PDZD7

PDZ domain containing 7

Summary

This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Known Variants783 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15076809110:102,768,180C/T—likely benign
rs185228772410:102,768,228G/A—uncertain significance
rs249276798110:102,768,229G/A—uncertain significance
rs7283868310:102,768,234C/T—benign
rs77270493610:102,768,235G/A—uncertain significance
rs249276809910:102,768,243G/T—uncertain significance
rs77051280410:102,768,247C/T—uncertain significance
rs53446380910:102,768,248G/A—likely benign
rs77231200810:102,768,253T/C—uncertain significance
rs119813582610:102,768,264G/A—uncertain significance
rs76291704110:102,768,281G/A—likely benign
rs185228960010:102,768,283G/A—uncertain significance
rs213399197510:102,768,296A/C—likely benign
rs155489022210:102,768,302C/T—likely benign
rs249276856610:102,768,305G/A—likely benign
rs89067139610:102,768,311C/G—uncertain significance
rs75168013110:102,768,327G/A—uncertain significance
rs120869378410:102,768,328G/C—uncertain significance
rs127304683510:102,768,335G/T—likely benign
rs118864509610:102,768,358G/A—uncertain significance
rs249276901010:102,768,362G/A—likely benign
rs74812910410:102,768,380A/G—likely benign
rs56952009510:102,768,383A/G—likely benign
rs14990483910:102,768,394G/T—uncertain significance
rs213399234210:102,768,410G/A—likely benign
rs100089389610:102,768,422G/T—likely benign
rs74982436410:102,768,423C/T—uncertain significance
rs213399240910:102,768,424C/A—uncertain significance
rs185229377410:102,768,426C/G—uncertain significance
rs134077254110:102,768,431A/G—likely benign
rs121235446510:102,768,434A/T—likely benign
rs77727845110:102,768,436G/C—uncertain significance
rs185229411710:102,768,437G/A—likely benign
rs249276951110:102,768,438G/C—uncertain significance
rs89256857710:102,768,447T/G—uncertain significance
rs139612206210:102,768,458G/C—likely benign
rs98056954010:102,768,462C/T—uncertain significance
rs56769283410:102,768,463G/A—uncertain significance
rs249276973710:102,768,464T/C—likely benign
rs133864470610:102,768,473C/T—likely benign
rs101364399310:102,768,475C/T—uncertain significance
rs123400515910:102,768,476G/A—likely benign
rs90539972210:102,768,479G/T—likely benign
rs213399263110:102,768,480A/T—uncertain significance
rs131855932710:102,768,483C/G—uncertain significance
rs213399264910:102,768,485G/A—likely benign
rs96060556210:102,768,494C/T—likely benign
rs142800801110:102,768,499T/C—uncertain significance
rs55621604910:102,768,507C/T—uncertain significance
rs77621888810:102,768,508G/A—uncertain significance
rs94066987010:102,768,509G/A—likely benign
rs97338587210:102,768,512C/T—likely benign
rs96357307510:102,768,519C/T—uncertain significance
rs74648525610:102,768,520G/A—uncertain significance
rs57448381110:102,768,528C/T—uncertain significance
rs53540798710:102,768,529G/A—uncertain significance
rs117841580210:102,768,531C/T—uncertain significance
rs105056858110:102,768,532G/A—uncertain significance
rs185229841610:102,768,537G/T—uncertain significance
rs146534487610:102,768,540T/C—uncertain significance
rs185229893410:102,768,545T/C—likely benign
rs94489704110:102,768,546G/A—uncertain significance
rs105266511710:102,768,549C/T—uncertain significance
rs89273590910:102,768,550G/A—uncertain significance
rs74551297410:102,768,554G/T—uncertain significance
rs92521126010:102,768,559T/C—uncertain significance
rs213399299810:102,768,564T/C—uncertain significance
rs18153038710:102,768,575C/T—likely benign
rs55345529410:102,768,579C/G—uncertain significance
rs105244394110:102,768,580C/G—uncertain significance
rs89243437310:102,768,581G/A—likely benign
rs122095562310:102,768,598C/T—uncertain significance
rs76951805610:102,768,599G/A—likely benign
rs213399316510:102,768,601A/G—uncertain significance
rs126515051310:102,768,610A/C—uncertain significance
rs213399317510:102,768,611G/C—likely benign
rs18424782410:102,768,616G/T—conflicting classifications of pathogenicity
rs249277120710:102,768,617G/A—likely benign
rs122504979210:102,768,987C/T—likely benign
rs249277354810:102,768,988C/A—likely benign
rs129817959310:102,768,997C/T—likely benign
rs185231342510:102,768,998T/C—likely benign
rs148820734410:102,769,009G/A—pathogenic
rs249277369610:102,769,012G/C—uncertain significance
rs213399430310:102,769,020C/T—uncertain significance
rs138185536010:102,769,027A/G—uncertain significance
rs185231423210:102,769,029G/A—uncertain significance
rs91191117710:102,769,030C/T—uncertain significance
rs55510817410:102,769,031G/A—likely benign
rs55290337610:102,769,034C/G—likely benign
rs104799433010:102,769,038C/G—uncertain significance
rs89068741810:102,769,039C/T—uncertain significance
rs57120389710:102,769,045A/G—uncertain significance
rs91406462910:102,769,050T/G—uncertain significance
rs75417402110:102,769,073C/T—likely benign
rs249277423310:102,769,075C/T—uncertain significance
rs185231594910:102,769,081A/G—uncertain significance
rs20219221910:102,769,086A/G—uncertain significance
rs93764381710:102,769,096A/C—uncertain significance
rs213399456710:102,769,101C/G—uncertain significance

Showing 100 of 783 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.