AQP2

aquaporin 2

Summary

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

Known Variants323 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13820047612:50,344,521G/A—uncertain significance
rs14955367112:50,344,539G/T—uncertain significance
rs87903838012:50,344,549G/A—uncertain significance
rs56344453912:50,344,554C/T—uncertain significance
rs6262000612:50,344,555G/A—benign
rs20077776912:50,344,598C/T—uncertain significance
rs128838504312:50,344,616G/T—pathogenic
rs74833725512:50,344,622G/A—likely benign
rs77258570512:50,344,626C/T—uncertain significance
rs14800665212:50,344,627G/A—uncertain significance
rs159281451112:50,344,633T/C—uncertain significance
rs159281452412:50,344,637C/G—likely benign
rs14808513712:50,344,645G/A—uncertain significance
rs139464183512:50,344,646G/A—likely benign
rs6173302912:50,344,652G/A—likely benign
rs77514808512:50,344,655C/T—likely benign
rs254799691112:50,344,658A/G—likely benign
rs37729667612:50,344,664C/T—likely benign
rs254799692712:50,344,673A/G—likely benign
rs139330084912:50,344,675T/C—uncertain significance
rs14713609912:50,344,676C/T—likely benign
rs10489433612:50,344,677C/Gmissense variantuncertain significance
rs77908545012:50,344,682C/T—likely benign
rs20070619212:50,344,683G/A—conflicting classifications of pathogenicity
rs75866150312:50,344,691T/C—likely benign
rs37392656212:50,344,697C/T—likely benign
rs96417065012:50,344,698G/A—conflicting classifications of pathogenicity
rs13970979712:50,344,700C/T—likely benign
rs254799696312:50,344,712C/T—likely benign
rs194732400512:50,344,719C/T—pathogenic
rs76934532012:50,344,724C/T—likely benign
rs254799697212:50,344,725C/T—likely benign
rs77495223812:50,344,727G/A—likely benign
rs213714422912:50,344,730C/T—likely benign
rs254799697512:50,344,732C/G—uncertain significance
rs148115883112:50,344,740C/T—pathogenic
rs213714425112:50,344,742G/A—likely benign
rs124865505012:50,344,744T/C—uncertain significance
rs194732437012:50,344,748C/T—likely benign
rs99568480012:50,344,753C/T—likely pathogenic
rs14026286412:50,344,754G/A—conflicting classifications of pathogenicity
rs213714429312:50,344,768T/C—uncertain significance
rs14349731412:50,344,775C/G—likely benign
rs75281984012:50,344,776C/T—likely benign
rs98283763812:50,344,781A/G—likely benign
rs2893158012:50,344,783A/Cmissense variantpathogenic
rs254799701412:50,344,790G/A—likely benign
rs37084884212:50,344,793C/T—likely benign
rs254799702112:50,344,799A/T—likely benign
rs20027996812:50,344,802C/T—conflicting classifications of pathogenicity
rs10489432612:50,344,803G/Amissense variantpathogenic
rs10489433112:50,344,816A/Gmissense variantpathogenic
rs5791598112:50,344,817C/T—likely benign
rs13989394912:50,344,823C/T—likely benign
rs14965900112:50,344,824G/A—pathogenic
rs254799705112:50,344,835C/T—likely benign
rs19392249412:50,344,836T/Gmissense variantpathogenic
rs105358225812:50,344,847C/A—likely benign
rs76640561812:50,344,850C/T—likely benign
rs75376270212:50,344,853C/T—likely benign
rs76418546612:50,344,859C/T—conflicting classifications of pathogenicity
rs75177973312:50,344,860G/A—likely benign
rs78147865912:50,344,866C/T—pathogenic
rs75077622712:50,344,868A/G—likely benign
rs78054004512:50,344,871C/T—likely benign
rs76807068212:50,344,875T/G—uncertain significance
rs77846153012:50,344,880C/T—likely benign
rs77319909112:50,344,886T/C—likely benign
rs14878592312:50,344,889C/G—likely benign
rs77081069412:50,344,890C/T—pathogenic
rs254799710412:50,344,900G/A—uncertain significance
rs77673331712:50,344,901G/T—likely benign
rs194732606712:50,344,904T/C—likely benign
rs75952587712:50,344,905G/T—uncertain significance
rs137370659812:50,344,907G/A—likely benign
rs95983475412:50,344,910C/T—likely benign
rs130307620712:50,344,911G/A—pathogenic
rs10489433812:50,344,912G/Tmissense variantpathogenic
rs76200183312:50,344,916C/T—likely benign
rs20104768212:50,344,917G/A—uncertain significance
rs148741679112:50,344,920C/T—likely benign
rs1155701412:50,344,922G/A—likely benign
rs194732640112:50,344,925C/T—likely benign
rs254799712712:50,344,928T/C—likely benign
rs14394035112:50,344,937G/A—likely benign
rs77835256112:50,344,951G/A—uncertain significance
rs14425398812:50,344,952C/T—likely benign
rs37023286412:50,344,953G/A—conflicting classifications of pathogenicity
rs3540094512:50,344,955G/A—likely benign
rs6062950112:50,344,958C/T—likely benign
rs136926678012:50,344,961G/T—likely benign
rs77653771512:50,344,964T/C—likely benign
rs213714460912:50,344,970T/C—likely benign
rs74586188512:50,344,974G/A—likely pathogenic
rs374155912:50,344,976G/Asplice region variantbenign
rs77523703812:50,344,978G/T—uncertain significance
rs146824439912:50,344,985C/T—likely benign
rs89072087312:50,344,990T/A—likely benign
rs76196054312:50,344,993C/T—likely benign
rs378231912:50,345,079G/A—benign

Showing 100 of 323 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.