TSC1 (TSC complex subunit 1) - Rat Genome Database

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Gene: TSC1 (TSC complex subunit 1) Homo sapiens
Analyze
Symbol: TSC1
Name: TSC complex subunit 1
RGD ID: 736947
HGNC Page HGNC:12362
Description: Enables ATPase inhibitor activity; Hsp70 protein binding activity; and Hsp90 protein binding activity. Involved in several processes, including negative regulation of TORC1 signaling; positive regulation of focal adhesion assembly; and protein stabilization. Located in several cellular components, including actin filament; lamellipodium; and lipid droplet. Part of protein folding chaperone complex. Is active in TSC1-TSC2 complex and lysosomal membrane. Implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Biomarker of breast cancer and pleomorphic xanthoastrocytoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hamartin; KIAA0243; LAM; MGC86987; truncated hemartin; TSC; tuberous sclerosis 1; tuberous sclerosis 1 protein; tumor suppressor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389132,891,349 - 132,945,378 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9132,891,348 - 132,946,874 (-)EnsemblGRCh38hg38GRCh38
GRCh379135,766,736 - 135,820,003 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,756,557 - 134,809,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 349132,815,940 - 132,849,574NCBI
Celera9106,308,473 - 106,361,761 (-)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9105,260,658 - 105,313,711 (-)NCBIHuRef
CHM1_19135,917,213 - 135,970,447 (-)NCBICHM1_1
T2T-CHM13v2.09145,103,162 - 145,157,190 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adaptive immune response  (IEA,ISO)
adult locomotory behavior  (ISS)
associative learning  (IEA)
cardiac muscle cell differentiation  (IEA,ISO)
cell population proliferation  (IEA,ISO)
cell projection organization  (IEA,ISO)
cell-matrix adhesion  (IMP)
cellular response to decreased oxygen levels  (ISS)
cellular response to starvation  (IDA)
cerebral cortex development  (IEA,ISO)
glucose import  (IEA,ISO)
hippocampus development  (IEA,ISO)
kidney development  (IEA,ISO)
memory T cell differentiation  (IEA,ISO)
myelination  (IEA,ISO)
negative regulation of cell population proliferation  (IBA,IEA,IMP,ISO)
negative regulation of cell size  (IEA,ISO)
negative regulation of cellular response to oxidative stress  (ISO)
negative regulation of GTPase activity  (ISO)
negative regulation of macroautophagy  (ISS)
negative regulation of neuron projection development  (ISO)
negative regulation of TOR signaling  (IBA,IDA,IEA,IMP,ISS)
negative regulation of TORC1 signaling  (IDA)
negative regulation of translation  (IMP)
nervous system development  (IEA,ISO)
neural tube closure  (IEA,ISO)
positive regulation of focal adhesion assembly  (IDA)
positive regulation of macroautophagy  (ISO)
positive regulation of stress fiber assembly  (ISO)
potassium ion transport  (IEA,ISO)
protein stabilization  (IDA,IEA,IMP)
regulation of cell cycle  (IBA,IEA)
regulation of cell-matrix adhesion  (IMP)
regulation of focal adhesion assembly  (ISO)
regulation of stress fiber assembly  (IDA)
regulation of translation  (IDA)
response to insulin  (IDA)
response to nutrient levels  (ISO)
response to peptide  (ISO)
ribosomal subunit export from nucleus  (IMP)
synapse organization  (IEA,ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal morphology of female internal genitalia  (IAGP)
Abnormal social behavior  (IAGP)
Abnormal urinary color  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the lymphatic system  (IAGP)
Achromatic retinal patches  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenoma sebaceum  (IAGP)
Adult onset  (IAGP)
Aggressive behavior  (IAGP)
Angiofibromas  (IAGP)
Anxiety  (IAGP)
Aortic aneurysm  (IAGP)
Ascites  (IAGP)
Astrocytoma  (IAGP)
Astrocytosis  (IAGP)
Atelectasis  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bladder neoplasm  (IAGP)
Breast carcinoma  (IAGP)
Cafe-au-lait spot  (IAGP)
Carcinoid tumor  (IAGP)
Cardiac rhabdomyoma  (IAGP)
Cerebral calcification  (IAGP)
Chest pain  (IAGP)
Chordoma  (IAGP)
Chorioretinal hypopigmentation  (IAGP)
Chronic kidney disease  (IAGP)
Chylopericardium  (IAGP)
Chylothorax  (IAGP)
Cognitive impairment  (IAGP)
Confetti-like hypopigmented macules  (IAGP)
Cortical dysplasia  (IAGP)
Cortical tubers  (IAGP)
Cough  (IAGP)
Craniopharyngioma  (IAGP)
Dental enamel pits  (IAGP)
Depression  (IAGP)
Dyspnea  (IAGP)
Emphysema  (IAGP)
Ependymoma  (IAGP)
Epidermoid cyst  (IAGP)
Epileptic spasm  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Focal cortical dysplasia type II  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal white matter lesions  (IAGP)
Focal-onset seizure  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized abnormality of skin  (IAGP)
Gingival fibromatosis  (IAGP)
Hamartoma  (IAGP)
Hematuria  (IAGP)
Hemimegalencephaly  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hepatic cysts  (IAGP)
Hydrocephalus  (IAGP)
Hyperactivity  (IAGP)
Hyperpigmented/hypopigmented macules  (IAGP)
Hypertension  (IAGP)
Hypomelanotic macule  (IAGP)
Hypothyroidism  (IAGP)
Impulsivity  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Internal hemorrhage  (IAGP)
Keratoconus  (IAGP)
Lymphadenopathy  (IAGP)
Lymphedema  (IAGP)
Macule  (IAGP)
Multiple renal cysts  (IAGP)
Neuroblastoma  (IAGP)
Neurodevelopmental delay  (IAGP)
Noncommunicating hydrocephalus  (IAGP)
Optic atrophy  (IAGP)
Optic nerve glioma  (IAGP)
Ovarian neoplasm  (IAGP)
Pancreatic endocrine tumor  (IAGP)
Parathyroid adenoma  (IAGP)
Parathyroid hyperplasia  (IAGP)
Pheochromocytoma  (IAGP)
Pituitary adenoma  (IAGP)
Pneumothorax  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Poor speech  (IAGP)
Preauricular hair displacement  (IAGP)
Precocious puberty  (IAGP)
Premature chromatid separation  (IAGP)
Primitive neuroectodermal tumor  (IAGP)
Pulmonary infiltrates  (IAGP)
Pulmonary lymphangiomyomatosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal angiomyolipoma  (IAGP)
Renal cell carcinoma  (IAGP)
Renal cortical cysts  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Renal neoplasm  (IAGP)
Repetitive compulsive behavior  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory tract infection  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal astrocytic hamartoma  (IAGP)
Retinal hamartoma  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Shagreen patch  (IAGP)
Skin plaque  (IAGP)
Sleep abnormality  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Status epilepticus  (IAGP)
Subcutaneous nodule  (IAGP)
Subependymal giant-cell astrocytoma  (IAGP)
Subependymal nodules  (IAGP)
Subungual fibromas  (IAGP)
Typified by somatic mosaicism  (IAGP)
Ungual fibroma  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Regulation of mTORC1 by PI3K signaling. Dibble CC and Cantley LC, Trends Cell Biol. 2015 Sep;25(9):545-55. doi: 10.1016/j.tcb.2015.06.002. Epub 2015 Jul 6.
2. Neurogenin 3-directed cre deletion of Tsc1 gene causes pancreatic acinar carcinoma. Ding L, etal., Neoplasia. 2014 Nov 20;16(11):909-17. doi: 10.1016/j.neo.2014.08.010. eCollection 2014 Nov.
3. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Feliciano DM, etal., J Clin Invest. 2011 Apr;121(4):1596-607. doi: 10.1172/JCI44909. Epub 2011 Mar 14.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The preventive effect of liraglutide on the lipotoxic liver injury via increasing autophagy. He Y, etal., Ann Hepatol. 2020 Jan - Feb;19(1):44-52. doi: 10.1016/j.aohep.2019.06.023. Epub 2019 Sep 24.
6. Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: the role of promoter methylation of TSC genes. Jiang WG, etal., Eur J Cancer. 2005 Jul;41(11):1628-36.
7. A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Kobayashi T, etal., Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8762-7. Epub 2001 Jul 3.
8. TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity. Liang MC, etal., Oncogene. 2010 Mar 18;29(11):1588-97. doi: 10.1038/onc.2009.452. Epub 2009 Dec 7.
9. Molecular mechanisms of mTOR-mediated translational control. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
10. Role of insulin, adipocyte hormones, and nutrient-sensing pathways in regulating fuel metabolism and energy homeostasis: a nutritional perspective of diabetes, obesity, and cancer. Marshall S Sci STKE. 2006 Aug 1;2006(346):re7.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
14. Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model. Prabhakar S, etal., Neurobiol Dis. 2015 Oct;82:22-31. doi: 10.1016/j.nbd.2015.04.018. Epub 2015 May 24.
15. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Rendtorff ND, etal., Hum Mutat. 2005 Oct;26(4):374-83.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Inappropriate activation of the TSC/Rheb/mTOR/S6K cassette induces IRS1/2 depletion, insulin resistance, and cell survival deficiencies. Shah OJ, etal., Curr Biol. 2004 Sep 21;14(18):1650-6.
20. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. van Slegtenhorst M, etal., Science. 1997 Aug 8;277(5327):805-8.
21. Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Weber RG, etal., Oncogene. 2007 Feb 15;26(7):1088-97. Epub 2006 Aug 7.
22. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Wong HT, etal., J Med Genet. 2015 Dec;52(12):815-22. doi: 10.1136/jmedgenet-2015-103154. Epub 2015 Sep 25.
23. [Tsc1 promoter methylation rate, mTOR expression in food-induced obese rat hypothalamus]. Zhang L, etal., Sichuan Da Xue Xue Bao Yi Xue Ban. 2015 Jan;46(1):47-50.
24. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. Zhang Y, etal., Neuromolecular Med. 2015 Jun;17(2):202-8. doi: 10.1007/s12017-015-8354-x. Epub 2015 Apr 22.
Additional References at PubMed
PMID:9039502   PMID:9328481   PMID:9580671   PMID:9809973   PMID:9924605   PMID:10227394   PMID:10533067   PMID:10570911   PMID:10585443   PMID:10607950   PMID:10806479   PMID:10807585  
PMID:10915759   PMID:11112665   PMID:11175345   PMID:11290735   PMID:11307618   PMID:11444800   PMID:11686512   PMID:11741832   PMID:11741833   PMID:11774213   PMID:11829138   PMID:12015165  
PMID:12062115   PMID:12112044   PMID:12147258   PMID:12172553   PMID:12176984   PMID:12226091   PMID:12271141   PMID:12477932   PMID:12511557   PMID:12766909   PMID:12773159   PMID:12773162  
PMID:12773163   PMID:12820960   PMID:12842888   PMID:12853839   PMID:12869586   PMID:12894220   PMID:12906785   PMID:14551205   PMID:14559897   PMID:14633685   PMID:14651849   PMID:14680818  
PMID:14756965   PMID:14985384   PMID:15059224   PMID:15072102   PMID:15314020   PMID:15324660   PMID:15340059   PMID:15342917   PMID:15355997   PMID:15477556   PMID:15589136   PMID:15595939  
PMID:15624760   PMID:15647351   PMID:15798777   PMID:15851026   PMID:15851513   PMID:15963462   PMID:16211238   PMID:16258273   PMID:16339216   PMID:16344560   PMID:16424383   PMID:16464865  
PMID:16554133   PMID:16636147   PMID:16897363   PMID:16940165   PMID:16996505   PMID:17043358   PMID:17077083   PMID:17114181   PMID:17273797   PMID:17287951   PMID:17304050   PMID:17308101  
PMID:17353931   PMID:17355907   PMID:17376623   PMID:17378684   PMID:17522300   PMID:17658474   PMID:17693255   PMID:17717601   PMID:17979178   PMID:17997379   PMID:18032745   PMID:18342602  
PMID:18368626   PMID:18381890   PMID:18397877   PMID:18411301   PMID:18413730   PMID:18466115   PMID:18480009   PMID:18538015   PMID:18692468   PMID:18772611   PMID:18794342   PMID:18794346  
PMID:18830229   PMID:18926585   PMID:19005330   PMID:19058789   PMID:19169254   PMID:19175396   PMID:19357198   PMID:19419980   PMID:19422538   PMID:19608861   PMID:19747374   PMID:19918125  
PMID:20054236   PMID:20146692   PMID:20166753   PMID:20169078   PMID:20185476   PMID:20301399   PMID:20368287   PMID:20371605   PMID:20383465   PMID:20412061   PMID:20453000   PMID:20547222  
PMID:20562859   PMID:20605525   PMID:20658316   PMID:20819778   PMID:20877415   PMID:21048031   PMID:21134130   PMID:21243421   PMID:21309039   PMID:21329690   PMID:21345208   PMID:21412983  
PMID:21449900   PMID:21559457   PMID:21653829   PMID:21709159   PMID:21712385   PMID:21784859   PMID:21873635   PMID:22025691   PMID:22161988   PMID:22490766   PMID:22608477   PMID:22658674  
PMID:22795129   PMID:22903760   PMID:22923433   PMID:23169238   PMID:23254740   PMID:23275563   PMID:23389244   PMID:23401075   PMID:23455924   PMID:23472066   PMID:23788249   PMID:23793025  
PMID:23846400   PMID:23851502   PMID:23857276   PMID:23878397   PMID:23891004   PMID:24073910   PMID:24077282   PMID:24477276   PMID:24529379   PMID:24529380   PMID:24599401   PMID:24615476  
PMID:24633152   PMID:24722188   PMID:24770722   PMID:25209900   PMID:25263562   PMID:25434723   PMID:25498131   PMID:25565629   PMID:25796537   PMID:25814554   PMID:25889454   PMID:25915427  
PMID:25927202   PMID:26186194   PMID:26296742   PMID:26318033   PMID:26393489   PMID:26412398   PMID:26496610   PMID:26540169   PMID:26728384   PMID:26831717   PMID:26873267   PMID:26893383  
PMID:26943237   PMID:27060308   PMID:27112935   PMID:27470532   PMID:27494029   PMID:27516388   PMID:27516389   PMID:27845047   PMID:27859028   PMID:27880917   PMID:27974549   PMID:28041914  
PMID:28065512   PMID:28178598   PMID:28205554   PMID:28215400   PMID:28302097   PMID:28319085   PMID:28319113   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28718761   PMID:28762286  
PMID:28800130   PMID:28968464   PMID:29127155   PMID:29185092   PMID:29196670   PMID:29261847   PMID:29378913   PMID:29419853   PMID:29467282   PMID:29476190   PMID:29509190   PMID:29559472  
PMID:29642139   PMID:29740858   PMID:29803333   PMID:29897930   PMID:29926239   PMID:29932062   PMID:29941307   PMID:29960980   PMID:29975249   PMID:30021884   PMID:30087333   PMID:30127391  
PMID:30190613   PMID:30232004   PMID:30237309   PMID:30327302   PMID:30514904   PMID:30518907   PMID:30639242   PMID:30733194   PMID:30773093   PMID:30794603   PMID:30842342   PMID:31024071  
PMID:31291687   PMID:31525612   PMID:31586073   PMID:31598936   PMID:31741433   PMID:31850909   PMID:31855466   PMID:31856217   PMID:31871319   PMID:31927531   PMID:31958214   PMID:31975504  
PMID:32091432   PMID:32103336   PMID:32296183   PMID:32313033   PMID:32423001   PMID:32513696   PMID:32555378   PMID:32610114   PMID:32617785   PMID:32647919   PMID:32694731   PMID:32707033  
PMID:32735081   PMID:32877691   PMID:32889144   PMID:32917966   PMID:32921582   PMID:33382472   PMID:33436626   PMID:33575875   PMID:33612456   PMID:33658012   PMID:33834258   PMID:33916271  
PMID:33961781   PMID:34079125   PMID:34131293   PMID:34328706   PMID:34432599   PMID:34480426   PMID:34520980   PMID:34573383   PMID:34672954   PMID:34680979   PMID:34728310   PMID:34756499  
PMID:34860161   PMID:35099634   PMID:35119931   PMID:35182466   PMID:35271311   PMID:35563538   PMID:36348010   PMID:36359803   PMID:36517590   PMID:36592877   PMID:36719021   PMID:36727758  
PMID:37020385   PMID:37232246   PMID:37689310   PMID:37774976   PMID:37827155   PMID:37949232  


Genomics

Comparative Map Data
TSC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389132,891,349 - 132,945,378 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9132,891,348 - 132,946,874 (-)EnsemblGRCh38hg38GRCh38
GRCh379135,766,736 - 135,820,003 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369134,756,557 - 134,809,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 349132,815,940 - 132,849,574NCBI
Celera9106,308,473 - 106,361,761 (-)NCBICelera
Cytogenetic Map9q34.13NCBI
HuRef9105,260,658 - 105,313,711 (-)NCBIHuRef
CHM1_19135,917,213 - 135,970,447 (-)NCBICHM1_1
T2T-CHM13v2.09145,103,162 - 145,157,190 (-)NCBIT2T-CHM13v2.0
Tsc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39228,531,005 - 28,581,183 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl228,531,240 - 28,581,179 (+)EnsemblGRCm39 Ensembl
GRCm38228,640,993 - 28,691,172 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl228,641,228 - 28,691,167 (+)EnsemblGRCm38mm10GRCm38
MGSCv37228,496,763 - 28,546,687 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36228,463,252 - 28,513,176 (+)NCBIMGSCv36mm8
Celera228,345,749 - 28,395,673 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.38NCBI
Tsc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8332,367,434 - 32,416,565 (+)NCBIGRCr8
mRatBN7.2311,969,547 - 12,018,591 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl311,979,729 - 12,015,674 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx315,059,218 - 15,086,859 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0323,644,177 - 23,671,817 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0321,898,622 - 21,926,266 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.037,219,955 - 7,269,063 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl37,237,192 - 7,265,145 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0312,570,765 - 12,619,753 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.437,645,313 - 7,672,944 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.137,645,612 - 7,673,244 (+)NCBI
Celera36,767,562 - 6,795,193 (+)NCBICelera
Cytogenetic Map3p12NCBI
Tsc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555132,197,037 - 2,244,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555132,197,037 - 2,244,992 (-)NCBIChiLan1.0ChiLan1.0
TSC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2116,414,619 - 6,468,611 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan196,415,528 - 6,470,948 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09104,007,708 - 104,060,938 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19132,638,003 - 132,692,264 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9132,638,003 - 132,675,759 (-)Ensemblpanpan1.1panPan2
TSC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1951,409,307 - 51,459,546 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl951,425,937 - 51,454,677 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha950,673,940 - 50,724,548 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0952,304,134 - 52,354,724 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl952,304,753 - 52,354,693 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1951,082,516 - 51,133,112 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0951,407,015 - 51,457,594 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0951,486,514 - 51,537,117 (+)NCBIUU_Cfam_GSD_1.0
Tsc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,562,656 - 199,618,374 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648719,331,194 - 19,386,892 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648719,331,183 - 19,386,841 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1272,636,532 - 272,685,951 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11272,636,530 - 272,685,948 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21306,795,196 - 306,819,962 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1125,195,604 - 5,249,042 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl125,195,675 - 5,244,157 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607910,396,791 - 10,450,324 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tsc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247603,498,692 - 3,532,011 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247603,479,028 - 3,536,612 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSC1
3885 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568773]|Tuberous sclerosis 1 [RCV000531630]|not specified [RCV000612501] Chr9:132907338 [GRCh38]
Chr9:135782725 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val) single nucleotide variant Tuberous sclerosis 1 [RCV000542540] Chr9:132897591 [GRCh38]
Chr9:135772978 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.295C>T (p.Leu99=) single nucleotide variant Tuberous sclerosis 1 [RCV001494627] Chr9:132925655 [GRCh38]
Chr9:135801042 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs) duplication Tuberous sclerosis 1 [RCV003319365]|not provided [RCV000517201] Chr9:132921818..132921819 [GRCh38]
Chr9:135797205..135797206 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.524T>C (p.Val175Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023799]|Tuberous sclerosis 1 [RCV000546386] Chr9:132921958 [GRCh38]
Chr9:135797345 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384146]|Tuberous sclerosis 1 [RCV000546518]|not provided [RCV003227784] Chr9:132907336 [GRCh38]
Chr9:135782723 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564995]|Tuberous sclerosis 1 [RCV001363375] Chr9:132925594 [GRCh38]
Chr9:135800981 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567662]|Tuberous sclerosis 1 [RCV001836841] Chr9:132907351 [GRCh38]
Chr9:135782738 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257779]|Tuberous sclerosis 1 [RCV000694959]|not provided [RCV000520247] Chr9:132928850 [GRCh38]
Chr9:135804237 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323975]|Tuberous sclerosis 1 [RCV000553116] Chr9:132896485 [GRCh38]
Chr9:135771872 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1944G>A (p.Val648=) single nucleotide variant Tuberous sclerosis 1 [RCV000544277] Chr9:132905634 [GRCh38]
Chr9:135781021 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302838]|Tuberous sclerosis 1 [RCV000544315] Chr9:132896334 [GRCh38]
Chr9:135771721 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002316554]|Isolated focal cortical dysplasia type II [RCV003476284]|Tuberous sclerosis 1 [RCV000525091] Chr9:132896707 [GRCh38]
Chr9:135772094 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565729]|Tuberous sclerosis 1 [RCV000642001] Chr9:132896618 [GRCh38]
Chr9:135772005 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1141+10T>C single nucleotide variant TSC1-related condition [RCV003935456]|Tuberous sclerosis 1 [RCV000547758]|not specified [RCV001288539] Chr9:132910992 [GRCh38]
Chr9:135786379 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564340]|Tuberous sclerosis 1 [RCV001853804] Chr9:132896603 [GRCh38]
Chr9:135771990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.737+10C>T single nucleotide variant Tuberous sclerosis 1 [RCV000530288] Chr9:132921353 [GRCh38]
Chr9:135796740 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319533]|Tuberous sclerosis 1 [RCV000544888] Chr9:132896650 [GRCh38]
Chr9:135772037 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565384]|Tuberous sclerosis 1 [RCV000539845] Chr9:132897481 [GRCh38]
Chr9:135772868 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302836]|Tuberous sclerosis 1 [RCV000547920] Chr9:132903788 [GRCh38]
Chr9:135779175 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258952]|Lymphangiomyomatosis [RCV002506340]|TSC1-related condition [RCV003983115]|Tuberous sclerosis 1 [RCV000525879] Chr9:132896683 [GRCh38]
Chr9:135772070 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567125]|Tuberous sclerosis 1 [RCV000535112] Chr9:132905806 [GRCh38]
Chr9:135781193 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562966]|Tuberous sclerosis 1 [RCV001859978] Chr9:132896421 [GRCh38]
Chr9:135771808 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001851470]|not provided [RCV000516494] Chr9:132907371 [GRCh38]
Chr9:135782758 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016536]|Tuberous sclerosis 1 [RCV000532883] Chr9:132897470 [GRCh38]
Chr9:135772857 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000546303] Chr9:132897274 [GRCh38]
Chr9:135772661 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563861]|Tuberous sclerosis 1 [RCV000540458]|not specified [RCV001001079] Chr9:132896493 [GRCh38]
Chr9:135771880 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2517G>A (p.Glu839=) single nucleotide variant Tuberous sclerosis 1 [RCV000553825] Chr9:132900823 [GRCh38]
Chr9:135776210 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1779A>G (p.Arg593=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013147]|Tuberous sclerosis 1 [RCV000543019]|not specified [RCV000612611] Chr9:132905799 [GRCh38]
Chr9:135781186 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.213C>A (p.His71Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569428]|Tuberous sclerosis 1 [RCV000541870] Chr9:132925737 [GRCh38]
Chr9:135801124 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1144G>A (p.Gly382Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000526191] Chr9:132910690 [GRCh38]
Chr9:135786077 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023453]|Isolated focal cortical dysplasia type II [RCV003476285]|Tuberous sclerosis 1 [RCV000529494]|not provided [RCV001653899] Chr9:132923353 [GRCh38]
Chr9:135798740 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003159830]|Tuberous sclerosis 1 [RCV000551943] Chr9:132928780 [GRCh38]
Chr9:135804167 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562317]|Tuberous sclerosis 1 [RCV001859977] Chr9:132900720 [GRCh38]
Chr9:135776107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332194]|TSC1-related condition [RCV003403292]|Tuberous sclerosis 1 [RCV000529738]|not provided [RCV000760377] Chr9:132900816 [GRCh38]
Chr9:135776203 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572442]|Tuberous sclerosis 1 [RCV001079246]|not provided [RCV000762583] Chr9:132896357 [GRCh38]
Chr9:135771744 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) deletion Hereditary cancer-predisposing syndrome [RCV001012259]|Tuberous sclerosis 1 [RCV000552726]|not provided [RCV001550423] Chr9:132905976..132905996 [GRCh38]
Chr9:135781363..135781383 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs) deletion Tuberous sclerosis 1 [RCV000555253] Chr9:132902761..132902765 [GRCh38]
Chr9:135778148..135778152 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002371858]|Tuberous sclerosis 1 [RCV000814745]|Tuberous sclerosis syndrome [RCV000042003] Chr9:132907362..132907363 [GRCh38]
Chr9:135782749..135782750 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) indel Hereditary cancer-predisposing syndrome [RCV003162558]|Isolated focal cortical dysplasia type II [RCV003474734]|Tuberous sclerosis 1 [RCV001040743]|not specified [RCV000122187] Chr9:132907351..132907352 [GRCh38]
Chr9:135782738..135782739 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) indel Hereditary cancer-predisposing syndrome [RCV000566373]|Tuberous sclerosis 1 [RCV000468584]|not specified [RCV000122193] Chr9:132897570..132897571 [GRCh38]
Chr9:135772957..135772958 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3168_3171delinsGGTG (p.Gly1057Val) indel not specified [RCV000122194] Chr9:132896559..132896562 [GRCh38]
Chr9:135771946..135771949 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395389]|Isolated focal cortical dysplasia type II [RCV003476282]|Tuberous sclerosis 1 [RCV000542508] Chr9:132906739 [GRCh38]
Chr9:135782126 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.792G>A (p.Leu264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257897]|Tuberous sclerosis 1 [RCV000642028] Chr9:132912403 [GRCh38]
Chr9:135787790 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.106+2T>C single nucleotide variant Tuberous sclerosis 1 [RCV000642031] Chr9:132928765 [GRCh38]
Chr9:135804152 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1738A>G (p.Ile580Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397232]|Tuberous sclerosis 1 [RCV000642037] Chr9:132905840 [GRCh38]
Chr9:135781227 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000642052] Chr9:132896521 [GRCh38]
Chr9:135771908 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3489C>T (p.His1163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458065]|Tuberous sclerosis 1 [RCV000642056] Chr9:132896241 [GRCh38]
Chr9:135771628 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303034]|Lymphangiomyomatosis [RCV002499079]|Tuberous sclerosis 1 [RCV000641962] Chr9:132896587 [GRCh38]
Chr9:135771974 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1130_1131del (p.Phe377fs) deletion Tuberous sclerosis 1 [RCV000641978] Chr9:132911012..132911013 [GRCh38]
Chr9:135786399..135786400 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013355]|Tuberous sclerosis 1 [RCV000641990] Chr9:132905723 [GRCh38]
Chr9:135781110 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1148G>A (p.Gly383Glu) single nucleotide variant Tuberous sclerosis 1 [RCV000642008] Chr9:132910686 [GRCh38]
Chr9:135786073 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1125dup (p.Val376fs) duplication not provided [RCV000517910] Chr9:132911017..132911018 [GRCh38]
Chr9:135786404..135786405 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs) indel not provided [RCV000518417] Chr9:132923401..132923405 [GRCh38]
Chr9:135798788..135798792 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2778G>A (p.Gln926=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438381]|Tuberous sclerosis 1 [RCV000545375] Chr9:132897458 [GRCh38]
Chr9:135772845 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420444]|Tuberous sclerosis 1 [RCV001079196]|not provided [RCV000595767] Chr9:132903748 [GRCh38]
Chr9:135779135 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.211-7T>G single nucleotide variant not provided [RCV000516251] Chr9:132925746 [GRCh38]
Chr9:135801133 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563053]|Tuberous sclerosis 1 [RCV001408629] Chr9:132900832 [GRCh38]
Chr9:135776219 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404456]|Tuberous sclerosis 1 [RCV000545756] Chr9:132905952 [GRCh38]
Chr9:135781339 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1269G>A (p.Glu423=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377088]|Tuberous sclerosis 1 [RCV000542850] Chr9:132907365 [GRCh38]
Chr9:135782752 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.65G>A (p.Arg22Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377089]|Tuberous sclerosis 1 [RCV000542889] Chr9:132928808 [GRCh38]
Chr9:135804195 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323976]|Tuberous sclerosis 1 [RCV000543231]|not provided [RCV001731763] Chr9:132896374 [GRCh38]
Chr9:135771761 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013533]|Tuberous sclerosis 1 [RCV000542404]|not provided [RCV001731762] Chr9:132905694 [GRCh38]
Chr9:135781081 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567937]|Tuberous sclerosis 1 [RCV000988275] Chr9:132902715 [GRCh38]
Chr9:135778102 [GRCh37]
Chr9:9q34.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019199]|Tuberous sclerosis 1 [RCV000547456] Chr9:132896530 [GRCh38]
Chr9:135771917 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln) indel Hereditary cancer-predisposing syndrome [RCV003302834]|Tuberous sclerosis 1 [RCV000525430] Chr9:132905693..132905694 [GRCh38]
Chr9:135781080..135781081 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572956]|Tuberous sclerosis 1 [RCV001086734]|not provided [RCV000713912] Chr9:132911565 [GRCh38]
Chr9:135786952 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.848C>T (p.Ala283Val) single nucleotide variant Ovarian cancer [RCV003153711]|Tuberous sclerosis 1 [RCV000525964] Chr9:132912347 [GRCh38]
Chr9:135787734 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564806]|TSC1-related condition [RCV003945355]|Tuberous sclerosis 1 [RCV000642049]|not provided [RCV003237943] Chr9:132896623 [GRCh38]
Chr9:135772010 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1489G>A (p.Val497Met) single nucleotide variant Tuberous sclerosis 1 [RCV000526711] Chr9:132906089 [GRCh38]
Chr9:135781476 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011114]|Tuberous sclerosis 1 [RCV000549232] Chr9:132906831 [GRCh38]
Chr9:135782218 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1530C>T (p.Asp510=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395391]|Tuberous sclerosis 1 [RCV001466647] Chr9:132906048 [GRCh38]
Chr9:135781435 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009796]|Tuberous sclerosis 1 [RCV000795024]|not provided [RCV001722439] Chr9:132911080 [GRCh38]
Chr9:135786467 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) single nucleotide variant Tuberous sclerosis 1 [RCV001482785] Chr9:132902710 [GRCh38]
Chr9:135778097 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010403]|TSC1-related condition [RCV003424114]|Tuberous sclerosis 1 [RCV000525235] Chr9:132927290 [GRCh38]
Chr9:135802677 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016081]|Tuberous sclerosis 1 [RCV000543123] Chr9:132900736 [GRCh38]
Chr9:135776123 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2148C>T (p.Asn716=) single nucleotide variant Tuberous sclerosis 1 [RCV000530354] Chr9:132903711 [GRCh38]
Chr9:135779098 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561767]|Tuberous sclerosis 1 [RCV000697551] Chr9:132928830 [GRCh38]
Chr9:135804217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-3T>C single nucleotide variant Tuberous sclerosis 1 [RCV000552922] Chr9:132900840 [GRCh38]
Chr9:135776227 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2812A>C (p.Arg938=) single nucleotide variant Tuberous sclerosis 1 [RCV000553281] Chr9:132897424 [GRCh38]
Chr9:135772811 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567045]|Tuberous sclerosis 1 [RCV000547421] Chr9:132901679 [GRCh38]
Chr9:135777066 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564766]|Tuberous sclerosis 1 [RCV001510606]|not provided [RCV003237944] Chr9:132896477 [GRCh38]
Chr9:135771864 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562217]|Tuberous sclerosis 1 [RCV000527076] Chr9:132896545 [GRCh38]
Chr9:135771932 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.236A>G (p.Tyr79Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000550161] Chr9:132925714 [GRCh38]
Chr9:135801101 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013813]|TSC1-related condition [RCV003419955]|Tuberous sclerosis 1 [RCV000545216] Chr9:132905603 [GRCh38]
Chr9:135780990 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003352915]|Tuberous sclerosis 1 [RCV000531464] Chr9:132896662 [GRCh38]
Chr9:135772049 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420443]|Tuberous sclerosis 1 [RCV000528471]|not provided [RCV002269285] Chr9:132903788 [GRCh38]
Chr9:135779175 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000988280]|not provided [RCV000523245] Chr9:132923364 [GRCh38]
Chr9:135798751 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2626-4_2626-3insTC insertion Hereditary cancer-predisposing syndrome [RCV002255445]|Tuberous sclerosis 1 [RCV000548607] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2982C>T (p.Asp994=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017763]|Tuberous sclerosis 1 [RCV000528724] Chr9:132896748 [GRCh38]
Chr9:135772135 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570579]|Tuberous sclerosis 1 [RCV000550669]|not provided [RCV001584282] Chr9:132925602 [GRCh38]
Chr9:135800989 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017287]|Tuberous sclerosis 1 [RCV000548696] Chr9:132911044 [GRCh38]
Chr9:135786431 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2208+10G>T single nucleotide variant Tuberous sclerosis 1 [RCV000542809] Chr9:132903641 [GRCh38]
Chr9:135779028 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs) microsatellite Tuberous sclerosis 1 [RCV000005403]|Tuberous sclerosis syndrome [RCV000042099]|not provided [RCV000189868] Chr9:132905687..132905690 [GRCh38]
Chr9:135781074..135781077 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000005404]|Tuberous sclerosis syndrome [RCV000042356] Chr9:132912446 [GRCh38]
Chr9:135787833 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163265]|Isolated focal cortical dysplasia type II [RCV000303027]|Tuberous sclerosis 1 [RCV000005405]|Tuberous sclerosis syndrome [RCV000042078]|not provided [RCV000224245]|not specified [RCV000118691] Chr9:132905818 [GRCh38]
Chr9:135781205 [GRCh37]
Chr9:9q34.13		 pathogenic|benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) microsatellite Hereditary cancer-predisposing syndrome [RCV003162210]|Tuberous sclerosis 1 [RCV000005406]|Tuberous sclerosis syndrome [RCV000042102]|not provided [RCV000713907] Chr9:132905673..132905674 [GRCh38]
Chr9:135781060..135781061 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.4(TSC1):c.1671_1693del23 (p.Ser561Argfs) deletion Tuberous sclerosis 1 [RCV000005407]|Tuberous sclerosis syndrome [RCV000042059] Chr9:132905885..132905907 [GRCh38]
Chr9:135781272..135781294 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.495C>A (p.Cys165Ter) single nucleotide variant Lymphangiomyomatosis [RCV000005408] Chr9:132923361 [GRCh38]
Chr9:135798748 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) single nucleotide variant Focal cortical dysplasia of Taylor type 2B [RCV000005409]|Hereditary cancer-predisposing syndrome [RCV000129684]|Isolated focal cortical dysplasia type II [RCV000278906]|Tuberous sclerosis 1 [RCV000005410]|Tuberous sclerosis syndrome [RCV000054851]|not provided [RCV000034607]|not specified [RCV000118692] Chr9:132903665 [GRCh38]
Chr9:135779052 [GRCh37]
Chr9:9q34.13		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records|not provided
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000005411]|Tuberous sclerosis syndrome [RCV000042336] Chr9:132921429 [GRCh38]
Chr9:135796816 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000005412]|Tuberous sclerosis syndrome [RCV000042306] Chr9:132921943 [GRCh38]
Chr9:135797330 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2626-4T[17_21] microsatellite Malignant tumor of urinary bladder [RCV000054873]|Tuberous sclerosis syndrome [RCV000054890]   not provided
NM_000368.5(TSC1):c.-80-51del deletion Tuberous sclerosis syndrome [RCV000054892] Chr9:132929003 [GRCh38]
Chr9:135804390 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.914-88_914-58T(27_30) microsatellite not provided [RCV000054893] Chr9:132911626 [GRCh38]
Chr9:135787013 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.2626_2975del deletion Tuberous sclerosis syndrome [RCV000054938] Chr9:9q34 not provided
NM_000368.4(TSC1):c.2626_3495del deletion Tuberous sclerosis syndrome [RCV000054951] Chr9:9q34 not provided
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.989_990del (p.Leu330fs) deletion Tuberous sclerosis 1 [RCV000201052]|Tuberous sclerosis syndrome [RCV000042389] Chr9:132911492..132911493 [GRCh38]
Chr9:135786879..135786880 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.989dup (p.Ser331fs) duplication Hereditary cancer-predisposing syndrome [RCV000491374]|Renal insufficiency [RCV000414909]|Tuberous sclerosis 1 [RCV000201139]|Tuberous sclerosis syndrome [RCV000042390]|not provided [RCV000189866] Chr9:132911492..132911493 [GRCh38]
Chr9:135786879..135786880 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.994_995insA (p.Ser332fs) insertion Tuberous sclerosis syndrome [RCV000042391] Chr9:132911487..132911488 [GRCh38]
Chr9:135786874..135786875 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.278T>G (p.Leu93Arg) single nucleotide variant Tuberous sclerosis syndrome [RCV000042252] Chr9:132925672 [GRCh38]
Chr9:135801059 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001253033]|Tuberous sclerosis syndrome [RCV000042253]|not provided [RCV000760329] Chr9:132897430 [GRCh38]
Chr9:135772817 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.2813_2813+4del deletion Tuberous sclerosis syndrome [RCV000042254] Chr9:132897419..132897423 [GRCh38]
Chr9:135772806..135772810 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2813+3_2813+21del deletion Tuberous sclerosis syndrome [RCV000042255] Chr9:132897402..132897420 [GRCh38]
Chr9:135772789..135772807 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2814-27A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000042256] Chr9:132897372 [GRCh38]
Chr9:135772759 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162946]|Isolated focal cortical dysplasia type II [RCV000370584]|Lymphangiomyomatosis [RCV000055028]|Malignant tumor of urinary bladder [RCV000054906]|Tuberous sclerosis 1 [RCV000576543]|Tuberous sclerosis syndrome [RCV000042257]|not provided [RCV000590200]|not specified [RCV000118693] Chr9:132897330 [GRCh38]
Chr9:135772717 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000368.5(TSC1):c.2830_2831insGCCTG (p.Ala944fs) insertion Tuberous sclerosis syndrome [RCV000042258] Chr9:132897328..132897329 [GRCh38]
Chr9:135772715..135772716 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163343]|Isolated focal cortical dysplasia type II [RCV000274884]|Lymphangiomyomatosis [RCV002496670]|Tuberous sclerosis 1 [RCV000205209]|Tuberous sclerosis syndrome [RCV000042259]|not provided [RCV001725957]|not specified [RCV000152157] Chr9:132897294 [GRCh38]
Chr9:135772681 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.2976-43G>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042260]|not provided [RCV001538286] Chr9:132896797 [GRCh38]
Chr9:135772184 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.2976-54G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042261] Chr9:132896808 [GRCh38]
Chr9:135772195 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.3030G>T (p.Glu1010Asp) single nucleotide variant Malignant tumor of urinary bladder [RCV000042262] Chr9:132896700 [GRCh38]
Chr9:135772087 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.308G>A (p.Trp103Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001852866]|Tuberous sclerosis syndrome [RCV000042263] Chr9:132925642 [GRCh38]
Chr9:135801029 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.309G>A (p.Trp103Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001380988]|Tuberous sclerosis syndrome [RCV000042264] Chr9:132925641 [GRCh38]
Chr9:135801028 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) microsatellite Hereditary cancer-predisposing syndrome [RCV002256021]|TSC1-related condition [RCV003924996]|Tuberous sclerosis 1 [RCV000465677]|Tuberous sclerosis syndrome [RCV000042265]|not provided [RCV001703928] Chr9:132896600..132896601 [GRCh38]
Chr9:135771987..135771988 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563572]|Isolated focal cortical dysplasia type II [RCV001167647]|TSC1-related condition [RCV003915005]|Tuberous sclerosis 1 [RCV000227692]|Tuberous sclerosis syndrome [RCV000042266]|not provided [RCV001093203]|not specified [RCV000189827] Chr9:132896546 [GRCh38]
Chr9:135771933 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256022]|Lymphangiomyomatosis [RCV000042267]|TSC1-related condition [RCV003952466]|Tuberous sclerosis 1 [RCV000473374]|not specified [RCV000189828] Chr9:132896535 [GRCh38]
Chr9:135771922 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=) single nucleotide variant Tuberous sclerosis 1 [RCV001444593]|Tuberous sclerosis syndrome [RCV000042268] Chr9:132896514 [GRCh38]
Chr9:135771901 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162355]|Tuberous sclerosis syndrome [RCV000042269] Chr9:132896499 [GRCh38]
Chr9:135771886 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130762]|Isolated focal cortical dysplasia type II [RCV000347399]|Tuberous sclerosis 1 [RCV000204589]|Tuberous sclerosis syndrome [RCV000042270]|not provided [RCV001711158]|not specified [RCV000825092] Chr9:132896448 [GRCh38]
Chr9:135771835 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565824]|Tuberous sclerosis 1 [RCV000541570]|Tuberous sclerosis syndrome [RCV000042271]|not provided [RCV001675599] Chr9:132896440 [GRCh38]
Chr9:135771827 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163601]|Malignant tumor of urinary bladder [RCV000054986]|Tuberous sclerosis 1 [RCV000458280]|Tuberous sclerosis syndrome [RCV000042272]|not provided [RCV001697036]|not specified [RCV000438214] Chr9:132896427 [GRCh38]
