome 7, 107675060: 107675060
101 SLC26A4 NM_000441.1(SLC26A4): c.765+2T> C single nucleotide variant Pathogenic rs397516432 GRCh37 Chromosome 7, 107315556: 107315556
102 SLC26A4 NM_000441.1(SLC26A4): c.765+2T> C single nucleotide variant Pathogenic rs397516432 GRCh38 Chromosome 7, 107675111: 107675111
103 SLC26A4 NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter) single nucleotide variant Likely pathogenic rs111033205 GRCh37 Chromosome 7, 107302171: 107302171
104 SLC26A4 NM_000441.1(SLC26A4): c.85G> T (p.Glu29Ter) single nucleotide variant Likely pathogenic rs111033205 GRCh38 Chromosome 7, 107661726: 107661726
105 SLC26A4 NM_000441.1(SLC26A4): c.918+1G> T single nucleotide variant Likely pathogenic rs111033245 GRCh37 Chromosome 7, 107323800: 107323800
106 SLC26A4 NM_000441.1(SLC26A4): c.918+1G> T single nucleotide variant Likely pathogenic rs111033245 GRCh38 Chromosome 7, 107683355: 107683355
107 SLC26A4 NM_000441.1(SLC26A4): c.997_998insA (p.Arg333Lysfs) insertion Pathogenic rs431905486 GRCh37 Chromosome 7, 107323978: 107323978
108 SLC26A4 NM_000441.1(SLC26A4): c.997_998insA (p.Arg333Lysfs) insertion Pathogenic rs431905486 GRCh38 Chromosome 7, 107683533: 107683533
109 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh37 Chromosome 7, 107301305: 107301305
110 SLC26A4 NM_000441.1(SLC26A4): c.-4+5G> A single nucleotide variant Likely pathogenic rs727503425 GRCh38 Chromosome 7, 107660860: 107660860
111 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh37 Chromosome 7, 107340626: 107340626
112 SLC26A4 NM_000441.1(SLC26A4): c.1707+6T> C single nucleotide variant Likely pathogenic rs727505230 GRCh38 Chromosome 7, 107700181: 107700181
113 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh37 Chromosome 7, 107344831: 107344831
114 SLC26A4 NM_000441.1(SLC26A4): c.2089+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503430 GRCh38 Chromosome 7, 107704386: 107704386
115 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh37 Chromosome 7, 107350624: 107350624
116 SLC26A4 NM_000441.1(SLC26A4): c.2215C> T (p.Gln739Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503431 GRCh38 Chromosome 7, 107710179: 107710179
117 SLC26A4 NM_000441.1(SLC26A4): c.841G> A (p.Val281Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505080 GRCh37 Chromosome 7, 107323722: 107323722
118 SLC26A4 NM_000441.1(SLC26A4): c.841G> A (p.Val281Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505080 GRCh38 Chromosome 7, 107683277: 107683277
119 SLC26A4 NM_000441.1(SLC26A4): c.1050G> A (p.Leu350=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504993 GRCh37 Chromosome 7, 107329546: 107329546
120 SLC26A4 NM_000441.1(SLC26A4): c.1050G> A (p.Leu350=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504993 GRCh38 Chromosome 7, 107689101: 107689101
121 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh37 Chromosome 7, 107338496: 107338496
122 SLC26A4 NM_000441.1(SLC26A4): c.1554G> A (p.Trp518Ter) single nucleotide variant Pathogenic rs727503428 GRCh38 Chromosome 7, 107698051: 107698051
123 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh37 Chromosome 7, 107338557: 107338557
124 SLC26A4 NM_000441.1(SLC26A4): c.1614+1G> C single nucleotide variant Pathogenic rs111033312 GRCh38 Chromosome 7, 107698112: 107698112
125 SLC26A4 NM_000441.1(SLC26A4): c.1920G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs368119540 GRCh38 Chromosome 7, 107701943: 107701943
126 SLC26A4 NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs786204426 GRCh38 Chromosome 7, 107661644: 107661644
127 SLC26A4 NM_000441.1(SLC26A4): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic/Likely pathogenic rs786204426 GRCh37 Chromosome 7, 107302089: 107302089
128 SLC26A4 NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg) single nucleotide variant Pathogenic/Likely pathogenic rs539699299 GRCh37 Chromosome 7, 107302170: 107302170
129 SLC26A4 NM_000441.1(SLC26A4): c.84C> A (p.Ser28Arg) single nucleotide variant Pathogenic/Likely pathogenic rs539699299 GRCh38 Chromosome 7, 107661725: 107661725
130 SLC26A4 NM_000441.1(SLC26A4): c.164+1delG deletion Likely pathogenic rs786204504 GRCh38 Chromosome 7, 107661806: 107661806
131 SLC26A4 NM_000441.1(SLC26A4): c.164+1delG deletion Likely pathogenic rs786204504 GRCh37 Chromosome 7, 107302251: 107302251
132 SLC26A4 NM_000441.1(SLC26A4): c.165-2A> G single nucleotide variant Likely pathogenic rs786204458 GRCh37 Chromosome 7, 107303739: 107303739
133 SLC26A4 NM_000441.1(SLC26A4): c.165-2A> G single nucleotide variant Likely pathogenic rs786204458 GRCh38 Chromosome 7, 107663294: 107663294
134 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs786204581 GRCh38 Chromosome 7, 107663366: 107663366
135 SLC26A4 NM_000441.1(SLC26A4): c.235C> T (p.Arg79Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs786204581 GRCh37 Chromosome 7, 107303811: 107303811
136 SLC26A4 NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu) single nucleotide variant Likely pathogenic rs370588279 GRCh38 Chromosome 7, 107663400: 107663400
137 SLC26A4 NM_000441.1(SLC26A4): c.269C> T (p.Ser90Leu) single nucleotide variant Likely pathogenic rs370588279 GRCh37 Chromosome 7, 107303845: 107303845
138 SLC26A4 NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs) deletion Pathogenic/Likely pathogenic rs786204421 GRCh37 Chromosome 7, 107303855: 107303855
139 SLC26A4 NM_000441.1(SLC26A4): c.279delT (p.Ser93Argfs) deletion Pathogenic/Likely pathogenic rs786204421 GRCh38 Chromosome 7, 107663410: 107663410
140 SLC26A4 NM_000441.1(SLC26A4): c.304+2T> C single nucleotide variant Likely pathogenic rs746238617 GRCh37 Chromosome 7, 107303882: 107303882
141 SLC26A4 NM_000441.1(SLC26A4): c.304+2T> C single nucleotide variant Likely pathogenic rs746238617 GRCh38 Chromosome 7, 107663437: 107663437
142 SLC26A4 NM_000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs) duplication Likely pathogenic rs786204730 GRCh38 Chromosome 7, 107672198: 107672198
143 SLC26A4 NM_000441.1(SLC26A4): c.365dupT (p.Ile124Tyrfs) duplication Likely pathogenic rs786204730 GRCh37 Chromosome 7, 107312643: 107312643
144 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Pathogenic/Likely pathogenic rs542620119 GRCh37 Chromosome 7, 107314747: 107314747
145 SLC26A4 NM_000441.1(SLC26A4): c.554G> C (p.Arg185Thr) single nucleotide variant Pathogenic/Likely pathogenic rs542620119 GRCh38 Chromosome 7, 107674302: 107674302
146 SLC26A4 NM_000441.1(SLC26A4): c.890delC (p.Pro297Glnfs) deletion Likely pathogenic rs786204600 GRCh37 Chromosome 7, 107323771: 107323771
147 SLC26A4 NM_000441.1(SLC26A4): c.890delC (p.Pro297Glnfs) deletion Likely pathogenic rs786204600 GRCh38 Chromosome 7, 107683326: 107683326
148 SLC26A4 NM_000441.1(SLC26A4): c.1001G> T (p.Gly334Val) single nucleotide variant Likely pathogenic rs146281367 GRCh38 Chromosome 7, 107683537: 107683537
149 SLC26A4 NM_000441.1(SLC26A4): c.1001G> T (p.Gly334Val) single nucleotide variant Likely pathogenic rs146281367 GRCh37 Chromosome 7, 107323982: 107323982
150 SLC26A4 NM_000441.1(SLC26A4): c.1079C> T (p.Ala360Val) single nucleotide variant Likely pathogenic rs786204474 GRCh37 Chromosome 7, 107329575: 107329575
151 SLC26A4 NM_000441.1(SLC26A4): c.1079C> T (p.Ala360Val) single nucleotide variant Likely pathogenic rs786204474 GRCh38 Chromosome 7, 107689130: 107689130
152 SLC26A4 NM_000441.1(SLC26A4): c.1520delT (p.Leu507Terfs) deletion Likely pathogenic rs786204601 GRCh37 Chromosome 7, 107336460: 107336460
153 SLC26A4 NM_000441.1(SLC26A4): c.1520delT (p.Leu507Terfs) deletion Likely pathogenic rs786204601 GRCh38 Chromosome 7, 107696015: 107696015
154 SLC26A4 NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs) duplication Likely pathogenic rs786204450 GRCh37 Chromosome 7, 107338489: 107338489
