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Gene entry

USH2A

usherin

Chromosome
1
Cytoband
1q41
Variants (rsID)
292

USH2A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q41). Its official name is “usherin”. The reference table lists 292 variants (rsID) for this gene.

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Clinically classified variants

110 reference-table entries with clinical significance.

  • rs10779261Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs10864198Benignsingle nucleotide variantUsher syndrome type 2A
  • rs111033262Benignsingle nucleotide variantUsher syndrome type 2A
  • rs111033282Benignsingle nucleotide variantRetinitis pigmentosa|Hearing impairment|Progressive cone dystrophy (without rod involvement)|Usher syndrome type 2A|Usher syndrome
  • rs111033378Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39
  • rs111033381Benignsingle nucleotide variantUsher syndrome type 2A
  • rs111033394Benignsingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2A
  • rs11120616Benignsingle nucleotide variantUsher syndrome type 2A
  • rs11120645Benignsingle nucleotide variantUsher syndrome type 2A
  • rs111632670Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs145207584Benignsingle nucleotide variantUsher syndrome type 2A
  • rs148135241Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs149222801Benignsingle nucleotide variantUsher syndrome type 2A
  • rs1805049Benignsingle nucleotide variant
  • rs1805050Benignsingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs192115090Benignsingle nucleotide variantUsher syndrome type 2A
  • rs2797234Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41277194Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41277200Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41277210Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41277212Benignsingle nucleotide variantUsher syndrome type 2A
  • rs4129843Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41303257Benignsingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs41303285Benignsingle nucleotide variantUsher syndrome type 2A
  • rs41313732Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs439940Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs45555435Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs56013136Benignsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs56032526Benignsingle nucleotide variantUsher syndrome type 2A
  • rs56038610Benignsingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2A
  • rs56056328Benignsingle nucleotide variantUsher syndrome type 2A
  • rs6657250Benignsingle nucleotide variant
  • rs6665799Benignsingle nucleotide variantUsher syndrome type 2A
  • rs75698489Benignsingle nucleotide variantUsher syndrome type 2A
  • rs111033481Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs111033525Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs111033529Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs112120466Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Usher syndrome type 2A
  • rs114116572Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs115403785Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs140080678Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs140895792Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39|Childhood onset hearing loss
  • rs142381713Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39
  • rs142786231Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs145468090Conflicting interpretationssingle nucleotide variant
  • rs145718407Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs146445078Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs146462407Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs146916397Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs147560504Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs147947402Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs148000219Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs148033154Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Retinitis pigmentosa 39|Childhood onset hearing loss
  • rs148447919Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs150807452Conflicting interpretationssingle nucleotide variant
  • rs151177516Conflicting interpretationssingle nucleotide variant
  • rs200276882Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A|Retinitis pigmentosa 39|Usher syndrome type 2A
  • rs200940197Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs201857884Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa|Retinal dystrophy
  • rs35818432Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A|Retinitis pigmentosa 39
  • rs368049814Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy|Usher syndrome
  • rs397517963Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs397518040Conflicting interpretationssingle nucleotide variant
  • rs41302239Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Retinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2A|Retinitis pigmentosa 39
  • rs41303255Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A|Retinal dystrophy
  • rs41303287Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Progressive cone dystrophy (without rod involvement)|Usher syndrome type 2A
  • rs45500891Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa|Usher syndrome type 2A
  • rs55961436Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs56136489Conflicting interpretationssingle nucleotide variantUsher syndrome type 2A
  • rs727505097Conflicting interpretationssingle nucleotide variant
