KANSL1

KAT8 regulatory NSL complex subunit 1

Summary

This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]

Known Variants1,081 total

rsidPosition (GRCh37)AllelesClassClinVar
rs74806298817:44,107,820G/C—uncertain significance
rs15050019417:44,107,888G/C—conflicting classifications of pathogenicity
rs56724393717:44,108,825A/T—benign
rs37212513817:44,108,839C/T—likely benign
rs77419424517:44,108,840G/A—likely benign
rs251034797817:44,108,847T/C—uncertain significance
rs124119351117:44,108,848G/C—uncertain significance
rs14374689017:44,108,854C/T—likely benign
rs54254324817:44,108,855G/T—uncertain significance
rs128993539417:44,108,858C/T—uncertain significance
rs137218352517:44,108,859G/A—uncertain significance
rs76582842717:44,108,860C/T—likely benign
rs79605259817:44,108,862G/C—uncertain significance
rs251034875217:44,108,864G/A—uncertain significance
rs56071995517:44,108,865C/G—uncertain significance
rs207700481817:44,108,866T/A—likely benign
rs147059379917:44,108,868T/C—conflicting classifications of pathogenicity
rs207700516017:44,108,871C/G—conflicting classifications of pathogenicity
rs52973808217:44,108,873G/A—uncertain significance
rs140452370117:44,108,881C/A—likely benign
rs96379545417:44,108,885T/C—benign
rs75202902217:44,108,888C/T—uncertain significance
rs92245407217:44,108,889G/A—uncertain significance
rs156836486817:44,108,894T/C—likely benign
rs37090442517:44,108,896G/A—likely benign
rs127670547517:44,108,898G/A—uncertain significance
rs78160974217:44,108,900G/A—conflicting classifications of pathogenicity
rs135332705317:44,108,901G/C—uncertain significance
rs75064438317:44,108,902G/A—likely benign
rs77999952417:44,108,914C/T—likely benign
rs74924154017:44,108,915G/A—benign
rs214629986617:44,108,918G/C—uncertain significance
rs19976976617:44,108,922G/A—uncertain significance
rs74797631417:44,108,923C/A—likely benign
rs37011208417:44,108,924G/A—conflicting classifications of pathogenicity
rs100157319017:44,108,925C/T—likely benign
rs76025674617:44,108,930T/A—uncertain significance
rs76354106717:44,108,939C/T—conflicting classifications of pathogenicity
rs138075116517:44,108,940G/A—uncertain significance
rs105752099317:44,108,945G/A—likely benign
rs125992984717:44,108,964G/A—conflicting classifications of pathogenicity
rs214630058717:44,108,967G/A—conflicting classifications of pathogenicity
rs76801890617:44,108,975C/T—likely benign
rs207700943417:44,108,976G/A—uncertain significance
rs78016558917:44,108,984C/T—conflicting classifications of pathogenicity
rs207700979817:44,108,985G/C—uncertain significance
rs251035423617:44,108,988C/A—uncertain significance
rs20108387917:44,108,990T/C—likely benign
rs251035438917:44,108,991G/C—uncertain significance
rs37229949217:44,108,992T/C—likely benign
rs136371261617:44,108,993G/A—uncertain significance
rs251035468017:44,108,996T/C—uncertain significance
rs251035478617:44,108,998C/A—likely benign
rs105752365117:44,109,002T/C—conflicting classifications of pathogenicity
rs251035492517:44,109,005T/A—uncertain significance
rs103767596817:44,109,006C/T—uncertain significance
rs251035494817:44,109,009C/T—conflicting classifications of pathogenicity
rs79605259017:44,109,012A/G—conflicting classifications of pathogenicity
rs77179634717:44,109,014T/C—conflicting classifications of pathogenicity
rs74650498817:44,109,016C/G—likely benign
rs20071906517:44,109,017G/A—likely benign
rs79605258917:44,109,019C/A—uncertain significance
rs77054804517:44,109,021G/C—uncertain significance
rs77618395717:44,109,022G/C—likely benign
rs135831498017:44,109,025A/G—likely benign
rs14067009217:44,109,031C/T—likely benign
rs119471341117:44,109,032G/A—uncertain significance
rs79704504917:44,109,035——pathogenic
rs96003650017:44,109,037G/C—likely benign
rs144423907417:44,109,044G/A—likely benign
rs76242729117:44,109,050C/T—likely benign
rs134504923917:44,109,051G/A—likely benign
rs214630209617:44,109,055C/G—uncertain significance
rs76791704617:44,109,066C/A—likely benign
rs37436031517:44,109,072G/A—uncertain significance
rs214630227017:44,109,076G/A—likely benign
rs19990121717:44,109,079G/A—likely benign
rs56566571017:44,109,084G/T—likely benign
rs18621601817:44,109,087G/C—benign
rs11327736917:44,109,104T/C—benign
rs1757442517:44,109,188C/G—benign
rs11756876017:44,109,236G/A—likely benign
rs5588113417:44,109,248G/A—benign
rs20182448917:44,109,370T/C—likely benign
rs136225230217:44,109,403C/T—likely benign
rs20111736217:44,109,404G/A—likely benign
rs76529735917:44,109,421C/G—likely benign
rs120264637817:44,109,424G/T—uncertain significance
rs144609253317:44,109,425C/T—likely benign
rs251036522517:44,109,435G/A—likely benign
rs126977354417:44,109,439T/C—benign
rs251036563117:44,109,440G/A—likely benign
rs159844117417:44,109,446A/G—likely benign
rs78105692617:44,109,447C/T—conflicting classifications of pathogenicity
rs207702533517:44,109,449G/A—likely benign
rs14586319417:44,109,450G/T—uncertain significance
rs156836584417:44,109,453T/G—uncertain significance
rs207702577817:44,109,460T/C—benign
rs13849034717:44,109,465A/G—conflicting classifications of pathogenicity
rs105752273217:44,109,468T/C—likely benign

Showing 100 of 1,081 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.