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Gene entry

TSC1

TSC complex subunit 1

Chromosome
9
Cytoband
9q34.13
Variants (rsID)
166

TSC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.13). Its official name is “TSC complex subunit 1”. The reference table lists 166 variants (rsID) for this gene.

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Clinically classified variants

131 reference-table entries with clinical significance.

  • rs1073123Benignsingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis syndrome|Lymphangiomyomatosis|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1|Malignant tumor of breast
  • rs116917669Benignsingle nucleotide variantTuberous sclerosis syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs118203481Benignsingle nucleotide variantTuberous sclerosis syndrome|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203493Benignsingle nucleotide variantTuberous sclerosis syndrome|Autism spectrum disorder|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs118203553Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II
  • rs118203576Benignsingle nucleotide variantTuberous sclerosis 1|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II
  • rs118203699Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs118203720Benignsingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II
  • rs118203721Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs118203723Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs145741748Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs35958226Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs370122384Benignsingle nucleotide variantIsolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs397514808Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs397514809Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome
  • rs751247705Benignsingle nucleotide variantTuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs76801599Benignsingle nucleotide variantTuberous sclerosis syndrome|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs7862221Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs796053447Benignsingle nucleotide variantTuberous sclerosis 1
  • rs118203395Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II
  • rs118203400Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203439Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203530Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs118203532Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome|Primitive neuroectodermal tumor|Tuberous sclerosis 1
  • rs118203657Conflicting interpretationssingle nucleotide variantFocal cortical dysplasia of Taylor type 2B|Tuberous sclerosis 1|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II
  • rs118203670Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs118203742Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs118203745Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II
  • rs118203750Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs148756522Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome
  • rs148931779Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs199620268Conflicting interpretationssingle nucleotide variantAutism spectrum disorder|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs199755731Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis|Tuberous sclerosis 1
  • rs200200869Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome
  • rs374222196Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs377185303Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs377598226Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs397514864Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs535868591Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs748901883Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs749030456Conflicting interpretationssingle nucleotide variantIsolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Tuberous sclerosis syndrome
  • rs750441497Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs753360364Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs753374839Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Isolated focal cortical dysplasia type II|Hereditary cancer-predisposing syndrome
  • rs755655903Conflicting interpretationsMicrosatelliteTuberous sclerosis 1|Seizure|Hereditary cancer-predisposing syndrome
  • rs763915012Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs77464996Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II
  • rs775869914Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs781312535Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs796053452Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs886038287Conflicting interpretationssingle nucleotide variantTuberous sclerosis 1
  • rs201452238Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs779340088Likely benignsingle nucleotide variantTuberous sclerosis 1
  • rs876660723Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs1057518945Likely pathogenicDeletionCortical tubers|Adenoma sebaceum
  • rs1057519319Likely pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs1060503224Likely pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs118203402Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome
  • rs118203403Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203426Likely pathogenicsingle nucleotide variantTuberous sclerosis 1|Tuberous sclerosis syndrome
  • rs1057518217Pathogenicsingle nucleotide variant
  • rs1057520444Pathogenicsingle nucleotide variant
  • rs1060503213PathogenicDeletionTuberous sclerosis 1
  • rs1064793494Pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs1064794132Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs1064794504PathogenicInsertion
  • rs1064795285PathogenicMicrosatelliteTuberous sclerosis 1
  • rs1064796162PathogenicDeletion
  • rs1064796237PathogenicDeletion
  • rs118203345Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203352Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203360PathogenicMicrosatelliteTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203384Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203387Pathogenicsingle nucleotide variantLymphangiomyomatosis|Tuberous sclerosis syndrome
  • rs118203388Pathogenicsingle nucleotide variantLymphangiomyomatosis
  • rs118203396Pathogenicsingle nucleotide variantTuberous sclerosis 1|Tuberous sclerosis syndrome
  • rs118203419Pathogenicsingle nucleotide variantMalignant tumor of urinary bladder|Tuberous sclerosis 1
  • rs118203427Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Tuberous sclerosis 1|Lymphangiomyomatosis|Isolated focal cortical dysplasia type II
  • rs118203434Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Hereditary cancer-predisposing syndrome
  • rs118203438Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203440Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203450Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203451PathogenicMicrosatelliteTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203454Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203463Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203474Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203501PathogenicDeletionTuberous sclerosis syndrome
  • rs118203506PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203537Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Lymphangiomyomatosis
  • rs118203542Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis 1|Tuberous sclerosis 1|Lymphangiomyomatosis|Isolated focal cortical dysplasia type II
  • rs118203549Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis 1
  • rs118203550PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203564PathogenicDeletionTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203606Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
  • rs118203620PathogenicDeletionTuberous sclerosis syndrome
  • rs118203631Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Malignant tumor of urinary bladder|Tuberous sclerosis 1|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis
  • rs118203647Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203661Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203668Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203680Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Lymphangiomyomatosis|Tuberous sclerosis 1|Isolated focal cortical dysplasia type II
  • rs118203682Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1|Seizure|Hamartoma|Cardiac rhabdomyoma|Hereditary cancer-predisposing syndrome
  • rs118203687Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
  • rs118203711PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203712PathogenicDeletionTuberous sclerosis syndrome
  • rs118203726PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs118203727Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203728Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 1
  • rs118203732Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs1447417010Pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs397514776Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
  • rs397514783Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs397514861PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs397514862Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs397514871Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs397514874Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
  • rs796053464PathogenicDeletion
  • rs796053466PathogenicDeletion
  • rs796053470PathogenicDuplication
  • rs796053471PathogenicDeletion
  • rs886039662Pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs886039735PathogenicMicrosatellite
  • rs886041456PathogenicDeletion
  • rs886041524Pathogenicsingle nucleotide variant
  • rs886041538Pathogenicsingle nucleotide variantTuberous sclerosis 1
  • rs886041638Pathogenicsingle nucleotide variant
  • rs886041684PathogenicDeletion
  • rs886041959PathogenicDuplication
  • rs1060505021Uncertain significancesingle nucleotide variantIsolated focal cortical dysplasia type II|Tuberous sclerosis 1
  • rs118203381Uncertain significancesingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 1
  • rs201738258Uncertain significancesingle nucleotide variantTuberous sclerosis 1
  • rs118203614Not classifiedsingle nucleotide variantTuberous sclerosis syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.