Gene entry
TSC2
TSC complex subunit 2
- Chromosome
- 16
- Cytoband
- 16p13.3
- Variants (rsID)
- 344
TSC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16p13.3). Its official name is “TSC complex subunit 2”. The reference table lists 344 variants (rsID) for this gene.
Clinically classified variants
331 reference-table entries with clinical significance (first 200 shown).
- rs1057522105Benignsingle nucleotide variantTuberous sclerosis 2
- rs137854215Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs137854410Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs137854421Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs139060277Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs144165984Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs145470784Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs147196739Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Tuberous sclerosis syndrome
- rs148325559Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs17135764Benignsingle nucleotide variantTuberous sclerosis 2
- rs1800725Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs199991910Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs201126835Benignsingle nucleotide variantTuberous sclerosis 2
- rs201835391Benignsingle nucleotide variantTuberous sclerosis 2|History of neurodevelopmental disorder|Hereditary cancer-predisposing syndrome
- rs202187148Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs370864445Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs374476631Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs397515011Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45457694Benignsingle nucleotide variantTuberous sclerosis syndrome|Lymphangiomyomatosis|Tuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45462593Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45469392Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45478595Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45482691Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45482793Benignsingle nucleotide variantTuberous sclerosis syndrome
- rs45505895Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517097Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517130Benignsingle nucleotide variantTuberous sclerosis syndrome|Lymphangiomyomatosis|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517171Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517188Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517203Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517206Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517208Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517307Benignsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517423Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis syndrome|Lymphangiomyomatosis|Tuberous sclerosis and lymphangiomyomatosis|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs587778728Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs587781683Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs587781774Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs745897413Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs754276150Benignsingle nucleotide variantTuberous sclerosis 2
- rs754957491Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs756121647Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis syndrome|Tuberous sclerosis 2
- rs763702215Benignsingle nucleotide variantTuberous sclerosis 2
- rs769286175Benignsingle nucleotide variantTuberous sclerosis 2
- rs770117004Benignsingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs772439098Benignsingle nucleotide variantTuberous sclerosis 2
- rs777988634Benignsingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs778544723Benignsingle nucleotide variantTuberous sclerosis 2
- rs780953278Benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs1057518103Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs1057518322Conflicting interpretationsDeletionTuberous sclerosis 2
- rs137854123Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854152Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs137854298Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854406Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|See cases
- rs137920189Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs139753238Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs140618379Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs141449031Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs142085017Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs150195368Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis
- rs150672640Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome
- rs150999168Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs200004126Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs200140994Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs200532154Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs201144475Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs201599540Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs201694466Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs34567401Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs369932305Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs370404391Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs372463702Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs374936223Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Tuberous sclerosis syndrome|Lymphangiomyomatosis
- rs377123510Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs397515062Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs397515077Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Autism spectrum disorder|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs397515187Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs397515220Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397515223Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome|Lymphangiomyomatosis
- rs397515241Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45437192Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45445593Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45473098Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45474691Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45484298Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Hirschsprung disease, susceptibility to, 1|Tuberous sclerosis 2
- rs45485591Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Seizure|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome|Lymphangiomyomatosis
- rs45486591Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45492397Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45506695Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45509392Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs45514391Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517113Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517136Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517172Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517196Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517204Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517215Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517275Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs45517284Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs45517294Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517328Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs45517333Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II|Lymphangiomyomatosis|Tuberous sclerosis 2|Tuberous sclerosis 2