155 SLC26A4 NM_000441.1(SLC26A4): c.1547dupC (p.Ser517Phefs) duplication Likely pathogenic rs786204450 GRCh38 Chromosome 7, 107698044: 107698044
156 SLC26A4 NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786204739 GRCh37 Chromosome 7, 107338528: 107338528
157 SLC26A4 NM_000441.1(SLC26A4): c.1586T> G (p.Ile529Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786204739 GRCh38 Chromosome 7, 107698083: 107698083
158 SLC26A4 NM_000441.1(SLC26A4): c.1919G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs786204502 GRCh37 Chromosome 7, 107342387: 107342387
159 SLC26A4 NM_000441.1(SLC26A4): c.1919G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs786204502 GRCh38 Chromosome 7, 107701942: 107701942
160 SLC26A4 NM_000441.1(SLC26A4): c.1920G> A (p.Trp640Ter) single nucleotide variant Likely pathogenic rs368119540 GRCh37 Chromosome 7, 107342388: 107342388
161 SLC26A4 NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu) single nucleotide variant Pathogenic/Likely pathogenic rs200455203 GRCh38 Chromosome 7, 107701998: 107701998
162 SLC26A4 NM_000441.1(SLC26A4): c.1975G> C (p.Val659Leu) single nucleotide variant Pathogenic/Likely pathogenic rs200455203 GRCh37 Chromosome 7, 107342443: 107342443
163 SLC26A4 NM_000441.1(SLC26A4): c.2086C> T (p.Gln696Ter) single nucleotide variant Likely pathogenic rs752807925 GRCh37 Chromosome 7, 107344827: 107344827
164 SLC26A4 NM_000441.1(SLC26A4): c.2086C> T (p.Gln696Ter) single nucleotide variant Likely pathogenic rs752807925 GRCh38 Chromosome 7, 107704382: 107704382
165 SLC26A4 NM_000441.1(SLC26A4): c.2127delT (p.Phe709Leufs) deletion Likely pathogenic rs786204523 GRCh37 Chromosome 7, 107350536: 107350536
166 SLC26A4 NM_000441.1(SLC26A4): c.2127delT (p.Phe709Leufs) deletion Likely pathogenic rs786204523 GRCh38 Chromosome 7, 107710091: 107710091
167 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh37 Chromosome 1, 160011793: 160011793
168 KCNJ10 NM_002241.4(KCNJ10): c.530A> G (p.Glu177Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145947380 GRCh38 Chromosome 1, 160042003: 160042003
169 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh37 Chromosome 1, 160011588: 160011588
170 KCNJ10 NM_002241.4(KCNJ10): c.735C> G (p.Asp245Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146426296 GRCh38 Chromosome 1, 160041798: 160041798
171 SLC26A4 NM_000441.1(SLC26A4): c.1544+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs876657722 GRCh38 Chromosome 7, 107696040: 107696040
172 SLC26A4 NM_000441.1(SLC26A4): c.1544+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs876657722 GRCh37 Chromosome 7, 107336485: 107336485
173 SLC26A4 NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly) single nucleotide variant Pathogenic rs757820624 GRCh37 Chromosome 7, 107350580: 107350580
174 SLC26A4 NM_000441.1(SLC26A4): c.2171A> G (p.Asp724Gly) single nucleotide variant Pathogenic rs757820624 GRCh38 Chromosome 7, 107710135: 107710135
175 SLC26A4 NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs) deletion Pathogenic rs876657723 GRCh38 Chromosome 7, 107710188: 107710188
176 SLC26A4 NM_000441.1(SLC26A4): c.2224delA (p.Ile742Phefs) deletion Pathogenic rs876657723 GRCh37 Chromosome 7, 107350633: 107350633
177 FOXI1 NM_012188.4(FOXI1): c.1044T> C (p.Tyr348=) single nucleotide variant Benign rs10063424 GRCh37 Chromosome 5, 169535522: 169535522
178 FOXI1 NM_012188.4(FOXI1): c.1044T> C (p.Tyr348=) single nucleotide variant Benign rs10063424 GRCh38 Chromosome 5, 170108518: 170108518
179 SLC26A4 NM_000441.1(SLC26A4): c.1222delT (p.Ser408Profs) deletion Pathogenic rs886043058 GRCh37 Chromosome 7, 107330641: 107330641
180 SLC26A4 NM_000441.1(SLC26A4): c.1222delT (p.Ser408Profs) deletion Pathogenic rs886043058 GRCh38 Chromosome 7, 107690196: 107690196
181 FOXI1 NM_012188.4(FOXI1): c.825C> T (p.Ala275=) single nucleotide variant Uncertain significance rs147596900 GRCh37 Chromosome 5, 169535303: 169535303
182 FOXI1 NM_012188.4(FOXI1): c.825C> T (p.Ala275=) single nucleotide variant Uncertain significance rs147596900 GRCh38 Chromosome 5, 170108299: 170108299
183 FOXI1 NM_012188.4(FOXI1): c.997G> A (p.Gly333Ser) single nucleotide variant Uncertain significance rs145046338 GRCh37 Chromosome 5, 169535475: 169535475
184 FOXI1 NM_012188.4(FOXI1): c.997G> A (p.Gly333Ser) single nucleotide variant Uncertain significance rs145046338 GRCh38 Chromosome 5, 170108471: 170108471
185 KCNJ10 NM_002241.4(KCNJ10): c.615A> G (p.Lys205=) single nucleotide variant Conflicting interpretations of pathogenicity rs142228240 GRCh37 Chromosome 1, 160011708: 160011708
186 KCNJ10 NM_002241.4(KCNJ10): c.615A> G (p.Lys205=) single nucleotide variant Conflicting interpretations of pathogenicity rs142228240 GRCh38 Chromosome 1, 160041918: 160041918
187 FOXI1 NM_012188.4(FOXI1): c.442C> G (p.Gln148Glu) single nucleotide variant Uncertain significance rs553561553 GRCh37 Chromosome 5, 169533403: 169533403
188 FOXI1 NM_012188.4(FOXI1): c.442C> G (p.Gln148Glu) single nucleotide variant Uncertain significance rs553561553 GRCh38 Chromosome 5, 170106399: 170106399
189 SLC26A4 NM_000441.1(SLC26A4): c.382_384delTTTinsAA (p.Phe128Lysfs) indel Pathogenic rs886044696 GRCh37 Chromosome 7, 107312660: 107312662
190 SLC26A4 NM_000441.1(SLC26A4): c.382_384delTTTinsAA (p.Phe128Lysfs) indel Pathogenic rs886044696 GRCh38 Chromosome 7, 107672215: 107672217
191 KCNJ10 NM_002241.4(KCNJ10): c.*3617A> T single nucleotide variant Uncertain significance rs754184905 GRCh37 Chromosome 1, 160007566: 160007566
192 KCNJ10 NM_002241.4(KCNJ10): c.*3617A> T single nucleotide variant Uncertain significance rs754184905 GRCh38 Chromosome 1, 160037776: 160037776
193 KCNJ10 NM_002241.4(KCNJ10): c.*3170G> A single nucleotide variant Uncertain significance rs886045395 GRCh37 Chromosome 1, 160008013: 160008013
194 KCNJ10 NM_002241.4(KCNJ10): c.*3170G> A single nucleotide variant Uncertain significance rs886045395 GRCh38 Chromosome 1, 160038223: 160038223
195 KCNJ10 NM_002241.4(KCNJ10): c.*3104T> A single nucleotide variant Uncertain significance rs376496371 GRCh37 Chromosome 1, 160008079: 160008079
196 KCNJ10 NM_002241.4(KCNJ10): c.*3104T> A single nucleotide variant Uncertain significance rs376496371 GRCh38 Chromosome 1, 160038289: 160038289
197 KCNJ10 NM_002241.4(KCNJ10): c.*3023T> C single nucleotide variant Uncertain significance rs886045396 GRCh37 Chromosome 1, 160008160: 160008160
198 KCNJ10 NM_002241.4(KCNJ10): c.*3023T> C single nucleotide variant Uncertain significance rs886045396 GRCh38 Chromosome 1, 160038370: 160038370
199 KCNJ10 NM_002241.4(KCNJ10): c.*2373C> T single nucleotide variant Uncertain significance rs117037263 GRCh38 Chromosome 1, 160039020: 160039020
200 KCNJ10 NM_002241.4(KCNJ10): c.*2373C> T single nucleotide variant Uncertain significance rs117037263 GRCh37 Chromosome 1, 160008810: 160008810
201 KCNJ10 NM_002241.4(KCNJ10): c.*2062T> G single nucleotide variant Likely benign rs1053074 GRCh38 Chromosome 1, 160039331: 160039331
202 KCNJ10 NM_002241.4(KCNJ10): c.*2062T> G single nucleotide variant Likely benign rs1053074 GRCh37 Chromosome 1, 160009121: 160009121
203 KCNJ10 NM_002241.4(KCNJ10): c.*2018_*2019delGT deletion Uncertain significance rs72013077 GRCh38 Chromosome 1, 160039374: 160039375
204 KCNJ10 NM_002241.4(KCNJ10): c.*2018_*2019delGT deletion Uncertain significance rs72013077 GRCh37 Chromosome 1, 160009164: 160009165
205 KCNJ10 NM_002241.4(KCNJ10): c.*1839C> T single nucleotide variant Uncertain significance rs138511291 GRCh38 Chromosome 1, 160039554: 160039554
206 KCNJ10 NM_002241.4(KCNJ10): c.*1839C> T single nucleotide variant Uncertain significance rs138511291 GRCh37 Chromosome 1, 160009344: 160009344
