TSC2 Chromosome 16

TSC complex subunit 2
2446 variants 2446 Health Risk

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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
RS760205499 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS760214724 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS760230300 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS760265207 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS760395277 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, TSC2-related disorder
RS760413281 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis, Isolated focal cortical dysplasia type II
RS760457821 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS760489473 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS760566516 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS760584946 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS760688660 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS760781650 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS760896048 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS761162904 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS761181064 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761458933 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761569930 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS761618860 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS761704292 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS761713908 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS761975891 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
RS762104739 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS762149472 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS762228318 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, TSC2-related disorder
RS762320484 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS762331610 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS762368225 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS762423563 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS762570079 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS762650392 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS762797016 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS762798984 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS762819541 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS763047420 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS763099064 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
RS763122999 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
RS763183991 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS763351805 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS763497329 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS763804965 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS763842281 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS763847509 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
RS763863196 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS764113584 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS764191178 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS764218079 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS764529584 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS764533757 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS764608837 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS764626623 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
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