Chr9:135771814 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019987]|Tuberous sclerosis 1 [RCV001085186]|Tuberous sclerosis syndrome [RCV000042273]|not provided [RCV000842684] Chr9:132896409 [GRCh38]
Chr9:135771796 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019989]|Tuberous sclerosis 1 [RCV000642032]|Tuberous sclerosis syndrome [RCV000042274]|not specified [RCV000189829] Chr9:132896408 [GRCh38]
Chr9:135771795 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163278]|Isolated focal cortical dysplasia type II [RCV000344276]|Malignant tumor of urinary bladder [RCV000054911]|Tuberous sclerosis 1 [RCV000206605]|Tuberous sclerosis syndrome [RCV000042275]|not provided [RCV000588693]|not specified [RCV000118694] Chr9:132896406 [GRCh38]
Chr9:135771793 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.334_335dup (p.Leu113fs) microsatellite Tuberous sclerosis syndrome [RCV000042276] Chr9:132925614..132925615 [GRCh38]
Chr9:135801001..135801002 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.338del (p.Leu113fs) deletion Tuberous sclerosis syndrome [RCV000042277] Chr9:132925612 [GRCh38]
Chr9:135800999 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001068129]|Tuberous sclerosis syndrome [RCV000042278] Chr9:132925600 [GRCh38]
Chr9:135800987 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.362A>G (p.Lys121Arg) single nucleotide variant Tuberous sclerosis syndrome [RCV000042279] Chr9:132925588 [GRCh38]
Chr9:135800975 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.363+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV000812045]|Tuberous sclerosis syndrome [RCV000042280] Chr9:132925586 [GRCh38]
Chr9:135800973 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.363+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV001378743]|Tuberous sclerosis syndrome [RCV000042281] Chr9:132925586 [GRCh38]
Chr9:135800973 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.363+1dup duplication Tuberous sclerosis syndrome [RCV000042282] Chr9:132925585..132925586 [GRCh38]
Chr9:135800972..135800973 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.363+47T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042283] Chr9:132925540 [GRCh38]
Chr9:135800927 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.363+5G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042284] Chr9:132925582 [GRCh38]
Chr9:135800969 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.363G>A (p.Lys121=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042285] Chr9:132925587 [GRCh38]
Chr9:135800974 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.364-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001210529]|Tuberous sclerosis syndrome [RCV000042286] Chr9:132923493 [GRCh38]
Chr9:135798880 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.372dup (p.Asp125Ter) duplication Tuberous sclerosis syndrome [RCV000042287] Chr9:132923483..132923484 [GRCh38]
Chr9:135798870..135798871 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.379_381delGTT (p.Val128del) deletion Tuberous sclerosis syndrome [RCV000042288] Chr9:132923475..132923477 [GRCh38]
Chr9:135798862..135798864 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.381_383del (p.Val128del) deletion Tuberous sclerosis 1 [RCV001046803]|Tuberous sclerosis syndrome [RCV000042289] Chr9:132923473..132923475 [GRCh38]
Chr9:135798860..135798862 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance|not provided
NM_000368.5(TSC1):c.395_406delinsCA (p.Gly132fs) indel Tuberous sclerosis 1 [RCV000467664]|Tuberous sclerosis syndrome [RCV000042290] Chr9:132923450..132923461 [GRCh38]
Chr9:135798837..135798848 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.397G>T (p.Val133Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001214207]|Tuberous sclerosis syndrome [RCV000042291] Chr9:132923459 [GRCh38]
Chr9:135798846 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.433C>T (p.Gln145Ter) single nucleotide variant TSC1-related condition [RCV003894875]|Tuberous sclerosis 1 [RCV003505089]|Tuberous sclerosis syndrome [RCV000042292] Chr9:132923423 [GRCh38]
Chr9:135798810 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.433_434del (p.Gln145fs) microsatellite Tuberous sclerosis syndrome [RCV000042293] Chr9:132923422..132923423 [GRCh38]
Chr9:135798809..135798810 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.445C>T (p.Gln149Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000552517]|Tuberous sclerosis syndrome [RCV000042294] Chr9:132923411 [GRCh38]
Chr9:135798798 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.473T>G (p.Phe158Cys) single nucleotide variant Malignant tumor of urinary bladder [RCV000042295] Chr9:132923383 [GRCh38]
Chr9:135798770 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.489A>T (p.Ser163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298085]|Malignant tumor of urinary bladder [RCV000042296]|Tuberous sclerosis 1 [RCV001483866] Chr9:132923367 [GRCh38]
Chr9:135798754 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter) single nucleotide variant Lymphangiomyomatosis [RCV000042297]|not provided [RCV000189835] Chr9:132923365 [GRCh38]
Chr9:135798752 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.504del (p.Lys168fs) deletion Tuberous sclerosis syndrome [RCV000042299] Chr9:132923352 [GRCh38]
Chr9:135798739 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.508+1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001064764]|Tuberous sclerosis syndrome [RCV000042300] Chr9:132923347 [GRCh38]
Chr9:135798734 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.509-15G>A single nucleotide variant Tuberous sclerosis 1 [RCV001852867]|Tuberous sclerosis syndrome [RCV000042301]|not specified [RCV000616375] Chr9:132921988 [GRCh38]
Chr9:135797375 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.520G>T (p.Glu174Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042302] Chr9:132921962 [GRCh38]
Chr9:135797349 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.524dup (p.Tyr176fs) duplication Malignant tumor of urinary bladder [RCV000042303] Chr9:132921957..132921958 [GRCh38]
Chr9:135797344..135797345 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.527_528del (p.Tyr176fs) deletion Tuberous sclerosis syndrome [RCV000042304] Chr9:132921954..132921955 [GRCh38]
Chr9:135797341..135797342 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164135]|Isolated focal cortical dysplasia type II [RCV001165738]|TSC1-related condition [RCV003964895]|Tuberous sclerosis 1 [RCV000228124]|Tuberous sclerosis syndrome [RCV000042305]|not provided [RCV000724965]|not specified [RCV000122198] Chr9:132921950 [GRCh38]
Chr9:135797337 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.552G>C (p.Val184=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130383]|Tuberous sclerosis 1 [RCV000232155]|Tuberous sclerosis syndrome [RCV000042307]|not provided [RCV001531751]|not specified [RCV000246353] Chr9:132921930 [GRCh38]
Chr9:135797317 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024274]|Tuberous sclerosis 1 [RCV000460407]|Tuberous sclerosis syndrome [RCV000042308]|not provided [RCV001703929] Chr9:132921927 [GRCh38]
Chr9:135797314 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.563_564del (p.Phe188fs) deletion Tuberous sclerosis syndrome [RCV000042309] Chr9:132921918..132921919 [GRCh38]
Chr9:135797305..135797306 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130555]|TSC1-related condition [RCV003915006]|Tuberous sclerosis 1 [RCV000225932]|Tuberous sclerosis syndrome [RCV000042310]|not provided [RCV001703930]|not specified [RCV001727549] Chr9:132921914 [GRCh38]
Chr9:135797301 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro) single nucleotide variant Tuberous sclerosis syndrome [RCV000042311]|not provided [RCV000442086] Chr9:132921913 [GRCh38]
Chr9:135797300 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.569del (p.Arg190fs) deletion Malignant tumor of urinary bladder [RCV000042312] Chr9:132921913 [GRCh38]
Chr9:135797300 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.572T>A (p.Leu191His) single nucleotide variant Tuberous sclerosis 1 [RCV001852868]|Tuberous sclerosis syndrome [RCV000042313] Chr9:132921910 [GRCh38]
Chr9:135797297 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002266912]|Tuberous sclerosis syndrome [RCV000042314] Chr9:132921910 [GRCh38]
Chr9:135797297 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.575del (p.Tyr192fs) deletion Tuberous sclerosis syndrome [RCV000042315] Chr9:132921907 [GRCh38]
Chr9:135797294 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.576T>G (p.Tyr192Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042316] Chr9:132921906 [GRCh38]
Chr9:135797293 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.585C>A (p.Tyr195Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042317] Chr9:132921897 [GRCh38]
Chr9:135797284 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) deletion Tuberous sclerosis syndrome [RCV000042318] Chr9:132921887..132921889 [GRCh38]
Chr9:135797274..135797276 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.597_603del (p.Val200fs) deletion Tuberous sclerosis syndrome [RCV000042319] Chr9:132921879..132921885 [GRCh38]
Chr9:135797266..135797272 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258784]|Isolated focal cortical dysplasia type II [RCV001169731]|TSC1-related condition [RCV003407416]|Tuberous sclerosis 1 [RCV000687950]|Tuberous sclerosis syndrome [RCV000042320]|not specified [RCV000441826] Chr9:132921884 [GRCh38]
Chr9:135797271 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.599dup (p.Ser201fs) duplication Tuberous sclerosis 1 [RCV002514166]|Tuberous sclerosis syndrome [RCV000042321] Chr9:132921882..132921883 [GRCh38]
Chr9:135797269..135797270 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.602_604del (p.Ser201del) deletion Tuberous sclerosis syndrome [RCV000042322] Chr9:132921878..132921880 [GRCh38]
Chr9:135797265..135797267 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.607_608dup (p.Leu203fs) duplication Tuberous sclerosis syndrome [RCV000042323] Chr9:132921873..132921874 [GRCh38]
Chr9:135797260..135797261 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.615T>C (p.Ser205=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163476]|Isolated focal cortical dysplasia type II [RCV001169730]|Lymphangiomyomatosis [RCV002490588]|Tuberous sclerosis 1 [RCV000232761]|Tuberous sclerosis syndrome [RCV000042324]|not provided [RCV002512057]|not specified [RCV000179753] Chr9:132921867 [GRCh38]
Chr9:135797254 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.618T>C (p.His206=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491502]|Isolated focal cortical dysplasia type II [RCV000281474]|Tuberous sclerosis 1 [RCV000226107]|Tuberous sclerosis syndrome [RCV000042325]|not provided [RCV003476918]|not specified [RCV000189806] Chr9:132921864 [GRCh38]
Chr9:135797251 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000641989]|Tuberous sclerosis syndrome [RCV000042326] Chr9:132921835 [GRCh38]
Chr9:135797222 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance|not provided
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) deletion Tuberous sclerosis 1 [RCV001203487]|Tuberous sclerosis syndrome [RCV000042327]|not provided [RCV000993363] Chr9:132921834..132921835 [GRCh38]
Chr9:135797221..135797222 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.654dup (p.Val219fs) duplication Tuberous sclerosis syndrome [RCV000042328] Chr9:132921827..132921828 [GRCh38]
Chr9:135797214..135797215 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.663+1G>A single nucleotide variant Malignant tumor of urinary bladder [RCV000042329]|Tuberous sclerosis 1 [RCV000686448]|not provided [RCV000484162] Chr9:132921818 [GRCh38]
Chr9:135797205 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.663+39dup duplication Tuberous sclerosis syndrome [RCV000042330] Chr9:132921779..132921780 [GRCh38]
Chr9:135797166..135797167 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.663+7T>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042331] Chr9:132921812 [GRCh38]
Chr9:135797199 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.664-15A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362663]|Tuberous sclerosis 1 [RCV001257304]|Tuberous sclerosis syndrome [RCV000042332]|not provided [RCV001659983] Chr9:132921451 [GRCh38]
Chr9:135796838 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.664-1G>A single nucleotide variant Malignant tumor of urinary bladder [RCV000042333]|Tuberous sclerosis 1 [RCV000819722]|not provided [RCV000296063] Chr9:132921437 [GRCh38]
Chr9:135796824 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.664-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV000201068]|Tuberous sclerosis syndrome [RCV000042334] Chr9:132921437 [GRCh38]
Chr9:135796824 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.665del (p.Pro222fs) deletion Tuberous sclerosis syndrome [RCV000042335] Chr9:132921435 [GRCh38]
Chr9:135796822 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) single nucleotide variant Lymphangiomyomatosis [RCV000515416]|Tuberous sclerosis 1 [RCV000201126]|Tuberous sclerosis syndrome [RCV000042337]|not provided [RCV000189836] Chr9:132921418 [GRCh38]
Chr9:135796805 [GRCh37]
Chr9:9q34.13		 pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.694G>T (p.Glu232Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001852869]|Tuberous sclerosis syndrome [RCV000042338] Chr9:132921406 [GRCh38]
Chr9:135796793 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.694del (p.Glu232fs) deletion Tuberous sclerosis syndrome [RCV000042339] Chr9:132921406 [GRCh38]
Chr9:135796793 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.709dup (p.Ser237fs) duplication Tuberous sclerosis syndrome [RCV000042340] Chr9:132921390..132921391 [GRCh38]
Chr9:135796777..135796778 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.70del (p.Asp24fs) deletion Tuberous sclerosis syndrome [RCV000042341] Chr9:132928803 [GRCh38]
Chr9:135804190 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.720_721insA (p.Glu241fs) insertion Tuberous sclerosis syndrome [RCV000042342] Chr9:132921379..132921380 [GRCh38]
Chr9:135796766..135796767 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.724C>T (p.Leu242=) single nucleotide variant Tuberous sclerosis 1 [RCV003505090]|Tuberous sclerosis syndrome [RCV000042343] Chr9:132921376 [GRCh38]
Chr9:135796763 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.732del (p.Arg245fs) deletion Tuberous sclerosis syndrome [RCV000042344] Chr9:132921368 [GRCh38]
Chr9:135796755 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491872]|Tuberous sclerosis 1 [RCV000201189]|Tuberous sclerosis syndrome [RCV000042345]|not provided [RCV000255397] Chr9:132921367 [GRCh38]
Chr9:135796754 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.737+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001052124]|Tuberous sclerosis syndrome [RCV000042346]|not provided [RCV000189839] Chr9:132921362 [GRCh38]
Chr9:135796749 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.737+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561720]|Tuberous sclerosis 1 [RCV000660331]|Tuberous sclerosis syndrome [RCV000042347]|not provided [RCV000189840] Chr9:132921360 [GRCh38]
Chr9:135796747 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000821093]|Tuberous sclerosis syndrome [RCV000042348]|not provided [RCV000724695] Chr9:132921363 [GRCh38]
Chr9:135796750 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.737G>C (p.Arg246Thr) single nucleotide variant Tuberous sclerosis syndrome [RCV000042349] Chr9:132921363 [GRCh38]
Chr9:135796750 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.737delG (p.Arg246Serfs) deletion Tuberous sclerosis syndrome [RCV000042350] Chr9:132921363 [GRCh38]
Chr9:135796750 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.738-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV001221738]|Tuberous sclerosis syndrome [RCV000042351] Chr9:132912459 [GRCh38]
Chr9:135787846 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.738G>A (p.Arg246=) single nucleotide variant not provided [RCV000042352] Chr9:132912457 [GRCh38]
Chr9:135787844 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.742A>T (p.Lys248Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042353] Chr9:132912453 [GRCh38]
Chr9:135787840 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.745A>T (p.Arg249Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042354] Chr9:132912450 [GRCh38]
Chr9:135787837 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.745del (p.Arg249fs) deletion Tuberous sclerosis syndrome [RCV000042355] Chr9:132912450 [GRCh38]
Chr9:135787837 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.749T>G (p.Leu250Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042357] Chr9:132912446 [GRCh38]
Chr9:135787833 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer) deletion Tuberous sclerosis syndrome [RCV000042358]|not provided [RCV003482233] Chr9:132912446 [GRCh38]
Chr9:135787833 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.749dup (p.Leu250fs) duplication Tuberous sclerosis syndrome [RCV000042359] Chr9:132912445..132912446 [GRCh38]
Chr9:135787832..135787833 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.771del (p.Ile257fs) deletion Tuberous sclerosis syndrome [RCV000042360] Chr9:132912424 [GRCh38]
Chr9:135787811 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.772G>T (p.Glu258Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001797599]|Tuberous sclerosis syndrome [RCV000042361]|not provided [RCV001008650] Chr9:132912423 [GRCh38]
Chr9:135787810 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) microsatellite Hereditary cancer-predisposing syndrome [RCV000130030]|Tuberous sclerosis 1 [RCV001852870]|Tuberous sclerosis syndrome [RCV000042362] Chr9:132912382..132912383 [GRCh38]
Chr9:135787769..135787770 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.813T>A (p.Tyr271Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042363] Chr9:132912382 [GRCh38]
Chr9:135787769 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.824_825dup (p.Ser276fs) duplication Tuberous sclerosis syndrome [RCV000042364] Chr9:132912369..132912370 [GRCh38]
Chr9:135787756..135787757 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000542283]|Tuberous sclerosis syndrome [RCV000042365] Chr9:132912370 [GRCh38]
Chr9:135787757 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.4(TSC1):c.830_831delTG (p.His279Profs) deletion Tuberous sclerosis syndrome [RCV000042366] Chr9:132912364..132912365 [GRCh38]
Chr9:135787751..135787752 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.831_832del (p.His279fs) microsatellite Tuberous sclerosis syndrome [RCV000042367] Chr9:132912363..132912364 [GRCh38]
Chr9:135787750..135787751 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.834_835del (p.His279fs) microsatellite Tuberous sclerosis syndrome [RCV000042368] Chr9:132912360..132912361 [GRCh38]
Chr9:135787747..135787748 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.838C>T (p.Gln280Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042369] Chr9:132912357 [GRCh38]
Chr9:135787744 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.845C>A (p.Ser282Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042370] Chr9:132912350 [GRCh38]
Chr9:135787737 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.846dup (p.Ala283fs) duplication Tuberous sclerosis syndrome [RCV000042371] Chr9:132912348..132912349 [GRCh38]
Chr9:135787735..135787736 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.891T>A (p.Tyr297Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042372] Chr9:132912304 [GRCh38]
Chr9:135787691 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) single nucleotide variant Lymphangiomyomatosis [RCV000054984]|Tuberous sclerosis 1 [RCV001852871]|Tuberous sclerosis syndrome [RCV000042373] Chr9:132912304 [GRCh38]
Chr9:135787691 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.901C>T (p.Gln301Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000703930]|Tuberous sclerosis syndrome [RCV000042374] Chr9:132912294 [GRCh38]
Chr9:135787681 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.901_902del (p.Gln301fs) microsatellite Tuberous sclerosis 1 [RCV000180495]|Tuberous sclerosis syndrome [RCV000042375]|not provided [RCV000724497] Chr9:132912293..132912294 [GRCh38]
Chr9:135787680..135787681 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.901_913+1del deletion Tuberous sclerosis syndrome [RCV000042376] Chr9:132912281..132912294 [GRCh38]
Chr9:135787668..135787681 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003153241]|Tuberous sclerosis syndrome [RCV000042377] Chr9:132912283 [GRCh38]
Chr9:135787670 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.912_913+5del deletion Tuberous sclerosis syndrome [RCV000042378] Chr9:132912277..132912283 [GRCh38]
Chr9:135787664..135787670 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.913+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001852872]|Tuberous sclerosis syndrome [RCV000042379]|not provided [RCV001090692] Chr9:132912281 [GRCh38]
Chr9:135787668 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371859]|Tuberous sclerosis syndrome [RCV000042380]|not provided [RCV000432455] Chr9:132912282 [GRCh38]
Chr9:135787669 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance|not provided
NM_000368.5(TSC1):c.913G>T (p.Gly305Trp) single nucleotide variant Tuberous sclerosis syndrome [RCV000042381] Chr9:132912282 [GRCh38]
Chr9:135787669 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.914-18T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042382] Chr9:132911586 [GRCh38]
Chr9:135786973 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.936C>A (p.Tyr312Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042383] Chr9:132911546 [GRCh38]
Chr9:135786933 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.972G>A (p.Gly324=) single nucleotide variant Tuberous sclerosis 1 [RCV003505091]|Tuberous sclerosis syndrome [RCV000042384] Chr9:132911510 [GRCh38]
Chr9:135786897 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000201208]|Tuberous sclerosis syndrome [RCV000042385]|not provided [RCV000255408] Chr9:132911509 [GRCh38]
Chr9:135786896 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.983dup (p.Thr329fs) duplication Tuberous sclerosis syndrome [RCV000042386] Chr9:132911498..132911499 [GRCh38]
Chr9:135786885..135786886 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.988_989del (p.Leu330fs) microsatellite Hereditary cancer-predisposing syndrome [RCV000491469]|Tuberous sclerosis syndrome [RCV000042387] Chr9:132911493..132911494 [GRCh38]
Chr9:135786880..135786881 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.988dup (p.Leu330fs) duplication Tuberous sclerosis syndrome [RCV000042388] Chr9:132911493..132911494 [GRCh38]
Chr9:135786880..135786881 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1001C>A (p.Ser334Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505083]|Tuberous sclerosis syndrome [RCV000041973] Chr9:132911481 [GRCh38]
Chr9:135786868 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562162]|Tuberous sclerosis 1 [RCV000466068]|Tuberous sclerosis syndrome [RCV000041974]|not provided [RCV001703924]|not specified [RCV002271385] Chr9:132911476 [GRCh38]
Chr9:135786863 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1020del (p.Glu340fs) deletion Tuberous sclerosis syndrome [RCV000041975] Chr9:132911462 [GRCh38]
Chr9:135786849 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1029+1G>A single nucleotide variant Lymphangiomyomatosis [RCV002477137]|Tuberous sclerosis 1 [RCV001204448]|Tuberous sclerosis syndrome [RCV000041976] Chr9:132911452 [GRCh38]
Chr9:135786839 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1030-1G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000041977] Chr9:132911114 [GRCh38]
Chr9:135786501 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1030-3C>G single nucleotide variant Tuberous sclerosis 1 [RCV000468767]|Tuberous sclerosis syndrome [RCV000041978] Chr9:132911116 [GRCh38]
Chr9:135786503 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572872]|Isolated focal cortical dysplasia type II [RCV000398057]|Lymphangiomyomatosis [RCV002490461]|TSC1-related condition [RCV003944882]|Tuberous sclerosis 1 [RCV001080188]|Tuberous sclerosis syndrome [RCV000054847]|not provided [RCV000034598]|not specified [RCV000122200] Chr9:132911481 [GRCh38]
Chr9:135786868 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) single nucleotide variant Autism spectrum disorder [RCV000054950]|Hereditary cancer-predisposing syndrome [RCV000163322]|Isolated focal cortical dysplasia type II [RCV000404533]|Lymphangiomyomatosis [RCV002504867]|Tuberous sclerosis 1 [RCV001083517]|Tuberous sclerosis syndrome [RCV000054852]|not provided [RCV000034599]|not specified [RCV000122185] Chr9:132911064 [GRCh38]
Chr9:135786451 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010401]|Tuberous sclerosis 1 [RCV001086659]|Tuberous sclerosis syndrome [RCV000054854]|not provided [RCV000034600] Chr9:132927290 [GRCh38]
Chr9:135802677 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1263+88A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000054848]|not provided [RCV000034601]|not specified [RCV000119923] Chr9:132910483 [GRCh38]
Chr9:135785870 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568490]|Isolated focal cortical dysplasia type II [RCV000319085]|Primitive neuroectodermal tumor [RCV000761004]|Tuberous sclerosis 1 [RCV001085737]|Tuberous sclerosis syndrome [RCV000054845]|not provided [RCV000034602]|not specified [RCV000189811] Chr9:132906118 [GRCh38]
Chr9:135781505 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569644]|Isolated focal cortical dysplasia type II [RCV001167778]|Tuberous sclerosis 1 [RCV001080934]|Tuberous sclerosis syndrome [RCV000054849]|not provided [RCV000034603]|not specified [RCV000421357] Chr9:132905930 [GRCh38]
Chr9:135781317 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570330]|Tuberous sclerosis 1 [RCV000234486]|Tuberous sclerosis syndrome [RCV000054846]|not provided [RCV000034604]|not specified [RCV000186670] Chr9:132905618 [GRCh38]
Chr9:135781005 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163566]|Tuberous sclerosis 1 [RCV001083067]|not provided [RCV000034605] Chr9:132903793 [GRCh38]
Chr9:135779180 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163280]|Isolated focal cortical dysplasia type II [RCV000317696]|Lymphangiomyomatosis [RCV000515239]|TSC1-related condition [RCV003934882]|Tuberous sclerosis 1 [RCV001083195]|not provided [RCV000034606] Chr9:132903784 [GRCh38]
Chr9:135779171 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574632]|Isolated focal cortical dysplasia type II [RCV000328079]|Tuberous sclerosis 1 [RCV001079804]|Tuberous sclerosis syndrome [RCV000054844]|not provided [RCV000034608]|not specified [RCV000616913] Chr9:132897540 [GRCh38]
Chr9:135772927 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130763]|Isolated focal cortical dysplasia type II [RCV000297382]|Tuberous sclerosis 1 [RCV001080484]|Tuberous sclerosis syndrome [RCV000054850]|not provided [RCV000034609]|not specified [RCV000122196] Chr9:132896627 [GRCh38]
Chr9:135772014 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) microsatellite Hereditary cancer-predisposing syndrome [RCV002255261]|Tuberous sclerosis 1 [RCV001080890]|Tuberous sclerosis syndrome [RCV000054843]|not provided [RCV000034610]|not specified [RCV001824583] Chr9:132896600..132896601 [GRCh38]
Chr9:135771987..135771988 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572666]|Isolated focal cortical dysplasia type II [RCV000274136]|Tuberous sclerosis 1 [RCV001081625]|not provided [RCV000034611] Chr9:132896302 [GRCh38]
Chr9:135771689 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.851G>A (p.Arg284His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017939]|Tuberous sclerosis 1 [RCV001080486]|not provided [RCV000034612] Chr9:132912344 [GRCh38]
Chr9:135787731 [GRCh37]
Chr9:9q34.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162954]|Isolated focal cortical dysplasia type II [RCV000355920]|Lymphangiomyomatosis [RCV000054997]|Malignant tumor of breast [RCV001269358]|Malignant tumor of urinary bladder [RCV000054992]|Tuberous sclerosis 1 [RCV000576638]|Tuberous sclerosis syndrome [RCV000054853]|not provided [RCV000034613]|not specified [RCV000118695] Chr9:132911517 [GRCh38]
Chr9:135786904 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000368.5(TSC1):c.1030-9A>G single nucleotide variant Tuberous sclerosis 1 [RCV003764713]|Tuberous sclerosis syndrome [RCV000041979] Chr9:132911122 [GRCh38]
Chr9:135786509 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.4(TSC1):c.1030delG deletion Tuberous sclerosis 1 [RCV001380785]|Tuberous sclerosis syndrome [RCV000041980] Chr9:132911113 [GRCh38]
Chr9:135786500 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1040G>A (p.Trp347Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000041981] Chr9:132911103 [GRCh38]
Chr9:135786490 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372612]|Malignant tumor of urinary bladder [RCV000041982]|Tuberous sclerosis 1 [RCV002514164]|not provided [RCV001531750] Chr9:132911102 [GRCh38]
Chr9:135786489 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564589]|Isolated focal cortical dysplasia type II [RCV001167269]|Tuberous sclerosis 1 [RCV000472218]|Tuberous sclerosis syndrome [RCV000041983]|not provided [RCV001697066] Chr9:132911096 [GRCh38]
Chr9:135786483 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.106+15A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000397239]|Tuberous sclerosis 1 [RCV001095335]|Tuberous sclerosis syndrome [RCV000041984]|not provided [RCV000589338]|not specified [RCV000125622] Chr9:132928752 [GRCh38]
Chr9:135804139 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.107-2A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000041985] Chr9:132927306 [GRCh38]
Chr9:135802693 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1096_1109del (p.Pro366fs) deletion Tuberous sclerosis 1 [RCV003505084]|Tuberous sclerosis syndrome [RCV000041986]|not provided [RCV002251733] Chr9:132911034..132911047 [GRCh38]
Chr9:135786421..135786434 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1101_1114del (p.Asp368fs) deletion Tuberous sclerosis syndrome [RCV000041987] Chr9:132911029..132911042 [GRCh38]
Chr9:135786416..135786429 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.109dup (p.Arg37fs) duplication Tuberous sclerosis syndrome [RCV000041988] Chr9:132927301..132927302 [GRCh38]
Chr9:135802688..135802689 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1105C>T (p.Leu369=) single nucleotide variant Tuberous sclerosis syndrome [RCV000041989] Chr9:132911038 [GRCh38]
Chr9:135786425 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1110dup (p.His371fs) duplication Tuberous sclerosis syndrome [RCV000041990] Chr9:132911032..132911033 [GRCh38]
Chr9:135786419..135786420 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1112_1113dup (p.Pro372fs) microsatellite Tuberous sclerosis syndrome [RCV000041991] Chr9:132911029..132911030 [GRCh38]
Chr9:135786416..135786417 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1118dup (p.Tyr373Ter) duplication Tuberous sclerosis syndrome [RCV000041992] Chr9:132911024..132911025 [GRCh38]
Chr9:135786411..135786412 [GRCh37]
Chr9:9q34.13		 not provided
TSC1:c.1142-22_1142-21del microsatellite Tuberous sclerosis syndrome [RCV000041993]|not provided [RCV001561480] Chr9:132910713..132910714 [GRCh38]
Chr9:135786100..135786101 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.1142-33A>G single nucleotide variant Malignant tumor of urinary bladder [RCV000055040]|Tuberous sclerosis 1 [RCV003315571]|Tuberous sclerosis syndrome [RCV000041994]|not provided [RCV001675597]|not specified [RCV000254427] Chr9:132910725 [GRCh38]
Chr9:135786112 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.1152del (p.Gly385fs) deletion Tuberous sclerosis syndrome [RCV000041995]|not provided [RCV000189873] Chr9:132910682 [GRCh38]
Chr9:135786069 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1196_1209del (p.Pro399fs) deletion Tuberous sclerosis syndrome [RCV000041996] Chr9:132910625..132910638 [GRCh38]
Chr9:135786012..135786025 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1203del (p.His402fs) deletion Tuberous sclerosis syndrome [RCV000041997] Chr9:132910631 [GRCh38]
Chr9:135786018 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163452]|Isolated focal cortical dysplasia type II [RCV000383299]|Tuberous sclerosis 1 [RCV001082139]|Tuberous sclerosis syndrome [RCV000041998]|not provided [RCV000514892]|not specified [RCV000122186] Chr9:132910626 [GRCh38]
Chr9:135786013 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010542]|Isolated focal cortical dysplasia type II [RCV001165673]|Malignant tumor of urinary bladder [RCV000055012]|Tuberous sclerosis 1 [RCV000988278]|Tuberous sclerosis syndrome [RCV000041999]|not specified [RCV000422201] Chr9:132910584 [GRCh38]
Chr9:135785971 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1257del (p.Arg420fs) deletion Tuberous sclerosis 1 [RCV000201015]|Tuberous sclerosis syndrome [RCV000042000] Chr9:132910577 [GRCh38]
Chr9:135785964 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1264-12T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256016]|Tuberous sclerosis 1 [RCV002054840]|Tuberous sclerosis syndrome [RCV000042001]|not provided [RCV001703925] Chr9:132907382 [GRCh38]
Chr9:135782769 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.126A>C (p.Val42=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563826]|Tuberous sclerosis 1 [RCV000557677]|Tuberous sclerosis syndrome [RCV000042002]|not provided [RCV001703926]|not specified [RCV000439867] Chr9:132927285 [GRCh38]
Chr9:135802672 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1279del (p.Ser427fs) deletion Tuberous sclerosis 1 [RCV001852862]|Tuberous sclerosis syndrome [RCV000042004] Chr9:132907355 [GRCh38]
Chr9:135782742 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042005] Chr9:132907331 [GRCh38]
Chr9:135782718 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.130dup (p.Thr44fs) duplication Tuberous sclerosis syndrome [RCV000042006] Chr9:132927280..132927281 [GRCh38]
Chr9:135802667..135802668 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.131_132dup (p.Leu45fs) duplication Tuberous sclerosis syndrome [RCV000042007] Chr9:132927278..132927279 [GRCh38]
Chr9:135802665..135802666 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.132dup (p.Val46fs) duplication Malignant tumor of urinary bladder [RCV000042008] Chr9:132927278..132927279 [GRCh38]
Chr9:135802665..135802666 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1331C>A (p.Ser444Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042009] Chr9:132907303 [GRCh38]
Chr9:135782690 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1331C>G (p.Ser444Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042010] Chr9:132907303 [GRCh38]
Chr9:135782690 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1333+13C>T single nucleotide variant Lymphangiomyomatosis [RCV002490586]|Tuberous sclerosis 1 [RCV002054841]|Tuberous sclerosis syndrome [RCV000042011]|not specified [RCV000420716] Chr9:132907288 [GRCh38]
Chr9:135782675 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1333+5A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572018]|Isolated focal cortical dysplasia type II [RCV001169652]|Lymphangiomyomatosis [RCV002504929]|TSC1-related condition [RCV003952465]|Tuberous sclerosis 1 [RCV000233376]|Tuberous sclerosis syndrome [RCV000042012]|not provided [RCV001558777]|not specified [RCV001729368] Chr9:132907296 [GRCh38]
Chr9:135782683 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1333+1dup duplication Tuberous sclerosis syndrome [RCV000042013] Chr9:132907299..132907300 [GRCh38]
Chr9:135782686..135782687 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1334-55C>G single nucleotide variant Tuberous sclerosis syndrome [RCV000042014]|not provided [RCV001618237] Chr9:132906890 [GRCh38]
Chr9:135782277 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162953]|Isolated focal cortical dysplasia type II [RCV000287833]|Tuberous sclerosis 1 [RCV000576803]|Tuberous sclerosis syndrome [RCV000042015]|not provided [RCV000586425]|not specified [RCV000118690] Chr9:132906834 [GRCh38]
Chr9:135782221 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000368.5(TSC1):c.1338del (p.Glu446fs) deletion Tuberous sclerosis syndrome [RCV000042016] Chr9:132906831 [GRCh38]
Chr9:135782218 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) single nucleotide variant Autism spectrum disorder [RCV000054961]|Hereditary cancer-predisposing syndrome [RCV000130698]|Isolated focal cortical dysplasia type II [RCV000332357]|Tuberous sclerosis 1 [RCV000203929]|Tuberous sclerosis syndrome [RCV000042017]|not provided [RCV001811306]|not specified [RCV000122189] Chr9:132906827 [GRCh38]
Chr9:135782214 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1354G>C (p.Gly452Arg) single nucleotide variant Malignant tumor of urinary bladder [RCV000042018] Chr9:132906815 [GRCh38]
Chr9:135782202 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1361_1398del (p.Val454fs) deletion Tuberous sclerosis syndrome [RCV000042019] Chr9:132906771..132906808 [GRCh38]
Chr9:135782158..135782195 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1364del (p.Thr455fs) deletion Tuberous sclerosis syndrome [RCV000042020] Chr9:132906805 [GRCh38]
Chr9:135782192 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1366_1367insGA (p.Leu456fs) insertion Tuberous sclerosis syndrome [RCV000042021] Chr9:132906802..132906803 [GRCh38]
Chr9:135782189..135782190 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1369del (p.Ser457fs) deletion Tuberous sclerosis 1 [RCV002513609]|Tuberous sclerosis syndrome [RCV000042022] Chr9:132906800 [GRCh38]
Chr9:135782187 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1371T>C (p.Ser457=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042023] Chr9:132906798 [GRCh38]
Chr9:135782185 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1379del (p.Pro460fs) deletion Tuberous sclerosis 1 [RCV002513610]|Tuberous sclerosis syndrome [RCV000042024] Chr9:132906790 [GRCh38]
Chr9:135782177 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1411_1412insT (p.Asp471fs) insertion Tuberous sclerosis syndrome [RCV000042025] Chr9:132906757..132906758 [GRCh38]
Chr9:135782144..135782145 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs) deletion Tuberous sclerosis 1 [RCV000201075]|Tuberous sclerosis syndrome [RCV000042026]|not provided [RCV001090691] Chr9:132906735..132906738 [GRCh38]
Chr9:135782122..135782125 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1432_1433dup (p.Glu479fs) duplication Tuberous sclerosis syndrome [RCV000042027] Chr9:132906735..132906736 [GRCh38]
Chr9:135782122..135782123 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1433A>G (p.Glu478Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002513611]|Tuberous sclerosis syndrome [RCV000042028] Chr9:132906736 [GRCh38]
Chr9:135782123 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1438+6G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256017]|Isolated focal cortical dysplasia type II [RCV000385329]|Tuberous sclerosis 1 [RCV001083129]|Tuberous sclerosis syndrome [RCV000042029]|not provided [RCV000227291]|not specified [RCV001727548] Chr9:132906725 [GRCh38]
Chr9:135782112 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1439-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV001208859]|Tuberous sclerosis syndrome [RCV000042030] Chr9:132906141 [GRCh38]
Chr9:135781528 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.1439-37C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000042031]|not provided [RCV001650880]|not specified [RCV000245549] Chr9:132906176 [GRCh38]
Chr9:135781563 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.145del (p.Tyr49fs) deletion Tuberous sclerosis syndrome [RCV000042032] Chr9:132927266 [GRCh38]
Chr9:135802653 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1462G>T (p.Glu488Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042033] Chr9:132906116 [GRCh38]
Chr9:135781503 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1470del (p.Thr491fs) deletion Tuberous sclerosis syndrome [RCV000042034] Chr9:132906108 [GRCh38]
Chr9:135781495 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1481dup (p.Glu495fs) duplication Tuberous sclerosis syndrome [RCV000042035] Chr9:132906096..132906097 [GRCh38]
Chr9:135781483..135781484 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.148del (p.Leu50fs) deletion Tuberous sclerosis syndrome [RCV000042036] Chr9:132927263 [GRCh38]
Chr9:135802650 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1490_1491del (p.Val497fs) microsatellite Tuberous sclerosis syndrome [RCV000042037] Chr9:132906087..132906088 [GRCh38]
Chr9:135781474..135781475 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390180]|Lymphangiomyomatosis [RCV001199095]|Tuberous sclerosis 1 [RCV000474016]|Tuberous sclerosis syndrome [RCV000042038]|not provided [RCV000254845] Chr9:132906080 [GRCh38]
Chr9:135781467 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1499G>A (p.Arg500Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001210673]|Tuberous sclerosis syndrome [RCV000042039] Chr9:132906079 [GRCh38]
Chr9:135781466 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.149T>C (p.Leu50Pro) single nucleotide variant Tuberous sclerosis 1 [RCV002513612]|Tuberous sclerosis syndrome [RCV000042040] Chr9:132927262 [GRCh38]
Chr9:135802649 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1501G>T (p.Gly501Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042041] Chr9:132906077 [GRCh38]
Chr9:135781464 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1515dup (p.Pro506fs) duplication Tuberous sclerosis syndrome [RCV000042042] Chr9:132906062..132906063 [GRCh38]
Chr9:135781449..135781450 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390181]|Lymphangiomyomatosis [RCV000515319]|Malignant tumor of urinary bladder [RCV000055036]|Tuberous sclerosis 1 [RCV000201132]|Tuberous sclerosis syndrome [RCV000042043]|not provided [RCV000189847] Chr9:132906053 [GRCh38]
Chr9:135781440 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance|not provided
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567091]|Lymphangiomyomatosis [RCV002490587]|Tuberous sclerosis 1 [RCV000464379]|Tuberous sclerosis syndrome [RCV000042044]|not provided [RCV003430651]|not specified [RCV000122191] Chr9:132906052 [GRCh38]
Chr9:135781439 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.4(TSC1):c.1529_1530delAC (p.Asp510Glufs) deletion Tuberous sclerosis syndrome [RCV000042045] Chr9:132906048..132906049 [GRCh38]
Chr9:135781435..135781436 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1533del (p.Leu512fs) deletion Tuberous sclerosis syndrome [RCV000042046] Chr9:132906045 [GRCh38]
Chr9:135781432 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011985]|Tuberous sclerosis 1 [RCV000461171]|Tuberous sclerosis syndrome [RCV000042047] Chr9:132927258 [GRCh38]
Chr9:135802645 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1542_1543insG (p.Ser515fs) insertion Tuberous sclerosis syndrome [RCV000042048] Chr9:132906035..132906036 [GRCh38]
Chr9:135781422..135781423 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1559del (p.His520fs) deletion Tuberous sclerosis syndrome [RCV000042049] Chr9:132906019 [GRCh38]