207 KCNJ10 NM_002241.4(KCNJ10): c.*1764T> G single nucleotide variant Benign rs2486253 GRCh38 Chromosome 1, 160039629: 160039629
208 KCNJ10 NM_002241.4(KCNJ10): c.*1764T> G single nucleotide variant Benign rs2486253 GRCh37 Chromosome 1, 160009419: 160009419
209 KCNJ10 NM_002241.4(KCNJ10): c.*1653T> C single nucleotide variant Uncertain significance rs886045407 GRCh38 Chromosome 1, 160039740: 160039740
210 KCNJ10 NM_002241.4(KCNJ10): c.*1653T> C single nucleotide variant Uncertain significance rs886045407 GRCh37 Chromosome 1, 160009530: 160009530
211 KCNJ10 NM_002241.4(KCNJ10): c.*1161T> C single nucleotide variant Uncertain significance rs149832483 GRCh38 Chromosome 1, 160040232: 160040232
212 KCNJ10 NM_002241.4(KCNJ10): c.*1161T> C single nucleotide variant Uncertain significance rs149832483 GRCh37 Chromosome 1, 160010022: 160010022
213 KCNJ10 NM_002241.4(KCNJ10): c.*783A> G single nucleotide variant Uncertain significance rs886045409 GRCh38 Chromosome 1, 160040610: 160040610
214 KCNJ10 NM_002241.4(KCNJ10): c.*783A> G single nucleotide variant Uncertain significance rs886045409 GRCh37 Chromosome 1, 160010400: 160010400
215 KCNJ10 NM_002241.4(KCNJ10): c.*729G> C single nucleotide variant Uncertain significance rs886045410 GRCh37 Chromosome 1, 160010454: 160010454
216 KCNJ10 NM_002241.4(KCNJ10): c.*729G> C single nucleotide variant Uncertain significance rs886045410 GRCh38 Chromosome 1, 160040664: 160040664
217 KCNJ10 NM_002241.4(KCNJ10): c.*237A> G single nucleotide variant Uncertain significance rs886045412 GRCh37 Chromosome 1, 160010946: 160010946
218 KCNJ10 NM_002241.4(KCNJ10): c.*237A> G single nucleotide variant Uncertain significance rs886045412 GRCh38 Chromosome 1, 160041156: 160041156
219 KCNJ10 NM_002241.4(KCNJ10): c.-168C> A single nucleotide variant Uncertain significance rs886045413 GRCh37 Chromosome 1, 160039979: 160039979
220 KCNJ10 NM_002241.4(KCNJ10): c.-168C> A single nucleotide variant Uncertain significance rs886045413 GRCh38 Chromosome 1, 160070189: 160070189
221 KCNJ10 NM_002241.4(KCNJ10): c.*3853G> C single nucleotide variant Uncertain significance rs138599071 GRCh37 Chromosome 1, 160007330: 160007330
222 KCNJ10 NM_002241.4(KCNJ10): c.*3853G> C single nucleotide variant Uncertain significance rs138599071 GRCh38 Chromosome 1, 160037540: 160037540
223 KCNJ10 NM_002241.4(KCNJ10): c.*3840T> C single nucleotide variant Uncertain significance rs886045393 GRCh37 Chromosome 1, 160007343: 160007343
224 KCNJ10 NM_002241.4(KCNJ10): c.*3840T> C single nucleotide variant Uncertain significance rs886045393 GRCh38 Chromosome 1, 160037553: 160037553
225 KCNJ10 NM_002241.4(KCNJ10): c.*3180G> C single nucleotide variant Uncertain significance rs758537153 GRCh37 Chromosome 1, 160008003: 160008003
226 KCNJ10 NM_002241.4(KCNJ10): c.*3180G> C single nucleotide variant Uncertain significance rs758537153 GRCh38 Chromosome 1, 160038213: 160038213
227 KCNJ10 NM_002241.4(KCNJ10): c.*2971G> A single nucleotide variant Uncertain significance rs886045397 GRCh37 Chromosome 1, 160008212: 160008212
228 KCNJ10 NM_002241.4(KCNJ10): c.*2971G> A single nucleotide variant Uncertain significance rs886045397 GRCh38 Chromosome 1, 160038422: 160038422
229 KCNJ10 NM_002241.4(KCNJ10): c.*2675_*2676delGG deletion Uncertain significance rs886045398 GRCh37 Chromosome 1, 160008507: 160008508
230 KCNJ10 NM_002241.4(KCNJ10): c.*2675_*2676delGG deletion Uncertain significance rs886045398 GRCh38 Chromosome 1, 160038717: 160038718
231 KCNJ10 NM_002241.4(KCNJ10): c.*2490G> A single nucleotide variant Uncertain significance rs190897143 GRCh37 Chromosome 1, 160008693: 160008693
232 KCNJ10 NM_002241.4(KCNJ10): c.*2490G> A single nucleotide variant Uncertain significance rs190897143 GRCh38 Chromosome 1, 160038903: 160038903
233 KCNJ10 NM_002241.4(KCNJ10): c.*2479G> A single nucleotide variant Uncertain significance rs142986779 GRCh37 Chromosome 1, 160008704: 160008704
234 KCNJ10 NM_002241.4(KCNJ10): c.*2479G> A single nucleotide variant Uncertain significance rs142986779 GRCh38 Chromosome 1, 160038914: 160038914
235 KCNJ10 NM_002241.4(KCNJ10): c.*2459T> G single nucleotide variant Uncertain significance rs532869749 GRCh37 Chromosome 1, 160008724: 160008724
236 KCNJ10 NM_002241.4(KCNJ10): c.*2459T> G single nucleotide variant Uncertain significance rs532869749 GRCh38 Chromosome 1, 160038934: 160038934
237 KCNJ10 NM_002241.4(KCNJ10): c.*2394T> C single nucleotide variant Uncertain significance rs116235450 GRCh38 Chromosome 1, 160038999: 160038999
238 KCNJ10 NM_002241.4(KCNJ10): c.*2394T> C single nucleotide variant Uncertain significance rs116235450 GRCh37 Chromosome 1, 160008789: 160008789
239 KCNJ10 NM_002241.4(KCNJ10): c.*2016_*2019delGTGT deletion Likely benign rs374594439 GRCh38 Chromosome 1, 160039374: 160039377
240 KCNJ10 NM_002241.4(KCNJ10): c.*2016_*2019delGTGT deletion Likely benign rs374594439 GRCh37 Chromosome 1, 160009164: 160009167
241 KCNJ10 NM_002241.4(KCNJ10): c.*2016_*2019dupGTGT duplication Uncertain significance rs886045402 GRCh38 Chromosome 1, 160039374: 160039377
242 KCNJ10 NM_002241.4(KCNJ10): c.*2016_*2019dupGTGT duplication Uncertain significance rs886045402 GRCh37 Chromosome 1, 160009164: 160009167
243 KCNJ10 NM_002241.4(KCNJ10): c.*1788C> T single nucleotide variant Uncertain significance rs550315680 GRCh37 Chromosome 1, 160009395: 160009395
244 KCNJ10 NM_002241.4(KCNJ10): c.*1788C> T single nucleotide variant Uncertain significance rs550315680 GRCh38 Chromosome 1, 160039605: 160039605
245 KCNJ10 NM_002241.4(KCNJ10): c.*734C> T single nucleotide variant Uncertain significance rs778432509 GRCh38 Chromosome 1, 160040659: 160040659
246 KCNJ10 NM_002241.4(KCNJ10): c.*734C> T single nucleotide variant Uncertain significance rs778432509 GRCh37 Chromosome 1, 160010449: 160010449
247 KCNJ10 NM_002241.4(KCNJ10): c.*680T> G single nucleotide variant Uncertain significance rs886045411 GRCh37 Chromosome 1, 160010503: 160010503
248 KCNJ10 NM_002241.4(KCNJ10): c.*680T> G single nucleotide variant Uncertain significance rs886045411 GRCh38 Chromosome 1, 160040713: 160040713
249 KCNJ10 NM_002241.4(KCNJ10): c.*171C> T single nucleotide variant Uncertain significance rs539110996 GRCh37 Chromosome 1, 160011012: 160011012
250 KCNJ10 NM_002241.4(KCNJ10): c.*171C> T single nucleotide variant Uncertain significance rs539110996 GRCh38 Chromosome 1, 160041222: 160041222
251 KCNJ10 NM_002241.4(KCNJ10): c.-183C> T single nucleotide variant Uncertain significance rs374287142 GRCh37 Chromosome 1, 160039994: 160039994
252 KCNJ10 NM_002241.4(KCNJ10): c.-183C> T single nucleotide variant Uncertain significance rs374287142 GRCh38 Chromosome 1, 160070204: 160070204
253 KCNJ10 NM_002241.4(KCNJ10): c.*3506C> T single nucleotide variant Uncertain significance rs79012831 GRCh37 Chromosome 1, 160007677: 160007677
254 KCNJ10 NM_002241.4(KCNJ10): c.*3506C> T single nucleotide variant Uncertain significance rs79012831 GRCh38 Chromosome 1, 160037887: 160037887
255 KCNJ10 NM_002241.4(KCNJ10): c.*2827C> T single nucleotide variant Uncertain significance rs183270733 GRCh37 Chromosome 1, 160008356: 160008356
256 KCNJ10 NM_002241.4(KCNJ10): c.*2827C> T single nucleotide variant Uncertain significance rs183270733 GRCh38 Chromosome 1, 160038566: 160038566
257 KCNJ10 NM_002241.4(KCNJ10): c.*2649G> A single nucleotide variant Uncertain significance rs886045399 GRCh37 Chromosome 1, 160008534: 160008534
258 KCNJ10 NM_002241.4(KCNJ10): c.*2649G> A single nucleotide variant Uncertain significance rs886045399 GRCh38 Chromosome 1, 160038744: 160038744
259 KCNJ10 NM_002241.4(KCNJ10): c.*2530G> C single nucleotide variant Uncertain significance rs886045400 GRCh37 Chromosome 1, 160008653: 160008653
