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
RS2543912026 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543928077 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543928320 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543929566 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543931114 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543931855 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543933474 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544021854 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544032026 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544032618 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544034770 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544036138 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544043696 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544046016 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544047995 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544053417 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544054315 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544055758 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544066099 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544067323 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2544072093 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544094952 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544102983 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544103037 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544105995 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544152864 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544155608 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544155741 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544156047 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS2544160168 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544161564 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544163111 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544231243 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544234809 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544257930 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544258529 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544262969 Health Risk Pathogenic —
RS2544267283 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544270938 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544271382 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544273100 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544273738 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544273997 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544282973 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544284689 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544285591 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544287299 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544305978 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544306369 Health Risk Pathogenic —
RS2544308169 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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