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Recognized gene
LOXHD1
Normalized c.HGVS
c.1164C>G, c.1208C>T, c.1419C>G, c.1476G>T, c.1639C>T and 45 more
Normalized p.HGVS
p.(Ala1538Thr), p.(Ala403Val), p.(Ala679Thr), p.(Ala763Val), p.(Arg1000Trp) and 44 more
Matching records
208
PM3-positive records
20
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 |
|---|---|---|---|---|---|---|
| LOXHD1 |
NM_001384474.1:c.1828G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2825-2827delAGA
context: Confirmed in trans
|
31709873
A novel LOXHD1 variant in a Chinese couple with hearing loss.
The Journal of international medical research, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.3874C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40079965
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
JAMA ophthalmology, 2025
|
Supplementary material | |
| LOXHD1 |
NM_001384474.1:c.1759C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2438T>A; Leu813Ter; Nonsense
context: Compound heterozygous candidate
|
39767564
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Biomedicines, 2024
|
Supplementary material | |
| LOXHD1 |
NM_001384474.1:c.2575C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1228C>T; p.(Gln410Ter); p.Gln410Ter
context: Compound heterozygous candidate
|
35682719
Searching for the Molecular Basis of Partial Deafness.
International journal of molecular sciences, 2022
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1751C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5815G > A; p.D1939 N
context: Compound heterozygous candidate
|
35875410
Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.
Otolaryngology case reports, 2021
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1191G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5813G>A; p.(Arg1938His); p.Arg1938His
context: Compound heterozygous candidate
|
33484326
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Journal of neurology, 2021
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.4690C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2054G > A; c.2054G>A; p.Arg685His
context: Compound heterozygous candidate
|
33484326
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Journal of neurology, 2021
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.6322G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
32682410
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
BMC medical genetics, 2020
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.277G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1255+3A>G
context: Compound heterozygous candidate
|
32149082
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
BioMed research international, 2020
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1751C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.[5815G > A]; p.[D1939N]
context: Compound heterozygous candidate
|
31547530
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1828G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31547530
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1843C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.[3281A > G]; p.[D1094G]
context: Compound heterozygous candidate
|
31547530
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.5794C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1270 + 4A > C
context: Compound heterozygous candidate
|
31547530
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.6055G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1730T > G; c.5944C > T; L577R; +1 more
context: Compound heterozygous candidate
|
31547530
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Genes, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1751C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5815G > A
context: Compound heterozygous candidate
|
30760222
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
BMC medical genetics, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.2696G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.3834G > C; c.5934C > T
context: Compound heterozygous candidate
|
30760222
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
BMC medical genetics, 2019
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.4130G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Ala138Glu
context: Compound heterozygous candidate
|
30242206
In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.
Scientific reports, 2018
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.1751C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.5815G>A; p.D1939N
context: Confirmed in trans
|
30123251
Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss.
Neural plasticity, 2018
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.3979T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3371G>A; p.Arg1124His
context: Compound heterozygous candidate
|
27246798
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
Clinical genetics, 2016
|
Main article | |
| LOXHD1 |
NM_001384474.1:c.6659G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6107C>T; p.A2036V
context: Compound heterozygous candidate
|
26496393
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.
PloS one, 2015
|
Supplementary material | |