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Variant Pathogenicity
MARVELD2
Name
MARVELD2
HGNC ID
HGNC:26401
Cytogenetic Location
5q13.2
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
Triplosensitivity
No Evidence
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ClinVar Variants
MARVELD2
-
nonsyndromic genetic deafness
| MONDO:0019497
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
08/29/2018
View report
MARVELD2
-
autosomal recessive nonsyndromic deafness 49
| MONDO:0012420
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
MARVELD2
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
Gene Dosage Sensitivity
No Evidence for Triplosensitivity
10/16/2018
View report
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