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
RS2090784195 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090784696 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090785469 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090851576 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090865155 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2090871271 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091048308 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091087487 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091089201 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2091147162 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150970014 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150970257 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150972985 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2150973810 Health Risk Pathogenic —
RS2150997192 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151029157 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151061858 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151069014 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151070992 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151078845 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151078913 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151081778 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151087352 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151108081 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151110209 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151134473 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151134671 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151155696 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151155973 Health Risk Pathogenic —
RS2151156291 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151161634 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151164702 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2151165414 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151170644 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2151171193 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151188797 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151190319 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151192256 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151278146 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151278476 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151279634 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151297228 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151303613 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151306395 Health Risk Pathogenic —
RS2151315345 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151317705 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2151318037 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151318827 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151327153 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151327516 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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