Chr9:135781406 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569517]|Tuberous sclerosis 1 [RCV000466589]|Tuberous sclerosis syndrome [RCV000042050] Chr9:132906011 [GRCh38]
Chr9:135781398 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV000054972]|Tuberous sclerosis 1 [RCV000660336]|Tuberous sclerosis syndrome [RCV000042051]|not provided [RCV000578889] Chr9:132905999 [GRCh38]
Chr9:135781386 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs) deletion Tuberous sclerosis 1 [RCV000201005]|Tuberous sclerosis syndrome [RCV000042052]|not provided [RCV003311669] Chr9:132905997..132905998 [GRCh38]
Chr9:135781384..135781385 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1615del (p.Ser539fs) deletion Tuberous sclerosis syndrome [RCV000042053] Chr9:132905963 [GRCh38]
Chr9:135781350 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1631_1647del (p.Gly544fs) deletion Tuberous sclerosis syndrome [RCV000042054] Chr9:132905931..132905947 [GRCh38]
Chr9:135781318..135781334 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV000054965]|Tuberous sclerosis 1 [RCV001852863]|Tuberous sclerosis syndrome [RCV000042055] Chr9:132927248 [GRCh38]
Chr9:135802635 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1662del (p.Pro554_Ile555insTer) deletion Tuberous sclerosis syndrome [RCV000042056] Chr9:132905916 [GRCh38]
Chr9:135781303 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1669C>T (p.Leu557=) single nucleotide variant Tuberous sclerosis 1 [RCV001506861]|Tuberous sclerosis syndrome [RCV000042057] Chr9:132905909 [GRCh38]
Chr9:135781296 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.1669del (p.Leu557fs) deletion Malignant tumor of urinary bladder [RCV000054884]|Tuberous sclerosis syndrome [RCV000042058] Chr9:132905909 [GRCh38]
Chr9:135781296 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1676dup (p.Cys559fs) duplication Tuberous sclerosis syndrome [RCV000042060] Chr9:132905901..132905902 [GRCh38]
Chr9:135781288..135781289 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1680_1702dup (p.Gly568fs) duplication Tuberous sclerosis 1 [RCV001385236]|Tuberous sclerosis syndrome [RCV000042061] Chr9:132905875..132905876 [GRCh38]
Chr9:135781262..135781263 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1683_1705dup (p.Asp569fs) duplication Tuberous sclerosis syndrome [RCV000042062] Chr9:132905872..132905873 [GRCh38]
Chr9:135781259..135781260 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1687del (p.Asp563fs) deletion Tuberous sclerosis syndrome [RCV000042063] Chr9:132905891 [GRCh38]
Chr9:135781278 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1692_1693del (p.Ser565fs) deletion Tuberous sclerosis syndrome [RCV000042064] Chr9:132905885..132905886 [GRCh38]
Chr9:135781272..135781273 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1697del (p.Pro566fs) deletion Tuberous sclerosis 1 [RCV000660337]|Tuberous sclerosis syndrome [RCV000042065]|not provided [RCV000520621] Chr9:132905881 [GRCh38]
Chr9:135781268 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) deletion Hereditary cancer-predisposing syndrome [RCV000491128]|Tuberous sclerosis 1 [RCV001852864]|Tuberous sclerosis syndrome [RCV000042066]|not provided [RCV001797053] Chr9:132905869..132905870 [GRCh38]
Chr9:135781256..135781257 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1717C>T (p.Gln573Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042067] Chr9:132905861 [GRCh38]
Chr9:135781248 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1724C>T (p.Ser575Phe) single nucleotide variant Tuberous sclerosis syndrome [RCV000042068] Chr9:132905854 [GRCh38]
Chr9:135781241 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162960]|Isolated focal cortical dysplasia type II [RCV000297283]|Malignant tumor of urinary bladder [RCV000055008]|Tuberous sclerosis 1 [RCV001084140]|Tuberous sclerosis syndrome [RCV000042069]|not provided [RCV000587200]|not specified [RCV000174844] Chr9:132905852 [GRCh38]
Chr9:135781239 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1727_1742del (p.Leu576fs) deletion Tuberous sclerosis syndrome [RCV000042070] Chr9:132905836..132905851 [GRCh38]
Chr9:135781223..135781238 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1727_1748delinsG (p.Leu576_Pro583delinsCys) indel Malignant tumor of urinary bladder [RCV000042071] Chr9:132905830..132905851 [GRCh38]
Chr9:135781217..135781238 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1729G>T (p.Glu577Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042072] Chr9:132905849 [GRCh38]
Chr9:135781236 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1731G>C (p.Glu577Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003505085]|Tuberous sclerosis syndrome [RCV000042073] Chr9:132905847 [GRCh38]
Chr9:135781234 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1736del (p.Ser579fs) deletion Tuberous sclerosis syndrome [RCV000042074] Chr9:132905842 [GRCh38]
Chr9:135781229 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1746dup (p.Pro583fs) duplication Tuberous sclerosis syndrome [RCV000042075] Chr9:132905831..132905832 [GRCh38]
Chr9:135781218..135781219 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1749_1750del (p.Pro585fs) deletion Tuberous sclerosis syndrome [RCV000042076] Chr9:132905828..132905829 [GRCh38]
Chr9:135781215..135781216 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer) deletion Tuberous sclerosis syndrome [RCV000042077] Chr9:132905813..132905821 [GRCh38]
Chr9:135781200..135781208 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1761A>G (p.Lys587=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042079] Chr9:132905817 [GRCh38]
Chr9:135781204 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1767A>G (p.Pro589=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042080] Chr9:132905811 [GRCh38]
Chr9:135781198 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1773_1774dup (p.Thr592fs) duplication Tuberous sclerosis syndrome [RCV000042081] Chr9:132905803..132905804 [GRCh38]
Chr9:135781190..135781191 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1776G>T (p.Thr592=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298083]|Tuberous sclerosis syndrome [RCV000042082] Chr9:132905802 [GRCh38]
Chr9:135781189 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.1777A>T (p.Arg593Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042083] Chr9:132905801 [GRCh38]
Chr9:135781188 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1788del (p.Phe596fs) deletion Tuberous sclerosis syndrome [RCV000042084]|not provided [RCV003228902] Chr9:132905790 [GRCh38]
Chr9:135781177 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1791_1792dup (p.Ser598fs) duplication Tuberous sclerosis syndrome [RCV000042085] Chr9:132905785..132905786 [GRCh38]
Chr9:135781172..135781173 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1792dup (p.Ser598fs) duplication Tuberous sclerosis syndrome [RCV000042086] Chr9:132905785..132905786 [GRCh38]
Chr9:135781172..135781173 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.181_189del (p.Thr62_Leu64del) deletion Tuberous sclerosis syndrome [RCV000042087] Chr9:132927222..132927230 [GRCh38]
Chr9:135802609..135802617 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1823_1824del (p.Leu607_Phe608insTer) deletion Tuberous sclerosis syndrome [RCV000042088] Chr9:132905754..132905755 [GRCh38]
Chr9:135781141..135781142 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1823_1824dup (p.Glu609fs) duplication Tuberous sclerosis syndrome [RCV000042089] Chr9:132905753..132905754 [GRCh38]
Chr9:135781140..135781141 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1825G>T (p.Glu609Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505086]|Tuberous sclerosis syndrome [RCV000042090] Chr9:132905753 [GRCh38]
Chr9:135781140 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.182T>C (p.Leu61Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001380989]|Tuberous sclerosis syndrome [RCV000042091]|not provided [RCV002286701] Chr9:132927229 [GRCh38]
Chr9:135802616 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1839A>G (p.Pro613=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042092] Chr9:132905739 [GRCh38]
Chr9:135781126 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1841del (p.Lys614fs) deletion Tuberous sclerosis syndrome [RCV000042093] Chr9:132905737 [GRCh38]
Chr9:135781124 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1851del (p.His618fs) deletion Tuberous sclerosis syndrome [RCV000042094] Chr9:132905727 [GRCh38]
Chr9:135781114 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1857del (p.Phe619fs) deletion Tuberous sclerosis syndrome [RCV000042095] Chr9:132905721 [GRCh38]
Chr9:135781108 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1883T>A (p.Leu628Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042096] Chr9:132905695 [GRCh38]
Chr9:135781082 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1883T>G (p.Leu628Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042097] Chr9:132905695 [GRCh38]
Chr9:135781082 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1886del (p.Lys629fs) deletion Tuberous sclerosis syndrome [RCV000042098] Chr9:132905692 [GRCh38]
Chr9:135781079 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1890dup (p.Ala631fs) duplication Tuberous sclerosis syndrome [RCV000042100] Chr9:132905687..132905688 [GRCh38]
Chr9:135781074..135781075 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.1903_1904delAC (p.Thr635Argfs) deletion Tuberous sclerosis syndrome [RCV000042101] Chr9:132905674..132905675 [GRCh38]
Chr9:135781061..135781062 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs) microsatellite Malignant tumor of urinary bladder [RCV000054920]|Tuberous sclerosis 1 [RCV000824628]|Tuberous sclerosis syndrome [RCV000042103]|not provided [RCV001090689] Chr9:132905670..132905671 [GRCh38]
Chr9:135781057..135781058 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.191_199del (p.Leu64_Pro67delinsSer) deletion Tuberous sclerosis syndrome [RCV000042104] Chr9:132927212..132927220 [GRCh38]
Chr9:135802599..135802607 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1942del (p.Val648fs) deletion Tuberous sclerosis syndrome [RCV000042105] Chr9:132905636 [GRCh38]
Chr9:135781023 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1955_1956del (p.Leu652fs) deletion Tuberous sclerosis syndrome [RCV000042106] Chr9:132905622..132905623 [GRCh38]
Chr9:135781009..135781010 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1958_1959del (p.Ile653fs) deletion Malignant tumor of urinary bladder [RCV000042107] Chr9:132905619..132905620 [GRCh38]
Chr9:135781006..135781007 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) duplication Tuberous sclerosis 1 [RCV000201178]|Tuberous sclerosis syndrome [RCV000042108] Chr9:132905618..132905619 [GRCh38]
Chr9:135781005..135781006 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415486]|Tuberous sclerosis 1 [RCV000698745]|Tuberous sclerosis syndrome [RCV000042109]|not provided [RCV000713908] Chr9:132905618 [GRCh38]
Chr9:135781005 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415487]|Tuberous sclerosis 1 [RCV003505087]|Tuberous sclerosis syndrome [RCV000042110]|not provided [RCV000189852] Chr9:132905615 [GRCh38]
Chr9:135781002 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1968A>C (p.Gly656=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042111] Chr9:132905610 [GRCh38]
Chr9:135780997 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255265]|Tuberous sclerosis 1 [RCV001056632]|Tuberous sclerosis syndrome [RCV000042112]|not provided [RCV000841758] Chr9:132905604 [GRCh38]
Chr9:135780991 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570911]|Tuberous sclerosis 1 [RCV000469663]|Tuberous sclerosis syndrome [RCV000042113]|not provided [RCV002292461]|not specified [RCV001002541] Chr9:132905602 [GRCh38]
Chr9:135780989 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1997+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV002514165]|Tuberous sclerosis syndrome [RCV000042114]|not provided [RCV000189849] Chr9:132905580 [GRCh38]
Chr9:135780967 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1997+1G>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042115] Chr9:132905580 [GRCh38]
Chr9:135780967 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1997+67AG[2] microsatellite Malignant tumor of urinary bladder [RCV000042116] Chr9:132905509..132905510 [GRCh38]
Chr9:135780896..135780897 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1998-1G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042117] Chr9:132904455 [GRCh38]
Chr9:135779842 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001203717]|Tuberous sclerosis syndrome [RCV000042121] Chr9:132904446 [GRCh38]
Chr9:135779833 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1998-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001058298]|Tuberous sclerosis syndrome [RCV000042118] Chr9:132904455 [GRCh38]
Chr9:135779842 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.1998-54C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000042119] Chr9:132904508 [GRCh38]
Chr9:135779895 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1998G>A (p.Lys666=) single nucleotide variant Tuberous sclerosis syndrome [RCV000042120] Chr9:132904454 [GRCh38]
Chr9:135779841 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2022C>T (p.Val674=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014098]|Tuberous sclerosis 1 [RCV001797596]|Tuberous sclerosis syndrome [RCV000042122]|not specified [RCV000600188] Chr9:132904430 [GRCh38]
Chr9:135779817 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.2022del (p.Asp675fs) deletion Tuberous sclerosis 1 [RCV003505088]|Tuberous sclerosis syndrome [RCV000042123] Chr9:132904430 [GRCh38]
Chr9:135779817 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2023del (p.Asp675fs) deletion TSC1-related condition [RCV003390732]|Tuberous sclerosis syndrome [RCV000042124]|not provided [RCV000517079] Chr9:132904429 [GRCh38]
Chr9:135779816 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2028G>A (p.Trp676Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003326117]|Tuberous sclerosis syndrome [RCV000042125] Chr9:132904424 [GRCh38]
Chr9:135779811 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2030_2040del (p.Thr677fs) deletion Tuberous sclerosis syndrome [RCV000042126] Chr9:132904412..132904422 [GRCh38]
Chr9:135779799..135779809 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256018]|Tuberous sclerosis 1 [RCV000226639]|Tuberous sclerosis syndrome [RCV000042127] Chr9:132904413 [GRCh38]
Chr9:135779800 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.203A>G (p.His68Arg) single nucleotide variant Malignant tumor of urinary bladder [RCV000042128] Chr9:132927208 [GRCh38]
Chr9:135802595 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2041+2T>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042129] Chr9:132904409 [GRCh38]
Chr9:135779796 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2041+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415488]|Tuberous sclerosis syndrome [RCV000042130] Chr9:132904409 [GRCh38]
Chr9:135779796 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415489]|Tuberous sclerosis syndrome [RCV000042131] Chr9:132904411 [GRCh38]
Chr9:135779798 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2042-2A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV003460554]|Tuberous sclerosis syndrome [RCV000042132]|not provided [RCV003886371] Chr9:132903819 [GRCh38]
Chr9:135779206 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.2042-5A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568333]|Tuberous sclerosis 1 [RCV001222573]|Tuberous sclerosis syndrome [RCV000042133] Chr9:132903822 [GRCh38]
Chr9:135779209 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.2054C>A (p.Ser685Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042134] Chr9:132903805 [GRCh38]
Chr9:135779192 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer) indel Tuberous sclerosis syndrome [RCV000042135] Chr9:132903785..132903790 [GRCh38]
Chr9:135779172..135779177 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415490]|Lymphangiomyomatosis [RCV000763190]|Malignant tumor of urinary bladder [RCV000054891]|Tuberous sclerosis 1 [RCV000201087]|Tuberous sclerosis syndrome [RCV000042136]|not provided [RCV000413998] Chr9:132903785 [GRCh38]
Chr9:135779172 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2082del (p.Gln694fs) deletion Tuberous sclerosis syndrome [RCV000042137]|not provided [RCV003125887] Chr9:132903777 [GRCh38]
Chr9:135779164 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2090del (p.Leu697fs) deletion Tuberous sclerosis 1 [RCV001387641]|Tuberous sclerosis syndrome [RCV000042138] Chr9:132903769 [GRCh38]
Chr9:135779156 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2094del (p.His699fs) deletion Tuberous sclerosis syndrome [RCV000042139] Chr9:132903765 [GRCh38]
Chr9:135779152 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2097dup (p.Asn700fs) duplication Tuberous sclerosis syndrome [RCV000042140] Chr9:132903761..132903762 [GRCh38]
Chr9:135779148..135779149 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.210+18A>G single nucleotide variant Tuberous sclerosis 1 [RCV002054842]|Tuberous sclerosis syndrome [RCV000042141]|not provided [RCV001579342]|not specified [RCV000125624] Chr9:132927183 [GRCh38]
Chr9:135802570 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.210+1G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042142] Chr9:132927200 [GRCh38]
Chr9:135802587 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.210+33G>A single nucleotide variant Tuberous sclerosis 1 [RCV001797597]|Tuberous sclerosis syndrome [RCV000042143]|not provided [RCV000832511]|not specified [RCV000247885] Chr9:132927168 [GRCh38]
Chr9:135802555 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.2101_2102del (p.Gln701fs) deletion Tuberous sclerosis syndrome [RCV000042144] Chr9:132903757..132903758 [GRCh38]
Chr9:135779144..135779145 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2101del (p.Gln701fs) deletion Tuberous sclerosis syndrome [RCV000042145] Chr9:132903758 [GRCh38]
Chr9:135779145 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.4(TSC1):c.2102_2105delAGTT (p.Gln701Hisfs) deletion Tuberous sclerosis syndrome [RCV000042146] Chr9:132903754..132903757 [GRCh38]
Chr9:135779141..135779144 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2103G>T (p.Gln701His) single nucleotide variant Tuberous sclerosis syndrome [RCV000042147] Chr9:132903756 [GRCh38]
Chr9:135779143 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2103_2106del (p.Gln701fs) deletion See cases [RCV003128388]|Tuberous sclerosis syndrome [RCV000042148] Chr9:132903753..132903756 [GRCh38]
Chr9:135779140..135779143 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.2103_2109dup (p.Tyr704fs) duplication Tuberous sclerosis syndrome [RCV000042149] Chr9:132903749..132903750 [GRCh38]
Chr9:135779136..135779137 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2106_2107insGTTTA (p.Leu703fs) insertion Tuberous sclerosis syndrome [RCV000042150] Chr9:132903752..132903753 [GRCh38]
Chr9:135779139..135779140 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2109_2110del (p.Leu703_Tyr704insTer) microsatellite Tuberous sclerosis syndrome [RCV000042151] Chr9:132903749..132903750 [GRCh38]
Chr9:135779136..135779137 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.211-16T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042152] Chr9:132925755 [GRCh38]
Chr9:135801142 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.211-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV000686570]|Tuberous sclerosis syndrome [RCV000042153] Chr9:132925740 [GRCh38]
Chr9:135801127 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.211-2A>C single nucleotide variant Tuberous sclerosis 1 [RCV000201170]|Tuberous sclerosis syndrome [RCV000042154] Chr9:132925741 [GRCh38]
Chr9:135801128 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2110dup (p.Tyr704fs) duplication Tuberous sclerosis syndrome [RCV000042155] Chr9:132903748..132903749 [GRCh38]
Chr9:135779135..135779136 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) deletion Isolated focal cortical dysplasia type II [RCV003460555]|Tuberous sclerosis 1 [RCV000476162]|Tuberous sclerosis syndrome [RCV000042156]|not provided [RCV000483745] Chr9:132903747..132903748 [GRCh38]
Chr9:135779134..135779135 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001199387]|Tuberous sclerosis syndrome [RCV000042157]|not provided [RCV003311670] Chr9:132903747 [GRCh38]
Chr9:135779134 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000688704]|Tuberous sclerosis syndrome [RCV000042158] Chr9:132903728 [GRCh38]
Chr9:135779115 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.4(TSC1):c.2134_2138delCATGC (p.His712Profs) deletion Tuberous sclerosis syndrome [RCV000042159] Chr9:132903721..132903725 [GRCh38]
Chr9:135779108..135779112 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2135_2139del (p.His712fs) deletion Tuberous sclerosis syndrome [RCV000042160] Chr9:132903720..132903724 [GRCh38]
Chr9:135779107..135779111 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2145del (p.Asn716fs) deletion Tuberous sclerosis 1 [RCV001385877]|Tuberous sclerosis syndrome [RCV000042161]|not provided [RCV001008783] Chr9:132903714 [GRCh38]
Chr9:135779101 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2151dup (p.Arg718fs) duplication Tuberous sclerosis syndrome [RCV000042162] Chr9:132903707..132903708 [GRCh38]
Chr9:135779094..135779095 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.215T>C (p.Leu72Pro) single nucleotide variant Tuberous sclerosis syndrome [RCV000042163] Chr9:132925735 [GRCh38]
Chr9:135801122 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2169del (p.Ile724fs) deletion Tuberous sclerosis syndrome [RCV000042164] Chr9:132903690 [GRCh38]
Chr9:135779077 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2173_2176del (p.Lys725fs) deletion Tuberous sclerosis syndrome [RCV000042165] Chr9:132903683..132903686 [GRCh38]
Chr9:135779070..135779073 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2175dup (p.Ala726fs) duplication Tuberous sclerosis syndrome [RCV000042166] Chr9:132903683..132903684 [GRCh38]
Chr9:135779070..135779071 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2177C>A (p.Ala726Glu) single nucleotide variant Tuberous sclerosis syndrome [RCV000042167] Chr9:132903682 [GRCh38]
Chr9:135779069 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2191del (p.Glu731fs) deletion Tuberous sclerosis syndrome [RCV000042168] Chr9:132903668 [GRCh38]
Chr9:135779055 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2208+23G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000042169] Chr9:132903628 [GRCh38]
Chr9:135779015 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2209-35A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000042170] Chr9:132902822 [GRCh38]
Chr9:135778209 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2209-9C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000042171] Chr9:132902796 [GRCh38]
Chr9:135778183 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332093]|Tuberous sclerosis 1 [RCV001199388]|Tuberous sclerosis syndrome [RCV000042172]|not provided [RCV000414029] Chr9:132902769 [GRCh38]
Chr9:135778156 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042173]|not provided [RCV000993362] Chr9:132902747 [GRCh38]
Chr9:135778134 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2250G>A (p.Trp750Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002513613]|Tuberous sclerosis syndrome [RCV000042174] Chr9:132902746 [GRCh38]
Chr9:135778133 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2260C>T (p.Leu754=) single nucleotide variant Tuberous sclerosis 1 [RCV002513614]|Tuberous sclerosis syndrome [RCV000042175] Chr9:132902736 [GRCh38]
Chr9:135778123 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs) microsatellite Tuberous sclerosis 1 [RCV001281331]|Tuberous sclerosis syndrome [RCV000042176] Chr9:132902725..132902728 [GRCh38]
Chr9:135778112..135778115 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2280_2295del (p.Tyr761fs) deletion Tuberous sclerosis syndrome [RCV000042177] Chr9:132902701..132902716 [GRCh38]
Chr9:135778088..135778103 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.227T>A (p.Ile76Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001348924]|Tuberous sclerosis syndrome [RCV000042178] Chr9:132925723 [GRCh38]
Chr9:135801110 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2281_2284dup (p.Asn762fs) duplication Tuberous sclerosis syndrome [RCV000042179] Chr9:132902711..132902712 [GRCh38]
Chr9:135778098..135778099 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001199389]|Tuberous sclerosis syndrome [RCV000042180]|not provided [RCV000422886] Chr9:132902713 [GRCh38]
Chr9:135778100 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2283C>G (p.Tyr761Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042181] Chr9:132902713 [GRCh38]
Chr9:135778100 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130869]|Isolated focal cortical dysplasia type II [RCV000270998]|Tuberous sclerosis 1 [RCV001083830]|Tuberous sclerosis syndrome [RCV000042182]|not provided [RCV000713909]|not specified [RCV000189820] Chr9:132902711 [GRCh38]
Chr9:135778098 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001223370]|Tuberous sclerosis syndrome [RCV000042183] Chr9:132902709 [GRCh38]
Chr9:135778096 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2291del (p.Leu764fs) deletion Tuberous sclerosis syndrome [RCV000042184] Chr9:132902705 [GRCh38]
Chr9:135778092 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001384743]|Tuberous sclerosis syndrome [RCV000042185]|not provided [RCV000523745] Chr9:132902703 [GRCh38]
Chr9:135778090 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2298_2320del (p.Gln767fs) deletion Tuberous sclerosis syndrome [RCV000042186] Chr9:132902676..132902698 [GRCh38]
Chr9:135778063..135778085 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2299C>T (p.Gln767Ter) single nucleotide variant TSC1-related condition [RCV003915004]|Tuberous sclerosis syndrome [RCV000042187] Chr9:132902697 [GRCh38]
Chr9:135778084 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2317del (p.Thr773fs) deletion Tuberous sclerosis syndrome [RCV000042188] Chr9:132902679 [GRCh38]
Chr9:135778066 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2319del (p.Lys774fs) deletion Tuberous sclerosis syndrome [RCV000042189] Chr9:132902677 [GRCh38]
Chr9:135778064 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2328_2329del (p.His776fs) microsatellite Tuberous sclerosis syndrome [RCV000042190] Chr9:132902667..132902668 [GRCh38]
Chr9:135778054..135778055 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2332C>T (p.Gln778Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042191] Chr9:132902664 [GRCh38]
Chr9:135778051 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426584]|Lymphangiomyomatosis [RCV002054843]|Tuberous sclerosis 1 [RCV000473593]|Tuberous sclerosis syndrome [RCV000042192] Chr9:132902655 [GRCh38]
Chr9:135778042 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001199390]|Tuberous sclerosis syndrome [RCV000042193] Chr9:132902649 [GRCh38]
Chr9:135778036 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491852]|Seizure [RCV000415379]|Tuberous sclerosis 1 [RCV000201048]|Tuberous sclerosis syndrome [RCV000042194]|not provided [RCV000519452] Chr9:132902640 [GRCh38]
Chr9:135778027 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2357del (p.Arg786fs) deletion Tuberous sclerosis syndrome [RCV000042195] Chr9:132902639 [GRCh38]
Chr9:135778026 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2360_2364del (p.Glu787fs) deletion Tuberous sclerosis syndrome [RCV000042196] Chr9:132902632..132902636 [GRCh38]
Chr9:135778019..135778023 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000793708]|Tuberous sclerosis syndrome [RCV000042197] Chr9:132902634 [GRCh38]
Chr9:135778021 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2364del (p.Glu788fs) deletion Tuberous sclerosis syndrome [RCV000042198] Chr9:132902632 [GRCh38]
Chr9:135778019 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2392-35T>C single nucleotide variant Tuberous sclerosis 1 [RCV001514618]|Tuberous sclerosis syndrome [RCV000042199]|not provided [RCV001675598]|not specified [RCV000252255] Chr9:132901734 [GRCh38]
Chr9:135777121 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042200]|not provided [RCV000481095] Chr9:132901690 [GRCh38]
Chr9:135777077 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2407del (p.Cys803fs) deletion Tuberous sclerosis syndrome [RCV000042201] Chr9:132901684 [GRCh38]
Chr9:135777071 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2412_2425del (p.Asn805fs) deletion Tuberous sclerosis syndrome [RCV000042202] Chr9:132901666..132901679 [GRCh38]
Chr9:135777053..135777066 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298084]|Lymphangiomyomatosis [RCV002483037]|Tuberous sclerosis 1 [RCV000642006]|Tuberous sclerosis syndrome [RCV000042203] Chr9:132901671 [GRCh38]
Chr9:135777058 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.2421dup (p.Ala808fs) duplication Tuberous sclerosis syndrome [RCV000042204] Chr9:132901669..132901670 [GRCh38]
Chr9:135777056..135777057 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574658]|Tuberous sclerosis 1 [RCV001082222]|Tuberous sclerosis syndrome [RCV000042205]|not provided [RCV000227608] Chr9:132901666 [GRCh38]
Chr9:135777053 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.2456_2459del (p.Asn819fs) deletion Tuberous sclerosis syndrome [RCV000042206] Chr9:132901632..132901635 [GRCh38]
Chr9:135777019..135777022 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.245A>C (p.Lys82Thr) single nucleotide variant Malignant tumor of urinary bladder [RCV000042207] Chr9:132925705 [GRCh38]
Chr9:135801092 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2465_2466del (p.Cys822fs) microsatellite Tuberous sclerosis syndrome [RCV000042208] Chr9:132901625..132901626 [GRCh38]
Chr9:135777012..135777013 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2468_2469insG (p.His823fs) insertion Tuberous sclerosis syndrome [RCV000042209] Chr9:132901622..132901623 [GRCh38]
Chr9:135777009..135777010 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2468del (p.His823fs) deletion Tuberous sclerosis syndrome [RCV000042210] Chr9:132901623 [GRCh38]
Chr9:135777010 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2470_2471del (p.His823_Thr824insTer) microsatellite Tuberous sclerosis 1 [RCV002513615]|Tuberous sclerosis syndrome [RCV000042211] Chr9:132901620..132901621 [GRCh38]
Chr9:135777007..135777008 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2471_2472del (p.Thr824fs) deletion Tuberous sclerosis syndrome [RCV000042212] Chr9:132901619..132901620 [GRCh38]
Chr9:135777006..135777007 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576111]|Tuberous sclerosis 1 [RCV000464791]|Tuberous sclerosis syndrome [RCV000042213]|not provided [RCV001539406] Chr9:132901606 [GRCh38]
Chr9:135776993 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332094]|Tuberous sclerosis syndrome [RCV000042214] Chr9:132901594 [GRCh38]
Chr9:135776981 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2501dup (p.Leu835fs) duplication Tuberous sclerosis syndrome [RCV000042215] Chr9:132901589..132901590 [GRCh38]
Chr9:135776976..135776977 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2503-1G>T single nucleotide variant Tuberous sclerosis syndrome [RCV000042216] Chr9:132900838 [GRCh38]
Chr9:135776225 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2503-21T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042217]|not provided [RCV001280765] Chr9:132900858 [GRCh38]
Chr9:135776245 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2503-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV000988273]|Tuberous sclerosis syndrome [RCV000042218] Chr9:132900839 [GRCh38]
Chr9:135776226 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2503-35T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000042219] Chr9:132900872 [GRCh38]
Chr9:135776259 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015787]|Tuberous sclerosis 1 [RCV000796200]|Tuberous sclerosis syndrome [RCV000042220] Chr9:132900833 [GRCh38]
Chr9:135776220 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.4(TSC1):c.2508_2511delAAAC (p.Asn837Valfs) deletion Tuberous sclerosis syndrome [RCV000042221] Chr9:132900829..132900832 [GRCh38]
Chr9:135776216..135776219 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) deletion Lymphangiomyomatosis [RCV001198554]|Seizure [RCV000415443]|Tuberous sclerosis 1 [RCV000201118]|Tuberous sclerosis syndrome [RCV000042222]|not provided [RCV000522266] Chr9:132900828..132900831 [GRCh38]
Chr9:135776215..135776218 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163475]|Isolated focal cortical dysplasia type II [RCV001167327]|Tuberous sclerosis 1 [RCV000234434]|Tuberous sclerosis syndrome [RCV000042223]|not provided [RCV002512056]|not specified [RCV000122183] Chr9:132925700 [GRCh38]
Chr9:135801087 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.2510dup (p.Asn837fs) duplication Tuberous sclerosis 1 [RCV000541372]|Tuberous sclerosis syndrome [RCV000042224] Chr9:132900829..132900830 [GRCh38]
Chr9:135776216..135776217 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2528_2534del (p.Gln843fs) deletion Tuberous sclerosis syndrome [RCV000042225] Chr9:132900806..132900812 [GRCh38]
Chr9:135776193..135776199 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.252dup (p.Thr85fs) duplication Tuberous sclerosis syndrome [RCV000042226] Chr9:132925697..132925698 [GRCh38]
Chr9:135801084..135801085 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs) deletion Tuberous sclerosis 1 [RCV000679899]|Tuberous sclerosis syndrome [RCV000042227] Chr9:132900778..132900781 [GRCh38]
Chr9:135776165..135776168 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2569del (p.Glu857fs) deletion Tuberous sclerosis syndrome [RCV000042228]|not provided [RCV000189877] Chr9:132900771 [GRCh38]
Chr9:135776158 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2569dup (p.Glu857fs) duplication Tuberous sclerosis syndrome [RCV000042229] Chr9:132900770..132900771 [GRCh38]
Chr9:135776157..135776158 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2595del (p.Gln865fs) deletion Tuberous sclerosis syndrome [RCV000042230] Chr9:132900745 [GRCh38]
Chr9:135776132 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.260_261insGA (p.Ser88fs) insertion Tuberous sclerosis syndrome [RCV000042231] Chr9:132925689..132925690 [GRCh38]
Chr9:135801076..135801077 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2625+1G>A single nucleotide variant Malignant tumor of urinary bladder [RCV000042232] Chr9:132900714 [GRCh38]
Chr9:135776101 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2626-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV000793960]|Tuberous sclerosis syndrome [RCV000042233] Chr9:132897612 [GRCh38]
Chr9:135772999 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.2626-4del deletion Hereditary cancer-predisposing syndrome [RCV002256019]|Isolated focal cortical dysplasia type II [RCV000313026]|Tuberous sclerosis 1 [RCV001514617]|Tuberous sclerosis syndrome [RCV000042234]|not provided [RCV000586305]|not specified [RCV001795035] Chr9:132897614 [GRCh38]
Chr9:135773001 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163300]|Isolated focal cortical dysplasia type II [RCV000384965]|Malignant tumor of urinary bladder [RCV000054945]|Tuberous sclerosis 1 [RCV000231700]|Tuberous sclerosis syndrome [RCV000042235]|not provided [RCV001528699]|not specified [RCV000125633] Chr9:132897590 [GRCh38]
Chr9:135772977 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561284]|Lymphangiomyomatosis [RCV002496669]|TSC1-related condition [RCV003964894]|Tuberous sclerosis 1 [RCV000234628]|Tuberous sclerosis syndrome [RCV000042236]|not provided [RCV001703927] Chr9:132897589 [GRCh38]
Chr9:135772976 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.2650dup (p.Tyr884fs) duplication Tuberous sclerosis syndrome [RCV000042237] Chr9:132897585..132897586 [GRCh38]
Chr9:135772972..135772973 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016218]|Tuberous sclerosis 1 [RCV001084137]|Tuberous sclerosis syndrome [RCV000042238]|not provided [RCV000457663] Chr9:132897583 [GRCh38]
Chr9:135772970 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs) duplication Tuberous sclerosis 1 [RCV001852865]|Tuberous sclerosis syndrome [RCV000042239] Chr9:132897563..132897564 [GRCh38]
Chr9:135772950..135772951 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) duplication Hereditary cancer-predisposing syndrome [RCV001016278]|Tuberous sclerosis 1 [RCV000550474]|Tuberous sclerosis syndrome [RCV000042240] Chr9:132897563..132897564 [GRCh38]
Chr9:135772950..135772951 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.4(TSC1):c.2674_2675delAG (p.Arg892Lysfs) deletion Tuberous sclerosis syndrome [RCV000042241] Chr9:132897561..132897562 [GRCh38]
Chr9:135772948..135772949 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000490863]|Tuberous sclerosis 1 [RCV001797598]|Tuberous sclerosis syndrome [RCV000042242]|not provided [RCV000255974] Chr9:132897547 [GRCh38]
Chr9:135772934 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491065]|Tuberous sclerosis 1 [RCV000538905]|Tuberous sclerosis syndrome [RCV000042243] Chr9:132897544 [GRCh38]
Chr9:135772931 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2694del (p.Thr899fs) deletion Tuberous sclerosis syndrome [RCV000042244] Chr9:132897542 [GRCh38]
Chr9:135772929 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2699del (p.Gln900fs) deletion Tuberous sclerosis syndrome [RCV000042245] Chr9:132897537 [GRCh38]
Chr9:135772924 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000660339]|Tuberous sclerosis syndrome [RCV000042246]|not provided [RCV000627233] Chr9:132897520 [GRCh38]
Chr9:135772907 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.271_272del (p.Ser91fs) microsatellite Tuberous sclerosis 1 [RCV000201195]|Tuberous sclerosis syndrome [RCV000042247]|not provided [RCV001795036] Chr9:132925678..132925679 [GRCh38]
Chr9:135801065..135801066 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.272C>A (p.Ser91Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000042248] Chr9:132925678 [GRCh38]
Chr9:135801065 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.276dup (p.Leu93fs) duplication Tuberous sclerosis 1 [RCV000660329]|Tuberous sclerosis syndrome [RCV000042249] Chr9:132925673..132925674 [GRCh38]
Chr9:135801060..135801061 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2781G>A (p.Lys927=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256020]|Tuberous sclerosis 1 [RCV000473022]|Tuberous sclerosis syndrome [RCV000042250] Chr9:132897455 [GRCh38]
Chr9:135772842 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.2786_2787del (p.Tyr929fs) microsatellite Tuberous sclerosis syndrome [RCV000042251] Chr9:132897449..132897450 [GRCh38]
Chr9:135772836..135772837 [GRCh37]
Chr9:9q34.13		 not provided
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
NM_000368.5(TSC1):c.1382G>A (p.Gly461Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381200] Chr9:132906787 [GRCh38]
Chr9:135782174 [GRCh37]
Chr9:134771995 [NCBI36]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2164A>T (p.Lys722Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000054872] Chr9:132903695 [GRCh38]
Chr9:135779082 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568811]|Tuberous sclerosis 1 [RCV000465974]|Tuberous sclerosis syndrome [RCV000054874]|not provided [RCV001618239]|not specified [RCV000122199] Chr9:132912342 [GRCh38]
Chr9:135787729 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.106+47A>C single nucleotide variant Tuberous sclerosis syndrome [RCV000054875] Chr9:132928720 [GRCh38]
Chr9:135804107 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.325C>T (p.Gln109Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000823533]|Tuberous sclerosis syndrome [RCV000054876]|not provided [RCV002307386] Chr9:132925625 [GRCh38]
Chr9:135801012 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.211-11dup duplication Hereditary cancer-predisposing syndrome [RCV002256034]|Tuberous sclerosis 1 [RCV002054881]|Tuberous sclerosis syndrome [RCV000054877]|not provided [RCV000605136]|not specified [RCV001727556] Chr9:132925749..132925750 [GRCh38]
Chr9:135801136..135801137 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.260T>G (p.Leu87Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505092]|Tuberous sclerosis syndrome [RCV000054878]|not provided [RCV000305404] Chr9:132925690 [GRCh38]
Chr9:135801077 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371892]|Tuberous sclerosis 1 [RCV000456358]|Tuberous sclerosis syndrome [RCV000054879]|not provided [RCV000782214] Chr9:132923459 [GRCh38]
Chr9:135798846 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1703dup (p.Asp569fs) duplication Tuberous sclerosis syndrome [RCV000054880] Chr9:132905874..132905875 [GRCh38]
Chr9:135781261..135781262 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1250del (p.Thr417fs) deletion Tuberous sclerosis 1 [RCV001250492]|Tuberous sclerosis syndrome [RCV000054881] Chr9:132910584 [GRCh38]
Chr9:135785971 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs) duplication Tuberous sclerosis 1 [RCV001853082]|Tuberous sclerosis syndrome [RCV000054882]|not provided [RCV000523879] Chr9:132903752..132903753 [GRCh38]
Chr9:135779139..135779140 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2329del (p.Ser777fs) deletion Lymphangiomyomatosis [RCV001333395]|Tuberous sclerosis syndrome [RCV000054883] Chr9:132902667 [GRCh38]
Chr9:135778054 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.*2230A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000054885] Chr9:132894005 [GRCh38]
Chr9:135769392 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569110]|Lymphangiomyomatosis [RCV002504953]|TSC1-related condition [RCV003944974]|Tuberous sclerosis 1 [RCV000230511]|Tuberous sclerosis syndrome [RCV000054886]|not specified [RCV000422004] Chr9:132900835 [GRCh38]
Chr9:135776222 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.*3260G>C single nucleotide variant Tuberous sclerosis syndrome [RCV000054887] Chr9:132892975 [GRCh38]
Chr9:135768362 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000705433]|Tuberous sclerosis syndrome [RCV000054888]|not provided [RCV000428655] Chr9:132902724 [GRCh38]
Chr9:135778111 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.395G>A (p.Gly132Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002513715]|Tuberous sclerosis syndrome [RCV000054889] Chr9:132923461 [GRCh38]
Chr9:135798848 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2387dup (p.Leu796fs) duplication Tuberous sclerosis syndrome [RCV000054894] Chr9:132902608..132902609 [GRCh38]
Chr9:135777995..135777996 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*3935C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054895] Chr9:132892300 [GRCh38]
Chr9:135767687 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2658del (p.Glu887fs) deletion Tuberous sclerosis syndrome [RCV000054896] Chr9:132897578 [GRCh38]
Chr9:135772965 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV000054918]|Tuberous sclerosis 1 [RCV002267724]|Tuberous sclerosis syndrome [RCV000054897]|not provided [RCV002509195] Chr9:132903779 [GRCh38]
