NAGA

alpha-N-acetylgalactosaminidase

Summary

NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

Known Variants326 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14437325322:42,454,353T/C—likely benign
rs575856622:42,454,354G/A—benign
rs192617696122:42,454,421G/T—uncertain significance
rs8031301122:42,454,469G/A—benign
rs89227891422:42,454,559G/C—uncertain significance
rs1170323322:42,454,587G/A—benign
rs86644619422:42,454,728G/A—uncertain significance
rs75037383622:42,454,782G/C—uncertain significance
rs143309084022:42,454,799T/C—uncertain significance
rs106339222:42,454,950A/G—benign
rs18558643622:42,454,972A/G—likely benign
rs88605759222:42,454,984G/A—uncertain significance
rs88605759322:42,455,031A/G—uncertain significance
rs11782600322:42,455,180A/G—benign
rs88605759422:42,455,193C/T—uncertain significance
rs6223858822:42,455,248C/T—benign
rs88605759522:42,455,357G/C—uncertain significance
rs192623946222:42,455,553A/G—uncertain significance
rs53857869922:42,455,711C/T—uncertain significance
rs14168839222:42,455,728G/A—likely benign
rs88605759622:42,456,015C/T—uncertain significance
rs19105158022:42,456,107G/C—uncertain significance
rs14286306122:42,456,113C/T—likely benign
rs15099100222:42,456,122A/G—likely benign
rs76112517922:42,456,128T/C—uncertain significance
rs1700283222:42,456,140G/A—benign
rs53181901622:42,456,176C/T—uncertain significance
rs100463069322:42,456,228G/A—uncertain significance
rs222954722:42,456,271T/G—benign
rs140296769522:42,456,286C/T—likely benign
rs156945685322:42,456,294A/T—uncertain significance
rs20158294822:42,456,310G/A—conflicting classifications of pathogenicity
rs99586925122:42,456,311A/G—uncertain significance
rs76751349622:42,456,322G/A—likely benign
rs102867466522:42,456,337C/T—likely benign
rs75271778222:42,456,347T/G—uncertain significance
rs600259022:42,456,373A/G—likely benign
rs14477108422:42,456,377C/T—uncertain significance
rs75045017722:42,456,378G/A—uncertain significance
rs86430955422:42,456,387T/C—uncertain significance
rs75528357122:42,456,408C/T—uncertain significance
rs78167042922:42,456,409G/A—likely benign
rs251905240222:42,456,415G/A—likely benign
rs37161562822:42,456,424T/C—likely benign
rs92343533722:42,456,425G/A—likely benign
rs251905243422:42,456,426G/A—likely benign
rs251905244622:42,456,427G/T—likely benign
rs37743999622:42,456,431G/T—likely benign
rs192629853222:42,456,435A/G—likely benign
rs7388790522:42,456,461G/T—benign
rs962001522:42,456,473C/G—benign
rs962001622:42,456,690G/C—benign
rs5880248722:42,456,784G/C—likely benign
rs962001722:42,456,874C/G—benign
rs75555114822:42,456,917C/T—likely benign
rs192633884122:42,456,918G/C—likely benign
rs75646785522:42,456,931A/G—likely benign
rs74553363422:42,456,934T/C—uncertain significance
rs192634115222:42,456,940A/C—likely benign
rs19998002122:42,456,944C/T—uncertain significance
rs14725307522:42,456,945C/T—uncertain significance
rs77646139922:42,456,946G/A—likely benign
rs77340778722:42,456,963C/T—uncertain significance
rs251905343122:42,456,982A/C—pathogenic
rs76641682822:42,456,983T/A—uncertain significance
rs37097586522:42,456,993C/T—uncertain significance
rs75315355922:42,456,994G/A—likely benign
rs251905348422:42,457,000G/T—pathogenic
rs77834327022:42,457,016A/G—uncertain significance
rs14456051022:42,457,020C/T—uncertain significance
rs75817111922:42,457,021G/A—likely benign
rs14785328122:42,457,036C/A—conflicting classifications of pathogenicity
rs12143453322:42,457,043C/Tmissense variantpathogenic
rs12143453022:42,457,044G/Amissense variantpathogenic
rs14035600222:42,457,046A/G—uncertain significance
rs12143452922:42,457,056C/Tmissense variantpathogenic
rs76314165122:42,457,057G/A—likely benign
rs75959569622:42,457,077C/T—likely benign
rs76751211322:42,457,078A/G—likely benign
rs251905368522:42,457,079C/T—likely benign
rs251905369422:42,457,083A/T—likely benign
rs192635602922:42,457,085G/A—likely benign
rs251905370322:42,457,087G/A—likely benign
rs37385130422:42,457,091A/C—likely benign
rs1700283322:42,458,563G/C—benign
rs1216680722:42,458,685A/G—benign
rs122433330022:42,458,815C/T—likely benign
rs148631063722:42,458,818C/T—likely benign
rs119333073022:42,458,824C/T—likely benign
rs5571542722:42,458,827G/C—benign
rs95613720322:42,458,849C/T—likely benign
rs251905629222:42,458,860A/G—likely benign
rs76085703922:42,458,863G/A—uncertain significance
rs75439620722:42,458,871T/A—uncertain significance
rs76575405322:42,458,885G/A—likely benign
rs192649003722:42,458,894C/T—likely benign
rs214683749622:42,458,906C/A—uncertain significance
rs75122046922:42,458,907A/G—uncertain significance
rs96987569222:42,458,909G/A—likely benign
rs160249251822:42,458,912C/T—likely benign

Showing 100 of 326 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.