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
RS2085955298 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086233936 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086680808 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086689358 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086699971 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2086765953 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086767947 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086777094 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086826069 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087013746 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087026946 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087032456 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2087224465 Health Risk Pathogenic —
RS2087230941 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2087242404 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088115626 Health Risk Pathogenic —
RS2088122285 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088453139 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088476977 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088578781 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2088702417 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088927807 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088933078 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2088938668 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089256835 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089261042 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089270984 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089276880 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089323124 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089331902 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089786684 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089827541 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089834376 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089838149 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089840483 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089878502 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2089956522 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090159838 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090169575 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090423688 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090492186 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090496214 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090516898 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090524176 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090530802 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090542594 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090620654 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2090622255 Health Risk Pathogenic Lymphangiomyomatosis, Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS2090634528 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2090775918 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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