Chr9:135779166 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.-129A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000379999]|Tuberous sclerosis 1 [RCV001095358]|Tuberous sclerosis syndrome [RCV000054898]|not provided [RCV000713903] Chr9:132935081 [GRCh38]
Chr9:135810468 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.*1396T>C single nucleotide variant Tuberous sclerosis syndrome [RCV000054899] Chr9:132894839 [GRCh38]
Chr9:135770226 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2101_2107del (p.Gln701fs) deletion Tuberous sclerosis syndrome [RCV000054900] Chr9:132903752..132903758 [GRCh38]
Chr9:135779139..135779145 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1249del (p.Thr417fs) deletion Tuberous sclerosis syndrome [RCV000054901] Chr9:132910585 [GRCh38]
Chr9:135785972 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1964del (p.Gln655fs) deletion Tuberous sclerosis syndrome [RCV000054902] Chr9:132905614 [GRCh38]
Chr9:135781001 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.530del (p.Leu177fs) deletion Tuberous sclerosis syndrome [RCV000054903] Chr9:132921952 [GRCh38]
Chr9:135797339 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.324_325del (p.Gln109fs) microsatellite Tuberous sclerosis syndrome [RCV000054904] Chr9:132925625..132925626 [GRCh38]
Chr9:135801012..135801013 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*2893del deletion Isolated focal cortical dysplasia type II [RCV000382418]|Tuberous sclerosis syndrome [RCV000054905] Chr9:132893342 [GRCh38]
Chr9:135768729 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.-16G>A single nucleotide variant Tuberous sclerosis 1 [RCV003315580]|Tuberous sclerosis syndrome [RCV000054907]|not specified [RCV000432663] Chr9:132928888 [GRCh38]
Chr9:135804275 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.1884_1905del (p.Lys629fs) deletion Tuberous sclerosis syndrome [RCV000054908] Chr9:132905673..132905694 [GRCh38]
Chr9:135781060..135781081 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1452del (p.Glu485fs) deletion Tuberous sclerosis syndrome [RCV000054909] Chr9:132906126 [GRCh38]
Chr9:135781513 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.396C>T (p.Gly132=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003460648]|Tuberous sclerosis 1 [RCV001208812]|Tuberous sclerosis syndrome [RCV000054910] Chr9:132923460 [GRCh38]
Chr9:135798847 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1366_1367del (p.Leu456fs) microsatellite Tuberous sclerosis syndrome [RCV000054912] Chr9:132906802..132906803 [GRCh38]
Chr9:135782189..135782190 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) microsatellite Hereditary cancer-predisposing syndrome [RCV002415508]|Isolated focal cortical dysplasia type II [RCV003474639]|Tuberous sclerosis 1 [RCV001208037]|Tuberous sclerosis syndrome [RCV000054913] Chr9:132903807..132903809 [GRCh38]
Chr9:135779194..135779196 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564681]|TSC1-related condition [RCV003407435]|Tuberous sclerosis 1 [RCV001083507]|Tuberous sclerosis syndrome [RCV000054914]|not provided [RCV000724243] Chr9:132903782 [GRCh38]
Chr9:135779169 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257397]|TSC1-related condition [RCV003894903]|Tuberous sclerosis 1 [RCV000230900]|Tuberous sclerosis syndrome [RCV000054915]|not provided [RCV001697039] Chr9:132901613 [GRCh38]
Chr9:135777000 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1911del (p.Asp638fs) deletion Tuberous sclerosis syndrome [RCV000054916] Chr9:132905667 [GRCh38]
Chr9:135781054 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*1487C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000344370]|Tuberous sclerosis 1 [RCV001095304]|Tuberous sclerosis syndrome [RCV000054917] Chr9:132894748 [GRCh38]
Chr9:135770135 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.508+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV002291555]|Tuberous sclerosis syndrome [RCV000054919] Chr9:132923347 [GRCh38]
Chr9:135798734 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.*1468C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000393353]|Tuberous sclerosis 1 [RCV001095318]|Tuberous sclerosis syndrome [RCV000054921] Chr9:132894767 [GRCh38]
Chr9:135770154 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.*358C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000365168]|Tuberous sclerosis 1 [RCV001095329]|Tuberous sclerosis syndrome [RCV000054922]|not provided [RCV003421963] Chr9:132895877 [GRCh38]
Chr9:135771264 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.2093T>G (p.Leu698Arg) single nucleotide variant Tuberous sclerosis syndrome [RCV000054923] Chr9:132903766 [GRCh38]
Chr9:135779153 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2146_2153dup (p.Leu719fs) duplication Tuberous sclerosis syndrome [RCV000054924] Chr9:132903705..132903706 [GRCh38]
Chr9:135779092..135779093 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1439-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001039771]|Tuberous sclerosis syndrome [RCV000054925]|not provided [RCV001781387] Chr9:132906140 [GRCh38]
Chr9:135781527 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.2652T>A (p.Tyr884Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000054926] Chr9:132897584 [GRCh38]
Chr9:135772971 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020306]|Tuberous sclerosis 1 [RCV001084718]|Tuberous sclerosis syndrome [RCV000054927]|not provided [RCV000831184]|not specified [RCV003398644] Chr9:132896294 [GRCh38]
Chr9:135771681 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.966G>A (p.Met322Ile) single nucleotide variant Inborn genetic diseases [RCV003258662]|Tuberous sclerosis syndrome [RCV000054928] Chr9:132911516 [GRCh38]
Chr9:135786903 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.915G>A (p.Gly305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018932]|Tuberous sclerosis 1 [RCV000526995]|Tuberous sclerosis syndrome [RCV000054929]|not provided [RCV001570973] Chr9:132911567 [GRCh38]
Chr9:135786954 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215128]|Tuberous sclerosis 1 [RCV000465854]|Tuberous sclerosis syndrome [RCV000054930] Chr9:132911475 [GRCh38]
Chr9:135786862 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.2502+51A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000054931]|not provided [RCV000829954] Chr9:132901538 [GRCh38]
Chr9:135776925 [GRCh37]
Chr9:9q34.13		 benign|not provided
NM_000368.5(TSC1):c.231C>T (p.Asn77=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015172]|Isolated focal cortical dysplasia type II [RCV000347871]|Tuberous sclerosis 1 [RCV000466895]|Tuberous sclerosis syndrome [RCV000054932] Chr9:132925719 [GRCh38]
Chr9:135801106 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1572C>G (p.Ser524=) single nucleotide variant Tuberous sclerosis 1 [RCV003505093]|Tuberous sclerosis syndrome [RCV000054933] Chr9:132906006 [GRCh38]
Chr9:135781393 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000461024]|Tuberous sclerosis syndrome [RCV000054934] Chr9:132927229 [GRCh38]
Chr9:135802616 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.1766del (p.Pro589fs) deletion Tuberous sclerosis syndrome [RCV000054935] Chr9:132905812 [GRCh38]
Chr9:135781199 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) microsatellite Hereditary cancer-predisposing syndrome [RCV002321550]|TSC1-related condition [RCV003934996]|Tuberous sclerosis 1 [RCV000642071]|Tuberous sclerosis syndrome [RCV000054936] Chr9:132896601..132896603 [GRCh38]
Chr9:135771988..135771990 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.1439-25C>A single nucleotide variant Tuberous sclerosis syndrome [RCV000054937] Chr9:132906164 [GRCh38]
Chr9:135781551 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000641963]|Tuberous sclerosis syndrome [RCV000054939] Chr9:132901660 [GRCh38]
Chr9:135777047 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1876G>T (p.Glu626Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002515741]|Tuberous sclerosis syndrome [RCV000054940] Chr9:132905702 [GRCh38]
Chr9:135781089 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221123]|TSC1-related condition [RCV003894904]|Tuberous sclerosis 1 [RCV000467055]|Tuberous sclerosis syndrome [RCV000054941]|not specified [RCV000438576] Chr9:132905994 [GRCh38]
Chr9:135781381 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.712A>T (p.Lys238Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000054942] Chr9:132921388 [GRCh38]
Chr9:135796775 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2033_2041+14del deletion Tuberous sclerosis syndrome [RCV000054943] Chr9:132904397..132904419 [GRCh38]
Chr9:135779784..135779806 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.211-1G>T single nucleotide variant Tuberous sclerosis 1 [RCV000797052]|Tuberous sclerosis syndrome [RCV000054944] Chr9:132925740 [GRCh38]
Chr9:135801127 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs) deletion Tuberous sclerosis 1 [RCV000005407]|Tuberous sclerosis syndrome [RCV000054946]|not provided [RCV000713905] Chr9:132905876..132905898 [GRCh38]
Chr9:135781263..135781285 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563693]|Isolated focal cortical dysplasia type II [RCV000393416]|Tuberous sclerosis 1 [RCV000642084]|Tuberous sclerosis syndrome [RCV000054947] Chr9:132905696 [GRCh38]
Chr9:135781083 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1141+1G>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054948]|not provided [RCV001508280] Chr9:132911001 [GRCh38]
Chr9:135786388 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001389750]|Tuberous sclerosis syndrome [RCV000054949] Chr9:132903668 [GRCh38]
Chr9:135779055 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.*4591G>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054952] Chr9:132891644 [GRCh38]
Chr9:135767031 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2392-1G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000054953] Chr9:132901700 [GRCh38]
Chr9:135777087 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1535_1536del (p.Leu512fs) microsatellite Tuberous sclerosis syndrome [RCV000054954] Chr9:132906042..132906043 [GRCh38]
Chr9:135781429..135781430 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.738-20A>G single nucleotide variant Tuberous sclerosis 1 [RCV002054882]|Tuberous sclerosis syndrome [RCV000054955]|not specified [RCV000435983] Chr9:132912477 [GRCh38]
Chr9:135787864 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.*913C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000304744]|Tuberous sclerosis 1 [RCV001095344]|Tuberous sclerosis syndrome [RCV000054956] Chr9:132895322 [GRCh38]
Chr9:135770709 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.2523C>T (p.Val841=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453367]|Tuberous sclerosis 1 [RCV001487920]|Tuberous sclerosis syndrome [RCV000054957] Chr9:132900817 [GRCh38]
Chr9:135776204 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.921T>C (p.Ala307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371893]|Tuberous sclerosis syndrome [RCV000054958] Chr9:132911561 [GRCh38]
Chr9:135786948 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.*2641G>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054959] Chr9:132893594 [GRCh38]
Chr9:135768981 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2657_2658del (p.Lys886fs) deletion Tuberous sclerosis syndrome [RCV000054960] Chr9:132897578..132897579 [GRCh38]
Chr9:135772965..135772966 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1664del (p.Ile555fs) deletion Tuberous sclerosis syndrome [RCV000054962] Chr9:132905914 [GRCh38]
Chr9:135781301 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.658G>T (p.Val220Phe) single nucleotide variant Malignant tumor of urinary bladder [RCV000054963] Chr9:132921824 [GRCh38]
Chr9:135797211 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321551]|Tuberous sclerosis 1 [RCV001062290]|Tuberous sclerosis syndrome [RCV000054964] Chr9:132896583 [GRCh38]
Chr9:135771970 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1166del (p.Gly389fs) deletion Tuberous sclerosis syndrome [RCV000054966] Chr9:132910668 [GRCh38]
Chr9:135786055 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.663+10A>C single nucleotide variant Tuberous sclerosis syndrome [RCV000054967] Chr9:132921809 [GRCh38]
Chr9:135797196 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.-7C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000210810]|Isolated focal cortical dysplasia type II [RCV001167930]|Tuberous sclerosis 1 [RCV001095336]|Tuberous sclerosis syndrome [RCV000054968]|not provided [RCV001530001]|not specified [RCV000125621] Chr9:132928879 [GRCh38]
Chr9:135804266 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.611G>C (p.Arg204Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003505094]|Tuberous sclerosis syndrome [RCV000054969] Chr9:132921871 [GRCh38]
Chr9:135797258 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.2070_2097dup (p.Asn700fs) duplication Tuberous sclerosis syndrome [RCV000054970] Chr9:132903761..132903762 [GRCh38]
Chr9:135779148..135779149 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.648del (p.Phe216fs) deletion Tuberous sclerosis 1 [RCV001221701]|Tuberous sclerosis syndrome [RCV000054971] Chr9:132921834 [GRCh38]
Chr9:135797221 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.591dup (p.Asn198fs) duplication Tuberous sclerosis syndrome [RCV000054973] Chr9:132921890..132921891 [GRCh38]
Chr9:135797277..135797278 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.624del (p.Ser208fs) deletion Tuberous sclerosis syndrome [RCV000054974] Chr9:132921858 [GRCh38]
Chr9:135797245 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2106delinsGT (p.Leu703fs) indel Tuberous sclerosis syndrome [RCV000054975] Chr9:132903753 [GRCh38]
Chr9:135779140 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.738-36_747del deletion Tuberous sclerosis syndrome [RCV000054976] Chr9:132912448..132912493 [GRCh38]
Chr9:135787835..135787880 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) single nucleotide variant Craniopharyngioma [RCV000761088]|Hereditary cancer-predisposing syndrome [RCV002362687]|Tuberous sclerosis 1 [RCV000474632]|Tuberous sclerosis syndrome [RCV000054977] Chr9:132910603 [GRCh38]
Chr9:135785990 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.*1332C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054978] Chr9:132894903 [GRCh38]
Chr9:135770290 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2041+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV000201001]|Tuberous sclerosis syndrome [RCV000054979] Chr9:132904410 [GRCh38]
Chr9:135779797 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255275]|Tuberous sclerosis 1 [RCV000551431]|Tuberous sclerosis syndrome [RCV000054980]|not provided [RCV001562958] Chr9:132923480 [GRCh38]
Chr9:135798867 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.*361C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054981] Chr9:132895874 [GRCh38]
Chr9:135771261 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2781_2784del (p.Lys927fs) deletion Tuberous sclerosis syndrome [RCV000054982] Chr9:132897452..132897455 [GRCh38]
Chr9:135772839..135772842 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001250493]|Tuberous sclerosis syndrome [RCV000054983] Chr9:132905819 [GRCh38]
Chr9:135781206 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2626-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001250494]|Tuberous sclerosis syndrome [RCV000054985] Chr9:132897611 [GRCh38]
Chr9:135772998 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381355]|Tuberous sclerosis 1 [RCV001304807]|Tuberous sclerosis syndrome [RCV000054987] Chr9:132906826 [GRCh38]
Chr9:135782213 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1007_1016del (p.Arg336fs) deletion Tuberous sclerosis syndrome [RCV000054988] Chr9:132911466..132911475 [GRCh38]
Chr9:135786853..135786862 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2521dup (p.Val841fs) duplication Tuberous sclerosis syndrome [RCV000054989] Chr9:132900818..132900819 [GRCh38]
Chr9:135776205..135776206 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.737+1del deletion Tuberous sclerosis syndrome [RCV000054990] Chr9:132921362 [GRCh38]
Chr9:135796749 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.385dup (p.Leu129fs) duplication Tuberous sclerosis syndrome [RCV000054991] Chr9:132923470..132923471 [GRCh38]
Chr9:135798857..135798858 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*3936C>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054993] Chr9:132892299 [GRCh38]
Chr9:135767686 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1849C>G (p.His617Asp) single nucleotide variant Tuberous sclerosis syndrome [RCV000054994] Chr9:132905729 [GRCh38]
Chr9:135781116 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs) insertion Tuberous sclerosis 1 [RCV002274891]|Tuberous sclerosis syndrome [RCV000054995] Chr9:132902653..132902654 [GRCh38]
Chr9:135778040..135778041 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1368A>C (p.Leu456=) single nucleotide variant Tuberous sclerosis 1 [RCV001853083]|Tuberous sclerosis syndrome [RCV000054996] Chr9:132906801 [GRCh38]
Chr9:135782188 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1439-2A>T single nucleotide variant Tuberous sclerosis syndrome [RCV000054998] Chr9:132906141 [GRCh38]
Chr9:135781528 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1757_1768delinsCA (p.Cys586fs) indel Tuberous sclerosis syndrome [RCV000054999] Chr9:132905810..132905821 [GRCh38]
Chr9:135781197..135781208 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1431dup (p.Glu478fs) duplication Tuberous sclerosis syndrome [RCV000055000] Chr9:132906737..132906738 [GRCh38]
Chr9:135782124..135782125 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002316209]|Tuberous sclerosis 1 [RCV001081160]|Tuberous sclerosis syndrome [RCV000055001]|not provided [RCV000724068] Chr9:132897227 [GRCh38]
Chr9:135772614 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1997+17C>G single nucleotide variant Tuberous sclerosis 1 [RCV002054883]|Tuberous sclerosis syndrome [RCV000055002] Chr9:132905564 [GRCh38]
Chr9:135780951 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.146del (p.Tyr49fs) deletion Tuberous sclerosis 1 [RCV000641997]|Tuberous sclerosis syndrome [RCV000055003] Chr9:132927265 [GRCh38]
Chr9:135802652 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter) single nucleotide variant Lymphangiomyomatosis [RCV002496733]|Tuberous sclerosis 1 [RCV000551066]|Tuberous sclerosis syndrome [RCV000055004]|not provided [RCV000413404] Chr9:132902607 [GRCh38]
Chr9:135777994 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) single nucleotide variant Autism spectrum disorder [RCV000055027]|Hereditary cancer-predisposing syndrome [RCV000163292]|Isolated focal cortical dysplasia type II [RCV000372436]|TSC1-related condition [RCV003934997]|Tuberous sclerosis 1 [RCV001080106]|Tuberous sclerosis syndrome [RCV000055005]|not provided [RCV000725839]|not specified [RCV000122184] Chr9:132925604 [GRCh38]
Chr9:135800991 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013706]|Tuberous sclerosis 1 [RCV000555785]|Tuberous sclerosis syndrome [RCV000055006] Chr9:132905656 [GRCh38]
Chr9:135781043 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563418]|Isolated focal cortical dysplasia type II [RCV000296323]|Tuberous sclerosis 1 [RCV000234681]|Tuberous sclerosis syndrome [RCV000055007]|not provided [RCV003884344]|not specified [RCV000193910] Chr9:132896343 [GRCh38]
Chr9:135771730 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217275]|Tuberous sclerosis 1 [RCV000642024]|Tuberous sclerosis syndrome [RCV000055009]|not provided [RCV000725515] Chr9:132911059 [GRCh38]
Chr9:135786446 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.542A>C (p.His181Pro) single nucleotide variant Tuberous sclerosis 1 [RCV002273951]|Tuberous sclerosis syndrome [RCV000055010] Chr9:132921940 [GRCh38]
Chr9:135797327 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.4(TSC1):c.2096_2097ins28 (p.?) insertion Tuberous sclerosis syndrome [RCV000055011] Chr9:132903762..132903763 [GRCh38]
Chr9:135779149..135779150 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2582del (p.Leu861fs) deletion Tuberous sclerosis 1 [RCV001199391]|Tuberous sclerosis syndrome [RCV000055013] Chr9:132900758 [GRCh38]
Chr9:135776145 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2976-18T>C single nucleotide variant Tuberous sclerosis 1 [RCV002054884]|Tuberous sclerosis syndrome [RCV000055014] Chr9:132896772 [GRCh38]
Chr9:135772159 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000201058]|Tuberous sclerosis syndrome [RCV000055015] Chr9:132912329 [GRCh38]
Chr9:135787716 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.590dup (p.Cys197fs) duplication Tuberous sclerosis syndrome [RCV000055016] Chr9:132921891..132921892 [GRCh38]
Chr9:135797278..135797279 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2046_2047del (p.Pro683fs) microsatellite Tuberous sclerosis syndrome [RCV000055017] Chr9:132903812..132903813 [GRCh38]
Chr9:135779199..135779200 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.989del (p.Leu330fs) deletion Tuberous sclerosis 1 [RCV001250495]|Tuberous sclerosis syndrome [RCV000055018] Chr9:132911493 [GRCh38]
Chr9:135786880 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426611]|Tuberous sclerosis 1 [RCV000201112]|Tuberous sclerosis syndrome [RCV000055019]|not provided [RCV002508192] Chr9:132897538 [GRCh38]
Chr9:135772925 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.814G>T (p.Glu272Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000055020] Chr9:132912381 [GRCh38]
Chr9:135787768 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016484]|Lymphangiomyomatosis [RCV002483081]|Tuberous sclerosis 1 [RCV000531979]|Tuberous sclerosis syndrome [RCV000055021] Chr9:132897487 [GRCh38]
Chr9:135772874 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.276_277insAA (p.Leu93fs) insertion Tuberous sclerosis syndrome [RCV000055022] Chr9:132925673..132925674 [GRCh38]
Chr9:135801060..135801061 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000055023]|not provided [RCV000521121] Chr9:132903731 [GRCh38]
Chr9:135779118 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.2485A>T (p.Ser829Cys) single nucleotide variant Tuberous sclerosis syndrome [RCV000055024] Chr9:132901606 [GRCh38]
Chr9:135776993 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*107T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000357649]|Tuberous sclerosis 1 [RCV001095297]|Tuberous sclerosis syndrome [RCV000055025] Chr9:132896128 [GRCh38]
Chr9:135771515 [GRCh37]
Chr9:9q34.13		 benign|likely benign|not provided
NM_000368.5(TSC1):c.663+29A>G single nucleotide variant Tuberous sclerosis syndrome [RCV000055026] Chr9:132921790 [GRCh38]
Chr9:135797177 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2672del (p.Asn891fs) deletion Tuberous sclerosis 1 [RCV000201176]|Tuberous sclerosis syndrome [RCV000055029] Chr9:132897564 [GRCh38]
Chr9:135772951 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1515_1516dup (p.Pro506fs) microsatellite Tuberous sclerosis syndrome [RCV000055030] Chr9:132906061..132906062 [GRCh38]
Chr9:135781448..135781449 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.737+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381356]|Tuberous sclerosis syndrome [RCV000055031]|not provided [RCV000498128] Chr9:132921362 [GRCh38]
Chr9:135796749 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|not provided
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002513716]|Tuberous sclerosis syndrome [RCV000055032]|not provided [RCV003480047] Chr9:132923383 [GRCh38]
Chr9:135798770 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance|not provided
NM_000368.5(TSC1):c.1503del (p.Gly502fs) deletion Tuberous sclerosis syndrome [RCV000055033] Chr9:132906075 [GRCh38]
Chr9:135781462 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.1998-53G>A single nucleotide variant Tuberous sclerosis syndrome [RCV000055034] Chr9:132904507 [GRCh38]
Chr9:135779894 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.*3258G>C single nucleotide variant Tuberous sclerosis syndrome [RCV000055035] Chr9:132892977 [GRCh38]
Chr9:135768364 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.2226A>G (p.Leu742=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426612]|Tuberous sclerosis 1 [RCV000642068]|Tuberous sclerosis syndrome [RCV000055037] Chr9:132902770 [GRCh38]
Chr9:135778157 [GRCh37]
Chr9:9q34.13		 likely benign|not provided
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter) single nucleotide variant Lymphangiomyomatosis [RCV002496734]|Tuberous sclerosis 1 [RCV001853084]|Tuberous sclerosis syndrome [RCV000055038] Chr9:132897460 [GRCh38]
Chr9:135772847 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570274]|Isolated focal cortical dysplasia type II [RCV001167777]|Tuberous sclerosis 1 [RCV000226919]|Tuberous sclerosis syndrome [RCV000055039]|not provided [RCV001719803]|not specified [RCV000189812] Chr9:132905878 [GRCh38]
Chr9:135781265 [GRCh37]
Chr9:9q34.13		 likely pathogenic|benign|likely benign|not provided
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs) deletion Tuberous sclerosis 1 [RCV000660338] Chr9:132905792..132905796 [GRCh38]
Chr9:135781179..135781183 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332218]|not provided [RCV000657714] Chr9:132897293 [GRCh38]
Chr9:135772680 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.769_776del (p.Ile257fs) deletion Tuberous sclerosis 1 [RCV000660332] Chr9:132912419..132912426 [GRCh38]
Chr9:135787806..135787813 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs) deletion Tuberous sclerosis 1 [RCV000660334] Chr9:132911463..132911469 [GRCh38]
Chr9:135786850..135786856 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.509-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV000660330] Chr9:132921974 [GRCh38]
Chr9:135797361 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.-80-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256048]|not provided [RCV001577241]|not specified [RCV000119925] Chr9:132928954 [GRCh38]
Chr9:135804341 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562597]|Ovarian cancer [RCV003153402]|Tuberous sclerosis 1 [RCV000475364]|not provided [RCV001704038]|not specified [RCV000122188] Chr9:132906800 [GRCh38]
Chr9:135782187 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163665]|TSC1-related condition [RCV003945105]|Tuberous sclerosis 1 [RCV001080054]|not provided [RCV000725780]|not specified [RCV000122190] Chr9:132905657 [GRCh38]
Chr9:135781044 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001320522]|not specified [RCV000122192] Chr9:132902775 [GRCh38]
Chr9:135778162 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321603]|Tuberous sclerosis 1 [RCV000545661]|not provided [RCV001707532]|not specified [RCV000122195] Chr9:132896590 [GRCh38]
Chr9:135771977 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance|not provided
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321604]|Tuberous sclerosis 1 [RCV000534056]|not specified [RCV000122197] Chr9:132896561 [GRCh38]
Chr9:135771948 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1029+34C>G single nucleotide variant not specified [RCV000119924] Chr9:132911419 [GRCh38]
Chr9:135786806 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.-99C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000260766]|Tuberous sclerosis 1 [RCV000315980]|not specified [RCV000125619] Chr9:132935051 [GRCh38]
Chr9:135810438 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.-68C>T single nucleotide variant not specified [RCV000125620] Chr9:132928940 [GRCh38]
Chr9:135804327 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.201A>G (p.Pro67=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567969]|Tuberous sclerosis 1 [RCV001082445]|not provided [RCV000731870]|not specified [RCV000125623] Chr9:132927210 [GRCh38]
Chr9:135802597 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164124]|Isolated focal cortical dysplasia type II [RCV001167776]|Tuberous sclerosis 1 [RCV001081294]|not provided [RCV000713906]|not specified [RCV000174843] Chr9:132905877 [GRCh38]
Chr9:135781264 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163606]|Isolated focal cortical dysplasia type II [RCV000349110]|Tuberous sclerosis 1 [RCV001084306]|not provided [RCV000487765]|not specified [RCV000125630] Chr9:132905601 [GRCh38]
Chr9:135780988 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1998-19T>G single nucleotide variant Tuberous sclerosis 1 [RCV002055587]|not specified [RCV000125631] Chr9:132904473 [GRCh38]
Chr9:135779860 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2502+18A>C single nucleotide variant Lymphangiomyomatosis [RCV002498608]|Tuberous sclerosis 1 [RCV002055588]|not provided [RCV003221814]|not specified [RCV000125632] Chr9:132901571 [GRCh38]
Chr9:135776958 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166709]|Tuberous sclerosis 1 [RCV001302993] Chr9:132903814 [GRCh38]
Chr9:135779201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001333393] Chr9:132904440 [GRCh38]
Chr9:135779827 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) deletion Tuberous sclerosis 1 [RCV000176033]|not provided [RCV000724294] Chr9:132900822..132900825 [GRCh38]
Chr9:135776209..135776212 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001303093] Chr9:132896684 [GRCh38]
Chr9:135772071 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002256092]|Lymphangiomyomatosis [RCV002500484]|Tuberous sclerosis 1 [RCV000202711]|not provided [RCV000588303]|not specified [RCV000176156] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2626-5_2626-4del deletion Hereditary cancer-predisposing syndrome [RCV002256093]|Lymphangiomyomatosis [RCV002221210]|Lymphangiomyomatosis [RCV002478574]|Tuberous sclerosis 1 [RCV001520755]|not provided [RCV001668337]|not specified [RCV000176158] Chr9:132897614..132897615 [GRCh38]
Chr9:135773001..135773002 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001302784] Chr9:132903760 [GRCh38]
Chr9:135779147 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-16T>C single nucleotide variant Tuberous sclerosis 1 [RCV002126181]|not specified [RCV003987981] Chr9:132912473 [GRCh38]
Chr9:135787860 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.380T>C (p.Val127Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001349532] Chr9:132923476 [GRCh38]
Chr9:135798863 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-3C>A single nucleotide variant Tuberous sclerosis 1 [RCV001312576] Chr9:132907373 [GRCh38]
Chr9:135782760 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130315]|Isolated focal cortical dysplasia type II [RCV000295067]|Lymphangiomyomatosis [RCV002492502]|TSC1-related condition [RCV003935217]|Tuberous sclerosis 1 [RCV000464079]|not provided [RCV001579757]|not specified [RCV000189851] Chr9:132905642 [GRCh38]
Chr9:135781029 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130736]|Lymphangiomyomatosis [RCV000764813]|Tuberous sclerosis 1 [RCV001084392]|not provided [RCV000726223] Chr9:132911541 [GRCh38]
Chr9:135786928 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256088]|TSC1-related condition [RCV003895063]|Tuberous sclerosis 1 [RCV000642093]|not provided [RCV001534588]|not specified [RCV000156566] Chr9:132910583 [GRCh38]
Chr9:135785970 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.4(TSC1):c.2626-4_2626-3insTT insertion Tuberous sclerosis 1 [RCV000202910]|not provided [RCV000176155] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 benign|other|not provided
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571983]|Tuberous sclerosis 1 [RCV001088675]|not provided [RCV000176157] Chr9:132897582 [GRCh38]
Chr9:135772969 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164473]|Tuberous sclerosis 1 [RCV001086626]|not provided [RCV000439211] Chr9:132903794 [GRCh38]
Chr9:135779181 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164860]|Tuberous sclerosis 1 [RCV000983928] Chr9:132902684 [GRCh38]
Chr9:135778071 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1239G>A (p.Gln413=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167138] Chr9:132910595 [GRCh38]
Chr9:135785982 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167260]|Isolated focal cortical dysplasia type II [RCV001167197]|Tuberous sclerosis 1 [RCV001167198] Chr9:132905827 [GRCh38]
Chr9:135781214 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.574T>C (p.Tyr192His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165848] Chr9:132921908 [GRCh38]
Chr9:135797295 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165896]|Tuberous sclerosis 1 [RCV000468971]|not provided [RCV001721075]|not specified [RCV001818385] Chr9:132905893 [GRCh38]
Chr9:135781280 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163403]|Tuberous sclerosis 1 [RCV000232827]|not provided [RCV001704164] Chr9:132896520 [GRCh38]
Chr9:135771907 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3048T>C (p.Gly1016=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167404] Chr9:132896682 [GRCh38]
Chr9:135772069 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166118]|Tuberous sclerosis 1 [RCV001082367]|not provided [RCV000733529] Chr9:132896706 [GRCh38]
Chr9:135772093 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166123]|Lymphangiomyomatosis [RCV002485028]|Tuberous sclerosis 1 [RCV000543698] Chr9:132902760 [GRCh38]
Chr9:135778147 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163671]|Isolated focal cortical dysplasia type II [RCV001165537]|TSC1-related condition [RCV003945275]|Tuberous sclerosis 1 [RCV000231914]|not provided [RCV001704175] Chr9:132897237 [GRCh38]
Chr9:135772624 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163698]|Tuberous sclerosis 1 [RCV000641974] Chr9:132903802 [GRCh38]
Chr9:135779189 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163699]|Tuberous sclerosis 1 [RCV000641964] Chr9:132905998 [GRCh38]
Chr9:135781385 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163800]|Isolated focal cortical dysplasia type II [RCV000318765]|Tuberous sclerosis 1 [RCV000234154]|not provided [RCV001721055]|not specified [RCV000176365] Chr9:132896295 [GRCh38]
Chr9:135771682 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2577C>T (p.Asn859=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166353]|Tuberous sclerosis 1 [RCV001472868] Chr9:132900763 [GRCh38]
Chr9:135776150 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163960]|Tuberous sclerosis 1 [RCV001079421]|not provided [RCV000766818]|not specified [RCV000241553] Chr9:132923477 [GRCh38]
Chr9:135798864 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166487]|Tuberous sclerosis 1 [RCV001464585] Chr9:132900826 [GRCh38]
Chr9:135776213 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.21C>T (p.Val7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166491]|TSC1-related condition [RCV003895151]|Tuberous sclerosis 1 [RCV000642089]|not provided [RCV001697200] Chr9:132928852 [GRCh38]
Chr9:135804239 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164106]|Isolated focal cortical dysplasia type II [RCV003474851]|Tuberous sclerosis 1 [RCV000463228] Chr9:132896322 [GRCh38]
Chr9:135771709 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298222]|Isolated focal cortical dysplasia type II [RCV003474931]|Tuberous sclerosis 1 [RCV000642039]|not provided [RCV000724617] Chr9:132896452 [GRCh38]
Chr9:135771839 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001852173]|not provided [RCV000176367] Chr9:132896383 [GRCh38]
Chr9:135771770 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.-33C>T single nucleotide variant not specified [RCV000189804] Chr9:132928905 [GRCh38]
Chr9:135804292 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399706]|Tuberous sclerosis 1 [RCV000228527]|not specified [RCV000189809] Chr9:132911089 [GRCh38]
Chr9:135786476 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017516]|Tuberous sclerosis 1 [RCV000819696]|not provided [RCV003488444]|not specified [RCV000189822] Chr9:132897233 [GRCh38]
Chr9:135772620 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018192]|Tuberous sclerosis 1 [RCV000641967] Chr9:132896698 [GRCh38]
Chr9:135772085 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321765]|Tuberous sclerosis 1 [RCV000803859]|not specified [RCV000189824] Chr9:132896644 [GRCh38]
Chr9:135772031 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020374]|Tuberous sclerosis 1 [RCV000697883]|not specified [RCV000189830] Chr9:132896261 [GRCh38]
Chr9:135771648 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575687]|TSC1-related condition [RCV003955133]|Tuberous sclerosis 1 [RCV000230335]|not provided [RCV000189831] Chr9:132928784 [GRCh38]
Chr9:135804171 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001224585]|not provided [RCV000189833] Chr9:132925646 [GRCh38]
Chr9:135801033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.365T>C (p.Met122Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505101]|not provided [RCV000189834] Chr9:132923491 [GRCh38]
Chr9:135798878 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426917]|Tuberous sclerosis 1 [RCV000800629] Chr9:132912371 [GRCh38]
Chr9:135787758 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372157]|Tuberous sclerosis 1 [RCV000642034]|not provided [RCV000189843] Chr9:132912297 [GRCh38]
Chr9:135787684 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433858]|Tuberous sclerosis 1 [RCV001852520]|not provided [RCV000189845] Chr9:132911034 [GRCh38]
Chr9:135786421 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000690001]|not provided [RCV000189850] Chr9:132905978 [GRCh38]
Chr9:135781365 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372645]|Tuberous sclerosis 1 [RCV003505102]|not provided [RCV000189854] Chr9:132903688 [GRCh38]
Chr9:135779075 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453702]|Ovarian cancer [RCV003153464]|Tuberous sclerosis 1 [RCV000558000]|not provided [RCV000189855] Chr9:132902621 [GRCh38]
Chr9:135778008 [GRCh37]
Chr9:9q34.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561979]|Tuberous sclerosis 1 [RCV000233178]|not provided [RCV001705063] Chr9:132896650 [GRCh38]
Chr9:135772037 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000557141]|not provided [RCV000189858] Chr9:132896644 [GRCh38]
Chr9:135772031 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256098]|Tuberous sclerosis 1 [RCV001079866]|not provided [RCV000189860] Chr9:132896600 [GRCh38]
Chr9:135771987 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001857663]|not provided [RCV000189862] Chr9:132896480 [GRCh38]
Chr9:135771867 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.587del (p.Pro196fs) deletion Tuberous sclerosis 1 [RCV002517903]|not provided [RCV000189864] Chr9:132921895 [GRCh38]
Chr9:135797282 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.737_737+1dup duplication not provided [RCV000189865] Chr9:132921361..132921362 [GRCh38]
Chr9:135796748..135796749 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1441del (p.Ala481fs) deletion not provided [RCV000189867] Chr9:132906137 [GRCh38]
Chr9:135781524 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321768]|Tuberous sclerosis 1 [RCV000227853]|not provided [RCV000189871] Chr9:132896419 [GRCh38]
Chr9:135771806 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-144G>A single nucleotide variant Tuberous sclerosis 1 [RCV000988282]|not provided [RCV000189872] Chr9:132944543 [GRCh38]
Chr9:135819930 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) deletion Tuberous sclerosis 1 [RCV002514075]|not provided [RCV003886384]|not specified [RCV000189874] Chr9:132906738..132906740 [GRCh38]
Chr9:135782125..135782127 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1509dup (p.Asp504Ter) duplication not provided [RCV000189875] Chr9:132906068..132906069 [GRCh38]
Chr9:135781455..135781456 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1713del (p.Glu571fs) deletion not provided [RCV000189876] Chr9:132905865 [GRCh38]
Chr9:135781252 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.-36C>T single nucleotide variant not provided [RCV001705058] Chr9:132928908 [GRCh38]
Chr9:135804295 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-20C>T single nucleotide variant not specified [RCV000189805] Chr9:132928892 [GRCh38]
Chr9:135804279 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575230]|Tuberous sclerosis 1 [RCV000473657]|not provided [RCV001705059] Chr9:132911092 [GRCh38]
Chr9:135786479 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017276]|Tuberous sclerosis 1 [RCV000225784]|not provided [RCV001355439]|not specified [RCV000189810] Chr9:132911046 [GRCh38]
Chr9:135786433 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574453]|Tuberous sclerosis 1 [RCV001082340]|not provided [RCV000189813] Chr9:132905857 [GRCh38]
Chr9:135781244 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013102]|Tuberous sclerosis 1 [RCV001079404]|not provided [RCV000726144] Chr9:132905803 [GRCh38]
Chr9:135781190 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013251]|Tuberous sclerosis 1 [RCV000474065]|not provided [RCV001705060] Chr9:132905770 [GRCh38]
Chr9:135781157 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013799]|Tuberous sclerosis 1 [RCV001082729]|not provided [RCV000782213] Chr9:132905635 [GRCh38]
Chr9:135781022 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014108]|Tuberous sclerosis 1 [RCV001083108]|not provided [RCV000189817] Chr9:132904426 [GRCh38]
Chr9:135779813 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002314772]|TSC1-related condition [RCV003947587]|Tuberous sclerosis 1 [RCV001081924]|not provided [RCV000732642]|not specified [RCV000189818] Chr9:132903744 [GRCh38]
Chr9:135779131 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2209-9C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256097]|Isolated focal cortical dysplasia type II [RCV000266169]|Tuberous sclerosis 1 [RCV000233096]|not provided [RCV001705061]|not specified [RCV000189819] Chr9:132902796 [GRCh38]
Chr9:135778183 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2392-16A>G single nucleotide variant Tuberous sclerosis 1 [RCV001857662]|not provided [RCV001579659]|not specified [RCV000189821] Chr9:132901715 [GRCh38]
Chr9:135777102 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257479]|Isolated focal cortical dysplasia type II [RCV000341814]|TSC1-related condition [RCV003416119]|Tuberous sclerosis 1 [RCV000225953]|not provided [RCV001705062] Chr9:132896607 [GRCh38]
Chr9:135771994 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321766]|TSC1-related condition [RCV003895230]|Tuberous sclerosis 1 [RCV001852519]|not specified [RCV000189826] Chr9:132896597 [GRCh38]
Chr9:135771984 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.214C>G (p.Leu72Val) single nucleotide variant Tuberous sclerosis 1 [RCV000845008] Chr9:132925736 [GRCh38]
Chr9:135801123 [GRCh37]
Chr9:9q34.13		 likely pathogenic|not provided
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399707]|Isolated focal cortical dysplasia type II [RCV000376049]|Tuberous sclerosis 1 [RCV000641992]|not provided [RCV000189841] Chr9:132912423 [GRCh38]
Chr9:135787810 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257480]|TSC1-related condition [RCV003895231]|Tuberous sclerosis 1 [RCV001089004]|not provided [RCV000189844] Chr9:132911536 [GRCh38]