260 KCNJ10 NM_002241.4(KCNJ10): c.*2530G> C single nucleotide variant Uncertain significance rs886045400 GRCh38 Chromosome 1, 160038863: 160038863
261 KCNJ10 NM_002241.4(KCNJ10): c.*2520C> T single nucleotide variant Uncertain significance rs886045401 GRCh37 Chromosome 1, 160008663: 160008663
262 KCNJ10 NM_002241.4(KCNJ10): c.*2520C> T single nucleotide variant Uncertain significance rs886045401 GRCh38 Chromosome 1, 160038873: 160038873
263 KCNJ10 NM_002241.4(KCNJ10): c.*2040C> G single nucleotide variant Benign rs2486254 GRCh38 Chromosome 1, 160039353: 160039353
264 KCNJ10 NM_002241.4(KCNJ10): c.*2040C> G single nucleotide variant Benign rs2486254 GRCh37 Chromosome 1, 160009143: 160009143
265 KCNJ10 NM_002241.4(KCNJ10): c.*2014_*2019dupGTGTGT duplication Uncertain significance rs886045402 GRCh38 Chromosome 1, 160039374: 160039379
266 KCNJ10 NM_002241.4(KCNJ10): c.*2014_*2019dupGTGTGT duplication Uncertain significance rs886045402 GRCh37 Chromosome 1, 160009164: 160009169
267 KCNJ10 NM_002241.4(KCNJ10): c.*2012_*2019delGTGTGTGT deletion Uncertain significance rs886045403 GRCh38 Chromosome 1, 160039374: 160039381
268 KCNJ10 NM_002241.4(KCNJ10): c.*2012_*2019delGTGTGTGT deletion Uncertain significance rs886045403 GRCh37 Chromosome 1, 160009164: 160009171
269 KCNJ10 NM_002241.4(KCNJ10): c.*1435C> T single nucleotide variant Uncertain significance rs150657925 GRCh38 Chromosome 1, 160039958: 160039958
270 KCNJ10 NM_002241.4(KCNJ10): c.*1435C> T single nucleotide variant Uncertain significance rs150657925 GRCh37 Chromosome 1, 160009748: 160009748
271 KCNJ10 NM_002241.4(KCNJ10): c.*991A> G single nucleotide variant Uncertain significance rs187278337 GRCh38 Chromosome 1, 160040402: 160040402
272 KCNJ10 NM_002241.4(KCNJ10): c.*991A> G single nucleotide variant Uncertain significance rs187278337 GRCh37 Chromosome 1, 160010192: 160010192
273 KCNJ10 NM_002241.4(KCNJ10): c.*73C> T single nucleotide variant Uncertain significance rs184428585 GRCh37 Chromosome 1, 160011110: 160011110
274 KCNJ10 NM_002241.4(KCNJ10): c.*73C> T single nucleotide variant Uncertain significance rs184428585 GRCh38 Chromosome 1, 160041320: 160041320
275 KCNJ10 NM_002241.4(KCNJ10): c.*52G> A single nucleotide variant Uncertain significance rs148441646 GRCh37 Chromosome 1, 160011131: 160011131
276 KCNJ10 NM_002241.4(KCNJ10): c.*52G> A single nucleotide variant Uncertain significance rs148441646 GRCh38 Chromosome 1, 160041341: 160041341
277 KCNJ10 NM_002241.4(KCNJ10): c.*21A> G single nucleotide variant Uncertain significance rs377019389 GRCh37 Chromosome 1, 160011162: 160011162
278 KCNJ10 NM_002241.4(KCNJ10): c.*21A> G single nucleotide variant Uncertain significance rs377019389 GRCh38 Chromosome 1, 160041372: 160041372
279 KCNJ10 NM_002241.4(KCNJ10): c.405C> T (p.Tyr135=) single nucleotide variant Uncertain significance rs765590257 GRCh37 Chromosome 1, 160011918: 160011918
280 KCNJ10 NM_002241.4(KCNJ10): c.405C> T (p.Tyr135=) single nucleotide variant Uncertain significance rs765590257 GRCh38 Chromosome 1, 160042128: 160042128
281 KCNJ10 NM_002241.4(KCNJ10): c.296T> C (p.Leu99Pro) single nucleotide variant Uncertain significance rs540341763 GRCh37 Chromosome 1, 160012027: 160012027
282 KCNJ10 NM_002241.4(KCNJ10): c.296T> C (p.Leu99Pro) single nucleotide variant Uncertain significance rs540341763 GRCh38 Chromosome 1, 160042237: 160042237
283 KCNJ10 NM_002241.4(KCNJ10): c.*3770C> T single nucleotide variant Uncertain significance rs886045394 GRCh37 Chromosome 1, 160007413: 160007413
284 KCNJ10 NM_002241.4(KCNJ10): c.*3770C> T single nucleotide variant Uncertain significance rs886045394 GRCh38 Chromosome 1, 160037623: 160037623
285 KCNJ10 NM_002241.4(KCNJ10): c.*3074C> T single nucleotide variant Uncertain significance rs181875026 GRCh37 Chromosome 1, 160008109: 160008109
286 KCNJ10 NM_002241.4(KCNJ10): c.*3074C> T single nucleotide variant Uncertain significance rs181875026 GRCh38 Chromosome 1, 160038319: 160038319
287 KCNJ10 NM_002241.4(KCNJ10): c.*2596A> G single nucleotide variant Uncertain significance rs116418256 GRCh38 Chromosome 1, 160038797: 160038797
288 KCNJ10 NM_002241.4(KCNJ10): c.*2596A> G single nucleotide variant Uncertain significance rs116418256 GRCh37 Chromosome 1, 160008587: 160008587
289 KCNJ10 NM_002241.4(KCNJ10): c.*2014_*2019delGTGTGT deletion Uncertain significance rs886045404 GRCh38 Chromosome 1, 160039374: 160039379
290 KCNJ10 NM_002241.4(KCNJ10): c.*2014_*2019delGTGTGT deletion Uncertain significance rs886045404 GRCh37 Chromosome 1, 160009164: 160009169
291 KCNJ10 NM_002241.4(KCNJ10): c.*1855T> C single nucleotide variant Uncertain significance rs886045405 GRCh38 Chromosome 1, 160039538: 160039538
292 KCNJ10 NM_002241.4(KCNJ10): c.*1855T> C single nucleotide variant Uncertain significance rs886045405 GRCh37 Chromosome 1, 160009328: 160009328
293 KCNJ10 NM_002241.4(KCNJ10): c.*1827T> C single nucleotide variant Uncertain significance rs886045406 GRCh38 Chromosome 1, 160039566: 160039566
294 KCNJ10 NM_002241.4(KCNJ10): c.*1827T> C single nucleotide variant Uncertain significance rs886045406 GRCh37 Chromosome 1, 160009356: 160009356
295 KCNJ10 NM_002241.4(KCNJ10): c.*1165G> A single nucleotide variant Uncertain significance rs886045408 GRCh38 Chromosome 1, 160040228: 160040228
296 KCNJ10 NM_002241.4(KCNJ10): c.*1165G> A single nucleotide variant Uncertain significance rs886045408 GRCh37 Chromosome 1, 160010018: 160010018
297 KCNJ10 NM_002241.4(KCNJ10): c.*362A> T single nucleotide variant Uncertain significance rs528816212 GRCh37 Chromosome 1, 160010821: 160010821
298 KCNJ10 NM_002241.4(KCNJ10): c.*362A> T single nucleotide variant Uncertain significance rs528816212 GRCh38 Chromosome 1, 160041031: 160041031
299 KCNJ10 NM_002241.4(KCNJ10): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs751338154 GRCh37 Chromosome 1, 160011200: 160011200
300 KCNJ10 NM_002241.4(KCNJ10): c.1123C> T (p.Arg375Cys) single nucleotide variant Uncertain significance rs751338154 GRCh38 Chromosome 1, 160041410: 160041410
301 FOXI1 NM_012188.4(FOXI1): c.308G> C (p.Gly103Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs370450076 GRCh38 Chromosome 5, 170106265: 170106265
302 FOXI1 NM_012188.4(FOXI1): c.308G> C (p.Gly103Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs370450076 GRCh37 Chromosome 5, 169533269: 169533269
303 FOXI1 NM_012188.4(FOXI1): c.1013C> T (p.Ala338Val) single nucleotide variant Uncertain significance rs367809742 GRCh37 Chromosome 5, 169535491: 169535491
304 FOXI1 NM_012188.4(FOXI1): c.1013C> T (p.Ala338Val) single nucleotide variant Uncertain significance rs367809742 GRCh38 Chromosome 5, 170108487: 170108487
305 FOXI1 NM_012188.4(FOXI1): c.*176G> T single nucleotide variant Uncertain significance rs151161274 GRCh37 Chromosome 5, 169535791: 169535791
306 FOXI1 NM_012188.4(FOXI1): c.*176G> T single nucleotide variant Uncertain significance rs151161274 GRCh38 Chromosome 5, 170108787: 170108787
307 FOXI1 NM_012188.4(FOXI1): c.*938dupT duplication Likely benign rs35964510 GRCh37 Chromosome 5, 169536553: 169536553
308 FOXI1 NM_012188.4(FOXI1): c.*938dupT duplication Likely benign rs35964510 GRCh38 Chromosome 5, 170109549: 170109549
309 FOXI1 NM_012188.4(FOXI1): c.-18G> A single nucleotide variant Uncertain significance rs764490860 GRCh38 Chromosome 5, 170105940: 170105940
310 FOXI1 NM_012188.4(FOXI1): c.-18G> A single nucleotide variant Uncertain significance rs764490860 GRCh37 Chromosome 5, 169532944: 169532944
311 FOXI1 NM_012188.4(FOXI1): c.279G> A (p.Arg93=) single nucleotide variant Likely benign rs2277944 GRCh38 Chromosome 5, 170106236: 170106236
