ITK Chromosome 5
IL2 inducible T cell kinase
Upload your DNA to see your personal genotypes for variants in ITK.
What This Gene Does
This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing|Tec family tyrosine kinases"
Locus Type
gene with protein product
Location
5q33.3
Ensembl
ENSG00000113263
Associated Conditions (4)
Lymphoproliferative syndrome 1
Inborn genetic diseases
Autoinflammatory syndrome
ITK-related disorder
Key Variants
RS142038079
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Inborn genetic diseases, Lymphoproliferative syndrome 1
Health Risk
RS145991142
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Autoinflammatory syndrome, Lymphoproliferative syndrome 1
Health Risk
RS1459993484
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
RS151046132
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, ITK-related disorder, Lymphoproliferative syndrome 1
Health Risk
RS189091977
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
RS200603754
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
RS201403794
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
RS201568204
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Autoinflammatory syndrome, ITK-related disorder
Health Risk
RS201859710
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Autoinflammatory syndrome, Lymphoproliferative syndrome 1
Health Risk
RS34482255
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Autoinflammatory syndrome, ITK-related disorder
Health Risk
RS376728021
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
RS577305220
Conflicting classifications of pathogenicity
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142038079 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Inborn genetic diseases, Lymphoproliferative syndrome 1 |
| RS145991142 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Autoinflammatory syndrome, Lymphoproliferative syndrome 1 |
| RS1459993484 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS151046132 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, ITK-related disorder, Lymphoproliferative syndrome 1 |
| RS189091977 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS200603754 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS201403794 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS201568204 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Autoinflammatory syndrome, ITK-related disorder |
| RS201859710 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Autoinflammatory syndrome, Lymphoproliferative syndrome 1 |
| RS34482255 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Autoinflammatory syndrome, ITK-related disorder |
| RS376728021 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS577305220 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS61743239 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, ITK-related disorder, Lymphoproliferative syndrome 1 |
| RS749411240 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS750585884 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Lymphoproliferative syndrome 1, ITK-related disorder |
| RS760908622 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Inborn genetic diseases, Lymphoproliferative syndrome 1 |
| RS765303299 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS765948222 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Lymphoproliferative syndrome 1, Autoinflammatory syndrome |
| RS767821181 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS776493663 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Inborn genetic diseases, Lymphoproliferative syndrome 1 |
| RS777757937 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Inborn genetic diseases, Lymphoproliferative syndrome 1 |
| RS780173849 | Health Risk | Conflicting classifications of pathogenicity | Lymphoproliferative syndrome 1, Autoinflammatory syndrome, Lymphoproliferative syndrome 1 |
| RS121908191 | Health Risk | Likely pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS2480508084 | Health Risk | Likely pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS2480551478 | Health Risk | Likely pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS397514261 | Health Risk | Likely pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS140451238 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS1554102738 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1561664502 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS1754674801 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS1755074965 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS2480559806 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS2480559834 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS2480598071 | Health Risk | Pathogenic | — |
| RS397514260 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS781686293 | Health Risk | Pathogenic | Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS1207540324 | Health Risk | Pathogenic/Likely pathogenic | — |