Chr9:135786923 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574822]|TSC1-related condition [RCV003895232]|Tuberous sclerosis 1 [RCV001087970]|not provided [RCV000189846] Chr9:132907302 [GRCh38]
Chr9:135782689 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012122]|TSC1-related condition [RCV003401036]|Tuberous sclerosis 1 [RCV001078761]|not provided [RCV000189848] Chr9:132906028 [GRCh38]
Chr9:135781415 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570020]|Tuberous sclerosis 1 [RCV001323564]|not provided [RCV000727040] Chr9:132896735 [GRCh38]
Chr9:135772122 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018741]|Tuberous sclerosis 1 [RCV001080753]|not provided [RCV000189859]|not specified [RCV001818461] Chr9:132896605 [GRCh38]
Chr9:135771992 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321767]|Tuberous sclerosis 1 [RCV000535131]|not provided [RCV001705064] Chr9:132896536 [GRCh38]
Chr9:135771923 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019673]|Tuberous sclerosis 1 [RCV001085451]|not provided [RCV000189863] Chr9:132896441 [GRCh38]
Chr9:135771828 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs) deletion Tuberous sclerosis 1 [RCV000201049]|Tuberous sclerosis syndrome [RCV000042241] Chr9:132897560..132897561 [GRCh38]
Chr9:135772947..135772948 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013195]|TSC1-related condition [RCV003897453]|Tuberous sclerosis 1 [RCV001087929]|not provided [RCV000828746]|not specified [RCV001002398] Chr9:132905784 [GRCh38]
Chr9:135781171 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429196]|Tuberous sclerosis 1 [RCV001859489]|not provided [RCV000255336] Chr9:132900747 [GRCh38]
Chr9:135776134 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.782A>C (p.Lys261Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563345] Chr9:132912413 [GRCh38]
Chr9:135787800 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566744]|Tuberous sclerosis 1 [RCV000528961] Chr9:132896464 [GRCh38]
Chr9:135771851 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018475]|Lymphangiomyomatosis [RCV002497130]|Tuberous sclerosis 1 [RCV000543802] Chr9:132896655 [GRCh38]
Chr9:135772042 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2613A>G (p.Ser871=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438378]|Tuberous sclerosis 1 [RCV000546764] Chr9:132900727 [GRCh38]
Chr9:135776114 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.942G>A (p.Thr314=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448705]|Tuberous sclerosis 1 [RCV000545004]|not provided [RCV001729630]|not specified [RCV001729631] Chr9:132911540 [GRCh38]
Chr9:135786927 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.87T>C (p.Phe29=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562628]|Tuberous sclerosis 1 [RCV001081420]|not provided [RCV003389738] Chr9:132928786 [GRCh38]
Chr9:135804173 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377087]|Tuberous sclerosis 1 [RCV000545026]|not provided [RCV001591236] Chr9:132911462 [GRCh38]
Chr9:135786849 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.976C>T (p.Leu326=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377090]|Tuberous sclerosis 1 [RCV000545778] Chr9:132911506 [GRCh38]
Chr9:135786893 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2372A>G (p.Asn791Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219599] Chr9:132902624 [GRCh38]
Chr9:135778011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1167A>T (p.Gly389=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215315]|Tuberous sclerosis 1 [RCV000471196] Chr9:132910667 [GRCh38]
Chr9:135786054 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217111]|TSC1-related condition [RCV003937858]|Tuberous sclerosis 1 [RCV000231545]|not provided [RCV001572547] Chr9:132905700 [GRCh38]
Chr9:135781087 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222045]|Tuberous sclerosis 1 [RCV001853563] Chr9:132925602 [GRCh38]
Chr9:135800989 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217344]|Tuberous sclerosis 1 [RCV001415504] Chr9:132905829 [GRCh38]
Chr9:135781216 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.287T>C (p.Val96Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220036]|Tuberous sclerosis 1 [RCV001041403] Chr9:132925663 [GRCh38]
Chr9:135801050 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019826]|Tuberous sclerosis 1 [RCV000542328] Chr9:132896425 [GRCh38]
Chr9:135771812 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213461]|Tuberous sclerosis 1 [RCV000799771]|not provided [RCV001562491] Chr9:132896434 [GRCh38]
Chr9:135771821 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220194]|Tuberous sclerosis 1 [RCV000795834] Chr9:132911052 [GRCh38]
Chr9:135786439 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1863C>T (p.Ile621=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372746]|Tuberous sclerosis 1 [RCV000529051] Chr9:132905715 [GRCh38]
Chr9:135781102 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213677]|Tuberous sclerosis 1 [RCV000475045] Chr9:132897221 [GRCh38]
Chr9:135772608 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215503]|Tuberous sclerosis 1 [RCV001434005] Chr9:132903774 [GRCh38]
Chr9:135779161 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217823]|Tuberous sclerosis 1 [RCV000817344] Chr9:132911085 [GRCh38]
Chr9:135786472 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221166]|TSC1-related condition [RCV003417788]|Tuberous sclerosis 1 [RCV000966584] Chr9:132911550 [GRCh38]
Chr9:135786937 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221168]|Tuberous sclerosis 1 [RCV000553423] Chr9:132927203 [GRCh38]
Chr9:135802590 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214697]|Tuberous sclerosis 1 [RCV001036709] Chr9:132903787 [GRCh38]
Chr9:135779174 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2307C>T (p.Asp769=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219386]|Tuberous sclerosis 1 [RCV001397172] Chr9:132902689 [GRCh38]
Chr9:135778076 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.798C>T (p.Pro266=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570621]|Tuberous sclerosis 1 [RCV000227844] Chr9:132912397 [GRCh38]
Chr9:135787784 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321855]|TSC1-related condition [RCV003390983]|Tuberous sclerosis 1 [RCV000229859]|not provided [RCV001589171] Chr9:132896605 [GRCh38]
Chr9:135771992 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024697]|Tuberous sclerosis 1 [RCV000229975] Chr9:132921889 [GRCh38]
Chr9:135797276 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2901C>T (p.Gly967=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433953]|Tuberous sclerosis 1 [RCV000230250] Chr9:132897258 [GRCh38]
Chr9:135772645 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571783]|Isolated focal cortical dysplasia type II [RCV000308169]|Tuberous sclerosis 1 [RCV000228779]|not provided [RCV003477792]|not specified [RCV000241773] Chr9:132905805 [GRCh38]
Chr9:135781192 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429096]|Tuberous sclerosis 1 [RCV000228933]|not provided [RCV001582763] Chr9:132900820 [GRCh38]
Chr9:135776207 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563268]|Isolated focal cortical dysplasia type II [RCV001169542]|Tuberous sclerosis 1 [RCV000229256]|not provided [RCV001568881] Chr9:132896725 [GRCh38]
Chr9:135772112 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017933]|TSC1-related condition [RCV003407768]|Tuberous sclerosis 1 [RCV000231351]|not provided [RCV001575957] Chr9:132912345 [GRCh38]
Chr9:135787732 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.479G>A (p.Arg160His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023070]|Ovarian cancer [RCV003153524]|Tuberous sclerosis 1 [RCV001084683]|not provided [RCV000361865] Chr9:132923377 [GRCh38]
Chr9:135798764 [GRCh37]
Chr9:9q34.13		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2814-9A>G single nucleotide variant Tuberous sclerosis 1 [RCV000226210] Chr9:132897354 [GRCh38]
Chr9:135772741 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256133]|Tuberous sclerosis 1 [RCV000231359] Chr9:132896304 [GRCh38]
Chr9:135771691 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1530_1531del (p.Asp510fs) deletion Tuberous sclerosis 1 [RCV000227889]|Tuberous sclerosis syndrome [RCV000042045] Chr9:132906047..132906048 [GRCh38]
Chr9:135781434..135781435 [GRCh37]
Chr9:9q34.13		 pathogenic|not provided
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372256]|Tuberous sclerosis 1 [RCV000228613] Chr9:132912314 [GRCh38]
Chr9:135787701 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429095]|TSC1-related condition [RCV003897522]|Tuberous sclerosis 1 [RCV000231478]|not provided [RCV001722213] Chr9:132911033 [GRCh38]
Chr9:135786420 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014736]|Tuberous sclerosis 1 [RCV000229210] Chr9:132903664 [GRCh38]
Chr9:135779051 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010360]|Isolated focal cortical dysplasia type II [RCV003469148]|Tuberous sclerosis 1 [RCV000229298]|not provided [RCV001813773] Chr9:132910578 [GRCh38]
Chr9:135785965 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014216]|Tuberous sclerosis 1 [RCV000229562]|not provided [RCV001556315] Chr9:132903795 [GRCh38]
Chr9:135779182 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565586]|Lymphangiomyomatosis [RCV002503890]|Tuberous sclerosis 1 [RCV000233351]|not provided [RCV003430779]|not specified [RCV000606055] Chr9:132910577 [GRCh38]
Chr9:135785964 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.273G>A (p.Ser91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573437]|Isolated focal cortical dysplasia type II [RCV000403188]|Lymphangiomyomatosis [RCV002494623]|Tuberous sclerosis 1 [RCV000232442]|not provided [RCV001682935]|not specified [RCV000245356] Chr9:132925677 [GRCh38]
Chr9:135801064 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs) deletion Tuberous sclerosis 1 [RCV000230614] Chr9:132896361..132896362 [GRCh38]
Chr9:135771748..135771749 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027171]|Isolated focal cortical dysplasia type II [RCV003475059]|Tuberous sclerosis 1 [RCV000230751]|not provided [RCV003237786] Chr9:132912386 [GRCh38]
Chr9:135787773 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1614C>T (p.Ser538=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399812]|Tuberous sclerosis 1 [RCV000230799] Chr9:132905964 [GRCh38]
Chr9:135781351 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019213]|Tuberous sclerosis 1 [RCV000231156]|not provided [RCV003311718] Chr9:132896523 [GRCh38]
Chr9:135771910 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015473]|Lymphangiomyomatosis [RCV002500758]|TSC1-related condition [RCV003947749]|Tuberous sclerosis 1 [RCV000233834]|not provided [RCV001545419] Chr9:132901668 [GRCh38]
Chr9:135777055 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255322]|Tuberous sclerosis 1 [RCV001085260]|not provided [RCV000232948] Chr9:132912413 [GRCh38]
Chr9:135787800 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566199]|Lymphangiomyomatosis [RCV002478836]|Tuberous sclerosis 1 [RCV000232989] Chr9:132906072 [GRCh38]
Chr9:135781459 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1065G>A (p.Met355Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000232012] Chr9:132911078 [GRCh38]
Chr9:135786465 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566627]|Isolated focal cortical dysplasia type II [RCV000270939]|Tuberous sclerosis 1 [RCV000227461] Chr9:132912376 [GRCh38]
Chr9:135787763 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.915G>C (p.Gly305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563469]|Isolated focal cortical dysplasia type II [RCV000368800]|Tuberous sclerosis 1 [RCV001083498]|not provided [RCV000713911]|not specified [RCV000242646] Chr9:132911567 [GRCh38]
Chr9:135786954 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010703]|Tuberous sclerosis 1 [RCV001081666]|not provided [RCV000726384]|not specified [RCV000407254] Chr9:132907358 [GRCh38]
Chr9:135782745 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.810A>G (p.Ser270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564256]|Tuberous sclerosis 1 [RCV000233543]|not specified [RCV000242871] Chr9:132912385 [GRCh38]
Chr9:135787772 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.876C>T (p.Val292=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568276]|Isolated focal cortical dysplasia type II [RCV000276640]|Tuberous sclerosis 1 [RCV000233722]|not provided [RCV001668392]|not specified [RCV000247745] Chr9:132912319 [GRCh38]
Chr9:135787706 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1701G>C (p.Ala567=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399813]|Tuberous sclerosis 1 [RCV000233756] Chr9:132905877 [GRCh38]
Chr9:135781264 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-1G>T single nucleotide variant Tuberous sclerosis 1 [RCV000228255] Chr9:132904455 [GRCh38]
Chr9:135779842 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573300]|Isolated focal cortical dysplasia type II [RCV001169544]|Tuberous sclerosis 1 [RCV000226388]|not provided [RCV001536549] Chr9:132897191 [GRCh38]
Chr9:135772578 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.509-10C>T single nucleotide variant Tuberous sclerosis 1 [RCV000226460] Chr9:132921983 [GRCh38]
Chr9:135797370 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257532]|Tuberous sclerosis 1 [RCV000234720]|not specified [RCV000611707] Chr9:132905904 [GRCh38]
Chr9:135781291 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020245]|Tuberous sclerosis 1 [RCV000228446] Chr9:132896314 [GRCh38]
Chr9:135771701 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1105C>A (p.Leu369Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165601]|Tuberous sclerosis 1 [RCV000228703] Chr9:132911038 [GRCh38]
Chr9:135786425 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1006C>A (p.Arg336=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417994]|Tuberous sclerosis 1 [RCV000234765] Chr9:132911476 [GRCh38]
Chr9:135786863 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573643]|Tuberous sclerosis 1 [RCV000560409]|not provided [RCV001574705] Chr9:132907319 [GRCh38]
Chr9:135782706 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1 copy number loss See cases [RCV000239968] Chr9:135771359..135821093 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562783]|Tuberous sclerosis 1 [RCV001342247] Chr9:132896615 [GRCh38]
Chr9:135772002 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.456del (p.Asp153fs) deletion not provided [RCV000516263] Chr9:132923400 [GRCh38]
Chr9:135798787 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563196]|Lymphangiomyomatosis [RCV002491142]|Tuberous sclerosis 1 [RCV000796947] Chr9:132897277 [GRCh38]
Chr9:135772664 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014009]|TSC1-related condition [RCV003900178]|Tuberous sclerosis 1 [RCV000546131] Chr9:132905581 [GRCh38]
Chr9:135780968 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563536]|Tuberous sclerosis 1 [RCV000538760] Chr9:132905662 [GRCh38]
Chr9:135781049 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563590]|Lymphangiomyomatosis [RCV000764814]|Tuberous sclerosis 1 [RCV000641975]|not provided [RCV003431131] Chr9:132921964 [GRCh38]
Chr9:135797351 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.738-2A>T single nucleotide variant Tuberous sclerosis 1 [RCV000804352]|not provided [RCV000309855] Chr9:132912459 [GRCh38]
Chr9:135787846 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573461]|Tuberous sclerosis 1 [RCV000538042] Chr9:132896277 [GRCh38]
Chr9:135771664 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2682T>C (p.His894=) single nucleotide variant Tuberous sclerosis 1 [RCV000526463] Chr9:132897554 [GRCh38]
Chr9:135772941 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002528660]|not specified [RCV000606121] Chr9:132902801 [GRCh38]
Chr9:135778188 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.804A>G (p.Glu268=) single nucleotide variant Tuberous sclerosis 1 [RCV000525149] Chr9:132912391 [GRCh38]
Chr9:135787778 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564302]|Tuberous sclerosis 1 [RCV001308278] Chr9:132923411 [GRCh38]
Chr9:135798798 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2625+19G>A single nucleotide variant Tuberous sclerosis 1 [RCV001797697]|not specified [RCV000248833] Chr9:132900696 [GRCh38]
Chr9:135776083 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411112]|Tuberous sclerosis 1 [RCV000475779]|not provided [RCV001658164]|not specified [RCV000246586] Chr9:132905704 [GRCh38]
Chr9:135781091 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1248C>T (p.Val416=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392761]|Tuberous sclerosis 1 [RCV000555015]|not specified [RCV000254048] Chr9:132910586 [GRCh38]
Chr9:135785973 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255144]|Isolated focal cortical dysplasia type II [RCV001165674]|Lymphangiomyomatosis [RCV002487119]|Tuberous sclerosis 1 [RCV000466708]|not provided [RCV003884431]|not specified [RCV000249275] Chr9:132910616 [GRCh38]
Chr9:135786003 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2487_2490del (p.Ser829fs) microsatellite not provided [RCV000255937] Chr9:132901601..132901604 [GRCh38]
Chr9:135776988..135776991 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2392-8_2392-7del deletion Lymphangiomyomatosis [RCV002497129]|Tuberous sclerosis 1 [RCV001443010] Chr9:132901706..132901707 [GRCh38]
Chr9:135777093..135777094 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566528]|Tuberous sclerosis 1 [RCV001372095] Chr9:132911559 [GRCh38]
Chr9:135786946 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+8G>C single nucleotide variant Tuberous sclerosis 1 [RCV001515660]|not specified [RCV000252489] Chr9:132912274 [GRCh38]
Chr9:135787661 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.168G>A (p.Pro56=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257808]|Isolated focal cortical dysplasia type II [RCV001167929]|Tuberous sclerosis 1 [RCV000529635] Chr9:132927243 [GRCh38]
Chr9:135802630 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456131]|Tuberous sclerosis 1 [RCV000525563] Chr9:132897599 [GRCh38]
Chr9:135772986 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2976-10T>A single nucleotide variant Tuberous sclerosis 1 [RCV000548030] Chr9:132896764 [GRCh38]
Chr9:135772151 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413536]|Tuberous sclerosis 1 [RCV000552146]|not provided [RCV003235281] Chr9:132905629 [GRCh38]
Chr9:135781016 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1472C>T (p.Thr491Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000548301] Chr9:132906106 [GRCh38]
Chr9:135781493 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1333+14G>A single nucleotide variant Tuberous sclerosis 1 [RCV001797696]|not specified [RCV000245861] Chr9:132907287 [GRCh38]
Chr9:135782674 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015475]|TSC1-related condition [RCV003983114]|Tuberous sclerosis 1 [RCV000527976]|not provided [RCV001707730] Chr9:132901667 [GRCh38]
Chr9:135777054 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*4631del deletion Isolated focal cortical dysplasia type II [RCV000267246]|Tuberous sclerosis syndrome [RCV000361947] Chr9:132891604 [GRCh38]
Chr9:135766991 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.*2651G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000267797]|Tuberous sclerosis 1 [RCV000320617] Chr9:132893584 [GRCh38]
Chr9:135768971 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*3729G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000283606]|Tuberous sclerosis 1 [RCV000320042] Chr9:132892506 [GRCh38]
Chr9:135767893 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*4057G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000284180]|Tuberous sclerosis 1 [RCV000378628] Chr9:132892178 [GRCh38]
Chr9:135767565 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2168C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000301240]|Tuberous sclerosis 1 [RCV000390184] Chr9:132894067 [GRCh38]
Chr9:135769454 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*841C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000301132]|Tuberous sclerosis 1 [RCV000355850] Chr9:132895394 [GRCh38]
Chr9:135770781 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2874G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000343542]|Tuberous sclerosis 1 [RCV000377074] Chr9:132893361 [GRCh38]
Chr9:135768748 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*3830C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000268488]|Tuberous sclerosis 1 [RCV000363193]|not provided [RCV002263660] Chr9:132892405 [GRCh38]
Chr9:135767792 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*2872G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000337549]|Tuberous sclerosis 1 [RCV000285034] Chr9:132893363 [GRCh38]
Chr9:135768750 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2213C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000302572]|Tuberous sclerosis syndrome [RCV000359758] Chr9:132894022 [GRCh38]
Chr9:135769409 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4254G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000345150]|Tuberous sclerosis 1 [RCV000401546] Chr9:132891981 [GRCh38]
Chr9:135767368 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*376C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000269494]|Tuberous sclerosis 1 [RCV000329093]|not provided [RCV001692068] Chr9:132895859 [GRCh38]
Chr9:135771246 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*651C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000376560]|Tuberous sclerosis 1 [RCV000286702] Chr9:132895584 [GRCh38]
Chr9:135770971 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*941A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000397232]|Tuberous sclerosis 1 [RCV000347174] Chr9:132895294 [GRCh38]
Chr9:135770681 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*198T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000393414]|Tuberous sclerosis 1 [RCV000347092] Chr9:132896037 [GRCh38]
Chr9:135771424 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1680G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000369547]|Tuberous sclerosis 1 [RCV000270332] Chr9:132894555 [GRCh38]
Chr9:135769942 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*2022G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000287618]|Tuberous sclerosis syndrome [RCV000384170] Chr9:132894213 [GRCh38]
Chr9:135769600 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009638]|Isolated focal cortical dysplasia type II [RCV000343003]|TSC1-related condition [RCV003957866]|Tuberous sclerosis 1 [RCV000473305]|not provided [RCV001697770] Chr9:132911480 [GRCh38]
Chr9:135786867 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1322C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000360906]|Tuberous sclerosis 1 [RCV000305720] Chr9:132894913 [GRCh38]
Chr9:135770300 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*682C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000384645]|Tuberous sclerosis 1 [RCV000325392] Chr9:132895553 [GRCh38]
Chr9:135770940 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*1488C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000393355]|Tuberous sclerosis 1 [RCV000348515] Chr9:132894747 [GRCh38]
Chr9:135770134 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*3836G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000327208]|Tuberous sclerosis 1 [RCV000271593] Chr9:132892399 [GRCh38]
Chr9:135767786 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*279T>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000306295]|Tuberous sclerosis 1 [RCV000393191]|not provided [RCV003430961] Chr9:132895956 [GRCh38]
Chr9:135771343 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015949]|Isolated focal cortical dysplasia type II [RCV000394856]|Tuberous sclerosis 1 [RCV000530667]|not provided [RCV000828747] Chr9:132900784 [GRCh38]
Chr9:135776171 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2209-3T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014788]|Isolated focal cortical dysplasia type II [RCV000357586]|Tuberous sclerosis 1 [RCV000467930]|not provided [RCV001697785] Chr9:132902790 [GRCh38]
Chr9:135778177 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.-35G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000274094]|Tuberous sclerosis 1 [RCV000368695]|not specified [RCV000425430] Chr9:132928907 [GRCh38]
Chr9:135804294 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*677G>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000321987]|Tuberous sclerosis 1 [RCV000290081] Chr9:132895558 [GRCh38]
Chr9:135770945 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*2418G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000347796]|Tuberous sclerosis 1 [RCV000290505] Chr9:132893817 [GRCh38]
Chr9:135769204 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2904G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000274280]|Tuberous sclerosis 1 [RCV000371139]|not provided [RCV002263661] Chr9:132893331 [GRCh38]
Chr9:135768718 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*2094G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000327253]|Tuberous sclerosis 1 [RCV000274616] Chr9:132894141 [GRCh38]
Chr9:135769528 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*1052G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000386375]|Tuberous sclerosis 1 [RCV000331858] Chr9:132895183 [GRCh38]
Chr9:135770570 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2461G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000259344]|Tuberous sclerosis 1 [RCV000317045] Chr9:132893774 [GRCh38]
Chr9:135769161 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*4447C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000259417]|Tuberous sclerosis 1 [RCV000372705] Chr9:132891788 [GRCh38]
Chr9:135767175 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3952A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000275512]|Tuberous sclerosis 1 [RCV000370029] Chr9:132892283 [GRCh38]
Chr9:135767670 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*4763T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000310850]|Tuberous sclerosis 1 [RCV000365025] Chr9:132891472 [GRCh38]
Chr9:135766859 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*2109C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000332949]|Tuberous sclerosis 1 [RCV000366870]|not provided [RCV002275017] Chr9:132894126 [GRCh38]
Chr9:135769513 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*4437G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000387639]|Tuberous sclerosis 1 [RCV000333342] Chr9:132891798 [GRCh38]
Chr9:135767185 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*3565C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000348504]|Tuberous sclerosis 1 [RCV000293331] Chr9:132892670 [GRCh38]
Chr9:135768057 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4385G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000293564]|Tuberous sclerosis 1 [RCV000348440] Chr9:132891850 [GRCh38]
Chr9:135767237 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1507G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000293568]|Tuberous sclerosis 1 [RCV000373877] Chr9:132894728 [GRCh38]
Chr9:135770115 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*289del deletion Isolated focal cortical dysplasia type II [RCV000293271]|Tuberous sclerosis syndrome [RCV000352748]|not provided [RCV001598667] Chr9:132895946 [GRCh38]
Chr9:135771333 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*2637C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000293886]|Tuberous sclerosis 1 [RCV000394618] Chr9:132893598 [GRCh38]
Chr9:135768985 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*499C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000312242]|Tuberous sclerosis 1 [RCV000396478] Chr9:132895736 [GRCh38]
Chr9:135771123 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*60T>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000353756]|Tuberous sclerosis 1 [RCV000261183] Chr9:132896175 [GRCh38]
Chr9:135771562 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*2142T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000261443]|Tuberous sclerosis 1 [RCV000353798] Chr9:132894093 [GRCh38]
Chr9:135769480 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1275T>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000261435]|Tuberous sclerosis 1 [RCV000316720] Chr9:132894960 [GRCh38]
Chr9:135770347 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017692]|Isolated focal cortical dysplasia type II [RCV000300433]|TSC1-related condition [RCV003392219]|Tuberous sclerosis 1 [RCV000868465]|not provided [RCV001584094] Chr9:132897194 [GRCh38]
Chr9:135772581 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.*1508A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000278117]|Tuberous sclerosis 1 [RCV000337952] Chr9:132894727 [GRCh38]
Chr9:135770114 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*3679G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000374675]|Tuberous sclerosis 1 [RCV000278209] Chr9:132892556 [GRCh38]
Chr9:135767943 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*405A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000313509]|Tuberous sclerosis 1 [RCV000364074] Chr9:132895830 [GRCh38]
Chr9:135771217 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1902T>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000396486]|Tuberous sclerosis 1 [RCV000335031] Chr9:132894333 [GRCh38]
Chr9:135769720 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2708G>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000314526]|Tuberous sclerosis 1 [RCV000366771] Chr9:132893527 [GRCh38]
Chr9:135768914 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1785A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000314925]|Tuberous sclerosis 1 [RCV000400966] Chr9:132894450 [GRCh38]
Chr9:135769837 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*2733A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000401184]|Tuberous sclerosis 1 [RCV000336437] Chr9:132893502 [GRCh38]
Chr9:135768889 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*295C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000337514]|Tuberous sclerosis 1 [RCV000387578]|not provided [RCV002263662] Chr9:132895940 [GRCh38]
Chr9:135771327 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*3330G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000356851]|Tuberous sclerosis syndrome [RCV000263372] Chr9:132892905 [GRCh38]
Chr9:135768292 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2638C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000279855]|Tuberous sclerosis 1 [RCV000352250]|not provided [RCV003430959] Chr9:132893597 [GRCh38]
Chr9:135768984 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*1934A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000280006]|Tuberous sclerosis 1 [RCV000377558] Chr9:132894301 [GRCh38]
Chr9:135769688 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*2446A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000387867]|Tuberous sclerosis 1 [RCV000296544] Chr9:132893789 [GRCh38]
Chr9:135769176 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*1050T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000331997]|Tuberous sclerosis 1 [RCV000296702] Chr9:132895185 [GRCh38]
Chr9:135770572 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*1372T>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000359363]|Tuberous sclerosis 1 [RCV000264627] Chr9:132894863 [GRCh38]
Chr9:135770250 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*2558A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000265114]|Tuberous sclerosis 1 [RCV000357599] Chr9:132893677 [GRCh38]
Chr9:135769064 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*3997G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000339187]|Tuberous sclerosis 1 [RCV000395563] Chr9:132892238 [GRCh38]
Chr9:135767625 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*3538A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000399081]|Tuberous sclerosis 1 [RCV000363451] Chr9:132892697 [GRCh38]
Chr9:135768084 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*3448C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000265540]|Tuberous sclerosis 1 [RCV000320705] Chr9:132892787 [GRCh38]
Chr9:135768174 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*295C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000372466]|Tuberous sclerosis 1 [RCV000282497]|not provided [RCV003430960] Chr9:132895940 [GRCh38]
Chr9:135771327 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*3988G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000299365]|Tuberous sclerosis 1 [RCV000336407]|not provided [RCV003221959] Chr9:132892247 [GRCh38]
Chr9:135767634 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*1861G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000349998]|Tuberous sclerosis 1 [RCV000299912] Chr9:132894374 [GRCh38]
Chr9:135769761 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*2228G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000397315]|Tuberous sclerosis syndrome [RCV000341894] Chr9:132894007 [GRCh38]
Chr9:135769394 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.*2647C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000377602]|Tuberous sclerosis 1 [RCV000281087] Chr9:132893588 [GRCh38]
Chr9:135768975 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs) indel not provided [RCV000267199] Chr9:132912314..132912345 [GRCh38]
Chr9:135787701..135787732 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.74dup (p.Thr26fs) duplication Tuberous sclerosis 1 [RCV003614036]|not provided [RCV000275980] Chr9:132928798..132928799 [GRCh38]
Chr9:135804185..135804186 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*2949A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000259418]|Tuberous sclerosis syndrome [RCV000314160] Chr9:132893286 [GRCh38]
Chr9:135768673 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*817G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000370904]|Tuberous sclerosis syndrome [RCV000270273] Chr9:132895418 [GRCh38]
Chr9:135770805 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-3del deletion Isolated focal cortical dysplasia type II [RCV000402700]|Tuberous sclerosis syndrome [RCV000281369] Chr9:132897613 [GRCh38]
Chr9:135773000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1541dup duplication Isolated focal cortical dysplasia type II [RCV000271511]|Tuberous sclerosis syndrome [RCV000321898] Chr9:132894693..132894694 [GRCh38]
Chr9:135770080..135770081 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-3_2626-2insTA insertion Isolated focal cortical dysplasia type II [RCV000286905]|Tuberous sclerosis syndrome [RCV000334934] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4233G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000356926]|Tuberous sclerosis syndrome [RCV000260922] Chr9:132892002 [GRCh38]
Chr9:135767389 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1038T>C (p.Leu346=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017108]|Tuberous sclerosis 1 [RCV001084078]|not provided [RCV000309673] Chr9:132911105 [GRCh38]
Chr9:135786492 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.*4159G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000272588]|Tuberous sclerosis syndrome [RCV000385676] Chr9:132892076 [GRCh38]
Chr9:135767463 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2893dup duplication Isolated focal cortical dysplasia type II [RCV000325531]|Tuberous sclerosis syndrome [RCV000272832] Chr9:132893341..132893342 [GRCh38]
Chr9:135768728..135768729 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.914-2A>G single nucleotide variant not provided [RCV000317899] Chr9:132911570 [GRCh38]
Chr9:135786957 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*4631dup duplication Isolated focal cortical dysplasia type II [RCV000393709]|Tuberous sclerosis syndrome [RCV000307312] Chr9:132891603..132891604 [GRCh38]
Chr9:135766990..135766991 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-4_2626-3dup duplication Isolated focal cortical dysplasia type II [RCV000322211]|Tuberous sclerosis syndrome [RCV000378976] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1089G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000262717]|Tuberous sclerosis 1 [RCV000376001] Chr9:132895146 [GRCh38]
Chr9:135770533 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-21_2626-19dup duplication Hereditary cancer-predisposing syndrome [RCV002257661]|Isolated focal cortical dysplasia type II [RCV000338735]|Tuberous sclerosis 1 [RCV000549565]|Tuberous sclerosis syndrome [RCV000394927]|not provided [RCV000588188]|not specified [RCV001579345] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.*4515G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000318120]|Tuberous sclerosis 1 [RCV000263689] Chr9:132891720 [GRCh38]
Chr9:135767107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2691A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000308796]|Tuberous sclerosis syndrome [RCV000274547] Chr9:132893544 [GRCh38]
Chr9:135768931 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer) duplication not provided [RCV000342164] Chr9:132903738..132903739 [GRCh38]
Chr9:135779125..135779126 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*824C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000275093]|Tuberous sclerosis 1 [RCV000330294] Chr9:132895411 [GRCh38]
Chr9:135770798 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022166]|Tuberous sclerosis 1 [RCV001797702]|not provided [RCV000354508] Chr9:132923431 [GRCh38]
Chr9:135798818 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1727del (p.Leu576fs) deletion not provided [RCV000367211] Chr9:132905851 [GRCh38]
Chr9:135781238 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*4167C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000331141]|Tuberous sclerosis syndrome [RCV000276156] Chr9:132892068 [GRCh38]
Chr9:135767455 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000557618]|not provided [RCV000379901] Chr9:132905591 [GRCh38]
Chr9:135780978 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1165G>T (p.Gly389Ter) single nucleotide variant not provided [RCV000382479] Chr9:132910669 [GRCh38]
Chr9:135786056 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*548C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000278060]|Tuberous sclerosis syndrome [RCV000337908] Chr9:132895687 [GRCh38]
Chr9:135771074 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*298A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000317806]|Tuberous sclerosis 1 [RCV000266992] Chr9:132895937 [GRCh38]
Chr9:135771324 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*106A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000267247]|Tuberous sclerosis 1 [RCV000305996] Chr9:132896129 [GRCh38]
Chr9:135771516 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1519del deletion Isolated focal cortical dysplasia type II [RCV000267553]|Tuberous sclerosis syndrome [RCV000376500] Chr9:132894716 [GRCh38]
Chr9:135770103 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446526]|Tuberous sclerosis 1 [RCV001085318]|not provided [RCV000366220] Chr9:132911535 [GRCh38]
Chr9:135786922 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402089]|Isolated focal cortical dysplasia type II [RCV000267953]|Tuberous sclerosis 1 [RCV000546659]|Tuberous sclerosis syndrome [RCV000360120]|not provided [RCV001810867] Chr9:132905833 [GRCh38]
Chr9:135781220 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.*2679T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000365838]|Tuberous sclerosis syndrome [RCV000268902] Chr9:132893556 [GRCh38]
Chr9:135768943 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2156del (p.Leu719fs) deletion not provided [RCV000261838] Chr9:132903703 [GRCh38]
Chr9:135779090 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566027]|Isolated focal cortical dysplasia type II [RCV003476286]|Tuberous sclerosis 1 [RCV000558926] Chr9:132921926 [GRCh38]
Chr9:135797313 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567801]|Tuberous sclerosis 1 [RCV002526920] Chr9:132896681 [GRCh38]
Chr9:135772068 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569168]|Tuberous sclerosis 1 [RCV001490074] Chr9:132897569 [GRCh38]
Chr9:135772956 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2141T>A (p.Leu714His) single nucleotide variant Tuberous sclerosis 1 [RCV000554328] Chr9:132903718 [GRCh38]
Chr9:135779105 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.45C>T (p.Asp15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341336]|Lymphangiomyomatosis [RCV002497131]|Tuberous sclerosis 1 [RCV000532984]|not provided [RCV001712771] Chr9:132928828 [GRCh38]
Chr9:135804215 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431423]|Tuberous sclerosis 1 [RCV001089212]|not provided [RCV000488377] Chr9:132903697 [GRCh38]
Chr9:135779084 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1724del (p.Ser575fs) deletion Hereditary cancer-predisposing syndrome [RCV002404708]|Inborn genetic diseases [RCV000623541] Chr9:132905854 [GRCh38]
Chr9:135781241 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.-174A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000291514]|Tuberous sclerosis syndrome [RCV000346388] Chr9:132944573 [GRCh38]
Chr9:135819960 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413535]|Tuberous sclerosis 1 [RCV000549446] Chr9:132905699 [GRCh38]
Chr9:135781086 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV000303257]|Tuberous sclerosis 1 [RCV000397919] Chr9:132896478 [GRCh38]
Chr9:135771865 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3987A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000400544]|Tuberous sclerosis syndrome [RCV000315376] Chr9:132892248 [GRCh38]
Chr9:135767635 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2439C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000330519]|Tuberous sclerosis syndrome [RCV000387400] Chr9:132893796 [GRCh38]
Chr9:135769183 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2632A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000346416]|Tuberous sclerosis syndrome [RCV000398924] Chr9:132893603 [GRCh38]
Chr9:135768990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3240G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000346209]|Tuberous sclerosis syndrome [RCV000397318] Chr9:132892995 [GRCh38]
Chr9:135768382 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420441]|Tuberous sclerosis 1 [RCV000527544] Chr9:132904414 [GRCh38]
Chr9:135779801 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*3285G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000373147]|Tuberous sclerosis syndrome [RCV000316194] Chr9:132892950 [GRCh38]
Chr9:135768337 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2897A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000331771]|Tuberous sclerosis syndrome [RCV000384011] Chr9:132893338 [GRCh38]
Chr9:135768725 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.840A>G (p.Gln280=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017714]|Tuberous sclerosis 1 [RCV000550106]|not provided [RCV001731764] Chr9:132912355 [GRCh38]
