KMT2D

lysine methyltransferase 2D

Summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

Known Variants4,440 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs563489548	12:49,414,522	C/A	—	likely benign
rs199798179	12:49,415,578	C/T	—	likely benign
rs2137702871	12:49,415,584	A/G	—	likely benign
rs1555184538	12:49,415,588	C/T	—	uncertain significance
rs373997525	12:49,415,596	A/G	—	likely benign
rs764043577	12:49,415,605	G/A	—	likely benign
rs757316408	12:49,415,611	C/T	—	likely benign
rs113204575	12:49,415,623	G/A	—	likely benign
rs2137702958	12:49,415,624	T/C	—	uncertain significance
rs2499022253	12:49,415,646	C/G	—	uncertain significance
rs1383821738	12:49,415,648	T/C	—	conflicting classifications of pathogenicity
rs1257427031	12:49,415,650	G/A	—	likely benign
rs1057520667	12:49,415,656	C/T	—	pathogenic
rs2499022427	12:49,415,657	T/C	—	pathogenic
rs779139301	12:49,415,659	A/C	—	conflicting classifications of pathogenicity
rs991926378	12:49,415,665	G/T	—	likely benign
rs748377429	12:49,415,667	A/G	—	likely benign
rs972001912	12:49,415,671	G/A	—	likely benign
rs12099780	12:49,415,718	G/A	—	likely benign
rs554987985	12:49,415,815	C/T	—	likely benign
rs369084808	12:49,415,819	C/T	—	likely benign
rs2137703466	12:49,415,825	C/A	—	uncertain significance
rs2137703473	12:49,415,826	C/G	—	conflicting classifications of pathogenicity
rs1942353373	12:49,415,832	T/A	—	pathogenic
rs2137703518	12:49,415,838	G/A	—	likely benign
rs752933485	12:49,415,841	G/A	—	likely benign
rs886041398	12:49,415,846	G/A	stop gained	pathogenic
rs758567660	12:49,415,848	C/T	—	conflicting classifications of pathogenicity
rs1555184609	12:49,415,849	G/A	—	conflicting classifications of pathogenicity
rs727503978	12:49,415,860	A/C	—	uncertain significance
rs2137703752	12:49,415,880	G/C	—	uncertain significance
rs2137703769	12:49,415,883	A/T	—	uncertain significance
rs757630906	12:49,415,886	T/C	—	benign
rs2137703828	12:49,415,891	C/T	—	uncertain significance
rs372675867	12:49,415,898	G/A	—	likely benign
rs2137703910	12:49,415,902	A/T	—	likely benign
rs1388523736	12:49,415,905	C/T	—	pathogenic
rs1324484135	12:49,415,907	G/A	—	likely benign
rs769312851	12:49,415,913	G/A	—	likely benign
rs759195065	12:49,415,930	T/C	—	conflicting classifications of pathogenicity
rs587783702	12:49,415,934	C/A	missense variant	pathogenic
rs793888515	12:49,415,935	C/G	—	pathogenic
rs2137704139	12:49,415,939	G/C	—	likely benign
rs376970092	12:49,415,945	G/A	—	likely benign
rs201320412	12:49,416,031	C/T	—	benign
rs587783701	12:49,416,050	C/T	—	conflicting classifications of pathogenicity
rs560355537	12:49,416,051	G/A	—	likely benign
rs1942367824	12:49,416,058	C/G	—	likely pathogenic
rs794727752	12:49,416,062	C/A	—	pathogenic
rs1555184684	12:49,416,063	C/T	—	likely pathogenic
rs587783700	12:49,416,064	T/A	missense variant	pathogenic
rs145482339	12:49,416,074	G/A	—	likely benign
rs757610867	12:49,416,083	C/T	—	benign
rs267607238	12:49,416,084	G/A	missense variant	pathogenic
rs1942369853	12:49,416,095	C/A	—	likely benign
rs2137705017	12:49,416,099	T/C	—	uncertain significance
rs2499024512	12:49,416,107	G/T	—	uncertain significance
rs267607239	12:49,416,115	G/A	stop gained	pathogenic
rs1422752351	12:49,416,133	G/A	—	pathogenic
rs2137705201	12:49,416,137	C/G	—	likely pathogenic
rs2499024618	12:49,416,138	T/G	—	likely pathogenic
rs1371341197	12:49,416,149	A/G	—	likely benign
rs2137706038	12:49,416,358	T/C	—	likely benign
rs1470571269	12:49,416,365	G/C	—	likely benign
rs751008381	12:49,416,368	C/T	—	likely benign
rs1555184777	12:49,416,371	A/G	—	pathogenic
rs1555184782	12:49,416,372	C/A	—	pathogenic
rs370674392	12:49,416,382	G/A	—	benign
rs1393519900	12:49,416,390	T/C	—	uncertain significance
rs373824252	12:49,416,397	C/T	—	benign
rs1314343736	12:49,416,399	G/A	—	uncertain significance
rs2137706291	12:49,416,401	T/C	—	uncertain significance
rs975080118	12:49,416,412	G/A	—	conflicting classifications of pathogenicity
rs398123734	12:49,416,416	C/T	—	pathogenic
rs1565753611	12:49,416,417	G/A	—	pathogenic
rs2137706502	12:49,416,430	A/G	—	likely benign
rs752476063	12:49,416,436	C/T	—	likely benign
rs2137706560	12:49,416,438	C/T	—	pathogenic
rs750717855	12:49,416,439	G/A	—	likely benign
rs1942386075	12:49,416,444	C/A	—	uncertain significance
rs2499025837	12:49,416,447	T/C	—	uncertain significance
rs760580783	12:49,416,460	T/C	—	likely benign
rs200803613	12:49,416,462	G/A	—	likely benign
rs2137706790	12:49,416,473	G/A	—	likely pathogenic
rs2137706950	12:49,416,493	G/T	—	likely benign
rs566674356	12:49,416,497	C/T	—	conflicting classifications of pathogenicity
rs771584280	12:49,416,498	G/A	—	benign
rs367672007	12:49,416,499	G/A	—	benign
rs1555184837	12:49,416,500	G/C	—	uncertain significance
rs2137707038	12:49,416,507	C/A	—	uncertain significance
rs776542344	12:49,416,514	C/T	—	likely benign
rs199547050	12:49,416,517	G/A	—	likely benign
rs886041558	12:49,416,527	C/T	stop gained	pathogenic
rs766403520	12:49,416,532	G/A	—	likely benign
rs1592099456	12:49,416,536	C/T	—	uncertain significance
rs761987042	12:49,416,537	G/A	—	likely benign
rs1942389520	12:49,416,544	C/T	—	likely benign
rs750674319	12:49,416,551	T/C	—	uncertain significance
rs1231132575	12:49,416,556	T/C	—	benign
rs2137707335	12:49,416,557	G/C	—	pathogenic

Showing 100 of 4,440 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.