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Gene entry

SLC26A4

solute carrier family 26 member 4

Chromosome
7
Cytoband
7q22.3
Variants (rsID)
69

SLC26A4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q22.3). Its official name is “solute carrier family 26 member 4”. The reference table lists 69 variants (rsID) for this gene.

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Clinically classified variants

55 reference-table entries with clinical significance.

  • rs111033304Benignsingle nucleotide variantPendred syndrome
  • rs143708308Benignsingle nucleotide variantPendred syndrome
  • rs145467740Benignsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs36039758Benignsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033243Conflicting interpretationssingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033255Conflicting interpretationssingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033308Conflicting interpretationssingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing impairment
  • rs111033309Conflicting interpretationssingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|SLC26A4-related disorder
  • rs199588131Conflicting interpretationssingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs200511789Conflicting interpretationssingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs28939086Conflicting interpretationssingle nucleotide variantPendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4
  • rs55638457Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs727504993Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
  • rs727505080Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
  • rs111033193Likely benignsingle nucleotide variantPendred syndrome
  • rs756969021Likely benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
  • rs111033200Likely pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs111033212Likely pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|SLC26A4-related disorder
  • rs111033242Likely pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Pendred syndrome|Rare genetic deafness
  • rs111033257Likely pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033317Likely pathogenicInsertionRare genetic deafness
  • rs111033454Likely pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs111033199Pathogenicsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|Hearing impairment|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033220Pathogenicsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Rare genetic deafness|Hearing loss, autosomal recessive
  • rs111033241PathogenicDeletionRare genetic deafness|Pendred syndrome
  • rs111033244Pathogenicsingle nucleotide variantPendred syndrome|Rare genetic deafness|SLC26A4-Related Disorders|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033245Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs111033254Pathogenicsingle nucleotide variantPendred syndrome|Rare genetic deafness
  • rs111033256Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
  • rs111033302Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033303Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness
  • rs111033305Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive|Ear malformation
  • rs111033307Pathogenicsingle nucleotide variantPendred syndrome|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033311Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs111033312Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome
  • rs111033313Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Rare genetic deafness|Hearing loss, autosomal recessive
  • rs111033316Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs111033318Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033348Pathogenicsingle nucleotide variantPendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4
  • rs111033407PathogenicDuplicationRare genetic deafness|Pendred syndrome
  • rs121908362Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Rare genetic deafness|SLC26A4-Related Disorders
  • rs121908363Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Rare genetic deafness
  • rs146281367Pathogenicsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Hearing loss, autosomal recessive
  • rs147952620Pathogenicsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs397516414Pathogenicsingle nucleotide variantRare genetic deafness|SLC26A4-Related Disorders|Pendred syndrome
  • rs397516417PathogenicDeletionRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs727503430Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs80338848Pathogenicsingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|SLC26A4-Related Disorders|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 4|Hearing impairment
  • rs80338849Pathogenicsingle nucleotide variantPendred syndrome|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Autosomal recessive nonsyndromic hearing loss 4|Rare genetic deafness
  • rs876657722Pathogenicsingle nucleotide variantRare genetic deafness|Pendred syndrome
  • rs200706874Uncertain significancesingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs200712253Uncertain significancesingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|Pendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs35548413Uncertain significancesingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs397516423Uncertain significancesingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4
  • rs60284988Uncertain significancesingle nucleotide variantPendred syndrome|Autosomal recessive nonsyndromic hearing loss 4|SLC26A4-Related Disorders|Hearing impairment

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.