312 FOXI1 NM_012188.4(FOXI1): c.279G> A (p.Arg93=) single nucleotide variant Likely benign rs2277944 GRCh37 Chromosome 5, 169533240: 169533240
313 FOXI1 NM_012188.4(FOXI1): c.318C> G (p.Asp106Glu) single nucleotide variant Uncertain significance rs114293092 GRCh38 Chromosome 5, 170106275: 170106275
314 FOXI1 NM_012188.4(FOXI1): c.318C> G (p.Asp106Glu) single nucleotide variant Uncertain significance rs114293092 GRCh37 Chromosome 5, 169533279: 169533279
315 FOXI1 NM_012188.4(FOXI1): c.568G> C (p.Asp190His) single nucleotide variant Uncertain significance rs886060398 GRCh38 Chromosome 5, 170106525: 170106525
316 FOXI1 NM_012188.4(FOXI1): c.568G> C (p.Asp190His) single nucleotide variant Uncertain significance rs886060398 GRCh37 Chromosome 5, 169533529: 169533529
317 FOXI1 NM_012188.4(FOXI1): c.861C> G (p.Ala287=) single nucleotide variant Uncertain significance rs145785746 GRCh37 Chromosome 5, 169535339: 169535339
318 FOXI1 NM_012188.4(FOXI1): c.861C> G (p.Ala287=) single nucleotide variant Uncertain significance rs145785746 GRCh38 Chromosome 5, 170108335: 170108335
319 FOXI1 NM_012188.4(FOXI1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance rs886060399 GRCh37 Chromosome 5, 169535416: 169535416
320 FOXI1 NM_012188.4(FOXI1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance rs886060399 GRCh38 Chromosome 5, 170108412: 170108412
321 FOXI1 NM_012188.4(FOXI1): c.972G> C (p.Pro324=) single nucleotide variant Uncertain significance rs56128152 GRCh37 Chromosome 5, 169535450: 169535450
322 FOXI1 NM_012188.4(FOXI1): c.972G> C (p.Pro324=) single nucleotide variant Uncertain significance rs56128152 GRCh38 Chromosome 5, 170108446: 170108446
323 FOXI1 NM_012188.4(FOXI1): c.*440G> A single nucleotide variant Benign rs6555887 GRCh37 Chromosome 5, 169536055: 169536055
324 FOXI1 NM_012188.4(FOXI1): c.*440G> A single nucleotide variant Benign rs6555887 GRCh38 Chromosome 5, 170109051: 170109051
325 FOXI1 NM_012188.4(FOXI1): c.*707C> T single nucleotide variant Uncertain significance rs886060404 GRCh37 Chromosome 5, 169536322: 169536322
326 FOXI1 NM_012188.4(FOXI1): c.*707C> T single nucleotide variant Uncertain significance rs886060404 GRCh38 Chromosome 5, 170109318: 170109318
327 SLC26A4 NM_000441.1(SLC26A4): c.-139C> T single nucleotide variant Uncertain significance rs879914861 GRCh37 Chromosome 7, 107301165: 107301165
328 SLC26A4 NM_000441.1(SLC26A4): c.-139C> T single nucleotide variant Uncertain significance rs879914861 GRCh38 Chromosome 7, 107660720: 107660720
329 SLC26A4 NM_000441.1(SLC26A4): c.2008G> A (p.Val670Ile) single nucleotide variant Uncertain significance rs201689637 GRCh37 Chromosome 7, 107342476: 107342476
330 SLC26A4 NM_000441.1(SLC26A4): c.2008G> A (p.Val670Ile) single nucleotide variant Uncertain significance rs201689637 GRCh38 Chromosome 7, 107702031: 107702031
331 SLC26A4 NM_000441.1(SLC26A4): c.*523A> G single nucleotide variant Uncertain significance rs560536749 GRCh38 Chromosome 7, 107715969: 107715969
332 SLC26A4 NM_000441.1(SLC26A4): c.*523A> G single nucleotide variant Uncertain significance rs560536749 GRCh37 Chromosome 7, 107356414: 107356414
333 SLC26A4 NM_000441.1(SLC26A4): c.*1123A> G single nucleotide variant Uncertain significance rs141341508 GRCh37 Chromosome 7, 107357014: 107357014
334 SLC26A4 NM_000441.1(SLC26A4): c.*1123A> G single nucleotide variant Uncertain significance rs141341508 GRCh38 Chromosome 7, 107716569: 107716569
335 SLC26A4 NM_000441.1(SLC26A4): c.*1200G> A single nucleotide variant Uncertain significance rs549659217 GRCh37 Chromosome 7, 107357091: 107357091
336 SLC26A4 NM_000441.1(SLC26A4): c.*1200G> A single nucleotide variant Uncertain significance rs549659217 GRCh38 Chromosome 7, 107716646: 107716646
337 SLC26A4 NM_000441.1(SLC26A4): c.*1875G> C single nucleotide variant Uncertain significance rs886061892 GRCh37 Chromosome 7, 107357766: 107357766
338 SLC26A4 NM_000441.1(SLC26A4): c.*1875G> C single nucleotide variant Uncertain significance rs886061892 GRCh38 Chromosome 7, 107717321: 107717321
339 SLC26A4 NM_000441.1(SLC26A4): c.*1960T> A single nucleotide variant Uncertain significance rs886061893 GRCh37 Chromosome 7, 107357851: 107357851
340 SLC26A4 NM_000441.1(SLC26A4): c.*1960T> A single nucleotide variant Uncertain significance rs886061893 GRCh38 Chromosome 7, 107717406: 107717406
341 SLC26A4 NM_000441.1(SLC26A4): c.*2047A> G single nucleotide variant Uncertain significance rs534409544 GRCh37 Chromosome 7, 107357938: 107357938
342 SLC26A4 NM_000441.1(SLC26A4): c.*2047A> G single nucleotide variant Uncertain significance rs534409544 GRCh38 Chromosome 7, 107717493: 107717493
343 SLC26A4 NM_000441.1(SLC26A4): c.*2250_*2251delAG deletion Uncertain significance rs886061895 GRCh37 Chromosome 7, 107358141: 107358142
344 SLC26A4 NM_000441.1(SLC26A4): c.*2250_*2251delAG deletion Uncertain significance rs886061895 GRCh38 Chromosome 7, 107717696: 107717697
345 FOXI1 NM_012188.4(FOXI1): c.965_967delTCT (p.Phe322del) deletion Uncertain significance rs886060400 GRCh37 Chromosome 5, 169535443: 169535445
346 FOXI1 NM_012188.4(FOXI1): c.965_967delTCT (p.Phe322del) deletion Uncertain significance rs886060400 GRCh38 Chromosome 5, 170108439: 170108441
347 FOXI1 NM_012188.4(FOXI1): c.1088G> T (p.Ser363Ile) single nucleotide variant Uncertain significance rs150705492 GRCh37 Chromosome 5, 169535566: 169535566
348 FOXI1 NM_012188.4(FOXI1): c.1088G> T (p.Ser363Ile) single nucleotide variant Uncertain significance rs150705492 GRCh38 Chromosome 5, 170108562: 170108562
349 FOXI1 NM_012188.4(FOXI1): c.*119C> A single nucleotide variant Likely benign rs6873124 GRCh37 Chromosome 5, 169535734: 169535734
350 FOXI1 NM_012188.4(FOXI1): c.*119C> A single nucleotide variant Likely benign rs6873124 GRCh38 Chromosome 5, 170108730: 170108730
351 FOXI1 NM_012188.4(FOXI1): c.*397A> T single nucleotide variant Uncertain significance rs886060401 GRCh37 Chromosome 5, 169536012: 169536012
352 FOXI1 NM_012188.4(FOXI1): c.*397A> T single nucleotide variant Uncertain significance rs886060401 GRCh38 Chromosome 5, 170109008: 170109008
353 FOXI1 NM_012188.4(FOXI1): c.*486C> T single nucleotide variant Uncertain significance rs886060403 GRCh37 Chromosome 5, 169536101: 169536101
354 FOXI1 NM_012188.4(FOXI1): c.*486C> T single nucleotide variant Uncertain significance rs886060403 GRCh38 Chromosome 5, 170109097: 170109097
355 FOXI1 NM_012188.4(FOXI1): c.30C> T (p.Ser10=) single nucleotide variant Uncertain significance rs137901435 GRCh38 Chromosome 5, 170105987: 170105987
356 FOXI1 NM_012188.4(FOXI1): c.30C> T (p.Ser10=) single nucleotide variant Uncertain significance rs137901435 GRCh37 Chromosome 5, 169532991: 169532991
357 FOXI1 NM_012188.4(FOXI1): c.822C> T (p.Gly274=) single nucleotide variant Uncertain significance rs149203108 GRCh37 Chromosome 5, 169535300: 169535300
358 FOXI1 NM_012188.4(FOXI1): c.822C> T (p.Gly274=) single nucleotide variant Uncertain significance rs149203108 GRCh38 Chromosome 5, 170108296: 170108296
359 FOXI1 NM_012188.4(FOXI1): c.*418T> C single nucleotide variant Uncertain significance rs886060402 GRCh37 Chromosome 5, 169536033: 169536033
360 FOXI1 NM_012188.4(FOXI1): c.*418T> C single nucleotide variant Uncertain significance rs886060402 GRCh38 Chromosome 5, 170109029: 170109029
361 FOXI1 NM_012188.4(FOXI1): c.*535A> G single nucleotide variant Likely benign rs6555888 GRCh37 Chromosome 5, 169536150: 169536150
362 FOXI1 NM_012188.4(FOXI1): c.*535A> G single nucleotide variant Likely benign rs6555888 GRCh38 Chromosome 5, 170109146: 170109146
363 FOXI1 NM_012188.4(FOXI1): c.*576T> A single nucleotide variant Uncertain significance rs550861326 GRCh37 Chromosome 5, 169536191: 169536191
