Gene entry
MARVELD2
MARVEL domain containing 2
- Chromosome
- 5
- Cytoband
- 5q13.2
- Variants (rsID)
- 12
MARVELD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q13.2). Its official name is “MARVEL domain containing 2”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs1185246Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
- rs139854607Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
- rs150434290Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
- rs61736168Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
- rs727503158Conflicting interpretationssingle nucleotide variantNonsyndromic Hearing Loss, Recessive
- rs72773422Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
- rs118203957Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 49|Ear malformation
- rs139908851Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 49
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.