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Recognized gene
MYO15A
Normalized c.HGVS
c.10556G>A, c.10575C>G, c.1210G>A, c.1261C>T, c.1374C>G and 45 more
Normalized p.HGVS
p.(Ala124Thr), p.(Ala1556Thr), p.(Ala635Pro), p.(Arg1106Trp), p.(Arg1120Cys) and 44 more
Matching records
155
PM3-positive records
12
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 |
|---|---|---|---|---|---|---|
| MYO15A |
NM_016239.4:c.6728C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5603G > A; p.Arg1868His
context: Compound heterozygous candidate
|
40998904
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.
Scientific reports, 2025
|
Main article | |
| MYO15A |
NM_016239.4:c.2597C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5965-8C > T
context: Compound heterozygous candidate
|
36401330
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC medical genomics, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.3844C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6764+2 T > A
context: Compound heterozygous candidate
|
36401330
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC medical genomics, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.4666G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6177+1G > T
context: Compound heterozygous candidate
|
36401330
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
BMC medical genomics, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.9067C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with NM_016239.3:c.8183G>A; NM_016239.3:c.8296C>G; NP_057323.3:p.Arg2728His; +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 | |
| MYO15A |
NM_016239.4:c.1261C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1179insC; p.Glu396Argfs*36
context: Compound heterozygous candidate
|
35346193
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
BMC medical genomics, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.4430G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4198G > A; p.Val1400Met
context: Compound heterozygous candidate
|
35346193
Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
BMC medical genomics, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.5777G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4888C>T; Arg1630Cys
context: Compound heterozygous candidate
|
34837038
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG, 2022
|
Main article | |
| MYO15A |
NM_016239.4:c.3646C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8261C>T; p.Thr2754Met
context: Compound heterozygous candidate
|
34753855
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear and hearing, 2022
|
Supplementary material | |
| MYO15A |
NM_016239.4:c.4666G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6177 + 1G > T; Splice site
context: Compound heterozygous candidate
|
30953472
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
BMC medical genetics, 2019
|
Main article | |
| MYO15A |
NM_016239.4:c.8771G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6796G > A; p.Val2266Met
context: Compound heterozygous candidate
|
30953472
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
BMC medical genetics, 2019
|
Main article | |
| MYO15A |
NM_016239.4:c.9593T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29048421
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
|
Supplementary material | |
| MYO15A |
NM_016239.4:c.823G>A
|
Other Patient-Level Evidence
Low confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36743950
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
PeerJ, 2023
|
Main article and supplement | |
| MYO15A |
NM_016239.4:c.5557C>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35711932
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Frontiers in genetics, 2022
|
Main article and supplement | |
| MYO15A |
NM_016239.4:c.8281G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34753855
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Ear and hearing, 2022
|
Supplementary material | |
| MYO15A |
NM_016239.4:c.1688G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41026541
Carboxypeptidase D deficiency causes hearing loss amenable to treatment.
The Journal of clinical investigation, 2025
|
Main article | |
| MYO15A |
NM_016239.4:c.1585C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40682330
Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.
Molecular genetics & genomic medicine, 2025
|
Main article | |
| MYO15A |
NM_016239.4:c.5380C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39467922
Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.
Journal of molecular neuroscience : MN, 2024
|
Main article | |
| MYO15A |
NM_016239.4:c.4534G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38049664
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance.
Nature genetics, 2024
|
Main article | |
| MYO15A |
NM_016239.4:c.9328C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38049664
The role of APOBEC3B in lung tumor evolution and targeted cancer therapy resistance.
Nature genetics, 2024
|
Main article | |