ConVarT

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Filter
11-118307239-C-A	ENST00000534358	p.Ser4Arg	Missense Variant	0	0	0
11-118307243-C-T	ENST00000534358	p.Arg6Trp	Missense Variant	0	0	0
11-118307253-TC-T	ENST00000534358	p.Ala11ProfsTer17	Frameshift Variant	0	0	0
11-118307254-C-T	ENST00000534358	p.Phe9Phe	Synonymous Variant	0	0	0	rs782207243
11-118307257-C-A	ENST00000534358	p.Pro10Pro	Synonymous Variant	0	0	0
11-118307259-C-G	ENST00000534358	p.Ala11Gly	Missense Variant	0	0	0
11-118307262-G-T	ENST00000534358	p.Arg12Leu	Missense Variant	0	0	0
11-118307266-C-T	ENST00000534358	p.Pro13Pro	Synonymous Variant	0	0	0
11-118307278-G-GGGA	ENST00000534358	p.Gly23dup	Inframe Insertion	0	0	0	rs782302713
11-118307278-GGGC-G	ENST00000534358	p.Gly23del	Inframe Deletion	0	29504	0	rs782302713	AC0,RF
11-118307281-C-T	ENST00000534358	p.Gly18Gly	Synonymous Variant	3	29212	0.000103		RF
11-118307287-C-T	ENST00000534358	p.Gly20Gly	Synonymous Variant	0	0	0
11-118307292-G-C	ENST00000534358	p.Gly22Ala	Missense Variant	1	28858	0.000035
11-118307296-G-A	ENST00000534358	p.Gly23Gly	Synonymous Variant	1	28708	0.000035	rs782345654	RF
11-118307305-C-T	ENST00000534358	p.Gly26Gly	Synonymous Variant	1	28204	0.000035	rs781973852
11-118307309-G-T	ENST00000534358	p.Gly28Trp	Missense Variant	0	0	0	rs782113710
11-118307316-C-G	ENST00000534358	p.Ala30Gly	Missense Variant	437	27692	0.015781	rs9332745
11-118307354-G-T	ENST00000534358	p.Gly43Trp	Missense Variant	0	0	0
11-118307362-G-A	ENST00000534358	p.Pro45Pro	Synonymous Variant	1	27190	0.000037	rs9332746
11-118307374-C-T	ENST00000534358	p.Gly49Gly	Synonymous Variant	8	27256	0.000294

Showing 1 to 20 of 2,260 entries

Previous1 2 3 4 5…113Next

Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
KMT2A	Q03164	Phosphorylation	1004	S1004-p	STVKHSTsSIGSMLA	431.76	23126230
KMT2A	Q03164	Phosphorylation	1025	S1025-p	MTDKRVAsLLKKAKA	431.76	31862701
KMT2A	Q03164	Phosphorylation	1056	S1056-p	PKAQGQEsDssETsV	431.76	3194153
KMT2A	Q03164	Phosphorylation	1058	S1058-p	AQGQEsDssETsVRG	431.76	54414819
KMT2A	Q03164	Phosphorylation	1059	S1059-p	QGQEsDssETsVRGP	431.76	17544464
KMT2A	Q03164	Phosphorylation	1062	S1062-p	EsDssETsVRGPRIK	431.76	51389623
KMT2A	Q03164	Phosphorylation	1114	S1114-p	SMGNDDKsSIAGsED	431.76	4709086
KMT2A	Q03164	Phosphorylation	1119	S1119-p	DKsSIAGsEDAEPLA	431.76	4709098
KMT2A	Q03164	Acetylation	1130	K1130-ac	EPLAPPIkPIKPVTR	431.76	11319706
KMT2A	Q03164	Phosphorylation	1220	S1220-p	VKKKEKKsKTSEKKD	431.76	23126233
KMT2A	Q03164	Acetylation	1235	K1235-ac	SKESSVVkNVVDssQ	431.76	11319702
KMT2A	Q03164	Phosphorylation	1240	S1240-p	VVkNVVDssQKPtPS	431.76	31864318
KMT2A	Q03164	Phosphorylation	1241	S1241-p	VkNVVDssQKPtPSA	431.76	23126236
KMT2A	Q03164	Phosphorylation	1245	T1245-p	VDssQKPtPSAREDP	431.76	36124740
KMT2A	Q03164	Phosphorylation	1277	S1277-p	KSEEGNVsAPGPESK	431.76	36130593
KMT2A	Q03164	Phosphorylation	1299	S1299-p	RKSSKQVsQPALVIP	431.76	34364865
KMT2A	Q03164	Acetylation	1345	K1345-ac	GPEQSKQkkVAPRPs	431.76	9911061
KMT2A	Q03164	Acetylation	1346	K1346-ac	PEQSKQkkVAPRPsI	431.76	9911066
KMT2A	Q03164	Phosphorylation	1352	S1352-p	kkVAPRPsIPVKQKP	431.76	23126238
KMT2A	Q03164	Phosphorylation	136	S136-p	FRAVFGEsGGGGGsG	431.76	3194156