364 FOXI1 NM_012188.4(FOXI1): c.*576T> A single nucleotide variant Uncertain significance rs550861326 GRCh38 Chromosome 5, 170109187: 170109187
365 FOXI1 NM_012188.4(FOXI1): c.*986G> C single nucleotide variant Uncertain significance rs111876035 GRCh37 Chromosome 5, 169536601: 169536601
366 FOXI1 NM_012188.4(FOXI1): c.*986G> C single nucleotide variant Uncertain significance rs111876035 GRCh38 Chromosome 5, 170109597: 170109597
367 SLC26A4 NM_000441.1(SLC26A4): c.-8G> A single nucleotide variant Uncertain significance rs886061882 GRCh37 Chromosome 7, 107301296: 107301296
368 SLC26A4 NM_000441.1(SLC26A4): c.-8G> A single nucleotide variant Uncertain significance rs886061882 GRCh38 Chromosome 7, 107660851: 107660851
369 SLC26A4 NM_000441.1(SLC26A4): c.601-5C> T single nucleotide variant Uncertain significance rs546450643 GRCh37 Chromosome 7, 107315385: 107315385
370 SLC26A4 NM_000441.1(SLC26A4): c.601-5C> T single nucleotide variant Uncertain significance rs546450643 GRCh38 Chromosome 7, 107674940: 107674940
371 SLC26A4 NM_000441.1(SLC26A4): c.888C> T (p.Ile296=) single nucleotide variant Uncertain significance rs765095794 GRCh37 Chromosome 7, 107323769: 107323769
372 SLC26A4 NM_000441.1(SLC26A4): c.888C> T (p.Ile296=) single nucleotide variant Uncertain significance rs765095794 GRCh38 Chromosome 7, 107683324: 107683324
373 SLC26A4 NM_000441.1(SLC26A4): c.1110A> G (p.Val370=) single nucleotide variant Uncertain significance rs886061886 GRCh37 Chromosome 7, 107329606: 107329606
374 SLC26A4 NM_000441.1(SLC26A4): c.1110A> G (p.Val370=) single nucleotide variant Uncertain significance rs886061886 GRCh38 Chromosome 7, 107689161: 107689161
375 SLC26A4 NM_000441.1(SLC26A4): c.2320-4A> G single nucleotide variant Uncertain significance rs727503432 GRCh38 Chromosome 7, 107715419: 107715419
376 SLC26A4 NM_000441.1(SLC26A4): c.2320-4A> G single nucleotide variant Uncertain significance rs727503432 GRCh37 Chromosome 7, 107355864: 107355864
377 SLC26A4 NM_000441.1(SLC26A4): c.*614C> T single nucleotide variant Uncertain significance rs77315223 GRCh38 Chromosome 7, 107716060: 107716060
378 SLC26A4 NM_000441.1(SLC26A4): c.*614C> T single nucleotide variant Uncertain significance rs77315223 GRCh37 Chromosome 7, 107356505: 107356505
379 SLC26A4 NM_000441.1(SLC26A4): c.*840C> T single nucleotide variant Uncertain significance rs886061889 GRCh37 Chromosome 7, 107356731: 107356731
380 SLC26A4 NM_000441.1(SLC26A4): c.*840C> T single nucleotide variant Uncertain significance rs886061889 GRCh38 Chromosome 7, 107716286: 107716286
381 SLC26A4 NM_000441.1(SLC26A4): c.*868G> A single nucleotide variant Likely benign rs2712218 GRCh37 Chromosome 7, 107356759: 107356759
382 SLC26A4 NM_000441.1(SLC26A4): c.*868G> A single nucleotide variant Likely benign rs2712218 GRCh38 Chromosome 7, 107716314: 107716314
383 SLC26A4 NM_000441.1(SLC26A4): c.*1277A> G single nucleotide variant Uncertain significance rs560359006 GRCh37 Chromosome 7, 107357168: 107357168
384 SLC26A4 NM_000441.1(SLC26A4): c.*1277A> G single nucleotide variant Uncertain significance rs560359006 GRCh38 Chromosome 7, 107716723: 107716723
385 SLC26A4 NM_000441.1(SLC26A4): c.*1517G> C single nucleotide variant Uncertain significance rs2712205 GRCh37 Chromosome 7, 107357408: 107357408
386 SLC26A4 NM_000441.1(SLC26A4): c.*1517G> C single nucleotide variant Uncertain significance rs2712205 GRCh38 Chromosome 7, 107716963: 107716963
387 SLC26A4 NM_000441.1(SLC26A4): c.*1610C> T single nucleotide variant Uncertain significance rs192222034 GRCh37 Chromosome 7, 107357501: 107357501
388 SLC26A4 NM_000441.1(SLC26A4): c.*1610C> T single nucleotide variant Uncertain significance rs192222034 GRCh38 Chromosome 7, 107717056: 107717056
389 SLC26A4 NM_000441.1(SLC26A4): c.*1640G> T single nucleotide variant Uncertain significance rs886061891 GRCh37 Chromosome 7, 107357531: 107357531
390 SLC26A4 NM_000441.1(SLC26A4): c.*1640G> T single nucleotide variant Uncertain significance rs886061891 GRCh38 Chromosome 7, 107717086: 107717086
391 SLC26A4 NM_000441.1(SLC26A4): c.*2147G> A single nucleotide variant Uncertain significance rs886061894 GRCh37 Chromosome 7, 107358038: 107358038
392 SLC26A4 NM_000441.1(SLC26A4): c.*2147G> A single nucleotide variant Uncertain significance rs886061894 GRCh38 Chromosome 7, 107717593: 107717593
393 SLC26A4 NM_000441.1(SLC26A4): c.-186A> G single nucleotide variant Uncertain significance rs555307083 GRCh37 Chromosome 7, 107301118: 107301118
394 SLC26A4 NM_000441.1(SLC26A4): c.-186A> G single nucleotide variant Uncertain significance rs555307083 GRCh38 Chromosome 7, 107660673: 107660673
395 SLC26A4 NM_000441.1(SLC26A4): c.371T> A (p.Ile124Asn) single nucleotide variant Uncertain significance rs886061883 GRCh37 Chromosome 7, 107312649: 107312649
396 SLC26A4 NM_000441.1(SLC26A4): c.371T> A (p.Ile124Asn) single nucleotide variant Uncertain significance rs886061883 GRCh38 Chromosome 7, 107672204: 107672204
397 SLC26A4 NM_000441.1(SLC26A4): c.1068C> T (p.Ile356=) single nucleotide variant Uncertain significance rs886061885 GRCh37 Chromosome 7, 107329564: 107329564
398 SLC26A4 NM_000441.1(SLC26A4): c.1068C> T (p.Ile356=) single nucleotide variant Uncertain significance rs886061885 GRCh38 Chromosome 7, 107689119: 107689119
399 SLC26A4 NM_000441.1(SLC26A4): c.*69C> A single nucleotide variant Uncertain significance rs76894072 GRCh37 Chromosome 7, 107355960: 107355960
400 SLC26A4 NM_000441.1(SLC26A4): c.*69C> A single nucleotide variant Uncertain significance rs76894072 GRCh38 Chromosome 7, 107715515: 107715515
401 SLC26A4 NM_000441.1(SLC26A4): c.*409A> T single nucleotide variant Uncertain significance rs752578836 GRCh38 Chromosome 7, 107715855: 107715855
402 SLC26A4 NM_000441.1(SLC26A4): c.*409A> T single nucleotide variant Uncertain significance rs752578836 GRCh37 Chromosome 7, 107356300: 107356300
403 SLC26A4 NM_000441.1(SLC26A4): c.*618A> G single nucleotide variant Uncertain significance rs886061888 GRCh38 Chromosome 7, 107716064: 107716064
404 SLC26A4 NM_000441.1(SLC26A4): c.*618A> G single nucleotide variant Uncertain significance rs886061888 GRCh37 Chromosome 7, 107356509: 107356509
405 SLC26A4 NM_000441.1(SLC26A4): c.*780T> C single nucleotide variant Uncertain significance rs527503006 GRCh38 Chromosome 7, 107716226: 107716226
406 SLC26A4 NM_000441.1(SLC26A4): c.*780T> C single nucleotide variant Uncertain significance rs527503006 GRCh37 Chromosome 7, 107356671: 107356671
407 SLC26A4 NM_000441.1(SLC26A4): c.*1059T> C single nucleotide variant Uncertain significance rs183926745 GRCh37 Chromosome 7, 107356950: 107356950
408 SLC26A4 NM_000441.1(SLC26A4): c.*1059T> C single nucleotide variant Uncertain significance rs183926745 GRCh38 Chromosome 7, 107716505: 107716505
409 SLC26A4 NM_000441.1(SLC26A4): c.*1797G> C single nucleotide variant Likely benign rs76820337 GRCh37 Chromosome 7, 107357688: 107357688
410 SLC26A4 NM_000441.1(SLC26A4): c.*1797G> C single nucleotide variant Likely benign rs76820337 GRCh38 Chromosome 7, 107717243: 107717243
411 SLC26A4 NM_000441.1(SLC26A4): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs138816005 GRCh37 Chromosome 7, 107323753: 107323753
412 SLC26A4 NM_000441.1(SLC26A4): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs138816005 GRCh38 Chromosome 7, 107683308: 107683308
413 SLC26A4 NM_000441.1(SLC26A4): c.887T> A (p.Ile296Asn) single nucleotide variant Uncertain significance rs886061884 GRCh37 Chromosome 7, 107323768: 107323768
414 SLC26A4 NM_000441.1(SLC26A4): c.887T> A (p.Ile296Asn) single nucleotide variant Uncertain significance rs886061884 GRCh38 Chromosome 7, 107683323: 107683323
