TET2 Chromosome 4

Tet methylcytosine dioxygenase 2

109 variants 109 Health Risk

Upload your DNA to see your personal genotypes for variants in TET2.

What This Gene Does

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Gene Info

Gene Group

Tet methylcytosine dioxygenase family

Locus Type

gene with protein product

Location

4q24

Ensembl

ENSG00000168769

Associated Conditions (8)

TET2-related disorder

Immunodeficiency 75

EBV-positive nodal T- and NK-cell lymphoma

Myelodysplastic syndrome

Multiple myeloma

Angioimmunoblastic T-cell lymphoma

Third degree atrioventricular block

Clonal hematopoiesis

Key Variants

RS1049545383

Conflicting classifications of pathogenicity

Health Risk

RS144467609

Conflicting classifications of pathogenicity

Health Risk

RS146031219

Conflicting classifications of pathogenicity

Health Risk

RS147591998

Conflicting classifications of pathogenicity

Health Risk

RS192879693

Conflicting classifications of pathogenicity

Health Risk

RS2476505738

Conflicting classifications of pathogenicity

Health Risk

RS28555446

Conflicting classifications of pathogenicity

Health Risk

RS568009712

Conflicting classifications of pathogenicity

Health Risk

RS759055581

Conflicting classifications of pathogenicity

Immunodeficiency 75, Immunodeficiency 75

Health Risk

RS780710758

Conflicting classifications of pathogenicity

EBV-positive nodal T- and NK-cell lymphoma, Myelodysplastic syndrome, Immunodeficiency 75

Health Risk

RS1242089483

Likely pathogenic

Myelodysplastic syndrome, Immunodeficiency 75, EBV-positive nodal T- and NK-cell lymphoma

Health Risk

RS1267484829

Likely pathogenic

Health Risk

All Variants (109)

RSID	Category	Clinical Significance	Conditions
RS1049545383	Health Risk	Conflicting classifications of pathogenicity	—
RS144467609	Health Risk	Conflicting classifications of pathogenicity	TET2-related disorder, TET2-related disorder
RS146031219	Health Risk	Conflicting classifications of pathogenicity	TET2-related disorder, TET2-related disorder
RS147591998	Health Risk	Conflicting classifications of pathogenicity	—
RS192879693	Health Risk	Conflicting classifications of pathogenicity	TET2-related disorder, TET2-related disorder
RS2476505738	Health Risk	Conflicting classifications of pathogenicity	—
RS28555446	Health Risk	Conflicting classifications of pathogenicity	TET2-related disorder, TET2-related disorder
RS568009712	Health Risk	Conflicting classifications of pathogenicity	—
RS759055581	Health Risk	Conflicting classifications of pathogenicity	Immunodeficiency 75, Immunodeficiency 75
RS780710758	Health Risk	Conflicting classifications of pathogenicity	EBV-positive nodal T- and NK-cell lymphoma, Myelodysplastic syndrome, Immunodeficiency 75
RS1242089483	Health Risk	Likely pathogenic	Myelodysplastic syndrome, Immunodeficiency 75, EBV-positive nodal T- and NK-cell lymphoma
RS1267484829	Health Risk	Likely pathogenic	—
RS1578264146	Health Risk	Likely pathogenic	Multiple myeloma, Multiple myeloma
RS2476498043	Health Risk	Likely pathogenic	Immunodeficiency 75, Immunodeficiency 75
RS2476499894	Health Risk	Likely pathogenic	—
RS2476623405	Health Risk	Likely pathogenic	—
RS377382567	Health Risk	Likely pathogenic	—
RS771168522	Health Risk	Likely pathogenic	TET2-related disorder, TET2-related disorder
RS772634266	Health Risk	Likely pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1021869760	Health Risk	Pathogenic	—
RS1165986811	Health Risk	Pathogenic	—
RS1223795843	Health Risk	Pathogenic	—
RS1224691808	Health Risk	Pathogenic	—
RS1231721810	Health Risk	Pathogenic	—
RS1235228377	Health Risk	Pathogenic	—
RS1245041497	Health Risk	Pathogenic	Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma
RS1279700648	Health Risk	Pathogenic	—
RS1322900367	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1323211736	Health Risk	Pathogenic	—
RS1352258641	Health Risk	Pathogenic	Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma
RS1352624446	Health Risk	Pathogenic	—
RS1386986367	Health Risk	Pathogenic	—
RS1434577007	Health Risk	Pathogenic	—
RS1440692352	Health Risk	Pathogenic	—
RS1560544979	Health Risk	Pathogenic	—
RS1728692644	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1728693166	Health Risk	Pathogenic	—
RS1728704616	Health Risk	Pathogenic	—
RS1728711651	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1728783958	Health Risk	Pathogenic	—
RS1728991935	Health Risk	Pathogenic	—
RS1729381211	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS1730329392	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2110231198	Health Risk	Pathogenic	Myelodysplastic syndrome, Myelodysplastic syndrome
RS2110232389	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma
RS2110234873	Health Risk	Pathogenic	—
RS2110237946	Health Risk	Pathogenic	—
RS2110249286	Health Risk	Pathogenic	—
RS2110306146	Health Risk	Pathogenic	—
RS2110315013	Health Risk	Pathogenic	EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma

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