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
RS1555439847 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555440022 Health Risk Pathogenic —
RS1555440437 Health Risk Pathogenic —
RS1555441221 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555495676 Health Risk Pathogenic —
RS1555497641 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555497690 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555497714 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555498221 Health Risk Pathogenic —
RS1555500535 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555501373 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555502518 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555502530 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555503131 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555505103 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555505208 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555505211 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555505742 Health Risk Pathogenic —
RS1555505954 Health Risk Pathogenic —
RS1555506201 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555506395 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555506428 Health Risk Pathogenic —
RS1555506557 Health Risk Pathogenic —
RS1555507462 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555507612 Health Risk Pathogenic —
RS1555507623 Health Risk Pathogenic —
RS1555508917 Health Risk Pathogenic —
RS1555510579 Health Risk Pathogenic —
RS1555511352 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS1555511585 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555512330 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555512497 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1555514034 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555514063 Health Risk Pathogenic —
RS1555514179 Health Risk Pathogenic —
RS1555514354 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555514548 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567135103 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567386603 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567394860 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567395826 Health Risk Pathogenic —
RS1567398983 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567408314 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567409292 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567428094 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567437155 Health Risk Pathogenic Lymphangiomyomatosis, Isolated focal cortical dysplasia type II, Tuberous sclerosis 2
RS1567437492 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567457100 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567489890 Health Risk Pathogenic Tuberous sclerosis 2, Cortical tubers, Neoplasm
RS1567498041 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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