Gene entry
CDH23
cadherin related 23
- Chromosome
- 10
- Cytoband
- 10q22.1
- Variants (rsID)
- 273
CDH23 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q22.1). Its official name is “cadherin related 23”. The reference table lists 273 variants (rsID) for this gene.
Clinically classified variants
114 reference-table entries with clinical significance.
- rs10823829Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs10999947Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs10999978Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs111033289Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs116624130Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs1227051Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Retinitis pigmentosa-deafness syndrome|Usher syndrome type 1D|Usher syndrome type 1
- rs1227065Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Retinitis pigmentosa-deafness syndrome|Usher syndrome type 1D|Usher syndrome type 1
- rs140463385Benignsingle nucleotide variantAtypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs143993990Benignsingle nucleotide variant
- rs181255269Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Retinitis pigmentosa|Retinitis pigmentosa-deafness syndrome|Non-Syndromic Hereditary Hearing Impairment|Nonsyndromic genetic hearing loss|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs188966938Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs2394839Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs3752752Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs3802711Benignsingle nucleotide variantRetinitis pigmentosa-deafness syndrome|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs3802719Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs397517328Benignsingle nucleotide variantRetinitis pigmentosa|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs41281314Benignsingle nucleotide variantUsher syndrome type 1D|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome
- rs41281316Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs41281330Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs41281334Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs45583140Benignsingle nucleotide variantEncephalopathy due to prosaposin deficiency|Nonsyndromic Hearing Loss, Recessive|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|Retinitis pigmentosa-deafness syndrome|Atypical Gaucher Disease|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs56181447Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs61732490Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs62622410Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs7068810Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs7903502Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs79271090Benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs111033271Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 2A|Usher syndrome type 1
- rs111033288Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs111033369Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs111033457Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs111033458Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs111033461Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs111033483Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs111033487Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs111033490Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs111033493Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs111033522Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs111583276Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs114745089Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|CDH23-Related Disorders|Usher syndrome type 1
- rs114827737Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs117317626Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs139287714Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs139409005Conflicting interpretationssingle nucleotide variant
- rs142131750Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs142857685Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs143136329Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs143179070Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1|Childhood onset hearing loss
- rs143282422Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Nonsyndromic genetic hearing loss|Usher syndrome type 1
- rs144906721Conflicting interpretationssingle nucleotide variantMetachromatic leukodystrophy|Galactosylceramide beta-galactosidase deficiency|Atypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs148475933Conflicting interpretationssingle nucleotide variantAtypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Galactosylceramide beta-galactosidase deficiency|Metachromatic leukodystrophy|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs150894638Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs181275139Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs185105210Conflicting interpretationssingle nucleotide variant
- rs185917383Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs186394654Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs186866326Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs188098974Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs191021194Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs191534381Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs199894395Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|CDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs200542052Conflicting interpretationssingle nucleotide variantRetinal dystrophy|Usher syndrome type 1
- rs201024982Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs201475055Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs201733315Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs202052174Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Retinitis pigmentosa-deafness syndrome|Neurodevelopmental abnormality|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs367928867Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs369946986Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs370983472Conflicting interpretationssingle nucleotide variantRare genetic deafness|Usher syndrome type 1|Usher syndrome type 1D
- rs371932558Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs373457993Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs373631099Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs373768157Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs374549358Conflicting interpretationssingle nucleotide variant
- rs376560330Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs377118941Conflicting interpretationssingle nucleotide variantNonsyndromic Hearing Loss, Recessive|Atypical Gaucher Disease|Encephalopathy due to prosaposin deficiency|Retinitis pigmentosa-deafness syndrome|Metachromatic leukodystrophy|CDH23-Related Disorders|Galactosylceramide beta-galactosidase deficiency|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs397517309Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs397517310Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|CDH23-Related Disorders|Usher syndrome type 1
- rs397517321Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|CDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12
- rs397517334Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs397517340Conflicting interpretationssingle nucleotide variantInborn genetic diseases|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs41281338Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs537971045Conflicting interpretationssingle nucleotide variantUsher syndrome type 1
- rs56043301Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs56107171Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs56216952Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs565266663Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs568741210Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Usher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs760922529Conflicting interpretationssingle nucleotide variantCDH23-Related Disorders|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs766541944Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs79805606Conflicting interpretationssingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs145868749Likely benignsingle nucleotide variant
- rs148149598Likely benignsingle nucleotide variant
- rs181611778Likely benignsingle nucleotide variantUsher syndrome|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D
- rs3802707Likely benignsingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs79705488Likely benignsingle nucleotide variantUsher syndrome type 1
- rs111033473Likely pathogenicDeletionRare genetic deafness
- rs111033270Pathogenicsingle nucleotide variantUsher syndrome type 1D|CDH23-Related Disorders|Pituitary adenoma 5, multiple types|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Rare genetic deafness|Retinal dystrophy|Usher syndrome type 1|Childhood onset hearing loss|Usher syndrome|Autosomal recessive nonsyndromic hearing loss 12
- rs121908351Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs367928692Pathogenicsingle nucleotide variantRare genetic deafness|Pituitary adenoma 5, multiple types|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1|Hearing loss, autosomal recessive
- rs397517327Pathogenicsingle nucleotide variantRare genetic deafness
- rs397517329Pathogenicsingle nucleotide variantRare genetic deafness|Usher syndrome type 1D|Pituitary adenoma 5, multiple types|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs796051861PathogenicDeletionUsher syndrome type 1D|USHER SYNDROME, TYPE ID/F, DIGENIC|Usher syndrome type 1
- rs121908353Uncertain significancesingle nucleotide variantUSHER SYNDROME, TYPE ID/F, DIGENIC|Usher syndrome type 1|Usher syndrome
- rs121908355Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Nonsyndromic genetic hearing loss
- rs140884994Uncertain significancesingle nucleotide variantInborn genetic diseases|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Pituitary adenoma 5, multiple types|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 12
- rs143782870Uncertain significancesingle nucleotide variantUsher syndrome type 1
- rs183046743Uncertain significancesingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1
- rs188078418Uncertain significancesingle nucleotide variantUsher syndrome type 1D|Autosomal recessive nonsyndromic hearing loss 12
- rs189361642Uncertain significancesingle nucleotide variantUsher syndrome type 1
- rs200328570Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Usher syndrome type 1D|Usher syndrome type 1
- rs201536811Uncertain significancesingle nucleotide variantUsher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 12
- rs763721044Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12
- rs876657756Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 12|Nonsyndromic genetic hearing loss
Other listed variants
- rs719385
- rs719386
- rs875861
- rs877783
- rs1227043
- rs1227046
- rs1227061
- rs1227091
- rs1227095
- rs1340362
- rs1417207
- rs1612048
- rs1665624
- rs1665692
- rs1868006
- rs2121534
- rs2166631
- rs2185415
- rs2305210
- rs2394795
- rs2394806
- rs2394828
- rs2394840
- rs2441788
- rs3747857
- rs3747858
- rs3747859
- rs3861029
- rs3861030
- rs3861031
- rs3998531
- rs4491141
- rs4492735
- rs4746085
- rs4747169
- rs6480534
- rs7082381
- rs7082486
- rs7084874
- rs7087853
- rs7093128
- rs7100757
- rs7893501
- rs7893748
- rs7901112
- rs7901462
- rs7903630
- rs7906511
- rs7909560
- rs9415036
- rs9415996
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.