MARVELD2 Chromosome 5
MARVEL domain containing 2
Upload your DNA to see your personal genotypes for variants in MARVELD2.
What This Gene Does
The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
MARVEL domain containing
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000152939
Associated Conditions (10)
MARVELD2-related disorder
Autosomal recessive nonsyndromic hearing loss 49
Inborn genetic diseases
Rare genetic deafness
Hearing impairment
Hearing loss
autosomal recessive
Ear malformation
Deafness
Monogenic hearing loss
Key Variants
RS138680809
Conflicting classifications of pathogenicity
MARVELD2-related disorder, MARVELD2-related disorder
Health Risk
RS139234053
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS139854607
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS140764671
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS143318841
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143592561
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS144717803
Conflicting classifications of pathogenicity
MARVELD2-related disorder, MARVELD2-related disorder
Health Risk
RS146746360
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS147493796
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS149942219
Conflicting classifications of pathogenicity
Health Risk
RS150434290
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49
Health Risk
RS150773481
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138680809 | Health Risk | Conflicting classifications of pathogenicity | MARVELD2-related disorder, MARVELD2-related disorder |
| RS139234053 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS139854607 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder, Autosomal recessive nonsyndromic hearing loss 49 |
| RS140764671 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS143318841 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143592561 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS144717803 | Health Risk | Conflicting classifications of pathogenicity | MARVELD2-related disorder, MARVELD2-related disorder |
| RS146746360 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS147493796 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder, Autosomal recessive nonsyndromic hearing loss 49 |
| RS149942219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150434290 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS150773481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS181575833 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS202188305 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 49 |
| RS367611336 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS373638063 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS376627126 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS530892254 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS556959034 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS61736168 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS727503157 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS72773422 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS753543276 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS763062791 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS770894315 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 49, MARVELD2-related disorder, Autosomal recessive nonsyndromic hearing loss 49 |
| RS1554046316 | Health Risk | Likely pathogenic | — |
| RS2150915422 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS531073647 | Health Risk | Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49, Rare genetic deafness |
| RS748896801 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS770042200 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS772030670 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS993107184 | Health Risk | Likely pathogenic | — |
| RS1174369347 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS1336624126 | Health Risk | Pathogenic | — |
| RS144499910 | Health Risk | Pathogenic | — |
| RS1561291313 | Health Risk | Pathogenic | — |
| RS1766596437 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2150914115 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2150915254 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS2534792976 | Health Risk | Pathogenic | — |
| RS35496654 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS748539820 | Health Risk | Pathogenic | — |
| RS762352115 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49 |
| RS776953681 | Health Risk | Pathogenic | — |
| RS118203957 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 49, Ear malformation |
| RS1561299289 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS200781822 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 49, Autosomal recessive nonsyndromic hearing loss 49 |
| RS772048719 | Health Risk | Pathogenic/Likely pathogenic | Hearing impairment, Autosomal recessive nonsyndromic hearing loss 49, Monogenic hearing loss |