Showing 1 to 20 of 250 entries

Previous1 2 3 4 5…13Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
KMT2A	ENST00000534358	P-0007696-T01-IM5	lung	carcinoma	80051988	c.11293G>T	p.G3765C	Substitution - Missense	PATHOGENIC	.99611	Confirmed somatic variant	PMID: 28481359	metastasis	3765
KMT2A	ENST00000534358	TCGA-DA-A1HY-06	skin	malignant_melanoma	80061276	c.4219-2A>G	p.?	Unknown	PATHOGENIC	.99724	Confirmed somatic variant	PMID: N/A	NS	0
KMT2A	ENST00000534358	P-0002490-T01-IM3	NS	malignant_melanoma	80044018	c.590C>T	p.S197F	Substitution - Missense	PATHOGENIC	.94714	Confirmed somatic variant	PMID: 28481359	metastasis	197
KMT2A	ENST00000534358	H_LV-4141-1316232	breast	carcinoma	80059686	c.2659G>A	p.E887K	Substitution - Missense	PATHOGENIC	.97572	Variant of unknown origin	PMID: 30181556	NS	887
KMT2A	ENST00000534358	2801585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	171770411	c.433_4086dup	p.D145_K1362dup	Insertion - In frame			Variant of unknown origin	PMID: 9426057	primary	0
KMT2A	ENST00000534358	1057776	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	171768619	c.(433_4479)dup	p.(D145_Q1494)dup	Insertion - In frame			Variant of unknown origin	PMID: 15710585	NS	0
KMT2A	ENST00000534358	MG-100-tumor	meninges	meningioma	80055093	c.4013-120C>T	p.?	Unknown	NEUTRAL	.00319	Variant of unknown origin	PMID: 28713588	NS	0
KMT2A	ENST00000534358	TCGA-GF-A2C7-01	skin	malignant_melanoma	80053648	c.5243C>A	p.P1748Q	Substitution - Missense	PATHOGENIC	.98463	Confirmed somatic variant	PMID: N/A	NS	1748
KMT2A	ENST00000534358	P-0005151-T01-IM5	large_intestine	carcinoma	80045855	c.2318del	p.P773Rfs*8	Deletion - Frameshift			Confirmed somatic variant	PMID: 28481359	primary	773
KMT2A	ENST00000534358	PCSI_0468_Pa_P_526	pancreas	carcinoma	80053027	c.843C>T	p.L281=	Substitution - coding silent	PATHOGENIC	.89618	Confirmed somatic variant	PMID: N/A	primary	281
KMT2A	ENST00000534358	HCC72T	liver	carcinoma	80047467	c.4696+36G>T	p.?	Unknown	NEUTRAL	.12158	Reported in another cancer sample as somatic	PMID: N/A	primary	0
KMT2A	ENST00000534358	YUZINO	skin	malignant_melanoma	80062197	c.3196C>T	p.P1066S	Substitution - Missense	PATHOGENIC	.98959	Confirmed somatic variant	PMID: 22842228	metastasis	1066
KMT2A	ENST00000534358	GHE0536	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	80044961	c.374A>C	p.N125T	Substitution - Missense		.67443	Confirmed somatic variant	PMID: 26608593	recurrent	125
KMT2A	ENST00000534358	MBC015T	breast	carcinoma	80051137	c.8691T>G	p.F2897L	Substitution - Missense	PATHOGENIC	.96908	Variant of unknown origin	PMID: 31340200	NS	2897
KMT2A	ENST00000534358	YUZINO	skin	malignant_melanoma	80062200	c.4622C>T	p.P1541L	Substitution - Missense	PATHOGENIC	.99104	Confirmed somatic variant	PMID: 22842228	metastasis	1541
KMT2A	ENST00000534358	P-0003852-T01-IM5	prostate	carcinoma	80050669	c.4576A>T	p.I1526F	Substitution - Missense	PATHOGENIC	.96328	Confirmed somatic variant	PMID: 28481359	primary	1526
KMT2A	ENST00000534358	5-VS054-T1	skin	carcinoma	80066055	c.1703C>T	p.P568L	Substitution - Missense	PATHOGENIC	.97154	Confirmed somatic variant	PMID: 26950094	NS	568
KMT2A	ENST00000534358	1057784	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	171768619	c.(433_4479)dup	p.(D145_Q1494)dup	Insertion - In frame			Variant of unknown origin	PMID: 15710585	NS	0
KMT2A	ENST00000534358	LCT10	testis	sex_cord-stromal_tumour	80054726	c.71_89del	p.R24Pfs*120	Deletion - Frameshift			Variant of unknown origin	PMID: 31147264	NS	24
KMT2A	ENST00000534358	389	oesophagus	carcinoma	80061285	c.198G>A	p.A66=	Substitution - coding silent	NEUTRAL	.34535	Confirmed somatic variant	PMID: 25151357	primary	66