- rs45517338Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs528706539Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs539927192Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs549612492Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs745895675Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome|Isolated focal cortical dysplasia type II
- rs746958032Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome
- rs747237113Conflicting interpretationssingle nucleotide variantCortical tubers|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs749367382Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs751305758Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs753781434Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs757113497Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|History of neurodevelopmental disorder
- rs760395277Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs763842281Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs764925296Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs765336852Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs767392684Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs769562717Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|History of neurodevelopmental disorder|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs772617064Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs774526017Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs778352969Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs786202178Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis syndrome|Tuberous sclerosis 2
- rs786203791Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs794727093Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs796053476Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs796053483Conflicting interpretationssingle nucleotide variantAutism spectrum disorder|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs796053492Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Tuberous sclerosis 2|Lymphangiomyomatosis
- rs886043268Conflicting interpretationssingle nucleotide variantTuberous sclerosis 2
- rs886051794Conflicting interpretationssingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2|Hereditary cancer-predisposing syndrome
- rs397515177Drug responsesingle nucleotide variantTuberous sclerosis syndrome|Everolimus response
- rs137854353Likely benignsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs1800705Likely benignsingle nucleotide variantTuberous sclerosis syndrome
- rs1057523509Likely pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1060500972Likely pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs137854345Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397514919Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome
- rs397515207Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome
- rs45481199Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45517109Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome
- rs45517131Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome
- rs45517239Likely pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs794727602Likely pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1057518230Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1057518448PathogenicDeletion
- rs1057518508PathogenicDeletion
- rs1057520759Pathogenicsingle nucleotide variant
- rs1060499647PathogenicDeletionTuberous sclerosis 2
- rs1060499676Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1060500924Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1060500931Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1060500934PathogenicDeletionTuberous sclerosis 2
- rs1060500950PathogenicDeletionTuberous sclerosis 2
- rs1064793524PathogenicMicrosatellite
- rs1064793646PathogenicDeletion
- rs1064793797Pathogenicsingle nucleotide variant
- rs1064793853PathogenicDeletion
- rs1064796511Pathogenicsingle nucleotide variant
- rs1064796970Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs1173061992Pathogenicsingle nucleotide variant
- rs1202939879Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs121964862Pathogenicsingle nucleotide variantTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs137853977PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137853982PathogenicDuplicationTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137853983PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137853993PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137853995Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854001PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854015PathogenicDuplicationTuberous sclerosis syndrome
- rs137854020PathogenicDuplicationTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854023PathogenicDuplicationTuberous sclerosis syndrome
- rs137854028PathogenicDeletionTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome
- rs137854050PathogenicDeletionTuberous sclerosis syndrome
- rs137854071PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854074Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
- rs137854083PathogenicDeletionTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs137854101Pathogenicsingle nucleotide variantTuberous sclerosis syndrome
- rs137854122PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854155Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854219Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854226Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854250PathogenicDeletionTuberous sclerosis 2|Tuberous sclerosis syndrome
- rs137854312PathogenicDuplicationTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854314PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854317PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854360PathogenicDeletionTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs137854368PathogenicMicrosatelliteTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs1441428144Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs28934872Pathogenicsingle nucleotide variantTuberous sclerosis 2|Lymphangiomyomatosis|Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Lymphangiomyomatosis|Tuberous sclerosis 2|Isolated focal cortical dysplasia type II
- rs367553206Pathogenicsingle nucleotide variant
- rs368710573Pathogenicsingle nucleotide variantTuberous sclerosis 2
- rs397514913Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397514914Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2
- rs397514979Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397515066Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397515170Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397515203Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs397515257Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45438205Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
- rs45448101Pathogenicsingle nucleotide variantTuberous sclerosis syndrome|Tuberous sclerosis 2
Other listed variants
- rs2516735
- rs7190284
- rs13334473
- rs13339195
- rs45443096
- rs45451497
- rs45454398
- rs45455296
- rs45460895
- rs45462194
- rs45465195
- rs45466296
- rs45469099
- rs45469896
- rs45472701
- rs45475793
- rs45477491
- rs45479192
- rs45481704
- rs45483301
- rs45483392
- rs45486196
- rs45487291
- rs45488893
- rs45491698
- rs45493394
- rs45501492
- rs45505405
- rs45506396
- rs45506401
- rs45509791
- rs45512692
- rs45514095
- rs45515894
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.