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Recognized gene
SLC26A4
Normalized c.HGVS
c.*51T>C, c.-103T>C, c.1146C>G, c.1195T>C, c.1234G>A and 30 more
Normalized p.HGVS
p.(=), p.(Ala429Glu), p.(Ala434Asp), p.(Ala434Thr), p.(Ala584Val) and 28 more
Matching records
96
PM3-positive records
17
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| SLC26A4 |
NM_000441.2:c.-103T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.-66C>G
context: Confirmed in trans
|
30068397
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
BMC research notes, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1301C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1730T>C; p.V577A
context: Confirmed in trans
|
29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1730T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1301C>A; p.A434D
context: Confirmed in trans
|
29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.-103T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.L236P
context: Confirmed in trans
|
19204907
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Human mutation, 2009
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1301C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1730T>C; p.V577A
context: Compound heterozygous candidate
|
40121402
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Molecular medicine (Cambridge, Mass.), 2025
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1730T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1301C>A; p.A434D
context: Compound heterozygous candidate
|
40121402
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Molecular medicine (Cambridge, Mass.), 2025
|
Main article | |
| SLC26A4 |
NM_000441.2:c.445G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1370A>T; p.(Asn457Ile)
context: Compound heterozygous candidate
|
37811145
Next-generation sequencing improves precision medicine in hearing loss.
Frontiers in genetics, 2023
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1286C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.919-2 A>G
context: Compound heterozygous candidate
|
37017887
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Journal of assisted reproduction and genetics, 2023
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1262A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.284G>A; het CEVA haplotype; het CEVA haplotype; +1 more
context: Compound heterozygous candidate
|
36833263
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
Genes, 2023
|
Main article | |
| SLC26A4 |
NM_000441.2:c.2234C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1334T > G; p.(Leu445Trp)
context: Compound heterozygous candidate
|
36672845
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Genes, 2022
|
Main article | |
| SLC26A4 |
NM_000441.2:c.2059G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with CEVA haplotype
context: Confirmed in trans
|
34410491
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Human genetics, 2022
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1286C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with IVS7-2A>G
context: Compound heterozygous candidate
|
25372295
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
PloS one, 2014
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1300G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
24599119
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
Journal of human genetics, 2014
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1262A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1234G>T
context: Compound heterozygous candidate
|
23965030
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
BMC medical genetics, 2013
|
Supplementary material | |
| SLC26A4 |
NM_000441.2:c.128G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with N
context: Compound heterozygous candidate
|
23555729
Etiology and audiological outcomes at 3 years for 364 children in Australia.
PloS one, 2013
|
Supplementary material | |
| SLC26A4 |
NM_000441.2:c.236G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with N
context: Compound heterozygous candidate
|
23555729
Etiology and audiological outcomes at 3 years for 364 children in Australia.
PloS one, 2013
|
Supplementary material | |
| SLC26A4 |
NM_000441.2:c.2059G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 2000T>G; V609G
context: Compound heterozygous candidate
|
22116359
Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology, 2011
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1286C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34539567
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.
Frontiers in endocrinology, 2021
|
Main article and supplement | |
| SLC26A4 |
NM_000441.2:c.1300G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32319661
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Molecular medicine reports, 2020
|
Main article and supplement | |
| SLC26A4 |
NM_000441.2:c.1300G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32165640
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Nature communications, 2020
|
Main article | |