  • rs111033382Likely pathogenicsingle nucleotide variantRare genetic deafness
  • rs121912599Likely pathogenicsingle nucleotide variantUsher syndrome type 2A|Rare genetic deafness|Usher syndrome|Retinal dystrophy
  • rs80338904Likely pathogenicsingle nucleotide variantRetinitis pigmentosa 39|Retinitis pigmentosa
  • rs111033264Pathogenicsingle nucleotide variantUsher syndrome type 2A|Usher syndrome|Retinitis pigmentosa 39|Usher syndrome type 2A|Rare genetic deafness|Retinal dystrophy|Retinitis pigmentosa 39|See cases
  • rs111033265Pathogenicsingle nucleotide variantRare genetic deafness|Retinal dystrophy
  • rs111033272Pathogenicsingle nucleotide variantUsher syndrome type 2A|Pigmentary retinopathy|Abnormal macular morphology|Blindness|Retinal pigment epithelial atrophy|Rod-cone dystrophy|Retinitis pigmentosa 39|Usher syndrome type 2A|Rare genetic deafness|Retinitis pigmentosa 39|Retinal dystrophy|Usher syndrome type 2
  • rs111033273Pathogenicsingle nucleotide variantRare genetic deafness|Retinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|Retinal dystrophy
  • rs111033280Pathogenicsingle nucleotide variantUsher syndrome|Retinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2|Retinal dystrophy|Usher syndrome type 2A
  • rs111033334Pathogenicsingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Rare genetic deafness|Usher syndrome type 2
  • rs111033364Pathogenicsingle nucleotide variantUsher syndrome type 2A|Congenital sensorineural hearing impairment|Retinitis pigmentosa 39|Hearing impairment|Retinitis pigmentosa|Rare genetic deafness|Usher syndrome|Usher syndrome type 2|Retinal dystrophy|Rod-cone dystrophy|USH2A-Related Disorders
  • rs111033385Pathogenicsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39|Rare genetic deafness
  • rs111033386Pathogenicsingle nucleotide variantRare genetic deafness|Retinal dystrophy|Usher syndrome type 2A
  • rs111033414Pathogenicsingle nucleotide variantRare genetic deafness
  • rs111033417Pathogenicsingle nucleotide variantRare genetic deafness|Retinal dystrophy
  • rs111033418Pathogenicsingle nucleotide variantRare genetic deafness|Retinitis pigmentosa 39|Usher syndrome type 2A
  • rs111033526Pathogenicsingle nucleotide variantRare genetic deafness
  • rs121912600Pathogenicsingle nucleotide variantUsher syndrome type 2A|Usher syndrome|USH2A-Related Disorders|Rare genetic deafness|Retinitis pigmentosa 39|Retinal dystrophy
  • rs146733615Pathogenicsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39|Rare genetic deafness|Retinal dystrophy
  • rs148660051Pathogenicsingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy|Usher syndrome
  • rs369522997Pathogenicsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa 39|Usher syndrome|Rare genetic deafness|Retinal dystrophy|Retinitis pigmentosa
  • rs372347027Pathogenicsingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome|Retinal dystrophy|Retinitis pigmentosa|Usher syndrome type 2A
  • rs375668376Pathogenicsingle nucleotide variantRare genetic deafness|Usher syndrome|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs397517964PathogenicDeletionRare genetic deafness|Retinitis pigmentosa 39
  • rs398124618PathogenicMicrosatelliteRetinitis pigmentosa 39|Retinal dystrophy|Usher syndrome type 2A
  • rs41308425Pathogenicsingle nucleotide variantRare genetic deafness|Usher syndrome type 2A|Retinitis pigmentosa 39
  • rs483353056Pathogenicsingle nucleotide variantUsher syndrome type 2A
  • rs527236137Pathogenicsingle nucleotide variantUsher syndrome type 2A|Rare genetic deafness|Retinitis pigmentosa 39|Retinal dystrophy
  • rs527236139Pathogenicsingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs727503731PathogenicDuplicationRare genetic deafness|Retinitis pigmentosa|Usher syndrome|Usher syndrome type 2A|Retinitis pigmentosa 39|Retinal dystrophy
  • rs73090721Pathogenicsingle nucleotide variantRare genetic deafness|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy|Usher syndrome type 2A|Usher syndrome
  • rs773539640PathogenicDeletionRetinitis pigmentosa 39|Retinal dystrophy|Usher syndrome type 2A
  • rs80338902Pathogenicsingle nucleotide variantRetinitis pigmentosa 39|Retinitis pigmentosa|Usher syndrome type 2A|USH2A-Related Disorders|Retinal dystrophy|Usher syndrome|Inborn genetic diseases|Autosomal recessive retinitis pigmentosa|Retinitis pigmentosa 39|Usher syndrome type 2A|Ear malformation|See cases
  • rs80338903PathogenicDeletionUsher syndrome type 2A|Retinitis pigmentosa|Retinitis pigmentosa 39|Retinal dystrophy|Usher syndrome|Inborn genetic diseases|13 conditions|Macular dystrophy|Cone-rod dystrophy|Congenital stationary night blindness|Rare genetic deafness|Usher syndrome|USH2A-Related Disorders
  • rs876657731Pathogenicsingle nucleotide variantRare genetic deafness|Usher syndrome type 2|Usher syndrome type 2A|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Usher syndrome|Retinitis pigmentosa 39|Retinitis pigmentosa
  • rs886039450PathogenicDeletionUsher syndrome|Retinitis pigmentosa 39|Usher syndrome type 2A|Retinal dystrophy
  • rs111033410Uncertain significancesingle nucleotide variantUsher syndrome type 2A
  • rs143275144Uncertain significancesingle nucleotide variantRetinal dystrophy|Usher syndrome type 2A|Hearing impairment
  • rs147333637Uncertain significancesingle nucleotide variantUsher syndrome type 2A
  • rs150822759Uncertain significancesingle nucleotide variantUsher syndrome type 2A|Retinitis pigmentosa
  • rs192524347Uncertain significancesingle nucleotide variantRetinitis pigmentosa 39|Usher syndrome type 2A|Usher syndrome type 2A

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.