Chr9:135787742 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384148]|Tuberous sclerosis 1 [RCV000550137] Chr9:132927281 [GRCh38]
Chr9:135802668 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.*3248_*3250del deletion Isolated focal cortical dysplasia type II [RCV000293677]|Tuberous sclerosis syndrome [RCV000385774] Chr9:132892985..132892987 [GRCh38]
Chr9:135768372..135768374 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3238T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000401404]|Tuberous sclerosis 1 [RCV000305092] Chr9:132892997 [GRCh38]
Chr9:135768384 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2576T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000400247]|Tuberous sclerosis 1 [RCV000305173] Chr9:132893659 [GRCh38]
Chr9:135769046 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3531G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000305395]|Tuberous sclerosis syndrome [RCV000360219] Chr9:132892704 [GRCh38]
Chr9:135768091 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4248C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000341741]|Tuberous sclerosis syndrome [RCV000305447] Chr9:132891987 [GRCh38]
Chr9:135767374 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2475C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000356604]|Tuberous sclerosis syndrome [RCV000317980] Chr9:132893760 [GRCh38]
Chr9:135769147 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.4(TSC1):c.-242G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000398552]|Tuberous sclerosis syndrome [RCV000341032] Chr9:132944641 [GRCh38]
Chr9:135820028 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.*920C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000284112]|Tuberous sclerosis syndrome [RCV000339190] Chr9:132895315 [GRCh38]
Chr9:135770702 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3284C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000295042]|Tuberous sclerosis syndrome [RCV000333543] Chr9:132892951 [GRCh38]
Chr9:135768338 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2615C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000363609]|Tuberous sclerosis syndrome [RCV000306561] Chr9:132893620 [GRCh38]
Chr9:135769007 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-80-10T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257662]|Isolated focal cortical dysplasia type II [RCV000355602]|Tuberous sclerosis syndrome [RCV000319431]|not specified [RCV001002394] Chr9:132928962 [GRCh38]
Chr9:135804349 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*448G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000402165]|Tuberous sclerosis 1 [RCV000366959] Chr9:132895787 [GRCh38]
Chr9:135771174 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4845G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000397574]|Tuberous sclerosis syndrome [RCV000295586] Chr9:132891390 [GRCh38]
Chr9:135766777 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1612C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000306813]|Tuberous sclerosis syndrome [RCV000365878] Chr9:132894623 [GRCh38]
Chr9:135770010 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*333C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000380215]|Tuberous sclerosis syndrome [RCV000320853] Chr9:132895902 [GRCh38]
Chr9:135771289 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4826A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000402171]|Tuberous sclerosis 1 [RCV000350451] Chr9:132891409 [GRCh38]
Chr9:135766796 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566852]|Tuberous sclerosis 1 [RCV000808127]|not provided [RCV001770526] Chr9:132905651 [GRCh38]
Chr9:135781038 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.108C>T (p.Asp36=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV000308243]|Tuberous sclerosis syndrome [RCV000397225] Chr9:132927303 [GRCh38]
Chr9:135802690 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3658G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000398060]|Tuberous sclerosis syndrome [RCV000351919] Chr9:132892577 [GRCh38]
Chr9:135767964 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.4(TSC1):c.-227G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000402771]|Tuberous sclerosis syndrome [RCV000352100] Chr9:132944626 [GRCh38]
Chr9:135820013 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000529274] Chr9:132897292 [GRCh38]
Chr9:135772679 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4193A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000297370]|Tuberous sclerosis syndrome [RCV000370714] Chr9:132892042 [GRCh38]
Chr9:135767429 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3543C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000308713]|Tuberous sclerosis syndrome [RCV000398714] Chr9:132892692 [GRCh38]
Chr9:135768079 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-166A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000321943]|Tuberous sclerosis 1 [RCV000376594] Chr9:132944565 [GRCh38]
Chr9:135819952 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4622G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000322401]|Tuberous sclerosis syndrome [RCV000358391] Chr9:132891613 [GRCh38]
Chr9:135767000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1519C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000372572]|Tuberous sclerosis syndrome [RCV000322680] Chr9:132894716 [GRCh38]
Chr9:135770103 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1969T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV000339234]|Tuberous sclerosis syndrome [RCV000286520] Chr9:132894266 [GRCh38]
Chr9:135769653 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2829A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000297823]|Tuberous sclerosis 1 [RCV000395509] Chr9:132893406 [GRCh38]
Chr9:135768793 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3737C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000378171]|Tuberous sclerosis syndrome [RCV000323610] Chr9:132892498 [GRCh38]
Chr9:135767885 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2644G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000338416]|Tuberous sclerosis syndrome [RCV000372060] Chr9:132893591 [GRCh38]
Chr9:135768978 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.960A>G (p.Leu320=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384149]|Tuberous sclerosis 1 [RCV001408154] Chr9:132911522 [GRCh38]
Chr9:135786909 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.*1000A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV000287553]|Tuberous sclerosis 1 [RCV000381979] Chr9:132895235 [GRCh38]
Chr9:135770622 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4072G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000287635]|Tuberous sclerosis syndrome [RCV000342650] Chr9:132892163 [GRCh38]
Chr9:135767550 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3063A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000390223]|Tuberous sclerosis 1 [RCV000338959] Chr9:132893172 [GRCh38]
Chr9:135768559 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*859G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000354850]|Tuberous sclerosis syndrome [RCV000399821] Chr9:132895376 [GRCh38]
Chr9:135770763 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020060]|Tuberous sclerosis 1 [RCV000530823] Chr9:132896380 [GRCh38]
Chr9:135771767 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.*3239G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000287857]|Tuberous sclerosis syndrome [RCV000344930] Chr9:132892996 [GRCh38]
Chr9:135768383 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-214C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000403265]|Tuberous sclerosis 1 [RCV000287916] Chr9:132944613 [GRCh38]
Chr9:135820000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3047C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000299441]|Tuberous sclerosis syndrome [RCV000356534] Chr9:132893188 [GRCh38]
Chr9:135768575 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3924G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000366720]|Tuberous sclerosis syndrome [RCV000311969] Chr9:132892311 [GRCh38]
Chr9:135767698 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1970G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000326203]|Tuberous sclerosis 1 [RCV000378606] Chr9:132894265 [GRCh38]
Chr9:135769652 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2658G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000326282]|Tuberous sclerosis syndrome [RCV000378683] Chr9:132893577 [GRCh38]
Chr9:135768964 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*583C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000341723]|Tuberous sclerosis syndrome [RCV000390656] Chr9:132895652 [GRCh38]
Chr9:135771039 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.4(TSC1):c.*4898G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000281318]|Tuberous sclerosis syndrome [RCV000375791] Chr9:132891337 [GRCh38]
Chr9:135766724 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000554535] Chr9:132896696 [GRCh38]
Chr9:135772083 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2364T>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000289212]|Tuberous sclerosis syndrome [RCV000397317] Chr9:132893871 [GRCh38]
Chr9:135769258 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4356C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV000290166]|Tuberous sclerosis 1 [RCV000384313] Chr9:132891879 [GRCh38]
Chr9:135767266 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4128G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000382020]|Tuberous sclerosis 1 [RCV000327628] Chr9:132892107 [GRCh38]
Chr9:135767494 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4248C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV000302039]|Tuberous sclerosis syndrome [RCV000390304] Chr9:132891987 [GRCh38]
Chr9:135767374 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-7C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258954]|Tuberous sclerosis 1 [RCV000526516] Chr9:132923499 [GRCh38]
Chr9:135798886 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438384]|Tuberous sclerosis 1 [RCV000548959] Chr9:132896722 [GRCh38]
Chr9:135772109 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+3_363+18del deletion Lymphangiomyomatosis [RCV002481723]|Tuberous sclerosis 1 [RCV001037319]|not provided [RCV000520053] Chr9:132925569..132925584 [GRCh38]
Chr9:135800956..135800971 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.774G>A (p.Glu258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258955]|Tuberous sclerosis 1 [RCV000549306] Chr9:132912421 [GRCh38]
Chr9:135787808 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013234]|Tuberous sclerosis 1 [RCV000641985]|not specified [RCV000606429] Chr9:132905776 [GRCh38]
Chr9:135781163 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1289_1290insGCGCGGACC (p.Pro430_Cys431insArgGlyPro) insertion Tuberous sclerosis 1 [RCV000642016] Chr9:132907344..132907345 [GRCh38]
Chr9:135782731..135782732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000641982] Chr9:132901653 [GRCh38]
Chr9:135777040 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000641983] Chr9:132901600 [GRCh38]
Chr9:135776987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424443]|Tuberous sclerosis 1 [RCV000641988] Chr9:132897610 [GRCh38]
Chr9:135772997 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020300]|Tuberous sclerosis 1 [RCV000642019] Chr9:132896296 [GRCh38]
Chr9:135771683 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000641996] Chr9:132896288 [GRCh38]
Chr9:135771675 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1672C>T (p.Pro558Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000642022] Chr9:132905906 [GRCh38]
Chr9:135781293 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1758del (p.Pro585_Cys586insTer) deletion Tuberous sclerosis 1 [RCV000642025] Chr9:132905820 [GRCh38]
Chr9:135781207 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023078]|Tuberous sclerosis 1 [RCV000642044] Chr9:132928826 [GRCh38]
Chr9:135804213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001853844]|not provided [RCV000579359] Chr9:132902616 [GRCh38]
Chr9:135778003 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332210]|Tuberous sclerosis 1 [RCV001387999]|not provided [RCV000592666] Chr9:132902781 [GRCh38]
Chr9:135778168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1030-14T>A single nucleotide variant Tuberous sclerosis 1 [RCV002062114]|not provided [RCV000598740] Chr9:132911127 [GRCh38]
Chr9:135786514 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1388dup (p.Leu463fs) duplication Tuberous sclerosis 1 [RCV000527637] Chr9:132906780..132906781 [GRCh38]
Chr9:135782167..135782168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019746]|Tuberous sclerosis 1 [RCV000553886]|not provided [RCV001755840] Chr9:132896437 [GRCh38]
Chr9:135771824 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1533dup (p.Leu512fs) duplication not provided [RCV000598967] Chr9:132906044..132906045 [GRCh38]
Chr9:135781431..135781432 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs) microsatellite Tuberous sclerosis 1 [RCV003505125]|not provided [RCV000598822] Chr9:132910633..132910634 [GRCh38]
Chr9:135786020..135786021 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3381G>A (p.Val1127=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456133]|Tuberous sclerosis 1 [RCV000531702]|not specified [RCV000615422] Chr9:132896349 [GRCh38]
Chr9:135771736 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019317]|Tuberous sclerosis 1 [RCV000528165] Chr9:132896502 [GRCh38]
Chr9:135771889 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1687G>C (p.Asp563His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566405] Chr9:132905891 [GRCh38]
Chr9:135781278 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1446_1447del (p.Ile482_Ser483insTer) microsatellite Tuberous sclerosis 1 [RCV000641960] Chr9:132906131..132906132 [GRCh38]
Chr9:135781518..135781519 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) single nucleotide variant Tuberous sclerosis 1 [RCV000641981]|not provided [RCV001771874] Chr9:132897268 [GRCh38]
Chr9:135772655 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000641993] Chr9:132896255 [GRCh38]
Chr9:135771642 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372784]|Tuberous sclerosis 1 [RCV000642003] Chr9:132896398 [GRCh38]
Chr9:135771785 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422309]|Tuberous sclerosis 1 [RCV000642012]|not provided [RCV001538503] Chr9:132911065 [GRCh38]
Chr9:135786452 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256369]|Tuberous sclerosis 1 [RCV000551227]|not provided [RCV001578209] Chr9:132896558 [GRCh38]
Chr9:135771945 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343282]|Tuberous sclerosis 1 [RCV000642038]|not provided [RCV001584479] Chr9:132923486 [GRCh38]
Chr9:135798873 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424445]|Tuberous sclerosis 1 [RCV000642018] Chr9:132897513 [GRCh38]
Chr9:135772900 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013563]|Tuberous sclerosis 1 [RCV000642048] Chr9:132905690 [GRCh38]
Chr9:135781077 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1443A>G (p.Ala481=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162896]|Tuberous sclerosis 1 [RCV000642059] Chr9:132906135 [GRCh38]
Chr9:135781522 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302835]|Tuberous sclerosis 1 [RCV000554858] Chr9:132905683 [GRCh38]
Chr9:135781070 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002316553]|Ovarian cancer [RCV003153710]|Tuberous sclerosis 1 [RCV001083325]|not provided [RCV000840913]|not specified [RCV001821551] Chr9:132910615 [GRCh38]
Chr9:135786002 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000532752] Chr9:132905618 [GRCh38]
Chr9:135781005 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457952]|Tuberous sclerosis 1 [RCV001416122]|not provided [RCV001719063] Chr9:132896333 [GRCh38]
Chr9:135771720 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1997+5G>C single nucleotide variant not provided [RCV000599454] Chr9:132905576 [GRCh38]
Chr9:135780963 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.852C>T (p.Arg284=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448704]|Tuberous sclerosis 1 [RCV000555411] Chr9:132912343 [GRCh38]
Chr9:135787730 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3129_3130dup (p.Glu1044fs) duplication not provided [RCV000593617] Chr9:132896599..132896600 [GRCh38]
Chr9:135771986..135771987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1152A>G (p.Lys384=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372766]|not specified [RCV000604642] Chr9:132910682 [GRCh38]
Chr9:135786069 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-144+9G>C single nucleotide variant not specified [RCV000599753] Chr9:132944534 [GRCh38]
Chr9:135819921 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1157del (p.Thr386fs) deletion not provided [RCV000523562] Chr9:132910677 [GRCh38]
Chr9:135786064 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1264-9T>C single nucleotide variant Tuberous sclerosis 1 [RCV000532529]|not provided [RCV001707729] Chr9:132907379 [GRCh38]
Chr9:135782766 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1029+8G>A single nucleotide variant Tuberous sclerosis 1 [RCV000642100] Chr9:132911445 [GRCh38]
Chr9:135786832 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448703]|Tuberous sclerosis 1 [RCV000555330]|not provided [RCV001683566] Chr9:132896670 [GRCh38]
Chr9:135772057 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573730]|Tuberous sclerosis 1 [RCV001344231] Chr9:132921967 [GRCh38]
Chr9:135797354 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1033del (p.Thr345fs) deletion Lymphangiomyomatosis [RCV000768346] Chr9:132911110 [GRCh38]
Chr9:135786497 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.658del (p.Val220fs) deletion Cortical tubers [RCV000415178] Chr9:132921824 [GRCh38]
Chr9:135797211 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438382]|Tuberous sclerosis 1 [RCV000534632]|not provided [RCV003329299] Chr9:132897229 [GRCh38]
Chr9:135772616 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330886]|Tuberous sclerosis 1 [RCV000539889]|not provided [RCV002461304] Chr9:132923438 [GRCh38]
Chr9:135798825 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256365]|Tuberous sclerosis 1 [RCV000559831]|not provided [RCV001584281] Chr9:132911093 [GRCh38]
Chr9:135786480 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000416374] Chr9:132902727 [GRCh38]
Chr9:135778114 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1781del (p.Val594fs) deletion Tuberous sclerosis 1 [RCV000559976] Chr9:132905797 [GRCh38]
Chr9:135781184 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2626-3_2626-2insTT insertion Tuberous sclerosis 1 [RCV002060326] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.375C>T (p.Asp125=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367855]|Tuberous sclerosis 1 [RCV000539101]|not provided [RCV000832612] Chr9:132923481 [GRCh38]
Chr9:135798868 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1305A>G (p.Gln435=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384147]|Tuberous sclerosis 1 [RCV000535235] Chr9:132907329 [GRCh38]
Chr9:135782716 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569391]|Tuberous sclerosis 1 [RCV000642000]|not provided [RCV001570618] Chr9:132923389 [GRCh38]
Chr9:135798776 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs) indel not provided [RCV000412759] Chr9:132903750..132903753 [GRCh38]
Chr9:135779137..135779140 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) indel Hereditary cancer-predisposing syndrome [RCV002404455]|Tuberous sclerosis 1 [RCV000533275] Chr9:132905975..132905976 [GRCh38]
Chr9:135781362..135781363 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258953]|Tuberous sclerosis 1 [RCV000558171] Chr9:132896566 [GRCh38]
Chr9:135771953 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val) single nucleotide variant Tuberous sclerosis 1 [RCV000560644] Chr9:132902720 [GRCh38]
Chr9:135778107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-2_740del deletion Tuberous sclerosis 1 [RCV000560734] Chr9:132912455..132912459 [GRCh38]
Chr9:135787842..135787846 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413534]|Isolated focal cortical dysplasia type II [RCV003476283]|Tuberous sclerosis 1 [RCV000536003]|not provided [RCV001561371] Chr9:132905778 [GRCh38]
Chr9:135781165 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016839]|Tuberous sclerosis 1 [RCV000558701]|not specified [RCV000608003] Chr9:132897263 [GRCh38]
Chr9:135772650 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018361]|Tuberous sclerosis 1 [RCV000538445] Chr9:132925645 [GRCh38]
Chr9:135801032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3184C>A (p.Arg1062=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572920] Chr9:132896546 [GRCh38]
Chr9:135771933 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574390]|Tuberous sclerosis 1 [RCV000692073]|not provided [RCV000762584] Chr9:132921408 [GRCh38]
Chr9:135796795 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs) duplication Tuberous sclerosis 1 [RCV000540931] Chr9:132903678..132903679 [GRCh38]
Chr9:135779065..135779066 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1998-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV003505107]|Tuberous sclerosis syndrome [RCV003323527]|not provided [RCV000413689] Chr9:132904456 [GRCh38]
Chr9:135779843 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010260]|Tuberous sclerosis 1 [RCV000541058]|not specified [RCV000604045] Chr9:132910643 [GRCh38]
Chr9:135786030 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2643A>T (p.Lys881Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571575] Chr9:132897593 [GRCh38]
Chr9:135772980 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404458]|Tuberous sclerosis 1 [RCV000559070]|not provided [RCV002298658] Chr9:132905825 [GRCh38]
Chr9:135781212 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.749T>C (p.Leu250Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000536669] Chr9:132912446 [GRCh38]
Chr9:135787833 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431622]|Tuberous sclerosis 1 [RCV000531236]|not provided [RCV001696992] Chr9:132902761 [GRCh38]
Chr9:135778148 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del deletion Tuberous sclerosis 1 [RCV000449591] Chr9:132878172..132897610 [GRCh38]
Chr9:135753559..135772997 [GRCh37]
Chr9:9q34.13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 copy number gain See cases [RCV000447436] Chr9:135797171..136245956 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
NM_000368.5(TSC1):c.-80-5C>T single nucleotide variant not provided [RCV001698223] Chr9:132928957 [GRCh38]
Chr9:135804344 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000576108]|Lymphangiomyomatosis [RCV002481304]|Tuberous sclerosis 1 [RCV001079535]|not provided [RCV000465751] Chr9:132910656 [GRCh38]
Chr9:135786043 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2975+4G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436286]|Tuberous sclerosis 1 [RCV001231820]|not specified [RCV000441290] Chr9:132897180 [GRCh38]
Chr9:135772567 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn) indel Tuberous sclerosis 1 [RCV000697846] Chr9:132897297..132897298 [GRCh38]
Chr9:135772684..135772685 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.42G>A (p.Leu14=) single nucleotide variant Tuberous sclerosis 1 [RCV001425227]|not specified [RCV000437843] Chr9:132928831 [GRCh38]
Chr9:135804218 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568131]|Tuberous sclerosis 1 [RCV000557099]|not specified [RCV000445142] Chr9:132902674 [GRCh38]
Chr9:135778061 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561112]|TSC1-related condition [RCV003970126]|Tuberous sclerosis 1 [RCV000458428]|not provided [RCV001703508]|not specified [RCV000445291] Chr9:132896685 [GRCh38]
Chr9:135772072 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.-11C>T single nucleotide variant not specified [RCV000424228] Chr9:132928883 [GRCh38]
Chr9:135804270 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+18T>C single nucleotide variant Tuberous sclerosis 1 [RCV002059720]|not specified [RCV000438256] Chr9:132923330 [GRCh38]
Chr9:135798717 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-14G>A single nucleotide variant Tuberous sclerosis 1 [RCV002063651]|not specified [RCV000441731] Chr9:132901713 [GRCh38]
Chr9:135777100 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-44G>A single nucleotide variant not specified [RCV000441840] Chr9:132928916 [GRCh38]
Chr9:135804303 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018495]|Tuberous sclerosis 1 [RCV000556341]|not specified [RCV000424313] Chr9:132896654 [GRCh38]
Chr9:135772041 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024073]|Tuberous sclerosis 1 [RCV001047121]|not provided [RCV000427937] Chr9:132921941 [GRCh38]
Chr9:135797328 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013121]|TSC1-related condition [RCV003922804]|Tuberous sclerosis 1 [RCV001085834]|not provided [RCV000438344] Chr9:132905783 [GRCh38]
Chr9:135781170 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=) single nucleotide variant Tuberous sclerosis 1 [RCV001499344]|not specified [RCV000418314] Chr9:132897261 [GRCh38]
Chr9:135772648 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2311A>G (p.Met771Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256231]|Tuberous sclerosis 1 [RCV001861557]|not specified [RCV000424798] Chr9:132902685 [GRCh38]
Chr9:135778072 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2625+15G>A single nucleotide variant Tuberous sclerosis 1 [RCV002062677]|not specified [RCV000418796] Chr9:132900700 [GRCh38]
Chr9:135776087 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001851042]|not specified [RCV000428530] Chr9:132897214 [GRCh38]
Chr9:135772601 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451002]|Tuberous sclerosis 1 [RCV000549642]|not provided [RCV001697803] Chr9:132896310 [GRCh38]
Chr9:135771697 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2034C>T (p.His678=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418327]|Tuberous sclerosis 1 [RCV000551598]|not specified [RCV000425311] Chr9:132904418 [GRCh38]
Chr9:135779805 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.21C>G (p.Val7=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571148]|Tuberous sclerosis 1 [RCV000467525]|not specified [RCV000435711] Chr9:132928852 [GRCh38]
Chr9:135804239 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.181C>T (p.Leu61=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411340]|TSC1-related condition [RCV003897886]|Tuberous sclerosis 1 [RCV000642069]|not specified [RCV000419367] Chr9:132927230 [GRCh38]
Chr9:135802617 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.249C>T (p.Ala83=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568358]|TSC1-related condition [RCV003959940]|Tuberous sclerosis 1 [RCV000642082]|not provided [RCV001704308] Chr9:132925701 [GRCh38]
Chr9:135801088 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.*14A>T single nucleotide variant not specified [RCV000425413] Chr9:132896221 [GRCh38]
Chr9:135771608 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+13G>A single nucleotide variant Tuberous sclerosis 1 [RCV002059731]|not specified [RCV000425469] Chr9:132921350 [GRCh38]
Chr9:135796737 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505110]|not provided [RCV000425755] Chr9:132897595 [GRCh38]
Chr9:135772982 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002318411]|Tuberous sclerosis 1 [RCV001064247]|not specified [RCV000419436] Chr9:132911485 [GRCh38]
Chr9:135786872 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.738-10C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257668]|Isolated focal cortical dysplasia type II [RCV001169729]|Tuberous sclerosis 1 [RCV000473132]|not provided [RCV001703507] Chr9:132912467 [GRCh38]
Chr9:135787854 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257671]|Lymphangiomyomatosis [RCV002502494]|Tuberous sclerosis 1 [RCV000472788]|not provided [RCV001712208] Chr9:132896601 [GRCh38]
Chr9:135771988 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.47C>G (p.Ser16Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000553355] Chr9:132928826 [GRCh38]
Chr9:135804213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256238]|Tuberous sclerosis 1 [RCV000468037]|not specified [RCV000419788] Chr9:132897536 [GRCh38]
Chr9:135772923 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2391+17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002062705]|not specified [RCV000429462] Chr9:132902588 [GRCh38]
Chr9:135777975 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-144+7A>T single nucleotide variant not specified [RCV000432923] Chr9:132944536 [GRCh38]
Chr9:135819923 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.72C>T (p.Asp24=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026243]|Tuberous sclerosis 1 [RCV000548216]|not provided [RCV001704373] Chr9:132928801 [GRCh38]
Chr9:135804188 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411368]|Lymphangiomyomatosis [RCV002481320]|Tuberous sclerosis 1 [RCV000548490]|not provided [RCV000436287] Chr9:132905767 [GRCh38]
Chr9:135781154 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429424]|Tuberous sclerosis 1 [RCV001394460]|not specified [RCV000443612] Chr9:132903710 [GRCh38]
Chr9:135779097 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2208+17G>A single nucleotide variant Tuberous sclerosis 1 [RCV002063519]|not specified [RCV000443621] Chr9:132903634 [GRCh38]
Chr9:135779021 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+16T>G single nucleotide variant Tuberous sclerosis 1 [RCV002521813]|not specified [RCV000422869] Chr9:132927185 [GRCh38]
Chr9:135802572 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+13A>G single nucleotide variant Tuberous sclerosis 1 [RCV002059964]|not specified [RCV000426417] Chr9:132927188 [GRCh38]
Chr9:135802575 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+9T>A single nucleotide variant Tuberous sclerosis 1 [RCV001441333]|not specified [RCV000429932] Chr9:132907292 [GRCh38]
Chr9:135782679 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020220]|Tuberous sclerosis 1 [RCV000467888]|not specified [RCV000433443] Chr9:132896325 [GRCh38]
Chr9:135771712 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1263+15G>A single nucleotide variant Tuberous sclerosis 1 [RCV002062429]|not specified [RCV000440410] Chr9:132910556 [GRCh38]
Chr9:135785943 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564089]|Tuberous sclerosis 1 [RCV001088285]|not provided [RCV000444035] Chr9:132927244 [GRCh38]
Chr9:135802631 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.110G>A (p.Arg37His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491924]|TSC1-related condition [RCV003942369]|Tuberous sclerosis 1 [RCV000468501]|not provided [RCV001703752] Chr9:132927301 [GRCh38]
Chr9:135802688 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565665]|Isolated focal cortical dysplasia type II [RCV001167779]|Malignant tumor of breast [RCV001269495]|TSC1-related condition [RCV003950339]|Tuberous sclerosis 1 [RCV001085125]|not provided [RCV000437432]|not specified [RCV000606212] Chr9:132905989 [GRCh38]
Chr9:135781376 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1113C>T (p.His371=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491936]|Tuberous sclerosis 1 [RCV000457209]|not specified [RCV000420172] Chr9:132911030 [GRCh38]
Chr9:135786417 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323606]|Tuberous sclerosis 1 [RCV001488497]|not specified [RCV000430383] Chr9:132896394 [GRCh38]
Chr9:135771781 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-159G>A single nucleotide variant not specified [RCV000444579] Chr9:132944558 [GRCh38]
Chr9:135819945 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567359]|TSC1-related condition [RCV003902488]|Tuberous sclerosis 1 [RCV001083120]|not provided [RCV000734481] Chr9:132910671 [GRCh38]
Chr9:135786058 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257670]|Tuberous sclerosis 1 [RCV000559518]|not provided [RCV001703540] Chr9:132897195 [GRCh38]
Chr9:135772582 [GRCh37]
Chr9:9q34.13		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411507]|Tuberous sclerosis 1 [RCV000458959] Chr9:132905806 [GRCh38]
Chr9:135781193 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020237]|Lymphangiomyomatosis [RCV002496839]|Tuberous sclerosis 1 [RCV000458977] Chr9:132896316 [GRCh38]
Chr9:135771703 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.943T>A (p.Ser315Thr) single nucleotide variant Tuberous sclerosis 1 [RCV000459038] Chr9:132911539 [GRCh38]
Chr9:135786926 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168847]|Tuberous sclerosis 1 [RCV000470360]|not provided [RCV002307508] Chr9:132896521 [GRCh38]
Chr9:135771908 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013134]|Lymphangiomyomatosis [RCV002489077]|Tuberous sclerosis 1 [RCV000474044] Chr9:132905797 [GRCh38]
Chr9:135781184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571184]|Tuberous sclerosis 1 [RCV001089381]|not provided [RCV000756827] Chr9:132928819 [GRCh38]
Chr9:135804206 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1326_1327del (p.Gly443fs) microsatellite Tuberous sclerosis 1 [RCV001865459]|not provided [RCV000480763] Chr9:132907307..132907308 [GRCh38]
Chr9:135782694..135782695 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.989_990insTT (p.Leu330_Ser331insTer) insertion not provided [RCV000481025] Chr9:132911492..132911493 [GRCh38]
Chr9:135786879..135786880 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571403]|Lymphangiomyomatosis [RCV002496841]|TSC1-related condition [RCV003899992]|Tuberous sclerosis 1 [RCV001082512]|not provided [RCV001696910] Chr9:132905604 [GRCh38]
Chr9:135780991 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429539]|Tuberous sclerosis 1 [RCV000459301] Chr9:132912365 [GRCh38]
Chr9:135787752 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1231C>T (p.Leu411Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000463047] Chr9:132910603 [GRCh38]
Chr9:135785990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1136C>T (p.Thr379Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000466821] Chr9:132911007 [GRCh38]
Chr9:135786394 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436452]|Tuberous sclerosis 1 [RCV000466864] Chr9:132897553 [GRCh38]
Chr9:135772940 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.531C>T (p.Leu177=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023918]|Tuberous sclerosis 1 [RCV000470453] Chr9:132921951 [GRCh38]
Chr9:135797338 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561523]|Isolated focal cortical dysplasia type II [RCV003476097]|Tuberous sclerosis 1 [RCV000474131] Chr9:132912296 [GRCh38]
Chr9:135787683 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020266]|Tuberous sclerosis 1 [RCV000474187] Chr9:132896306 [GRCh38]
Chr9:135771693 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.362A>T (p.Lys121Met) single nucleotide variant Tuberous sclerosis 1 [RCV000474214] Chr9:132925588 [GRCh38]
Chr9:135800975 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.988C>A (p.Leu330Met) single nucleotide variant Tuberous sclerosis 1 [RCV000459425] Chr9:132911494 [GRCh38]
Chr9:135786881 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2472T>G (p.Thr824=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446909]|Tuberous sclerosis 1 [RCV000463172] Chr9:132901619 [GRCh38]
Chr9:135777006 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383826]|Tuberous sclerosis 1 [RCV000466977] Chr9:132911457 [GRCh38]
Chr9:135786844 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.389C>T (p.Thr130Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356698]|Tuberous sclerosis 1 [RCV000470585] Chr9:132923467 [GRCh38]
Chr9:135798854 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.210G>A (p.Lys70=) single nucleotide variant Tuberous sclerosis 1 [RCV000470610] Chr9:132927201 [GRCh38]
Chr9:135802588 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000470724] Chr9:132897323 [GRCh38]
Chr9:135772710 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575617]|Lymphangiomyomatosis [RCV000764812]|Tuberous sclerosis 1 [RCV000467121] Chr9:132902693 [GRCh38]
Chr9:135778080 [GRCh37]
Chr9:9q34.13		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1096C>G (p.Pro366Ala) single nucleotide variant Tuberous sclerosis 1 [RCV000467445] Chr9:132911047 [GRCh38]
Chr9:135786434 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436453]|Tuberous sclerosis 1 [RCV000467839]|not provided [RCV001577112] Chr9:132897316 [GRCh38]
Chr9:135772703 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1611C>T (p.His537=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012418]|TSC1-related condition [RCV003932763]|Tuberous sclerosis 1 [RCV001443026] Chr9:132905967 [GRCh38]
Chr9:135781354 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1253C>A (p.Pro418His) single nucleotide variant Tuberous sclerosis 1 [RCV000469111] Chr9:132910581 [GRCh38]
Chr9:135785968 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1670T>C (p.Leu557Pro) single nucleotide variant not provided [RCV000483843] Chr9:132905908 [GRCh38]
Chr9:135781295 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1589G>A (p.Ser530Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000456140] Chr9:132905989 [GRCh38]
Chr9:135781376 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011927]|Tuberous sclerosis 1 [RCV000459575] Chr9:132906075 [GRCh38]
Chr9:135781462 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.513C>T (p.His171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570302]|Tuberous sclerosis 1 [RCV000459658]|not provided [RCV001696858] Chr9:132921969 [GRCh38]
Chr9:135797356 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His) indel Tuberous sclerosis 1 [RCV000463553] Chr9:132902678..132902679 [GRCh38]
Chr9:135778065..135778066 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.69C>T (p.Asp23=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367614]|Tuberous sclerosis 1 [RCV000463562] Chr9:132928804 [GRCh38]
Chr9:135804191 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572644]|Tuberous sclerosis 1 [RCV000467181] Chr9:132896671 [GRCh38]
Chr9:135772058 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-10T>A single nucleotide variant Tuberous sclerosis 1 [RCV000467353] Chr9:132906149 [GRCh38]
Chr9:135781536 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.133T>C (p.Leu45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561020]|Tuberous sclerosis 1 [RCV000470866] Chr9:132927278 [GRCh38]
Chr9:135802665 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.514G>A (p.Val172Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571730]|Tuberous sclerosis 1 [RCV000474318]|not provided [RCV001548481] Chr9:132921968 [GRCh38]
Chr9:135797355 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer) indel not provided [RCV000482362] Chr9:132906133..132906135 [GRCh38]
Chr9:135781520..135781522 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001797732]|not provided [RCV000482412] Chr9:132927305 [GRCh38]
Chr9:135802692 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.448C>T (p.His150Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV000459825] Chr9:132923408 [GRCh38]
Chr9:135798795 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446832]|Tuberous sclerosis 1 [RCV000463706] Chr9:132902721 [GRCh38]
Chr9:135778108 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.114C>G (p.Gly38=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017480]|Tuberous sclerosis 1 [RCV000463810] Chr9:132927297 [GRCh38]
Chr9:135802684 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.484T>C (p.Ser162Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000474842] Chr9:132923372 [GRCh38]
Chr9:135798759 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323745]|Tuberous sclerosis 1 [RCV000474862] Chr9:132896411 [GRCh38]
Chr9:135771798 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1438+5T>C single nucleotide variant Tuberous sclerosis 1 [RCV000475039] Chr9:132906726 [GRCh38]
Chr9:135782113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.378C>T (p.Val126=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021141]|Tuberous sclerosis 1 [RCV001085200]|not provided [RCV000828727] Chr9:132923478 [GRCh38]
Chr9:135798865 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2292_2293insT (p.Gln765fs) insertion not provided [RCV000482635] Chr9:132902703..132902704 [GRCh38]
Chr9:135778090..135778091 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.572T>C (p.Leu191Pro) single nucleotide variant not provided [RCV000482696] Chr9:132921910 [GRCh38]
Chr9:135797297 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256269]|Tuberous sclerosis 1 [RCV000456545]|not provided [RCV001653832] Chr9:132905947 [GRCh38]
Chr9:135781334 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568606]|Isolated focal cortical dysplasia type II [RCV001167710]|Tuberous sclerosis 1 [RCV000456582]|not provided [RCV001538625] Chr9:132902673 [GRCh38]
Chr9:135778060 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.625A>G (p.Met209Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025051]|TSC1-related condition [RCV003942494]|Tuberous sclerosis 1 [RCV000460091]|not provided [RCV003477986] Chr9:132921857 [GRCh38]
Chr9:135797244 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2626-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429538]|TSC1-related condition [RCV003912811]|Tuberous sclerosis 1 [RCV000460170]|not provided [RCV001703175] Chr9:132897613 [GRCh38]
Chr9:135773000 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2975+6A>T single nucleotide variant Lymphangiomyomatosis [RCV002481464]|Tuberous sclerosis 1 [RCV000460184] Chr9:132897178 [GRCh38]
Chr9:135772565 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.978A>G (p.Leu326=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383901]|Tuberous sclerosis 1 [RCV001405444] Chr9:132911504 [GRCh38]
Chr9:135786891 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2391+1G>C single nucleotide variant Tuberous sclerosis 1 [RCV000463910] Chr9:132902604 [GRCh38]
Chr9:135777991 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016721]|Tuberous sclerosis 1 [RCV000467686] Chr9:132897329 [GRCh38]
Chr9:135772716 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168846]|Tuberous sclerosis 1 [RCV000471415] Chr9:132906050 [GRCh38]
Chr9:135781437 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258914]|Tuberous sclerosis 1 [RCV000471445]|not specified [RCV000612784] Chr9:132896430 [GRCh38]
Chr9:135771817 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573120]|Isolated focal cortical dysplasia type II [RCV000477710]|Tuberous sclerosis 1 [RCV000695216]|Tuberous sclerosis syndrome [RCV001526808]|not provided [RCV001721544] Chr9:132928809 [GRCh38]
Chr9:135804196 [GRCh37]
Chr9:9q34.13		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys) single nucleotide variant Isolated focal cortical dysplasia type II [RCV000477742]|Tuberous sclerosis 1 [RCV000694777] Chr9:132921872 [GRCh38]
