TSC2 Chromosome 16

TSC complex subunit 2
2446 variants 2446 Health Risk

Upload your DNA to see your personal genotypes for variants in TSC2.

What This Gene Does
This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|TSC complex"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103197
Associated Conditions (60)
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis syndrome
TSC2-related disorder
Vesicoureteral reflux 8
Ovarian cancer
Tuberous sclerosis 1
Lung lymphangioleiomyomatosis
See cases
Hypertrophic cardiomyopathy 7
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Colorectal cancer
Melanoma
Rhabdomyoma
Autism spectrum disorder
Sarcoma
+40 more conditions
Key Variants
RS1001211672
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
Health Risk
RS1005027685
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1008733639
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
Health Risk
RS1009050362
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
RS1011282445
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
Health Risk
RS1013995962
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1015282988
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
Health Risk
RS1015629239
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
RS1018327394
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1018951391
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
Health Risk
RS1020561347
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
Health Risk
RS1026632436
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
All Variants (2446)
RSID Category Clinical Significance Conditions
RS1567504592 Health Risk Pathogenic —
RS1567521369 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567524236 Health Risk Pathogenic —
RS1567524949 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567526941 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567528487 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS1567533189 Health Risk Pathogenic Autism spectrum disorder, Tuberous sclerosis syndrome, Autism spectrum disorder
RS1567533467 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596234235 Health Risk Pathogenic —
RS1596265482 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596270787 Health Risk Pathogenic —
RS1596275494 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596288988 Health Risk Pathogenic Tuberous sclerosis 2, TSC2-related disorder, Tuberous sclerosis 2
RS1596298137 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596298721 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596312554 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596317714 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596335963 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596336374 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596336436 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596343922 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596344279 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596350698 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596356248 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596356898 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596369682 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596382268 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596382441 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596384304 Health Risk Pathogenic —
RS1596389437 Health Risk Pathogenic —
RS1596389562 Health Risk Pathogenic —
RS1596400038 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596400563 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596417662 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596418520 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596439555 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596455074 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS202068995 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2039161082 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084669441 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084674122 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084681207 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084683129 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2084954667 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085375504 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085499583 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085667006 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085669104 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085898708 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2085953535 Health Risk Pathogenic —
« Prev 1 ... 33 34 35 36 37 38 39 ... 49 Next »
Sign Up to Analyze Your DNA Log In