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Recognized gene
CDH23
Normalized c.HGVS
c.10024G>A, c.1235G>A, c.1276C>T, c.1504G>A, c.1621G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1425Val), p.(Ala1898Thr), p.(Ala2753Thr), p.(Ala3327Thr) and 45 more
Matching records
608
PM3-positive records
55
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 |
|---|---|---|---|---|---|---|
| CDH23 |
NM_022124.6:c.5168G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.264G>A; p.Trp88Ter
context: Confirmed in trans
|
39596651
Segregation of Trans Mutations in the CDH23 Gene in an Emirati Family with Sensorineural Hearing Loss.
Genes, 2024
|
Main article | |
| CDH23 |
NM_022124.6:c.3178C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4780C>G; p.(Arg1594Gly)
context: Confirmed in trans
|
37811145
Next-generation sequencing improves precision medicine in hearing loss.
Frontiers in genetics, 2023
|
Main article | |
| CDH23 |
NM_022124.6:c.902G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with p.P240L
context: Confirmed in trans
|
22443853
Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS).
Acta oto-laryngologica, 2012
|
Main article | |
| CDH23 |
NM_022124.6:c.10018C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41359850
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Proceedings of the National Academy of Sciences of the United States of America, 2025
|
Main article | |
| CDH23 |
NM_022124.6:c.4103C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.G539D; p.N1845S; p.N2287K; +2 more
context: Compound heterozygous candidate
|
41359850
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Proceedings of the National Academy of Sciences of the United States of America, 2025
|
Main article | |
| CDH23 |
NM_022124.6:c.902G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.P240L
context: Compound heterozygous candidate
|
41359850
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Proceedings of the National Academy of Sciences of the United States of America, 2025
|
Main article | |
| CDH23 |
NM_022124.6:c.6614C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38844983
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
Human genomics, 2024
|
Main article | |
| CDH23 |
NM_022124.6:c.4853C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38790200
Comprehensive Genetic Evaluation in Patients with Special Reference to Late-Onset Sensorineural Hearing Loss.
Genes, 2024
|
Main article | |
| CDH23 |
NM_022124.6:c.902G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.719C > T; p.P240L
context: Compound heterozygous candidate
|
38720048
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Scientific reports, 2024
|
Main article | |
| CDH23 |
NM_022124.6:c.1515-12G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4562 A > G; p.N1521S
context: Compound heterozygous candidate
|
37575969
cdh23 affects congenital hearing loss through regulating purine metabolism.
Frontiers in molecular neuroscience, 2023
|
Main article | |
| CDH23 |
NM_022124.6:c.4825G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
37492102
The genetics of autism spectrum disorder in an East African familial cohort.
Cell genomics, 2023
|
Supplementary material | |
| CDH23 |
NM_022124.6:c.8648A>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Arg2795Ter
context: Compound heterozygous candidate
|
37086329
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human genetics, 2023
|
Main article | |
| CDH23 |
NM_022124.6:c.2159G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4762C>T; p.Arg1588Trp
context: Compound heterozygous candidate
|
36468022
Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.
Frontiers in genetics, 2022
|
Main article | |
| CDH23 |
NM_022124.6:c.995C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2159G>A; c.4762C>T; c.5534A>G; +7 more
context: Compound heterozygous candidate
|
36468022
Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.
Frontiers in genetics, 2022
|
Main article | |
| CDH23 |
NM_022124.6:c.4004T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with NM_022124.5:c.287A>T; NM_022124.5:c.7923T>A; p.Asp2641Glu; +1 more
context: Compound heterozygous candidate
|
35864128
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Scientific reports, 2022
|
Supplementary material | |
| CDH23 |
NM_022124.6:c.7807G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with NM_022124.5:c.5985C>A; NP_071407:p.Tyr1995*
context: Compound heterozygous candidate
|
35864128
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Scientific reports, 2022
|
Supplementary material | |
| CDH23 |
NM_022124.6:c.1606C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.8371delC
context: Confirmed in trans
|
35846127
Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.
Frontiers in genetics, 2022
|
Main article | |
| CDH23 |
NM_022124.6:c.2864G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2005C>T; p.(Pro669Ser); p.Pro669Ser
context: Compound heterozygous candidate
|
35682719
Searching for the Molecular Basis of Partial Deafness.
International journal of molecular sciences, 2022
|
Main article | |
| CDH23 |
NM_022124.6:c.8257G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7630T>G; p. Leu2544Val
context: Compound heterozygous candidate
|
35578334
Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.
BMC medical genomics, 2022
|
Supplementary material | |
| CDH23 |
NM_022124.6:c.7465C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R1588W; Y2301H
context: Compound heterozygous candidate
|
35020051
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Human genetics, 2022
|
Main article | |