Chr9:135797259 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.1518del (p.Tyr508fs) deletion Tuberous sclerosis 1 [RCV000456728] Chr9:132906060 [GRCh38]
Chr9:135781447 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1439-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570157]|TSC1-related condition [RCV003925385]|Tuberous sclerosis 1 [RCV000456731]|not provided [RCV001584191] Chr9:132906143 [GRCh38]
Chr9:135781530 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323743]|Tuberous sclerosis 1 [RCV000460336] Chr9:132896617 [GRCh38]
Chr9:135772004 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) deletion Tuberous sclerosis 1 [RCV000460358]|not provided [RCV003324752] Chr9:132897202..132897210 [GRCh38]
Chr9:135772589..135772597 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000464287] Chr9:132900755 [GRCh38]
Chr9:135776142 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.51C>G (p.Pro17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023708]|Tuberous sclerosis 1 [RCV000467965] Chr9:132928822 [GRCh38]
Chr9:135804209 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=) single nucleotide variant Lymphangiomyomatosis [RCV002506154]|Tuberous sclerosis 1 [RCV001409875] Chr9:132896367 [GRCh38]
Chr9:135771754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016836]|Tuberous sclerosis 1 [RCV000471719]|not provided [RCV002525597] Chr9:132897266 [GRCh38]
Chr9:135772653 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019417]|Tuberous sclerosis 1 [RCV000475425] Chr9:132896486 [GRCh38]
Chr9:135771873 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348332]|Isolated focal cortical dysplasia type II [RCV003476100]|Tuberous sclerosis 1 [RCV000475434]|not provided [RCV001764439] Chr9:132921955 [GRCh38]
Chr9:135797342 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016277]|Tuberous sclerosis 1 [RCV000475479]|not provided [RCV000829005] Chr9:132897564 [GRCh38]
Chr9:135772951 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018033]|Tuberous sclerosis 1 [RCV000475554]|not provided [RCV001591100]|not specified [RCV003155192] Chr9:132912338 [GRCh38]
Chr9:135787725 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2502+8_2502+10del microsatellite Tuberous sclerosis 1 [RCV000475608] Chr9:132901579..132901581 [GRCh38]
Chr9:135776966..135776968 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1702_1703del (p.Gly568fs) deletion not provided [RCV000483616] Chr9:132905875..132905876 [GRCh38]
Chr9:135781262..135781263 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs) microsatellite Tuberous sclerosis 1 [RCV002526541]|not provided [RCV000483920] Chr9:132910671..132910672 [GRCh38]
Chr9:135786058..135786059 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1333+6del deletion Tuberous sclerosis 1 [RCV000456824] Chr9:132907295 [GRCh38]
Chr9:135782682 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.771C>T (p.Ile257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402364]|Tuberous sclerosis 1 [RCV000460567] Chr9:132912424 [GRCh38]
Chr9:135787811 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.540C>T (p.Leu180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350039]|Tuberous sclerosis 1 [RCV000460724] Chr9:132921942 [GRCh38]
Chr9:135797329 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+6_1263+8dup duplication Lymphangiomyomatosis [RCV002489133]|Tuberous sclerosis 1 [RCV000464509]|not specified [RCV000604399] Chr9:132910562..132910563 [GRCh38]
Chr9:135785949..135785950 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356699]|Tuberous sclerosis 1 [RCV000464560]|not provided [RCV001764438] Chr9:132910617 [GRCh38]
Chr9:135786004 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567330]|Tuberous sclerosis 1 [RCV000468231]|not provided [RCV003139664] Chr9:132896711 [GRCh38]
Chr9:135772098 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000475792] Chr9:132900791 [GRCh38]
Chr9:135776178 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) microsatellite Hereditary cancer-predisposing syndrome [RCV001019502]|Seizure [RCV000781950]|Tuberous sclerosis 1 [RCV000461709]|not provided [RCV001696878] Chr9:132911523..132911525 [GRCh38]
Chr9:135786910..135786912 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446833]|Tuberous sclerosis 1 [RCV000457246] Chr9:132896663 [GRCh38]
Chr9:135772050 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020253]|TSC1-related condition [RCV003899930]|Tuberous sclerosis 1 [RCV000460787]|not provided [RCV001554985] Chr9:132896311 [GRCh38]
Chr9:135771698 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.850C>A (p.Arg284Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000472102] Chr9:132912345 [GRCh38]
Chr9:135787732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2813+5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436454]|Tuberous sclerosis 1 [RCV000472166] Chr9:132897418 [GRCh38]
Chr9:135772805 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012341]|Tuberous sclerosis 1 [RCV000475896]|not provided [RCV001770354] Chr9:132905984 [GRCh38]
Chr9:135781371 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017361]|TSC1-related condition [RCV003401488]|Tuberous sclerosis 1 [RCV000475917] Chr9:132911030 [GRCh38]
Chr9:135786417 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562014]|Tuberous sclerosis 1 [RCV000475936]|not provided [RCV001683506] Chr9:132910625 [GRCh38]
Chr9:135786012 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000475975] Chr9:132900827 [GRCh38]
Chr9:135776214 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-3dup duplication Tuberous sclerosis 1 [RCV000536110]|not specified [RCV000485875] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 likely pathogenic|benign|likely benign
NM_000368.5(TSC1):c.597C>T (p.Phe199=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024739]|Lymphangiomyomatosis [RCV002496840]|Tuberous sclerosis 1 [RCV000457356]|not provided [RCV001540781] Chr9:132921885 [GRCh38]
Chr9:135797272 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568537]|Lymphangiomyomatosis [RCV002489078]|Tuberous sclerosis 1 [RCV000457363] Chr9:132910596 [GRCh38]
Chr9:135785983 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015388]|Tuberous sclerosis 1 [RCV000464911] Chr9:132901697 [GRCh38]
Chr9:135777084 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018981]|Ovarian cancer [RCV003153637]|Tuberous sclerosis 1 [RCV000468565] Chr9:132896553 [GRCh38]
Chr9:135771940 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000476200] Chr9:132902771 [GRCh38]
Chr9:135778158 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1696_1697insTC (p.Pro566fs) insertion not provided [RCV000484921] Chr9:132905881..132905882 [GRCh38]
Chr9:135781268..135781269 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.870C>T (p.Ala290=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018212]|TSC1-related condition [RCV003902712]|Tuberous sclerosis 1 [RCV000457654] Chr9:132912325 [GRCh38]
Chr9:135787712 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.211-10del deletion Tuberous sclerosis 1 [RCV001446957] Chr9:132925749 [GRCh38]
Chr9:135801136 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429541]|Isolated focal cortical dysplasia type II [RCV003476098]|Tuberous sclerosis 1 [RCV000461435] Chr9:132903706 [GRCh38]
Chr9:135779093 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258915]|Tuberous sclerosis 1 [RCV000461460]|not specified [RCV001174799] Chr9:132905993 [GRCh38]
Chr9:135781380 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010956]|Tuberous sclerosis 1 [RCV001086396]|not provided [RCV000827336] Chr9:132907317 [GRCh38]
Chr9:135782704 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168921]|Tuberous sclerosis 1 [RCV001478522] Chr9:132904421 [GRCh38]
Chr9:135779808 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567570]|Tuberous sclerosis 1 [RCV000472665] Chr9:132896334 [GRCh38]
Chr9:135771721 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2196T>C (p.His732=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014739]|Tuberous sclerosis 1 [RCV000457762] Chr9:132903663 [GRCh38]
Chr9:135779050 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.255T>C (p.Thr85=) single nucleotide variant Tuberous sclerosis 1 [RCV001427787] Chr9:132925695 [GRCh38]
Chr9:135801082 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1367dup (p.Ser457fs) duplication Tuberous sclerosis 1 [RCV001856826]|not provided [RCV000485973] Chr9:132906801..132906802 [GRCh38]
Chr9:135782188..135782189 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374808]|Lymphangiomyomatosis [RCV002506130]|Tuberous sclerosis 1 [RCV000458001] Chr9:132912283 [GRCh38]
Chr9:135787670 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429540]|Tuberous sclerosis 1 [RCV000458112] Chr9:132901600 [GRCh38]
Chr9:135776987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000465650] Chr9:132896609 [GRCh38]
Chr9:135771996 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1677C>T (p.Cys559=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575849]|Lymphangiomyomatosis [RCV002496842]|Tuberous sclerosis 1 [RCV000465731]|not provided [RCV001696911] Chr9:132905901 [GRCh38]
Chr9:135781288 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1439-20_1439-9del deletion Tuberous sclerosis 1 [RCV000473081] Chr9:132906148..132906159 [GRCh38]
Chr9:135781535..135781546 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1388del (p.Phe462_Leu463insTer) deletion not provided [RCV000478998] Chr9:132906781 [GRCh38]
Chr9:135782168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1263+9C>T single nucleotide variant Tuberous sclerosis 1 [RCV000554083] Chr9:132910562 [GRCh38]
Chr9:135785949 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs) duplication Tuberous sclerosis 1 [RCV000458177] Chr9:132902635..132902636 [GRCh38]
Chr9:135778022..135778023 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.385C>G (p.Leu129Val) single nucleotide variant Tuberous sclerosis 1 [RCV000462113] Chr9:132923471 [GRCh38]
Chr9:135798858 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323742]|Tuberous sclerosis 1 [RCV000462134] Chr9:132896639 [GRCh38]
Chr9:135772026 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.519G>A (p.Ala173=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023702]|Isolated focal cortical dysplasia type II [RCV001165739]|Tuberous sclerosis 1 [RCV000462166]|not specified [RCV000601036] Chr9:132921963 [GRCh38]
Chr9:135797350 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418418]|Tuberous sclerosis 1 [RCV000469642] Chr9:132904429 [GRCh38]
Chr9:135779816 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2814-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV000473175] Chr9:132897352 [GRCh38]
Chr9:135772739 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350040]|Tuberous sclerosis 1 [RCV000473192]|not provided [RCV003328589] Chr9:132910640 [GRCh38]
Chr9:135786027 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575006]|Tuberous sclerosis 1 [RCV000473277] Chr9:132910634 [GRCh38]
Chr9:135786021 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1167A>C (p.Gly389=) single nucleotide variant Tuberous sclerosis 1 [RCV000477044] Chr9:132910667 [GRCh38]
Chr9:135786054 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+9C>T single nucleotide variant Tuberous sclerosis 1 [RCV000477153] Chr9:132905572 [GRCh38]
Chr9:135780959 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565985]|Tuberous sclerosis 1 [RCV000458416]|not provided [RCV000610190] Chr9:132912333 [GRCh38]
Chr9:135787720 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323744]|Tuberous sclerosis 1 [RCV000462240] Chr9:132911005 [GRCh38]
Chr9:135786392 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010974]|Tuberous sclerosis 1 [RCV000462469] Chr9:132906825 [GRCh38]
Chr9:135782212 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418419]|Tuberous sclerosis 1 [RCV000466052] Chr9:132904429 [GRCh38]
Chr9:135779816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256313]|Tuberous sclerosis 1 [RCV001418334]|not provided [RCV000466187] Chr9:132897578 [GRCh38]
Chr9:135772965 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.159C>T (p.Ser53=) single nucleotide variant Tuberous sclerosis 1 [RCV001437620] Chr9:132927252 [GRCh38]
Chr9:135802639 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010365]|Tuberous sclerosis 1 [RCV000477300] Chr9:132910577 [GRCh38]
Chr9:135785964 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.171A>G (p.Ala57=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012866]|Tuberous sclerosis 1 [RCV000477418]|not provided [RCV003886401] Chr9:132927240 [GRCh38]
Chr9:135802627 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.590_594del (p.Cys197fs) deletion not provided [RCV000479822] Chr9:132921888..132921892 [GRCh38]
Chr9:135797275..135797279 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2208+2T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565398]|Tuberous sclerosis 1 [RCV001333394]|Tuberous sclerosis syndrome [RCV000781918]|not provided [RCV000487211] Chr9:132903649 [GRCh38]
Chr9:135779036 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323841]|Tuberous sclerosis 1 [RCV000684873]|not provided [RCV000478581] Chr9:132911004 [GRCh38]
Chr9:135786391 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2614G>C (p.Asp872His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016107]|Tuberous sclerosis 1 [RCV000458622] Chr9:132900726 [GRCh38]
Chr9:135776113 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013463]|Tuberous sclerosis 1 [RCV000462615] Chr9:132905709 [GRCh38]
Chr9:135781096 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411506]|Isolated focal cortical dysplasia type II [RCV003476099]|Tuberous sclerosis 1 [RCV000462659] Chr9:132905760 [GRCh38]
Chr9:135781147 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2165del (p.Lys722fs) deletion Tuberous sclerosis 1 [RCV000466326] Chr9:132903694 [GRCh38]
Chr9:135779081 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2976-8T>G single nucleotide variant Tuberous sclerosis 1 [RCV001454135] Chr9:132896762 [GRCh38]
Chr9:135772149 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339180]|Tuberous sclerosis 1 [RCV000469971] Chr9:132910639 [GRCh38]
Chr9:135786026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) single nucleotide variant Craniopharyngioma [RCV000761012]|Hereditary cancer-predisposing syndrome [RCV001011148]|Tuberous sclerosis 1 [RCV000470038]|not provided [RCV001591099] Chr9:132906814 [GRCh38]
Chr9:135782201 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491881]|Tuberous sclerosis 1 [RCV000473830]|not provided [RCV001090688] Chr9:132905662 [GRCh38]
Chr9:135781049 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1264-6T>A single nucleotide variant Tuberous sclerosis 1 [RCV000473856] Chr9:132907376 [GRCh38]
Chr9:135782763 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) indel Tuberous sclerosis syndrome [RCV000509053] Chr9:132905874..132905880 [GRCh38]
Chr9:135781261..135781267 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568507]|Tuberous sclerosis 1 [RCV003505122] Chr9:132905611 [GRCh38]
Chr9:135780998 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs) indel Hereditary cancer-predisposing syndrome [RCV000491000] Chr9:132923466..132923467 [GRCh38]
Chr9:135798853..135798854 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3159C>T (p.His1053=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491150]|Tuberous sclerosis 1 [RCV000642101] Chr9:132896571 [GRCh38]
Chr9:135771958 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491384]|Tuberous sclerosis 1 [RCV001856934] Chr9:132897226 [GRCh38]
Chr9:135772613 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.637dup (p.Leu213fs) duplication Hereditary cancer-predisposing syndrome [RCV000491175] Chr9:132921844..132921845 [GRCh38]
Chr9:135797231..135797232 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491561] Chr9:132900810 [GRCh38]
Chr9:135776197 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458267]|Tuberous sclerosis 1 [RCV000698050] Chr9:132896248 [GRCh38]
Chr9:135771635 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+5del deletion Hereditary cancer-predisposing syndrome [RCV002422547]|Tuberous sclerosis 1 [RCV000698382]|not provided [RCV000840989] Chr9:132904406 [GRCh38]
Chr9:135779793 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val) single nucleotide variant Tuberous sclerosis 1 [RCV000535695]|not provided [RCV003238769] Chr9:132897193 [GRCh38]
Chr9:135772580 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018500]|Tuberous sclerosis 1 [RCV000532264]|not specified [RCV001821552] Chr9:132896651 [GRCh38]
Chr9:135772038 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2001_2004del (p.Leu667fs) deletion not provided [RCV000523514] Chr9:132904448..132904451 [GRCh38]
Chr9:135779835..135779838 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs) duplication Tuberous sclerosis syndrome [RCV003317737] Chr9:132912401..132912402 [GRCh38]
Chr9:135787788..135787789 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1258A>G (p.Arg420Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000533454] Chr9:132910576 [GRCh38]
Chr9:135785963 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+3A>G single nucleotide variant Tuberous sclerosis 1 [RCV000533666] Chr9:132905578 [GRCh38]
Chr9:135780965 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1078A>T (p.Thr360Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000533752] Chr9:132911065 [GRCh38]
Chr9:135786452 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569926]|Lymphangiomyomatosis [RCV002506385]|Tuberous sclerosis 1 [RCV000870087]|not provided [RCV001697389] Chr9:132905802 [GRCh38]
Chr9:135781189 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2626-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431623]|Tuberous sclerosis 1 [RCV000556471]|not provided [RCV001722483] Chr9:132897614 [GRCh38]
Chr9:135773001 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.850dup (p.Arg284fs) duplication Tuberous sclerosis 1 [RCV000538529] Chr9:132912344..132912345 [GRCh38]
Chr9:135787731..135787732 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575387]|Tuberous sclerosis 1 [RCV001853805]|not provided [RCV003228962] Chr9:132905759 [GRCh38]
Chr9:135781146 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His) single nucleotide variant Tuberous sclerosis 1 [RCV000556565] Chr9:132896330 [GRCh38]
Chr9:135771717 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570116]|Isolated focal cortical dysplasia type II [RCV003471909]|Tuberous sclerosis 1 [RCV001223273] Chr9:132896718 [GRCh38]
Chr9:135772105 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367854]|Tuberous sclerosis 1 [RCV000534666] Chr9:132928772 [GRCh38]
Chr9:135804159 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573153]|Tuberous sclerosis 1 [RCV000642079] Chr9:132896301 [GRCh38]
Chr9:135771688 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575774]|Tuberous sclerosis 1 [RCV001339310] Chr9:132897343 [GRCh38]
Chr9:135772730 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456132]|Tuberous sclerosis 1 [RCV000530044] Chr9:132896429 [GRCh38]
Chr9:135771816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.273G>C (p.Ser91=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440291]|Tuberous sclerosis 1 [RCV000642063] Chr9:132925677 [GRCh38]
Chr9:135801064 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-11dup duplication Tuberous sclerosis 1 [RCV000642076] Chr9:132904462..132904463 [GRCh38]
Chr9:135779849..135779850 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1848C>T (p.Ala616=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406393]|Tuberous sclerosis 1 [RCV000642083] Chr9:132905730 [GRCh38]
Chr9:135781117 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2136T>C (p.His712=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422310]|Tuberous sclerosis 1 [RCV000642086] Chr9:132903723 [GRCh38]
Chr9:135779110 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.951G>A (p.Leu317=) single nucleotide variant Tuberous sclerosis 1 [RCV000642091] Chr9:132911531 [GRCh38]
Chr9:135786918 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.12:g.(?_132896229)_(132928878_?)del deletion Tuberous sclerosis 1 [RCV000642102] Chr9:132896229..132928878 [GRCh38]
Chr9:135771616..135804265 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135798715)_(135804279_?)dup duplication Tuberous sclerosis 1 [RCV000642103] Chr9:132923328..132928892 [GRCh38]
Chr9:135798715..135804279 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003295991]|Tuberous sclerosis 1 [RCV003505319] Chr9:132906044 [GRCh38]
Chr9:135781431 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003295992]|Tuberous sclerosis 1 [RCV003614217] Chr9:132902682 [GRCh38]
Chr9:135778069 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.51C>A (p.Pro17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296843] Chr9:132928822 [GRCh38]
Chr9:135804209 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3256A>C (p.Ser1086Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296848] Chr9:132896474 [GRCh38]
Chr9:135771861 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3248G>T (p.Ser1083Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296849] Chr9:132896482 [GRCh38]
Chr9:135771869 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2886C>A (p.Ile962=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296851] Chr9:132897273 [GRCh38]
Chr9:135772660 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2704C>A (p.Leu902Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296852] Chr9:132897532 [GRCh38]
Chr9:135772919 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2509A>C (p.Asn837His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296854] Chr9:132900831 [GRCh38]
Chr9:135776218 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1941A>T (p.Glu647Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296863] Chr9:132905637 [GRCh38]
Chr9:135781024 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1355G>T (p.Gly452Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296866] Chr9:132906814 [GRCh38]
Chr9:135782201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1294C>A (p.Leu432Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296867] Chr9:132907340 [GRCh38]
Chr9:135782727 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1227T>G (p.Ile409Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296868] Chr9:132910607 [GRCh38]
Chr9:135785994 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1031C>A (p.Ala344Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296869] Chr9:132911112 [GRCh38]
Chr9:135786499 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.448C>A (p.His150Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296870] Chr9:132923408 [GRCh38]
Chr9:135798795 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.225G>T (p.Arg75Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296876] Chr9:132925725 [GRCh38]
Chr9:135801112 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296877]|not provided [RCV003322939] Chr9:132905592 [GRCh38]
Chr9:135780979 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296878]|Tuberous sclerosis 1 [RCV003614220] Chr9:132896533 [GRCh38]
Chr9:135771920 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296879] Chr9:132928875 [GRCh38]
Chr9:135804262 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2091A>G (p.Leu697=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296896] Chr9:132903768 [GRCh38]
Chr9:135779155 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3230C>G (p.Thr1077Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296897] Chr9:132896500 [GRCh38]
Chr9:135771887 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-5_2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002256402]|Lymphangiomyomatosis [RCV002506398]|Tuberous sclerosis 1 [RCV000202910]|not provided [RCV000586176]|not specified [RCV001796128] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.24_42delinsCAA (p.Glu9fs) indel Tuberous sclerosis 1 [RCV000539497] Chr9:132928831..132928849 [GRCh38]
Chr9:135804218..135804236 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.135G>A (p.Leu45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570929]|Tuberous sclerosis 1 [RCV000642009]|not provided [RCV000713904] Chr9:132927276 [GRCh38]
Chr9:135802663 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1301dup (p.Gln435fs) duplication Tuberous sclerosis 1 [RCV000641977] Chr9:132907332..132907333 [GRCh38]
Chr9:135782719..135782720 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000642007]|not provided [RCV003432681] Chr9:132927277 [GRCh38]
Chr9:135802664 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.818A>G (p.Asp273Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000642051] Chr9:132912377 [GRCh38]
Chr9:135787764 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.99C>T (p.Leu33=) single nucleotide variant Tuberous sclerosis 1 [RCV000558328] Chr9:132928774 [GRCh38]
Chr9:135804161 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.725T>C (p.Leu242Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000535860] Chr9:132921375 [GRCh38]
Chr9:135796762 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1223A>G (p.His408Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000540133] Chr9:132910611 [GRCh38]
Chr9:135785998 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573969]|Tuberous sclerosis 1 [RCV000698607] Chr9:132896344 [GRCh38]
Chr9:135771731 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1107G>A (p.Leu369=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438377]|Tuberous sclerosis 1 [RCV000558955] Chr9:132911036 [GRCh38]
Chr9:135786423 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003302837]|Isolated focal cortical dysplasia type II [RCV003470752]|Tuberous sclerosis 1 [RCV000540423]|not provided [RCV001814185] Chr9:132901621 [GRCh38]
Chr9:135777008 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574109]|Tuberous sclerosis 1 [RCV000689229] Chr9:132896244 [GRCh38]
Chr9:135771631 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019388]|Tuberous sclerosis 1 [RCV001494562]|not specified [RCV000600704] Chr9:132896490 [GRCh38]
Chr9:135771877 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013415]|Tuberous sclerosis 1 [RCV000536952]|not provided [RCV003159132] Chr9:132905707 [GRCh38]
Chr9:135781094 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2626-6_2626-4del deletion Hereditary cancer-predisposing syndrome [RCV002256368]|Lymphangiomyomatosis [RCV002483423]|not provided [RCV000537076] Chr9:132897614..132897616 [GRCh38]
Chr9:135773001..135773003 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020229]|Tuberous sclerosis 1 [RCV000537301]|not specified [RCV000517515] Chr9:132925610 [GRCh38]
Chr9:135800997 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574531]|Tuberous sclerosis 1 [RCV001205610]|not provided [RCV000602459] Chr9:132896317 [GRCh38]
Chr9:135771704 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1344T>C (p.Pro448=) single nucleotide variant Lymphangiomyomatosis [RCV002499081]|Tuberous sclerosis 1 [RCV000642062] Chr9:132906825 [GRCh38]
Chr9:135782212 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1541G>T (p.Gly514Val) single nucleotide variant Inborn genetic diseases [RCV003242309] Chr9:132906037 [GRCh38]
Chr9:135781424 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.402G>A (p.Leu134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572242]|TSC1-related condition [RCV003900287]|Tuberous sclerosis 1 [RCV000869542]|not specified [RCV000608946] Chr9:132923454 [GRCh38]
Chr9:135798841 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1581G>A (p.Gln527=) single nucleotide variant Tuberous sclerosis 1 [RCV000642075] Chr9:132905997 [GRCh38]
Chr9:135781384 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1954C>T (p.Leu652=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422311]|Tuberous sclerosis 1 [RCV000642090] Chr9:132905624 [GRCh38]
Chr9:135781011 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2511C>T (p.Asn837=) single nucleotide variant Tuberous sclerosis 1 [RCV001494320] Chr9:132900829 [GRCh38]
Chr9:135776216 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135771622)_(135804259_?)dup duplication Tuberous sclerosis 1 [RCV000642104] Chr9:132896235..132928872 [GRCh38]
Chr9:135771622..135804259 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572362]|Tuberous sclerosis 1 [RCV002526921] Chr9:132896589 [GRCh38]
Chr9:135771976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574780]|Tuberous sclerosis 1 [RCV001068166]|not specified [RCV000605673] Chr9:132896719 [GRCh38]
Chr9:135772106 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002395390]|Tuberous sclerosis 1 [RCV000541596] Chr9:132906089 [GRCh38]
Chr9:135781476 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3		 drug response
NM_000368.5(TSC1):c.1302A>G (p.Arg434=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257806]|TSC1-related condition [RCV003900177]|Tuberous sclerosis 1 [RCV000556788] Chr9:132907332 [GRCh38]
Chr9:135782719 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003159829]|Tuberous sclerosis 1 [RCV000534033] Chr9:132902607 [GRCh38]
Chr9:135777994 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325253]|Isolated focal cortical dysplasia type II [RCV003472034]|Tuberous sclerosis 1 [RCV000641956] Chr9:132925638 [GRCh38]
Chr9:135801025 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val) single nucleotide variant Tuberous sclerosis 1 [RCV000641957] Chr9:132896524 [GRCh38]
Chr9:135771911 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1073del (p.Pro358fs) deletion Tuberous sclerosis 1 [RCV000641959] Chr9:132911070 [GRCh38]
Chr9:135786457 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397230]|Tuberous sclerosis 1 [RCV000641965]|not provided [RCV003126889] Chr9:132905807 [GRCh38]
Chr9:135781194 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.106+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162893]|Tuberous sclerosis 1 [RCV000641966] Chr9:132928762 [GRCh38]
Chr9:135804149 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.670A>T (p.Met224Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025559]|Lymphangiomyomatosis [RCV002477414]|Tuberous sclerosis 1 [RCV000641970] Chr9:132921430 [GRCh38]
Chr9:135796817 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2953G>A (p.Ala985Thr) single nucleotide variant Tuberous sclerosis 1 [RCV000641972] Chr9:132897206 [GRCh38]
Chr9:135772593 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000641976] Chr9:132902714 [GRCh38]
Chr9:135778101 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012234]|Tuberous sclerosis 1 [RCV000641984] Chr9:132906007 [GRCh38]
Chr9:135781394 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.751G>T (p.Glu251Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000641998]|not provided [RCV003117449] Chr9:132912444 [GRCh38]
Chr9:135787831 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000642004] Chr9:132904446 [GRCh38]
Chr9:135779833 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1607T>C (p.Leu536Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000642011] Chr9:132905971 [GRCh38]
Chr9:135781358 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2974del (p.Arg992fs) deletion Tuberous sclerosis 1 [RCV000642020] Chr9:132897185 [GRCh38]
Chr9:135772572 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000642023]|not provided [RCV001771877] Chr9:132928845 [GRCh38]
Chr9:135804232 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016895]|Tuberous sclerosis 1 [RCV000642026] Chr9:132897255 [GRCh38]
Chr9:135772642 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1208C>A (p.Ser403Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000642033] Chr9:132910626 [GRCh38]
Chr9:135786013 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.289A>G (p.Ile97Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016847]|Tuberous sclerosis 1 [RCV000642054] Chr9:132925661 [GRCh38]
Chr9:135801048 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013260]|Tuberous sclerosis 1 [RCV000642060] Chr9:132905769 [GRCh38]
Chr9:135781156 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2392-7T>C single nucleotide variant Tuberous sclerosis 1 [RCV000642065] Chr9:132901706 [GRCh38]
Chr9:135777093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2934T>C (p.Leu978=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017567]|Tuberous sclerosis 1 [RCV000642072] Chr9:132897225 [GRCh38]
Chr9:135772612 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386066]|Tuberous sclerosis 1 [RCV000642080]|not provided [RCV001577881] Chr9:132921366 [GRCh38]
Chr9:135796753 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1617C>T (p.Ser539=) single nucleotide variant Tuberous sclerosis 1 [RCV000642087] Chr9:132905961 [GRCh38]
Chr9:135781348 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=) single nucleotide variant Tuberous sclerosis 1 [RCV000642094] Chr9:132896658 [GRCh38]
Chr9:135772045 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1443A>C (p.Ala481=) single nucleotide variant Tuberous sclerosis 1 [RCV000642061] Chr9:132906135 [GRCh38]
Chr9:135781522 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.106+9A>G single nucleotide variant Tuberous sclerosis 1 [RCV000642074] Chr9:132928758 [GRCh38]
Chr9:135804145 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1491G>A (p.Val497=) single nucleotide variant Tuberous sclerosis 1 [RCV000642078] Chr9:132906087 [GRCh38]
Chr9:135781474 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1257C>T (p.Pro419=) single nucleotide variant Tuberous sclerosis 1 [RCV000642088] Chr9:132910577 [GRCh38]
Chr9:135785964 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020279]|Tuberous sclerosis 1 [RCV000642098]|not provided [RCV003432682] Chr9:132896301 [GRCh38]
Chr9:135771688 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2940A>G (p.Glu980=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162897]|Tuberous sclerosis 1 [RCV000642099] Chr9:132897219 [GRCh38]
Chr9:135772606 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.359T>C (p.Leu120Pro) single nucleotide variant Astrocytoma [RCV000626671] Chr9:132925591 [GRCh38]
Chr9:135800978 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438379]|Tuberous sclerosis 1 [RCV000555924] Chr9:132897526 [GRCh38]
Chr9:135772913 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438383]|Isolated focal cortical dysplasia type II [RCV003459235]|Tuberous sclerosis 1 [RCV000536602] Chr9:132896744 [GRCh38]
Chr9:135772131 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000559171] Chr9:132900793 [GRCh38]
Chr9:135776180 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574197]|Tuberous sclerosis 1 [RCV000641971] Chr9:132897514 [GRCh38]
Chr9:135772901 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1216T>C (p.Tyr406His) single nucleotide variant Tuberous sclerosis 1 [RCV000642035] Chr9:132910618 [GRCh38]
Chr9:135786005 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-17C>T single nucleotide variant not specified [RCV000615465] Chr9:132928889 [GRCh38]
Chr9:135804276 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.65G>C (p.Arg22Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000559688] Chr9:132928808 [GRCh38]
Chr9:135804195 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341337]|Lymphangiomyomatosis [RCV002476152]|Tuberous sclerosis 1 [RCV000541026] Chr9:132923378 [GRCh38]
Chr9:135798765 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2209-11G>T single nucleotide variant Tuberous sclerosis 1 [RCV002064203]|not specified [RCV000601609] Chr9:132902798 [GRCh38]
Chr9:135778185 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404685]|Tuberous sclerosis 1 [RCV001464437]|not specified [RCV000609959] Chr9:132905982 [GRCh38]
Chr9:135781369 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1130T>G (p.Phe377Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000537413] Chr9:132911013 [GRCh38]
Chr9:135786400 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391+14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002064131]|not specified [RCV000616134] Chr9:132902591 [GRCh38]
Chr9:135777978 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448702]|Tuberous sclerosis 1 [RCV000537668] Chr9:132902667 [GRCh38]
Chr9:135778054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup) microsatellite Hereditary cancer-predisposing syndrome [RCV003372747]|Tuberous sclerosis 1 [RCV000537868] Chr9:132896600..132896601 [GRCh38]
Chr9:135771987..135771988 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.1577C>T (p.Ser526Phe) single nucleotide variant not specified [RCV000613044] Chr9:132906001 [GRCh38]
Chr9:135781388 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-15A>G single nucleotide variant Tuberous sclerosis 1 [RCV002062996]|not specified [RCV000613174] Chr9:132900852 [GRCh38]
Chr9:135776239 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.975G>T (p.Gln325His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003159831]|Tuberous sclerosis 1 [RCV000533447] Chr9:132911507 [GRCh38]
Chr9:135786894 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3064A>C (p.Arg1022=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003295984] Chr9:132896666 [GRCh38]
Chr9:135772053 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2127del (p.Arg709fs) deletion Tuberous sclerosis 1 [RCV003239283] Chr9:132903732 [GRCh38]
Chr9:135779119 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.12:g.(?_132910551)_(132912477_?)del deletion Tuberous sclerosis 1 [RCV000560747] Chr9:132910551..132912477 [GRCh38]
Chr9:135785938..135787864 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257807]|Lymphangiomyomatosis [RCV001195754]|Tuberous sclerosis 1 [RCV000534300]|not provided [RCV001545105] Chr9:132907306 [GRCh38]
Chr9:135782693 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256367]|Tuberous sclerosis 1 [RCV000534575]|not provided [RCV001576295] Chr9:132904422 [GRCh38]
Chr9:135779809 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372767]|Tuberous sclerosis 1 [RCV001440862]|not specified [RCV000608280] Chr9:132901592 [GRCh38]
Chr9:135776979 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440289]|Tuberous sclerosis 1 [RCV000641968] Chr9:132897423 [GRCh38]
Chr9:135772810 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2097C>A (p.His699Gln) single nucleotide variant Tuberous sclerosis 1 [RCV000641999] Chr9:132903762 [GRCh38]
Chr9:135779149 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013644]|Tuberous sclerosis 1 [RCV001496179]|Tuberous sclerosis syndrome [RCV001554285] Chr9:132905644 [GRCh38]
Chr9:135781031 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.358C>A (p.Leu120Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000642013] Chr9:132925592 [GRCh38]
Chr9:135800979 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) microsatellite Hereditary cancer-predisposing syndrome [RCV002388085]|Tuberous sclerosis 1 [RCV000642017] Chr9:132906106..132906108 [GRCh38]
Chr9:135781493..135781495 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325255]|Tuberous sclerosis 1 [RCV000642077] Chr9:132896610 [GRCh38]
Chr9:135771997 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.549T>C (p.Ser183=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024180]|Tuberous sclerosis 1 [RCV000642081] Chr9:132921933 [GRCh38]
Chr9:135797320 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1263+4C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448701]|Tuberous sclerosis 1 [RCV000539194]|not provided [RCV000853543] Chr9:132910567 [GRCh38]
Chr9:135785954 [GRCh37]
Chr9:9q34.13		 uncertain significance|not provided
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358824]|Tuberous sclerosis 1 [RCV000642021]|not provided [RCV003329317] Chr9:132910623 [GRCh38]
Chr9:135786010 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) single nucleotide variant Tuberous sclerosis 1 [RCV000642029]|not provided [RCV001771878] Chr9:132907302 [GRCh38]
Chr9:135782689 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258984]|Tuberous sclerosis 1 [RCV000642030] Chr9:132897318 [GRCh38]
Chr9:135772705 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424446]|Tuberous sclerosis 1 [RCV000642041]|not provided [RCV003480731] Chr9:132897599 [GRCh38]
Chr9:135772986 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369687]|Tuberous sclerosis 1 [RCV000642046] Chr9:132912293 [GRCh38]
Chr9:135787680 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449016]|Tuberous sclerosis 1 [RCV000642050] Chr9:132902665 [GRCh38]
Chr9:135778052 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1046C>A (p.Pro349Gln) single nucleotide variant Tuberous sclerosis 1 [RCV000642053] Chr9:132911097 [GRCh38]
Chr9:135786484 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.813T>C (p.Tyr271=) single nucleotide variant Tuberous sclerosis 1 [RCV000642055] Chr9:132912382 [GRCh38]
Chr9:135787769 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420442]|Tuberous sclerosis 1 [RCV000535456] Chr9:132903809 [GRCh38]
Chr9:135779196 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1007G>T (p.Arg336Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296838] Chr9:132911475 [GRCh38]
Chr9:135786862 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1608A>G (p.Leu536=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296839] Chr9:132905970 [GRCh38]
Chr9:135781357 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296840] Chr9:132925700 [GRCh38]
Chr9:135801087 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2393C>G (p.Thr798Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296841] Chr9:132901698 [GRCh38]
Chr9:135777085 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.416T>A (p.Met139Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296871] Chr9:132923440 [GRCh38]
Chr9:135798827 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-13C>T single nucleotide variant not specified [RCV000608884] Chr9:132906152 [GRCh38]
Chr9:135781539 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404457]|Tuberous sclerosis 1 [RCV000558142] Chr9:132927245 [GRCh38]
Chr9:135802632 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.344C>A (p.Ser115Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296872] Chr9:132925606 [GRCh38]
Chr9:135800993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.305C>A (p.Ser102Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296873] Chr9:132925645 [GRCh38]
Chr9:135801032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.236A>T (p.Tyr79Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296874] Chr9:132925714 [GRCh38]
Chr9:135801101 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.648T>C (p.Phe216=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296881] Chr9:132921834 [GRCh38]
Chr9:135797221 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2905T>G (p.Leu969Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296886] Chr9:132897254 [GRCh38]
Chr9:135772641 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.108C>G (p.Asp36Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296893] Chr9:132927303 [GRCh38]
Chr9:135802690 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3107G>T (p.Gly1036Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296894] Chr9:132896623 [GRCh38]
Chr9:135772010 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1998-81A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296895] Chr9:132904535 [GRCh38]
Chr9:135779922 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000558526] Chr9:132904425 [GRCh38]
