Gene entry
SLC26A2
solute carrier family 26 member 2
- Chromosome
- 5
- Cytoband
- 5q32
- Variants (rsID)
- 18
SLC26A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q32). Its official name is “solute carrier family 26 member 2”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs78676079Benignsingle nucleotide variantDiastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Atelosteogenesis type II|Osteochondrodysplasia|Achondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Connective tissue disorder
- rs104893918Conflicting interpretationssingle nucleotide variantAtelosteogenesis type II|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB
- rs116302615Conflicting interpretationssingle nucleotide variantAchondrogenesis, type IB|Osteochondrodysplasia|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Atelosteogenesis type II|Connective tissue disorder
- rs386833497Conflicting interpretationsDeletionDiastrophic dysplasia|Multiple epiphyseal dysplasia type 4|SLC26A2-Related Disorders|Achondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB
- rs104893916Likely pathogenicsingle nucleotide variantAchondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4
- rs104893915Pathogenicsingle nucleotide variantAtelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|SLC26A2-Related Disorders|Osteochondrodysplasia|Inborn genetic diseases|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Achondrogenesis, type IB|Diastrophic dysplasia|Achondrogenesis, type IB|3MC syndrome 2|Connective tissue disorder
- rs104893919Pathogenicsingle nucleotide variantDiastrophic dysplasia|Achondrogenesis, type IB|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Osteochondrodysplasia|Achondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|SLC26A2-Related Disorders|3MC syndrome 2
- rs104893924Pathogenicsingle nucleotide variantMultiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Achondrogenesis, type IB|Atelosteogenesis type II|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Achondrogenesis, type IB|Diastrophic dysplasia|Osteochondrodysplasia|3MC syndrome 2|SLC26A2-Related Disorders|Connective tissue disorder
- rs121908078Pathogenicsingle nucleotide variantde la Chapelle dysplasia|Diastrophic dysplasia
- rs386833492Pathogenicsingle nucleotide variantDiastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Osteochondrodysplasia|SLC26A2-Related Disorders|Atelosteogenesis type II|3MC syndrome 2|Achondrogenesis, type IB
- rs114260147Uncertain significancesingle nucleotide variantAchondrogenesis, type IB|Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Osteochondrodysplasia|Atelosteogenesis type II|Achondrogenesis, type IB
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.