Entrez Gene ID	8085
Official Gene Symbol	KMT2D (GeneCards)
Full name	lysine methyltransferase 2D
Location	12q13.12
Other ids	Vega : OTTHUMG00000166524 MIM : 602113 HGNC : HGNC:7133 Ensembl : ENSG00000167548
Other names	ALR, KMS, MLL2, MLL4, AAD10, KABUK1, TNRC21, CAGL114
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]

Variants

Found 107 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
105	8085	MLL2	12	49432664	49432676	Kabuki syndrome1	Sanger
106	8085	MLL2	12	49431645	49431645	Kabuki syndrome1	Sanger Pyrosequencing
29301	8085	KMT2D	12	49433800	49433800	Autism Spectrum Disorders	Sanger Pyrosequencing PASM
29660	8085	KMT2D	12	49415648	49415648	Autism Spectrum Disorders	Sanger Pyrosequencing PASM MiSeq
29858	8085	KMT2D	12	49433800	49433800	Autism Spectrum Disorders	Sanger Pyrosequencing PASM MiSeq NextSeq500
30835	8085	MLL2	12	49434468	49434468	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30836	8085	MLL2	12	49445131	49445131	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30837	8085	MLL2	12	49420844	49420844	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30838	8085	MLL2	12	49431785	49431785	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30839	8085	MLL2	12	49434005	49434005	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30840	8085	MLL2	12	49438079	49438079	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30841	8085	MLL2	12	49442965	49442965	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30842	8085	MLL2	12	49420326	49420326	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30843	8085	MLL2	12	49416462	49416463	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30844	8085	MLL2	12	49438188	49438189	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30845	8085	MLL2	12	49445634	49445635	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30846	8085	MLL2	12	49434711	49434711	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30847	8085	MLL2	12	49436873	49436873	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30848	8085	MLL2	12	49444788	49444789	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30849	8085	MLL2	12	49431002	49431002	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30850	8085	MLL2	12	49434018	49434018	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30851	8085	MLL2	12	49421895	49421895	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30852	8085	MLL2	12	49443922	49443922	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
30853	8085	MLL2	12	49431453	49431453	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32029	8085	MLL2	12	49428414	49428415	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32030	8085	MLL2	12	49418660	49418661	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32031	8085	MLL2	12	49444543	49444543	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32032	8085	MLL2	12	49437723	49437723	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32033	8085	MLL2	12	49427047	49427047	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32034	8085	MLL2	12	49432709	49432709	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32035	8085	MLL2	12	49420574	49420574	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32036	8085	MLL2	12	49447106	49447106	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32037	8085	MLL2	12	49416638	49416638	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32038	8085	MLL2	12	49422895	49422896	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32039	8085	MLL2	12	49422879	49422879	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32040	8085	MLL2	12	49444935	49444935	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32041	8085	MLL2	12	49420277	49420277	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32042	8085	MLL2	12	49424816	49424816	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32043	8085	MLL2	12	49431693	49431693	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32044	8085	MLL2	12	49420896	49420896	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32045	8085	MLL2	12	49426026	49426026	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32046	8085	MLL2	12	49437998	49437998	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32047	8085	MLL2	12	49424743	49424743	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32048	8085	MLL2	12	49434378	49434378	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32049	8085	MLL2	12	49435000	49435003	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32050	8085	MLL2	12	49446108	49446108	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32051	8085	MLL2	12	49448381	49448381	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32052	8085	MLL2	12	49427449	49427449	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32053	8085	MLL2	12	49432300	49432300	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32054	8085	MLL2	12	49422908	49422908	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32055	8085	MLL2	12	49444960	49444960	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32056	8085	MLL2	12	49432300	49432300	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32057	8085	MLL2	12	49434176	49434176	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32058	8085	MLL2	12	49434175	49434176	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32059	8085	MLL2	12	49416503	49416507	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32060	8085	MLL2	12	49437547	49437547	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32061	8085	MLL2	12	49434710	49434710	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32062	8085	MLL2	12	49434975	49434975	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32063	8085	MLL2	12	49435095	49435095	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32064	8085	MLL2	12	49416503	49416507	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32065	8085	MLL2	12	49418643	49418643	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32066	8085	MLL2	12	49424703	49424703	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32067	8085	MLL2	12	49434623	49434623	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32068	8085	MLL2	12	49436902	49436902	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32069	8085	MLL2	12	49438587	49438588	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32070	8085	MLL2	12	49428201	49428201	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32071	8085	MLL2	12	49428240	49428240	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32072	8085	MLL2	12	49442980	49442980	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32073	8085	MLL2	12	49420430	49420430	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32074	8085	MLL2	12	49424741	49424742	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32075	8085	MLL2	12	49428201	49428201	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32076	8085	MLL2	12	49432396	49432396	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32077	8085	MLL2	12	49436571	49436571	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32078	8085	MLL2	12	49439723	49439723	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32079	8085	MLL2	12	49444739	49444740	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32080	8085	MLL2	12	49435055	49435055	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32081	8085	MLL2	12	49445224	49445224	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32082	8085	MLL2	12	49425125	49425125	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
32083	8085	MLL2	12	49433900	49433900	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33443	8085	MLL2	12	49435476	49435476	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33444	8085	MLL2	12	49444159	49444159	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33445	8085	MLL2	12	49435476	49435476	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33446	8085	MLL2	12	49416080	49416080	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33447	8085	MLL2	12	49425632	49425632	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33448	8085	MLL2	12	49444730	49444730	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33449	8085	MLL2	12	49425632	49425632	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33450	8085	MLL2	12	49444879	49444879	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33451	8085	MLL2	12	49426469	49426469	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33452	8085	MLL2	12	49426469	49426469	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33453	8085	MLL2	12	49418694	49418694	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33454	8085	MLL2	12	49424390	49424390	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33455	8085	MLL2	12	49420670	49420670	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33456	8085	MLL2	12	49433837	49433837	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33457	8085	MLL2	12	49421663	49421663	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33458	8085	MLL2	12	49433819	49433819	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33459	8085	MLL2	12	49427388	49427388	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33460	8085	MLL2	12	49440483	49440483	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33461	8085	MLL2	12	49427237	49427237	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33462	8085	MLL2	12	49427204	49427204	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33463	8085	MLL2	12	49444382	49444382	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33464	8085	MLL2	12	49420237	49420237	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33465	8085	MLL2	12	49420214	49420214	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33466	8085	MLL2	12	49426472	49426472	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33467	8085	MLL2	12	49426247	49426247	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
33468	8085	MLL2	12	49437416	49437416	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
34105	8085	MLL2	12	49424781	49424781	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel
34106	8085	MLL2	12	49436920	49436920	Asymptomatic	Sanger Pyrosequencing PASM MiSeq NextSeq500 NGS gene panel

KMT2D (Entrez ID: 8085)

Variants