Showing 1 to 20 of 1,596 entries

Previous1 2 3 4 5…80Next

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00628	PHD	PHD-finger	1568-1627	CL0390	zf-FYVE-PHD	Homo sapiens
PF00628	PHD	PHD-finger	1481-1533	CL0390	zf-FYVE-PHD	Homo sapiens
PF00856	SET	SET domain	3840-3945			Homo sapiens
PF02008	zf-CXXC	CXXC zinc finger domain	1147-1194			Homo sapiens
PF05964	FYRN	F/Y-rich N-terminus	2024-2071			Homo sapiens
PF05965	FYRC	F/Y rich C-terminus	3666-3748			Homo sapiens
PF13771	zf-HC5HC2H	PHD-like zinc-binding domain	1900-1978	CL0390	zf-FYVE-PHD	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.46	0.793
Autosome Abnormalities	Pathological Conditions, Signs and Symptoms ;	0.46	0.793
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.46	0.793
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.46	0.793
Burkitt Lymphoma	Virus Diseases ; Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Carcinoma, Transitional Cell	Neoplasms ;	0.46	0.793
Chromosome Aberrations	Pathological Conditions, Signs and Symptoms ;	0.46	0.793
Cytopenia	N/A	0.46	0.793
leukemia	Neoplasms ;	0.46	0.793
Lymphoid leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Childhood Acute Lymphoblastic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Leukemia, Lymphocytic, Acute, L2	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Acute biphenotypic leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Acute monocytic leukemia	Neoplasms ;	0.46	0.793
Leukemia, Monocytic, Chronic	Neoplasms ;	0.46	0.793
Leukemia, Myelocytic, Acute	Neoplasms ;	0.46	0.793
Myeloid Leukemia	Neoplasms ;	0.46	0.793
Acute myelomonocytic leukemia	Neoplasms ;	0.46	0.793
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.46	0.793
Acute Myeloid Leukemia, M1	Neoplasms ;	0.46	0.793
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.46	0.793
Schizophrenia	Mental Disorders ;	0.46	0.793
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.46	0.793
Small cell carcinoma of lung	Neoplasms ; Respiratory Tract Diseases ;	0.46	0.793
Congenital anemia	N/A	0.46	0.793
Adenocarcinoma, Basal Cell	Neoplasms ;	0.46	0.793
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.46	0.793
Carcinoma, Cribriform	Neoplasms ;	0.46	0.793
Carcinoma, Granular Cell	Neoplasms ;	0.46	0.793
Adenocarcinoma, Tubular	Neoplasms ;	0.46	0.793
Cornelia De Lange Syndrome	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.46	0.793
Acute Undifferentiated Leukemia	N/A	0.46	0.793
Acute bilineal leukemia	N/A	0.46	0.793
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.46	0.793
Undifferentiated type acute leukemia	N/A	0.46	0.793
Precursor B-cell lymphoblastic leukemia	N/A	0.46	0.793
Acute myeloid leukemia, 11q23 abnormalities	N/A	0.46	0.793
Neurodevelopmental Disorders	Mental Disorders ;	0.46	0.793
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.46	0.793
Growth Deficiency and Mental Retardation with Facial Dysmorphism	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.46	0.793
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.46	0.793
Precursor Cell Lymphoblastic Leukemia Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.46	0.793
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.46	0.793
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.46	0.793
NO RESULT FOUND

Description:	lysine methyltransferase 2A [Source:HGNC Symbol;Acc:HGNC:7132]
Synonyms:	MLL1A, HTRX1, ALL-1, WDSTS, MLL1, HRX, RX1, MLL, CXXC7
Other ID(s):	HGNC:7132, ENSG00000118058
Protein Accession Numbers:	ENST00000593514, ENST00000601525, ENST00000392873, ENST00000599178, ENST00000354520, ENST00000533790, ENST00000595462, NP_005924, ENST00000529852, ENST00000534358.1, ENST00000601231, ENST00000389506, ENST00000597155, ENST00000532204, ENST00000594623, NP_001184033, ENST00000527869, ENST00000600241, ENST00000354520.4, ENST00000534358, ENST00000597114, ENST00000531904
Statistics:	ClinVar(325) gnomAD(2260) COSMIC(1596) PTM(250)

Classification of Clinicial Significance of ClinVar Data