415 SLC26A4 NM_000441.1(SLC26A4): c.2018T> G (p.Val673Gly) single nucleotide variant Uncertain significance rs886061887 GRCh37 Chromosome 7, 107342486: 107342486
416 SLC26A4 NM_000441.1(SLC26A4): c.2018T> G (p.Val673Gly) single nucleotide variant Uncertain significance rs886061887 GRCh38 Chromosome 7, 107702041: 107702041
417 SLC26A4 NM_000441.1(SLC26A4): c.2135A> G (p.Asn712Ser) single nucleotide variant Uncertain significance rs772522003 GRCh37 Chromosome 7, 107350544: 107350544
418 SLC26A4 NM_000441.1(SLC26A4): c.2135A> G (p.Asn712Ser) single nucleotide variant Uncertain significance rs772522003 GRCh38 Chromosome 7, 107710099: 107710099
419 SLC26A4 NM_000441.1(SLC26A4): c.*239C> T single nucleotide variant Uncertain significance rs113516368 GRCh38 Chromosome 7, 107715685: 107715685
420 SLC26A4 NM_000441.1(SLC26A4): c.*239C> T single nucleotide variant Uncertain significance rs113516368 GRCh37 Chromosome 7, 107356130: 107356130
421 SLC26A4 NM_000441.1(SLC26A4): c.*343C> A single nucleotide variant Uncertain significance rs139104953 GRCh38 Chromosome 7, 107715789: 107715789
422 SLC26A4 NM_000441.1(SLC26A4): c.*343C> A single nucleotide variant Uncertain significance rs139104953 GRCh37 Chromosome 7, 107356234: 107356234
423 SLC26A4 NM_000441.1(SLC26A4): c.*791A> G single nucleotide variant Uncertain significance rs146458433 GRCh38 Chromosome 7, 107716237: 107716237
424 SLC26A4 NM_000441.1(SLC26A4): c.*791A> G single nucleotide variant Uncertain significance rs146458433 GRCh37 Chromosome 7, 107356682: 107356682
425 SLC26A4 NM_000441.1(SLC26A4): c.*1584dupA duplication Uncertain significance rs886061890 GRCh37 Chromosome 7, 107357475: 107357475
426 SLC26A4 NM_000441.1(SLC26A4): c.*1584dupA duplication Uncertain significance rs886061890 GRCh38 Chromosome 7, 107717030: 107717030
427 SLC26A4 NM_000441.1(SLC26A4): c.55delA (p.Ser19Alafs) deletion Likely pathogenic rs1057516634 GRCh37 Chromosome 7, 107302141: 107302141
428 SLC26A4 NM_000441.1(SLC26A4): c.55delA (p.Ser19Alafs) deletion Likely pathogenic rs1057516634 GRCh38 Chromosome 7, 107661696: 107661696
429 SLC26A4 NM_000441.1(SLC26A4): c.142G> T (p.Glu48Ter) single nucleotide variant Likely pathogenic rs201636911 GRCh37 Chromosome 7, 107302228: 107302228
430 SLC26A4 NM_000441.1(SLC26A4): c.142G> T (p.Glu48Ter) single nucleotide variant Likely pathogenic rs201636911 GRCh38 Chromosome 7, 107661783: 107661783
431 SLC26A4 NM_000441.1(SLC26A4): c.249G> A (p.Trp83Ter) single nucleotide variant Pathogenic rs1057516658 GRCh37 Chromosome 7, 107303825: 107303825
432 SLC26A4 NM_000441.1(SLC26A4): c.249G> A (p.Trp83Ter) single nucleotide variant Pathogenic rs1057516658 GRCh38 Chromosome 7, 107663380: 107663380
433 SLC26A4 NM_000441.1(SLC26A4): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs1057516953 GRCh37 Chromosome 7, 107303857: 107303857
434 SLC26A4 NM_000441.1(SLC26A4): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs1057516953 GRCh38 Chromosome 7, 107663412: 107663412
435 SLC26A4 NM_000441.1(SLC26A4): c.416-1G> A single nucleotide variant Pathogenic rs1057516988 GRCh37 Chromosome 7, 107314608: 107314608
436 SLC26A4 NM_000441.1(SLC26A4): c.416-1G> A single nucleotide variant Pathogenic rs1057516988 GRCh38 Chromosome 7, 107674163: 107674163
437 SLC26A4 NM_000441.1(SLC26A4): c.600+2T> A single nucleotide variant Pathogenic rs1057516881 GRCh37 Chromosome 7, 107314795: 107314795
438 SLC26A4 NM_000441.1(SLC26A4): c.600+2T> A single nucleotide variant Pathogenic rs1057516881 GRCh38 Chromosome 7, 107674350: 107674350
439 SLC26A4 NM_000441.1(SLC26A4): c.619C> T (p.Gln207Ter) single nucleotide variant Likely pathogenic rs1057516678 GRCh37 Chromosome 7, 107315408: 107315408
440 SLC26A4 NM_000441.1(SLC26A4): c.619C> T (p.Gln207Ter) single nucleotide variant Likely pathogenic rs1057516678 GRCh38 Chromosome 7, 107674963: 107674963
441 SLC26A4 NM_000441.1(SLC26A4): c.858_865delGGAATTAA (p.Glu287Terfs) deletion Likely pathogenic rs1057517246 GRCh37 Chromosome 7, 107323739: 107323746
442 SLC26A4 NM_000441.1(SLC26A4): c.858_865delGGAATTAA (p.Glu287Terfs) deletion Likely pathogenic rs1057517246 GRCh38 Chromosome 7, 107683294: 107683301
443 SLC26A4 NM_000441.1(SLC26A4): c.916dupG (p.Val306Glyfs) duplication Likely pathogenic rs1057516303 GRCh38 Chromosome 7, 107683352: 107683352
444 SLC26A4 NM_000441.1(SLC26A4): c.916dupG (p.Val306Glyfs) duplication Likely pathogenic rs1057516303 GRCh37 Chromosome 7, 107323797: 107323797
445 SLC26A4 NM_000441.1(SLC26A4): c.918+2T> C single nucleotide variant Likely pathogenic rs912147281 GRCh38 Chromosome 7, 107683356: 107683356
446 SLC26A4 NM_000441.1(SLC26A4): c.918+2T> C single nucleotide variant Likely pathogenic rs912147281 GRCh37 Chromosome 7, 107323801: 107323801
447 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> T single nucleotide variant Likely pathogenic rs80338849 GRCh38 Chromosome 7, 107683538: 107683538
448 SLC26A4 NM_000441.1(SLC26A4): c.1001+1G> T single nucleotide variant Likely pathogenic rs80338849 GRCh37 Chromosome 7, 107323983: 107323983
449 SLC26A4 NM_000441.1(SLC26A4): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs777333979 GRCh37 Chromosome 7, 107330579: 107330579
450 SLC26A4 NM_000441.1(SLC26A4): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs777333979 GRCh38 Chromosome 7, 107690134: 107690134
451 SLC26A4 NM_000441.1(SLC26A4): c.1173C> A (p.Ser391Arg) single nucleotide variant Likely pathogenic rs1057517042 GRCh37 Chromosome 7, 107330592: 107330592
452 SLC26A4 NM_000441.1(SLC26A4): c.1173C> A (p.Ser391Arg) single nucleotide variant Likely pathogenic rs1057517042 GRCh38 Chromosome 7, 107690147: 107690147
453 SLC26A4 NM_000441.1(SLC26A4): c.1181_1183delTCT (p.Phe394del) deletion Likely pathogenic rs1057516508 GRCh37 Chromosome 7, 107330600: 107330602
454 SLC26A4 NM_000441.1(SLC26A4): c.1181_1183delTCT (p.Phe394del) deletion Likely pathogenic rs1057516508 GRCh38 Chromosome 7, 107690155: 107690157
455 SLC26A4 NM_000441.1(SLC26A4): c.1225C> T (p.Arg409Cys) single nucleotide variant Likely pathogenic rs147952620 GRCh37 Chromosome 7, 107330644: 107330644
456 SLC26A4 NM_000441.1(SLC26A4): c.1225C> T (p.Arg409Cys) single nucleotide variant Likely pathogenic rs147952620 GRCh38 Chromosome 7, 107690199: 107690199
457 SLC26A4 NM_000441.1(SLC26A4): c.1238A> G (p.Gln413Arg) single nucleotide variant Likely pathogenic rs142498437 GRCh38 Chromosome 7, 107690212: 107690212
458 SLC26A4 NM_000441.1(SLC26A4): c.1238A> G (p.Gln413Arg) single nucleotide variant Likely pathogenic rs142498437 GRCh37 Chromosome 7, 107330657: 107330657
459 SLC26A4 NM_000441.1(SLC26A4): c.1238delA (p.Gln413Argfs) deletion Likely pathogenic rs1057516354 GRCh37 Chromosome 7, 107330657: 107330657
460 SLC26A4 NM_000441.1(SLC26A4): c.1238delA (p.Gln413Argfs) deletion Likely pathogenic rs1057516354 GRCh38 Chromosome 7, 107690212: 107690212
461 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> A single nucleotide variant Likely pathogenic rs1057517000 GRCh37 Chromosome 7, 107330683: 107330683
462 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> A single nucleotide variant Likely pathogenic rs1057517000 GRCh38 Chromosome 7, 107690238: 107690238
463 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> T single nucleotide variant Likely pathogenic rs1057517000 GRCh38 Chromosome 7, 107690238: 107690238
464 SLC26A4 NM_000441.1(SLC26A4): c.1263+1G> T single nucleotide variant Likely pathogenic rs1057517000 GRCh37 Chromosome 7, 107330683: 107330683
465 SLC26A4 NM_000441.1(SLC26A4): c.1341+1G> C single nucleotide variant Pathogenic rs376653349 GRCh37 Chromosome 7, 107334926: 107334926
466 SLC26A4 NM_000441.1(SLC26A4): c.1341+1G> C single nucleotide variant Pathogenic rs376653349 GRCh38 Chromosome 7, 107694481: 107694481
