SLC26A2 Chromosome 5

Solute carrier family 26 member 2
245 variants 245 Health Risk

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What This Gene Does
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 26
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000155850
Associated Conditions (15)
Atelosteogenesis type II
Multiple epiphyseal dysplasia type 4
Diastrophic dysplasia
Achondrogenesis
type IB
Osteochondrodysplasia
Sulfate transporter-related osteochondrodysplasia
Connective tissue disorder
Inborn genetic diseases
SLC26A2-related disorder
Ovarian serous cystadenocarcinoma
broad bone-platyspondylic variant
3MC syndrome 2
De la Chapelle dysplasia
SLC26A2-related skeletal dysplasia
Key Variants
RS104893917
Conflicting classifications of pathogenicity
Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
Health Risk
RS114212275
Conflicting classifications of pathogenicity
Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS114569184
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS114919633
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Sulfate transporter-related osteochondrodysplasia
Health Risk
RS115111282
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Diastrophic dysplasia
Health Risk
RS115383424
Conflicting classifications of pathogenicity
Sulfate transporter-related osteochondrodysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
RS115977282
Conflicting classifications of pathogenicity
Atelosteogenesis type II, Achondrogenesis, type IB
Health Risk
RS116302615
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Sulfate transporter-related osteochondrodysplasia
Health Risk
RS116443969
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Diastrophic dysplasia
Health Risk
RS116657359
Conflicting classifications of pathogenicity
Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB
Health Risk
RS1179580843
Conflicting classifications of pathogenicity
Achondrogenesis, type IB, Atelosteogenesis type II
Health Risk
RS139051143
Conflicting classifications of pathogenicity
Diastrophic dysplasia, Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
Health Risk
All Variants (245)
RSID Category Clinical Significance Conditions
RS2480775838 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS2480776529 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS2480776863 Health Risk Likely pathogenic —
RS2480777920 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS2480777937 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS386833493 Health Risk Likely pathogenic Diastrophic dysplasia, Achondrogenesis, type IB
RS386833494 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833496 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833499 Health Risk Likely pathogenic Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS386833500 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833501 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833502 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833503 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS386833505 Health Risk Likely pathogenic Diastrophic dysplasia, Achondrogenesis, type IB
RS386833506 Health Risk Likely pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS745808884 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS759438521 Health Risk Likely pathogenic Achondrogenesis, type IB, Atelosteogenesis type II
RS769319202 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Achondrogenesis
RS769657401 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS776787689 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS781043222 Health Risk Likely pathogenic Achondrogenesis, type IB, Achondrogenesis
RS104893919 Health Risk Pathogenic Diastrophic dysplasia, Achondrogenesis, type IB
RS1057517461 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Achondrogenesis
RS1057517474 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Atelosteogenesis type II, Diastrophic dysplasia
RS1057517495 Health Risk Pathogenic Atelosteogenesis type II, Achondrogenesis, type IB
RS1057517504 Health Risk Pathogenic Achondrogenesis, type IB, Diastrophic dysplasia
RS1057517532 Health Risk Pathogenic Atelosteogenesis type II, Achondrogenesis, type IB
RS121908078 Health Risk Pathogenic De la Chapelle dysplasia, Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
RS1219390670 Health Risk Pathogenic Achondrogenesis, type IB, Atelosteogenesis type II
RS1225601391 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Osteochondrodysplasia, Multiple epiphyseal dysplasia type 4
RS1255552826 Health Risk Pathogenic Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS1290183098 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS1294262903 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS141798540 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia, Atelosteogenesis type II
RS1454706390 Health Risk Pathogenic Achondrogenesis, type IB, Atelosteogenesis type II
RS1554095296 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis, type IB
RS1561822760 Health Risk Pathogenic Multiple epiphyseal dysplasia type 4, Multiple epiphyseal dysplasia type 4
RS1755017552 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS1755018682 Health Risk Pathogenic Achondrogenesis, type IB, Atelosteogenesis type II
RS1755081510 Health Risk Pathogenic Diastrophic dysplasia, Diastrophic dysplasia
RS1755089179 Health Risk Pathogenic Atelosteogenesis type II, Diastrophic dysplasia, Achondrogenesis
RS1755093032 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113695485 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113695509 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113695568 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113695746 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113695999 Health Risk Pathogenic Achondrogenesis, type IB, Atelosteogenesis type II
RS2113698201 Health Risk Pathogenic Achondrogenesis, type IB, Multiple epiphyseal dysplasia type 4
RS2113698329 Health Risk Pathogenic Diastrophic dysplasia, Achondrogenesis, type IB
RS2113698410 Health Risk Pathogenic Achondrogenesis, type IB, Diastrophic dysplasia
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