467 SLC26A4 NM_000441.1(SLC26A4): c.1342-1G> T single nucleotide variant Likely pathogenic rs1057517298 GRCh38 Chromosome 7, 107694620: 107694620
468 SLC26A4 NM_000441.1(SLC26A4): c.1342-1G> T single nucleotide variant Likely pathogenic rs1057517298 GRCh37 Chromosome 7, 107335065: 107335065
469 SLC26A4 NM_000441.1(SLC26A4): c.1438-2A> G single nucleotide variant Likely pathogenic rs1057516717 GRCh38 Chromosome 7, 107695931: 107695931
470 SLC26A4 NM_000441.1(SLC26A4): c.1438-2A> G single nucleotide variant Likely pathogenic rs1057516717 GRCh37 Chromosome 7, 107336376: 107336376
471 SLC26A4 NM_000441.1(SLC26A4): c.1539_1544+6del12 deletion Likely pathogenic rs1057516535 GRCh37 Chromosome 7, 107336479: 107336490
472 SLC26A4 NM_000441.1(SLC26A4): c.1539_1544+6del12 deletion Likely pathogenic rs1057516535 GRCh38 Chromosome 7, 107696034: 107696045
473 SLC26A4 NM_000441.1(SLC26A4): c.1595G> T (p.Ser532Ile) single nucleotide variant Likely pathogenic rs1057516243 GRCh38 Chromosome 7, 107698092: 107698092
474 SLC26A4 NM_000441.1(SLC26A4): c.1595G> T (p.Ser532Ile) single nucleotide variant Likely pathogenic rs1057516243 GRCh37 Chromosome 7, 107338537: 107338537
475 SLC26A4 NM_000441.1(SLC26A4): c.1949T> A (p.Val650Asp) single nucleotide variant Likely pathogenic rs1057517161 GRCh38 Chromosome 7, 107701972: 107701972
476 SLC26A4 NM_000441.1(SLC26A4): c.1949T> A (p.Val650Asp) single nucleotide variant Likely pathogenic rs1057517161 GRCh37 Chromosome 7, 107342417: 107342417
477 SLC26A4 NM_000441.1(SLC26A4): c.1966delC (p.His656Ilefs) deletion Likely pathogenic rs1057516636 GRCh38 Chromosome 7, 107701989: 107701989
478 SLC26A4 NM_000441.1(SLC26A4): c.1966delC (p.His656Ilefs) deletion Likely pathogenic rs1057516636 GRCh37 Chromosome 7, 107342434: 107342434
479 SLC26A4 NM_000441.1(SLC26A4): c.2067delT (p.Asn689Lysfs) deletion Likely pathogenic rs1057516796 GRCh37 Chromosome 7, 107344808: 107344808
480 SLC26A4 NM_000441.1(SLC26A4): c.2067delT (p.Asn689Lysfs) deletion Likely pathogenic rs1057516796 GRCh38 Chromosome 7, 107704363: 107704363
481 SLC26A4 NM_000441.1(SLC26A4): c.2228T> A (p.Leu743Ter) single nucleotide variant Pathogenic rs1057517303 GRCh37 Chromosome 7, 107350637: 107350637
482 SLC26A4 NM_000441.1(SLC26A4): c.2228T> A (p.Leu743Ter) single nucleotide variant Pathogenic rs1057517303 GRCh38 Chromosome 7, 107710192: 107710192
483 SLC26A4 NM_000441.1(SLC26A4): c.2319+1G> A single nucleotide variant Likely pathogenic rs542079779 GRCh38 Chromosome 7, 107712623: 107712623
484 SLC26A4 NM_000441.1(SLC26A4): c.2319+1G> A single nucleotide variant Likely pathogenic rs542079779 GRCh37 Chromosome 7, 107353068: 107353068
485 SLC26A4 NM_000441.1(SLC26A4): c.1149delG (p.Glu384Asnfs) deletion Pathogenic rs1060499807 GRCh37 Chromosome 7, 107329645: 107329645
486 SLC26A4 NM_000441.1(SLC26A4): c.1149delG (p.Glu384Asnfs) deletion Pathogenic rs1060499807 GRCh38 Chromosome 7, 107689200: 107689200
487 SLC26A4 NM_000441.1(SLC26A4): c.2048T> C (p.Phe683Ser) single nucleotide variant Pathogenic rs1060499808 GRCh37 Chromosome 7, 107344789: 107344789
488 SLC26A4 NM_000441.1(SLC26A4): c.2048T> C (p.Phe683Ser) single nucleotide variant Pathogenic rs1060499808 GRCh38 Chromosome 7, 107704344: 107704344
489 SLC26A4 NM_000441.1(SLC26A4): c.(?_305)_(415_?)dup (p.(?)) duplication Likely pathogenic GRCh37 Chromosome 7, 107312583: 107312693
490 SLC26A4 NM_000441.1(SLC26A4): c.(?_305)_(415_?)dup (p.(?)) duplication Likely pathogenic GRCh38 Chromosome 7, 107672138: 107672248
491 SLC26A4 NM_000441.1(SLC26A4): c.1231G> C (p.Ala411Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 7, 107330650: 107330650
492 SLC26A4 NM_000441.1(SLC26A4): c.1231G> C (p.Ala411Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 7, 107690205: 107690205

Expression for Pendred Syndrome

Search GEO for disease gene expression data for Pendred Syndrome.

Pathways for Pendred Syndrome

Pathways related to Pendred Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 DUOX2 PAX8 SLC26A4 TG TPO
2 9.4 TG TPO

GO Terms for Pendred Syndrome

Cellular components related to Pendred Syndrome according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2
2 basolateral plasma membrane GO:0016323 9.62 AQP2 KCNJ10 SLC26A5 SLC4A1
3 apical plasma membrane GO:0016324 9.35 AQP2 DUOX2 SLC26A2 SLC26A3 SLC26A4
4 integral component of plasma membrane GO:0005887 9.32 AQP2 KCNJ10 KCNJ9 SLC26A2 SLC26A3 SLC26A4
5 membrane GO:0016020 10.15 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2
6 integral component of membrane GO:0016021 10.03 AQP2 DUOX2 GJB2 KCNJ10 KCNJ9 SLC26A2

Biological processes related to Pendred Syndrome according to GeneCards Suite gene sharing:

(showing 22, show less)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.91 KCNJ10 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
2 chloride transmembrane transport GO:1902476 9.85 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
3 anion transmembrane transport GO:0098656 9.8 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
4 sensory perception of sound GO:0007605 9.76 GJB2 SLC26A4 SLC26A5
5 chloride transport GO:0006821 9.73 SLC26A3 SLC26A8 SLC4A1
6 sulfate transport GO:0008272 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
7 anion transport GO:0006820 9.7 SLC26A3 SLC26A8 SLC4A1
8 thyroid gland development GO:0030878 9.69 DUOX2 PAX8 TG
9 hormone biosynthetic process GO:0042446 9.67 DUOX2 TG TPO
10 sulfate transmembrane transport GO:1902358 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
11 bicarbonate transport GO:0015701 9.63 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
12 excretion GO:0007588 9.61 AQP2 SLC26A3
13 inorganic anion transport GO:0015698 9.6 SLC26A4 SLC4A1
14 sperm capacitation GO:0048240 9.59 SLC26A3 SLC26A8
15 hydrogen peroxide catabolic process GO:0042744 9.58 DUOX2 TPO
16 thyroid hormone generation GO:0006590 9.57 DUOX2 TPO
17 thyroid hormone metabolic process GO:0042403 9.55 DUOX2 TG
18 iodide transport GO:0015705 9.54 SLC26A4 TG
19 regulation of intracellular pH GO:0051453 9.43 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
20 oxalate transport GO:0019532 9.02 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
21 ion transport GO:0006811 10.02 KCNJ10 KCNJ9 SLC26A2 SLC26A3 SLC26A4 SLC26A8
22 transmembrane transport GO:0055085 10 AQP2 GJB2 SLC26A2 SLC26A3 SLC26A4 SLC26A5

Molecular functions related to Pendred Syndrome according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.77 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
2 sulfate transmembrane transporter activity GO:0015116 9.72 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
3 secondary active sulfate transmembrane transporter activity GO:0008271 9.65 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
4 chloride transmembrane transporter activity GO:0015108 9.58 SLC26A3 SLC26A4 SLC4A1
5 oxalate transmembrane transporter activity GO:0019531 9.55 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8
6 inorganic anion exchanger activity GO:0005452 9.51 SLC26A3 SLC4A1
7 peroxidase activity GO:0004601 9.49 DUOX2 TPO
8 inward rectifier potassium channel activity GO:0005242 9.48 KCNJ10 KCNJ9
9 anion transmembrane transporter activity GO:0008509 9.46 SLC26A8 SLC4A1
10 G-protein activated inward rectifier potassium channel activity GO:0015467 9.43 KCNJ10 KCNJ9
11 anion:anion antiporter activity GO:0015301 9.43 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1
12 bicarbonate transmembrane transporter activity GO:0015106 9.1 SLC26A2 SLC26A3 SLC26A4 SLC26A5 SLC26A8 SLC4A1

Sources for Pendred Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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