Chr9:135779812 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573925]|Tuberous sclerosis 1 [RCV000697288]|not provided [RCV003139872] Chr9:132905900 [GRCh38]
Chr9:135781287 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256366]|Tuberous sclerosis 1 [RCV000540240]|not provided [RCV001712770] Chr9:132906015 [GRCh38]
Chr9:135781402 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.914-10T>C single nucleotide variant Tuberous sclerosis 1 [RCV000642057] Chr9:132911578 [GRCh38]
Chr9:135786965 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162895]|Tuberous sclerosis 1 [RCV000642058] Chr9:132896586 [GRCh38]
Chr9:135771973 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010682]|Tuberous sclerosis 1 [RCV000642064]|not provided [RCV001692245] Chr9:132907361 [GRCh38]
Chr9:135782748 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1476A>C (p.Ala492=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388086]|Tuberous sclerosis 1 [RCV001452864] Chr9:132906102 [GRCh38]
Chr9:135781489 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458066]|Tuberous sclerosis 1 [RCV000642073] Chr9:132896328 [GRCh38]
Chr9:135771715 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2391+8C>T single nucleotide variant Tuberous sclerosis 1 [RCV000642085] Chr9:132902597 [GRCh38]
Chr9:135777984 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.879C>T (p.Thr293=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369688]|Tuberous sclerosis 1 [RCV000642097] Chr9:132912316 [GRCh38]
Chr9:135787703 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-144+17C>T single nucleotide variant not specified [RCV000604250] Chr9:132944526 [GRCh38]
Chr9:135819913 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.186C>G (p.Thr62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255472]|Tuberous sclerosis 1 [RCV000863439]|not specified [RCV000602287] Chr9:132927225 [GRCh38]
Chr9:135802612 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438380]|Tuberous sclerosis 1 [RCV000552329] Chr9:132897476 [GRCh38]
Chr9:135772863 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001204906]|not provided [RCV000512850] Chr9:132905680 [GRCh38]
Chr9:135781067 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+2T>C single nucleotide variant not provided [RCV000513092] Chr9:132911451 [GRCh38]
Chr9:135786838 [GRCh37]
Chr9:9q34.13		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.1539A>G (p.Pro513=) single nucleotide variant Tuberous sclerosis 1 [RCV000642067] Chr9:132906039 [GRCh38]
Chr9:135781426 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325254]|Tuberous sclerosis 1 [RCV000642070] Chr9:132896369 [GRCh38]
Chr9:135771756 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-9G>A single nucleotide variant Tuberous sclerosis 1 [RCV000642092] Chr9:132910701 [GRCh38]
Chr9:135786088 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017513]|Tuberous sclerosis 1 [RCV000870405]|not provided [RCV001531749]|not specified [RCV000606735] Chr9:132897235 [GRCh38]
Chr9:135772622 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1139C>T (p.Thr380Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000641961] Chr9:132911004 [GRCh38]
Chr9:135786391 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) single nucleotide variant Lymphangiomyomatosis [RCV002499080]|Tuberous sclerosis 1 [RCV000641969]|not provided [RCV002284415] Chr9:132901642 [GRCh38]
Chr9:135777029 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del) deletion Hereditary cancer-predisposing syndrome [RCV002424442]|Tuberous sclerosis 1 [RCV000641973] Chr9:132911057..132911059 [GRCh38]
Chr9:135786444..135786446 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+4A>C single nucleotide variant Tuberous sclerosis 1 [RCV000641979] Chr9:132912278 [GRCh38]
Chr9:135787665 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000641980]|not provided [RCV003128675] Chr9:132927219 [GRCh38]
Chr9:135802606 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397231]|Tuberous sclerosis 1 [RCV000641987] Chr9:132905784 [GRCh38]
Chr9:135781171 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2778G>C (p.Gln926His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303033]|Tuberous sclerosis 1 [RCV000641958] Chr9:132897458 [GRCh38]
Chr9:135772845 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343281]|Tuberous sclerosis 1 [RCV000641991] Chr9:132921934 [GRCh38]
Chr9:135797321 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257896]|Tuberous sclerosis 1 [RCV000641994]|not provided [RCV001766381] Chr9:132910578 [GRCh38]
Chr9:135785965 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458064]|Tuberous sclerosis 1 [RCV000641995]|not provided [RCV001771875] Chr9:132927302 [GRCh38]
Chr9:135802689 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.73G>A (p.Val25Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026391]|Tuberous sclerosis 1 [RCV000642002]|not provided [RCV001551730] Chr9:132928800 [GRCh38]
Chr9:135804187 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406392]|Tuberous sclerosis 1 [RCV000642010]|not provided [RCV001771876] Chr9:132910584 [GRCh38]
Chr9:135785971 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022780]|Tuberous sclerosis 1 [RCV000642014] Chr9:132923396 [GRCh38]
Chr9:135798783 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424444]|Tuberous sclerosis 1 [RCV000642015] Chr9:132897596 [GRCh38]
Chr9:135772983 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256433]|Tuberous sclerosis 1 [RCV000642027]|not provided [RCV001548709] Chr9:132896275 [GRCh38]
Chr9:135771662 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1442C>T (p.Ala481Val) single nucleotide variant Tuberous sclerosis 1 [RCV000642036] Chr9:132906136 [GRCh38]
Chr9:135781523 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440290]|Tuberous sclerosis 1 [RCV000642040]|not provided [RCV003313121] Chr9:132897292 [GRCh38]
Chr9:135772679 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000642042]|not provided [RCV001771879] Chr9:132912398 [GRCh38]
Chr9:135787785 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1376T>A (p.Leu459His) single nucleotide variant Tuberous sclerosis 1 [RCV000642045] Chr9:132906793 [GRCh38]
Chr9:135782180 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162894]|Tuberous sclerosis 1 [RCV000642047] Chr9:132925616 [GRCh38]
Chr9:135801003 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2656A>T (p.Lys886Ter) single nucleotide variant not provided [RCV000658376] Chr9:132897580 [GRCh38]
Chr9:135772967 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000660333] Chr9:132911500 [GRCh38]
Chr9:135786887 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1029+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303090]|Tuberous sclerosis 1 [RCV000660335]|not provided [RCV002477474] Chr9:132911450 [GRCh38]
Chr9:135786837 [GRCh37]
Chr9:9q34.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.508+3A>G single nucleotide variant not provided [RCV000657976] Chr9:132923345 [GRCh38]
Chr9:135798732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.569G>A (p.Arg190His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024421]|Tuberous sclerosis 1 [RCV000685265] Chr9:132921913 [GRCh38]
Chr9:135797300 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1849del (p.His617fs) deletion Tuberous sclerosis 1 [RCV000685891] Chr9:132905729 [GRCh38]
Chr9:135781116 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1016C>T (p.Thr339Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000700295] Chr9:132911466 [GRCh38]
Chr9:135786853 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000698701] Chr9:132897226 [GRCh38]
Chr9:135772613 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-2A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163230]|Tuberous sclerosis 1 [RCV000699092] Chr9:132897612 [GRCh38]
Chr9:135772999 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr) single nucleotide variant Tuberous sclerosis 1 [RCV000697854] Chr9:132903661 [GRCh38]
Chr9:135779048 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr) single nucleotide variant Tuberous sclerosis 1 [RCV000699632] Chr9:132897480 [GRCh38]
Chr9:135772867 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003472226]|Tuberous sclerosis 1 [RCV000698486] Chr9:132906113 [GRCh38]
Chr9:135781500 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1253C>G (p.Pro418Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000685724] Chr9:132910581 [GRCh38]
Chr9:135785968 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256478]|Tuberous sclerosis 1 [RCV000698168] Chr9:132897550 [GRCh38]
Chr9:135772937 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3		 pathogenic
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000701703] Chr9:132905707 [GRCh38]
Chr9:135781094 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.265A>G (p.Ile89Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163117]|Tuberous sclerosis 1 [RCV000687625] Chr9:132925685 [GRCh38]
Chr9:135801072 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.826T>C (p.Ser276Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000688164]|not provided [RCV000999260] Chr9:132912369 [GRCh38]
Chr9:135787756 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163122]|Tuberous sclerosis 1 [RCV000688515] Chr9:132896549 [GRCh38]
Chr9:135771936 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406548]|Isolated focal cortical dysplasia type II [RCV003472193]|Tuberous sclerosis 1 [RCV000688599] Chr9:132905770 [GRCh38]
Chr9:135781157 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002316001]|Tuberous sclerosis 1 [RCV000699377] Chr9:132902635 [GRCh38]
Chr9:135778022 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1407AGA[1] (p.Glu470del) microsatellite Tuberous sclerosis 1 [RCV000699811] Chr9:132906757..132906759 [GRCh38]
Chr9:135782144..135782146 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257943]|Tuberous sclerosis 1 [RCV000699455] Chr9:132910644 [GRCh38]
Chr9:135786031 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386164]|Tuberous sclerosis 1 [RCV000685757] Chr9:132906829 [GRCh38]
Chr9:135782216 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1541G>A (p.Gly514Asp) single nucleotide variant Lymphangiomyomatosis [RCV002493222]|Tuberous sclerosis 1 [RCV000700189] Chr9:132906037 [GRCh38]
Chr9:135781424 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388196]|Tuberous sclerosis 1 [RCV000686119] Chr9:132906754 [GRCh38]
Chr9:135782141 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018321]|Tuberous sclerosis 1 [RCV000685830] Chr9:132912317 [GRCh38]
Chr9:135787704 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019978]|Tuberous sclerosis 1 [RCV001085615]|not provided [RCV000828016] Chr9:132925619 [GRCh38]
Chr9:135801006 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163105]|Tuberous sclerosis 1 [RCV000686080] Chr9:132921859 [GRCh38]
Chr9:135797246 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.86_90dup (p.Glu31fs) duplication Tuberous sclerosis 1 [RCV000689807] Chr9:132928782..132928783 [GRCh38]
Chr9:135804169..135804170 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020100]|Tuberous sclerosis 1 [RCV000692725] Chr9:132896366 [GRCh38]
Chr9:135771753 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.988_989insGA (p.Leu330fs) insertion Tuberous sclerosis 1 [RCV000687172] Chr9:132911493..132911494 [GRCh38]
Chr9:135786880..135786881 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440461]|Tuberous sclerosis 1 [RCV000692962]|not provided [RCV003238182] Chr9:132896720 [GRCh38]
Chr9:135772107 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388314]|Tuberous sclerosis 1 [RCV000701629] Chr9:132906109 [GRCh38]
Chr9:135781496 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422504]|Tuberous sclerosis 1 [RCV000692996] Chr9:132903803 [GRCh38]
Chr9:135779190 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386204]|Isolated focal cortical dysplasia type II [RCV003459692]|Tuberous sclerosis 1 [RCV000693071] Chr9:132907343 [GRCh38]
Chr9:135782730 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.903G>C (p.Gln301His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303179]|Tuberous sclerosis 1 [RCV000701891] Chr9:132912292 [GRCh38]
Chr9:135787679 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.737+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386267]|Tuberous sclerosis 1 [RCV000704624] Chr9:132921361 [GRCh38]
Chr9:135796748 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1562C>G (p.Ser521Trp) single nucleotide variant Tuberous sclerosis 1 [RCV000695085] Chr9:132906016 [GRCh38]
Chr9:135781403 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1232T>A (p.Leu411His) single nucleotide variant Tuberous sclerosis 1 [RCV000687786] Chr9:132910602 [GRCh38]
Chr9:135785989 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334264]|Tuberous sclerosis 1 [RCV000687802]|not provided [RCV002510955] Chr9:132921968 [GRCh38]
Chr9:135797355 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009779]|Tuberous sclerosis 1 [RCV000701952] Chr9:132911102 [GRCh38]
Chr9:135786489 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1039T>C (p.Trp347Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000707613] Chr9:132911104 [GRCh38]
Chr9:135786491 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV000702420] Chr9:132912458 [GRCh38]
Chr9:135787845 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372807]|Tuberous sclerosis 1 [RCV000688208] Chr9:132896730 [GRCh38]
Chr9:135772117 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.(?_132896215)_(132904474_?)del deletion Tuberous sclerosis 1 [RCV000707808] Chr9:132896215..132904474 [GRCh38]
Chr9:135771602..135779861 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015606]|Isolated focal cortical dysplasia type II [RCV001167132]|Tuberous sclerosis 1 [RCV000705362] Chr9:132901632 [GRCh38]
Chr9:135777019 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val) single nucleotide variant Tuberous sclerosis 1 [RCV000693923] Chr9:132902757 [GRCh38]
Chr9:135778144 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+367A>G single nucleotide variant Tuberous sclerosis 1 [RCV000705549]|not provided [RCV001726314] Chr9:132900348 [GRCh38]
Chr9:135775735 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs) insertion Tuberous sclerosis 1 [RCV000691650] Chr9:132903753..132903754 [GRCh38]
Chr9:135779140..135779141 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018760]|Tuberous sclerosis 1 [RCV000684976]|not provided [RCV001675952] Chr9:132896597 [GRCh38]
Chr9:135771984 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.211-3C>T single nucleotide variant Tuberous sclerosis 1 [RCV000697715] Chr9:132925742 [GRCh38]
Chr9:135801129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016888]|Tuberous sclerosis 1 [RCV000689051] Chr9:132897269 [GRCh38]
Chr9:135772656 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2519C>T (p.Ser840Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000691792] Chr9:132900821 [GRCh38]
Chr9:135776208 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014066]|Tuberous sclerosis 1 [RCV000705976] Chr9:132904434 [GRCh38]
Chr9:135779821 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala) single nucleotide variant Tuberous sclerosis 1 [RCV000694246] Chr9:132897606 [GRCh38]
Chr9:135772993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.997_998del (p.Pro333fs) deletion Tuberous sclerosis 1 [RCV000685190] Chr9:132911484..132911485 [GRCh38]
Chr9:135786871..135786872 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000689537] Chr9:132896422 [GRCh38]
Chr9:135771809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442534]|Tuberous sclerosis 1 [RCV000706334]|not provided [RCV003424301] Chr9:132911544 [GRCh38]
Chr9:135786931 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val) single nucleotide variant Tuberous sclerosis 1 [RCV000692320] Chr9:132903676 [GRCh38]
Chr9:135779063 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000701020] Chr9:132897550 [GRCh38]
Chr9:135772937 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1430AAG[2] (p.Glu479del) microsatellite Tuberous sclerosis 1 [RCV000703887] Chr9:132906731..132906733 [GRCh38]
Chr9:135782118..135782120 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2145G>C (p.Arg715=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424608]|Tuberous sclerosis 1 [RCV000689742] Chr9:132903714 [GRCh38]
Chr9:135779101 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256467]|Tuberous sclerosis 1 [RCV000689795] Chr9:132905987 [GRCh38]
Chr9:135781374 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.11:g.(?_135804148)_(135804265_?)dup duplication Tuberous sclerosis 1 [RCV000708499] Chr9:132928761..132928878 [GRCh38]
Chr9:135804148..135804265 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter) single nucleotide variant not provided [RCV000713910] Chr9:132921821 [GRCh38]
Chr9:135797208 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.759T>A (p.His253Gln) single nucleotide variant Tuberous sclerosis 1 [RCV000706432] Chr9:132912436 [GRCh38]
Chr9:135787823 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442537]|Tuberous sclerosis 1 [RCV000706620] Chr9:132912324 [GRCh38]
Chr9:135787711 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1541_1549delinsTG (p.Gly514fs) indel Tuberous sclerosis 1 [RCV000687521] Chr9:132906029..132906037 [GRCh38]
Chr9:135781416..135781424 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000704025] Chr9:132897525 [GRCh38]
Chr9:135772912 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002311991]|Tuberous sclerosis 1 [RCV000704242] Chr9:132902616 [GRCh38]
Chr9:135778003 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163141]|Tuberous sclerosis 1 [RCV000690055] Chr9:132896515 [GRCh38]
Chr9:135771902 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.974A>G (p.Gln325Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000690061] Chr9:132911508 [GRCh38]
Chr9:135786895 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440549]|Tuberous sclerosis 1 [RCV000707002] Chr9:132897344 [GRCh38]
Chr9:135772731 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000704325] Chr9:132905639 [GRCh38]
Chr9:135781026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) single nucleotide variant Tuberous sclerosis 1 [RCV000690186] Chr9:132902639 [GRCh38]
Chr9:135778026 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440530]|Tuberous sclerosis 1 [RCV000704425] Chr9:132911022 [GRCh38]
Chr9:135786409 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424655]|Tuberous sclerosis 1 [RCV000695276] Chr9:132901704 [GRCh38]
Chr9:135777091 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp) single nucleotide variant Tuberous sclerosis 1 [RCV000690496]|not provided [RCV001724140] Chr9:132903716 [GRCh38]
Chr9:135779103 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424599]|Tuberous sclerosis 1 [RCV000688397] Chr9:132897559 [GRCh38]
Chr9:135772946 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2700G>C (p.Gln900His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016354]|Tuberous sclerosis 1 [RCV000707540] Chr9:132897536 [GRCh38]
Chr9:135772923 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) deletion Tuberous sclerosis 1 [RCV000693555]|not provided [RCV003327449] Chr9:132907355..132907357 [GRCh38]
Chr9:135782742..135782744 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458242]|Isolated focal cortical dysplasia type II [RCV003472211]|Tuberous sclerosis 1 [RCV000693569] Chr9:132902697 [GRCh38]
Chr9:135778084 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1453G>T (p.Glu485Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000693592] Chr9:132906125 [GRCh38]
Chr9:135781512 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424643]|Tuberous sclerosis 1 [RCV000693606] Chr9:132925684 [GRCh38]
Chr9:135801071 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.523G>T (p.Val175Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334306]|Tuberous sclerosis 1 [RCV000693771] Chr9:132921959 [GRCh38]
Chr9:135797346 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397422]|Tuberous sclerosis 1 [RCV000695932] Chr9:132905834 [GRCh38]
Chr9:135781221 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1263+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442469]|Isolated focal cortical dysplasia type II [RCV003460943]|Tuberous sclerosis 1 [RCV000696018] Chr9:132910566 [GRCh38]
Chr9:135785953 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.188C>T (p.Thr63Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000696154] Chr9:132927223 [GRCh38]
Chr9:135802610 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.671T>A (p.Met224Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000703163] Chr9:132921429 [GRCh38]
Chr9:135796816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.23G>T (p.Gly8Val) single nucleotide variant Tuberous sclerosis 1 [RCV000703291] Chr9:132928850 [GRCh38]
Chr9:135804237 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.602C>T (p.Ser201Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000705372] Chr9:132921880 [GRCh38]
Chr9:135797267 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771612)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV000707944] Chr9:132896225..132945143 [GRCh38]
Chr9:135771612..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135776102)_(135787844_?)dup duplication Tuberous sclerosis 1 [RCV000707975] Chr9:132900715..132912457 [GRCh38]
Chr9:135776102..135787844 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs) deletion Tuberous sclerosis 1 [RCV000694011] Chr9:132900774..132900795 [GRCh38]
Chr9:135776161..135776182 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del) microsatellite Tuberous sclerosis 1 [RCV000696301] Chr9:132897216..132897218 [GRCh38]
Chr9:135772603..135772605 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325390]|Tuberous sclerosis 1 [RCV000694102] Chr9:132896549 [GRCh38]
Chr9:135771936 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388269]|Tuberous sclerosis 1 [RCV000696454] Chr9:132906754 [GRCh38]
Chr9:135782141 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1896del (p.Gly633fs) deletion Tuberous sclerosis 1 [RCV000699891] Chr9:132905682 [GRCh38]
Chr9:135781069 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163204]|TSC1-related condition [RCV003892553]|Tuberous sclerosis 1 [RCV000696695]|not provided [RCV003235358] Chr9:132911551 [GRCh38]
Chr9:135786938 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442499]|Lymphangiomyomatosis [RCV002499255]|Tuberous sclerosis 1 [RCV000700784] Chr9:132902637 [GRCh38]
Chr9:135778024 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu) single nucleotide variant Tuberous sclerosis 1 [RCV000696825] Chr9:132897481 [GRCh38]
Chr9:135772868 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319559]|Tuberous sclerosis 1 [RCV000697123] Chr9:132896654 [GRCh38]
Chr9:135772041 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000689532] Chr9:132901603 [GRCh38]
Chr9:135776990 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.172T>C (p.Leu58=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002317512]|Tuberous sclerosis 1 [RCV002060940] Chr9:132927239 [GRCh38]
Chr9:135802626 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3234G>A (p.Val1078=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002318205] Chr9:132896496 [GRCh38]
Chr9:135771883 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002317473]|Tuberous sclerosis 1 [RCV001364372] Chr9:132905899 [GRCh38]
Chr9:135781286 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002317534]|Tuberous sclerosis 1 [RCV003117521] Chr9:132911020 [GRCh38]
Chr9:135786407 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13(chr9:135668021-135804259)x1 copy number loss not provided [RCV001532189] Chr9:135668021..135804259 [GRCh37]
Chr9:9q34.13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.914-59_914-58del deletion not provided [RCV001691682] Chr9:132911626..132911627 [GRCh38]
Chr9:135787013..135787014 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2574C>A (p.Val858=) single nucleotide variant Tuberous sclerosis 1 [RCV001408721] Chr9:132900766 [GRCh38]
Chr9:135776153 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.828T>A (p.Ser276=) single nucleotide variant Tuberous sclerosis 1 [RCV001419844] Chr9:132912367 [GRCh38]
Chr9:135787754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu) single nucleotide variant Neuroblastoma [RCV000761064] Chr9:132901603 [GRCh38]
Chr9:135776990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) single nucleotide variant Acute myeloid leukemia [RCV000761141]|Hereditary cancer-predisposing syndrome [RCV002458369]|Tuberous sclerosis 1 [RCV001349883] Chr9:132896291 [GRCh38]
Chr9:135771678 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001028066]|not provided [RCV000760325] Chr9:132897610 [GRCh38]
Chr9:135772997 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001855927]|not provided [RCV000760541] Chr9:132902658 [GRCh38]
Chr9:135778045 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.211-11T>C single nucleotide variant Tuberous sclerosis 1 [RCV002072216]|not provided [RCV001571259] Chr9:132925750 [GRCh38]
Chr9:135801137 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs) microsatellite Tuberous sclerosis 1 [RCV000988276] Chr9:132906062..132906063 [GRCh38]
Chr9:135781449..135781450 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379529]|Tuberous sclerosis 1 [RCV001046702] Chr9:132907345 [GRCh38]
Chr9:135782732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.111del (p.Gly38fs) deletion not provided [RCV001090694] Chr9:132927300 [GRCh38]
Chr9:135802687 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1333+187A>G single nucleotide variant not provided [RCV001577168] Chr9:132907114 [GRCh38]
Chr9:135782501 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1009C>T (p.Leu337=) single nucleotide variant Tuberous sclerosis 1 [RCV001066485] Chr9:132911473 [GRCh38]
Chr9:135786860 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NC_000009.12:g.(?_132927181)_(132927324_?)del deletion Tuberous sclerosis 1 [RCV001031274] Chr9:135802568..135802711 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135771850)_(137038881_?)dup duplication Tuberous sclerosis 1 [RCV001033564] Chr9:135771850..137038881 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.1030-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372979]|Tuberous sclerosis 1 [RCV001066739] Chr9:132911116 [GRCh38]
Chr9:135786503 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-184T>C single nucleotide variant not provided [RCV001552131] Chr9:132907554 [GRCh38]
Chr9:135782941 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.12:g.132944745G>T single nucleotide variant not provided [RCV001680788] Chr9:132944745 [GRCh38]
Chr9:135820132 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379604]|Isolated focal cortical dysplasia type II [RCV003462604]|Tuberous sclerosis 1 [RCV001067609] Chr9:132928776 [GRCh38]
Chr9:135804163 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3272A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166681]|Tuberous sclerosis 1 [RCV001166682] Chr9:132892963 [GRCh38]
Chr9:135768350 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001706864] Chr9:132900838 [GRCh38]
Chr9:135776225 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.261A>G (p.Leu87=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV001167325]|Tuberous sclerosis 1 [RCV001167326] Chr9:132925689 [GRCh38]
Chr9:135801076 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1045C>T (p.Pro349Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001045479] Chr9:132911098 [GRCh38]
Chr9:135786485 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1808_1811dup (p.Asp605fs) duplication not provided [RCV001568680] Chr9:132905766..132905767 [GRCh38]
Chr9:135781153..135781154 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2293C>G (p.Gln765Glu) single nucleotide variant not provided [RCV000999258] Chr9:132902703 [GRCh38]
Chr9:135778090 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1215G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166415]|Tuberous sclerosis 1 [RCV001166416] Chr9:132895020 [GRCh38]
Chr9:135770407 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256582]|Tuberous sclerosis 1 [RCV000883160] Chr9:132896661 [GRCh38]
Chr9:135772048 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.183G>A (p.Leu61=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409199]|Tuberous sclerosis 1 [RCV001416667] Chr9:132927228 [GRCh38]
Chr9:135802615 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.542A>G (p.His181Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346037]|Tuberous sclerosis 1 [RCV000877417] Chr9:132921940 [GRCh38]
Chr9:135797327 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.920C>T (p.Ala307Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372704]|Tuberous sclerosis 1 [RCV000983929] Chr9:132911562 [GRCh38]
Chr9:135786949 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.180C>A (p.Ile60=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372925]|Tuberous sclerosis 1 [RCV001432850] Chr9:132927231 [GRCh38]
Chr9:135802618 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.300G>A (p.Gln100=) single nucleotide variant Tuberous sclerosis 1 [RCV001394937] Chr9:132925650 [GRCh38]
Chr9:135801037 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1236C>T (p.Pro412=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307751]|Tuberous sclerosis 1 [RCV001460923] Chr9:132910598 [GRCh38]
Chr9:135785985 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1908G>A (p.Glu636=) single nucleotide variant Tuberous sclerosis 1 [RCV001447088] Chr9:132905670 [GRCh38]
Chr9:135781057 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+7A>G single nucleotide variant Lymphangiomyomatosis [RCV002478978]|Tuberous sclerosis 1 [RCV000870411] Chr9:132903644 [GRCh38]
Chr9:135779031 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=) single nucleotide variant Tuberous sclerosis 1 [RCV001491079] Chr9:132896589 [GRCh38]
Chr9:135771976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+7T>G single nucleotide variant Tuberous sclerosis 1 [RCV001450246] Chr9:132907294 [GRCh38]
Chr9:135782681 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1635T>C (p.Pro545=) single nucleotide variant Tuberous sclerosis 1 [RCV001412656] Chr9:132905943 [GRCh38]
Chr9:135781330 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2808G>A (p.Gln936=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434296]|Tuberous sclerosis 1 [RCV001439972] Chr9:132897428 [GRCh38]
Chr9:135772815 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1860C>T (p.Val620=) single nucleotide variant Tuberous sclerosis 1 [RCV000983302] Chr9:132905718 [GRCh38]
Chr9:135781105 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1413T>C (p.Asp471=) single nucleotide variant Tuberous sclerosis 1 [RCV001426183] Chr9:132906756 [GRCh38]
Chr9:135782143 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+10A>G single nucleotide variant Tuberous sclerosis 1 [RCV000902015] Chr9:132910561 [GRCh38]
Chr9:135785948 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1737T>C (p.Ser579=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400034]|Tuberous sclerosis 1 [RCV001504151] Chr9:132905841 [GRCh38]
Chr9:135781228 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2010C>T (p.Pro670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416115]|Tuberous sclerosis 1 [RCV000904598] Chr9:132904442 [GRCh38]
Chr9:135779829 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1290A>G (p.Pro430=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258074]|Tuberous sclerosis 1 [RCV000976257] Chr9:132907344 [GRCh38]
Chr9:135782731 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320193]|Tuberous sclerosis 1 [RCV000982861] Chr9:132896598 [GRCh38]
Chr9:135771985 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) single nucleotide variant Tuberous sclerosis 1 [RCV001418891] Chr9:132905769 [GRCh38]
Chr9:135781156 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.939C>T (p.Ser313=) single nucleotide variant not provided [RCV000943926] Chr9:132911543 [GRCh38]
Chr9:135786930 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-8T>C single nucleotide variant Tuberous sclerosis 1 [RCV000926972] Chr9:132897618 [GRCh38]
Chr9:135773005 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2910G>A (p.Glu970=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434308]|Tuberous sclerosis 1 [RCV001482309] Chr9:132897249 [GRCh38]
Chr9:135772636 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.915G>T (p.Gly305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018933]|Lymphangiomyomatosis [RCV002501392]|Tuberous sclerosis 1 [RCV000882162] Chr9:132911567 [GRCh38]
Chr9:135786954 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.711C>T (p.Ser237=) single nucleotide variant Tuberous sclerosis 1 [RCV000942372] Chr9:132921389 [GRCh38]
Chr9:135796776 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2220G>A (p.Leu740=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427288]|Tuberous sclerosis 1 [RCV001405552] Chr9:132902776 [GRCh38]
Chr9:135778163 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2022C>G (p.Val674=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014124]|Tuberous sclerosis 1 [RCV000863860] Chr9:132904430 [GRCh38]
Chr9:135779817 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1716C>T (p.Cys572=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169445]|Tuberous sclerosis 1 [RCV000944737]|not provided [RCV003432942] Chr9:132905862 [GRCh38]
Chr9:135781249 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001036693] Chr9:132902743 [GRCh38]
Chr9:135778130 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.4(TSC1):c.2006_2007insTTTAGGTTGCCTTT insertion Tuberous sclerosis 1 [RCV001051025] Chr9:132904445..132904446 [GRCh38]
Chr9:135779832..135779833 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.693G>A (p.Pro231=) single nucleotide variant Tuberous sclerosis 1 [RCV001061056] Chr9:132921407 [GRCh38]
Chr9:135796794 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2730G>A (p.Leu910=) single nucleotide variant Tuberous sclerosis 1 [RCV001061256] Chr9:132897506 [GRCh38]
Chr9:135772893 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427478]|Tuberous sclerosis 1 [RCV001034997] Chr9:132897556 [GRCh38]
Chr9:135772943 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val) single nucleotide variant Tuberous sclerosis 1 [RCV001049309] Chr9:132903721 [GRCh38]
Chr9:135779108 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001062096]|not provided [RCV002253766] Chr9:132901678 [GRCh38]
Chr9:135777065 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001062113]|not provided [RCV003128745] Chr9:132896530 [GRCh38]
Chr9:135771917 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001055774] Chr9:132897264 [GRCh38]
Chr9:135772651 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.761A>G (p.Asp254Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001061591] Chr9:132912434 [GRCh38]
Chr9:135787821 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307930]|Tuberous sclerosis 1 [RCV001069395] Chr9:132912389 [GRCh38]
Chr9:135787776 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NC_000009.12:g.(?_132921343)_(132921993_?)del deletion Tuberous sclerosis 1 [RCV001033273] Chr9:135796730..135797380 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1703_1705del (p.Gly568del) deletion Tuberous sclerosis 1 [RCV001055987] Chr9:132905873..132905875 [GRCh38]
Chr9:135781260..135781262 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.125T>A (p.Val42Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001043370] Chr9:132927286 [GRCh38]
Chr9:135802673 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001061820] Chr9:132902696 [GRCh38]
Chr9:135778083 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320347]|Tuberous sclerosis 1 [RCV001069522] Chr9:132896615 [GRCh38]
Chr9:135772002 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1286G>C (p.Arg429Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001049556] Chr9:132907348 [GRCh38]
Chr9:135782735 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160455]|Tuberous sclerosis 1 [RCV001056513] Chr9:132896260 [GRCh38]
Chr9:135771647 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.304T>A (p.Ser102Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001047969] Chr9:132925646 [GRCh38]
Chr9:135801033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001047996] Chr9:132897483 [GRCh38]
Chr9:135772870 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2813+2T>G single nucleotide variant Tuberous sclerosis 1 [RCV001048055] Chr9:132897421 [GRCh38]
Chr9:135772808 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) single nucleotide variant Lymphangiomyomatosis [RCV002481860]|Tuberous sclerosis 1 [RCV001037895]|not provided [RCV001819743] Chr9:132905590 [GRCh38]
Chr9:135780977 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001042431] Chr9:132900750 [GRCh38]
Chr9:135776137 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.740G>A (p.Trp247Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001052243] Chr9:132912455 [GRCh38]
Chr9:135787842 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.363+5_363+8del deletion Tuberous sclerosis 1 [RCV001042636] Chr9:132925579..132925582 [GRCh38]
Chr9:135800966..135800969 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001059526]|not specified [RCV002307670] Chr9:132905861 [GRCh38]
Chr9:135781248 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser) single nucleotide variant Lymphangiomyomatosis [RCV002505623]|Tuberous sclerosis 1 [RCV001059540] Chr9:132897318 [GRCh38]
Chr9:135772705 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001057124]|not provided [RCV002291715] Chr9:132897596 [GRCh38]
Chr9:135772983 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160480]|Tuberous sclerosis 1 [RCV001059625] Chr9:132912312 [GRCh38]
Chr9:135787699 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.298C>T (p.Gln100Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001038098] Chr9:132925652 [GRCh38]
Chr9:135801039 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374946]|Tuberous sclerosis 1 [RCV001059923] Chr9:132912315 [GRCh38]
Chr9:135787702 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val) single nucleotide variant Tuberous sclerosis 1 [RCV001048611] Chr9:132896320 [GRCh38]
Chr9:135771707 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.360_361insSVAelement insertion Tuberous sclerosis 1 [RCV001089785] Chr9:132925589..132925590 [GRCh38]
Chr9:135800976..135800977 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445314]|Tuberous sclerosis 1 [RCV001060125] Chr9:132896455 [GRCh38]
Chr9:135771842 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001060516] Chr9:132896669 [GRCh38]
Chr9:135772056 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393262]|TSC1-related condition [RCV003973037]|Tuberous sclerosis 1 [RCV001052119] Chr9:132910590 [GRCh38]
Chr9:135785977 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1439-7C>A single nucleotide variant Tuberous sclerosis 1 [RCV001052142] Chr9:132906146 [GRCh38]
Chr9:135781533 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001060615]|not provided [RCV001772280] Chr9:132900733 [GRCh38]
Chr9:135776120 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429663]|Tuberous sclerosis 1 [RCV001054576] Chr9:132901586 [GRCh38]
Chr9:135776973 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1299C>G (p.His433Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001057703] Chr9:132907335 [GRCh38]
Chr9:135782722 [GRCh37]
Chr9:9q34.13		 uncertain significance
Single allele tandem duplication Hereditary cancer-predisposing syndrome [RCV000850068] Chr9:135803191..135807261 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000807651]|not provided [RCV003442093] Chr9:132928863 [GRCh38]
Chr9:135804250 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406805]|Tuberous sclerosis 1 [RCV000807814] Chr9:132905770 [GRCh38]
Chr9:135781157 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020297]|Tuberous sclerosis 1 [RCV000792073] Chr9:132896297 [GRCh38]
Chr9:135771684 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.508+1G>T single nucleotide variant not provided [RCV000786842] Chr9:132923347 [GRCh38]
Chr9:135798734 [GRCh37]
Chr9:9q34.13		 not provided
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001856202]|not specified [RCV000781917] Chr9:132896401 [GRCh38]
Chr9:135771788 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.210+290T>C single nucleotide variant not provided [RCV000827681] Chr9:132926911 [GRCh38]
Chr9:135802298 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.329C>T (p.Ala110Val) single nucleotide variant Tuberous sclerosis 1 [RCV000793286] Chr9:132925621 [GRCh38]
Chr9:135801008 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017377]|Tuberous sclerosis 1 [RCV000862772] Chr9:132911027 [GRCh38]
Chr9:135786414 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399971]|Tuberous sclerosis 1 [RCV000878275] Chr9:132906004 [GRCh38]
Chr9:135781391 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1407A>G (p.Glu469=) single nucleotide variant Tuberous sclerosis 1 [RCV001494870] Chr9:132906762 [GRCh38]
Chr9:135782149 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3279A>G (p.Arg1093=) single nucleotide variant Tuberous sclerosis 1 [RCV001410042] Chr9:132896451 [GRCh38]
Chr9:135771838 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2364A>G (p.Glu788=) single nucleotide variant TSC1-related condition [RCV003925807]|Tuberous sclerosis 1 [RCV001401983] Chr9:132902632 [GRCh38]
Chr9:135778019 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.988C>T (p.Leu330=) single nucleotide variant Tuberous sclerosis 1 [RCV001442718] Chr9:132911494 [GRCh38]
Chr9:135786881 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399867]|Tuberous sclerosis 1 [RCV000862965] Chr9:132905988 [GRCh38]
Chr9:135781375 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.702G>A (p.Val234=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363395]|Tuberous sclerosis 1 [RCV000931018] Chr9:132921398 [GRCh38]
Chr9:135796785 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-8T>C single nucleotide variant Tuberous sclerosis 1 [RCV003505151] Chr9:132901707 [GRCh38]
Chr9:135777094 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2145G>T (p.Arg715=) single nucleotide variant Tuberous sclerosis 1 [RCV000940293] Chr9:132903714 [GRCh38]
Chr9:135779101 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.540C>G (p.Leu180=) single nucleotide variant Tuberous sclerosis 1 [RCV001410918] Chr9:132921942 [GRCh38]
Chr9:135797329 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445097]|Tuberous sclerosis 1 [RCV000945880]|not provided [RCV003886457] Chr9:132901670 [GRCh38]
Chr9:135777057 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307777]|Tuberous sclerosis 1 [RCV001398494] Chr9:132896298 [GRCh38]
Chr9:135771685 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399935]|Isolated focal cortical dysplasia type II [RCV003473525]|Tuberous sclerosis 1 [RCV000871624]|not provided [RCV001766779] Chr9:132906029 [GRCh38]
Chr9:135781416 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.876C>G (p.Val292=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372565]|Tuberous sclerosis 1 [RCV001459568] Chr9:132912319 [GRCh38]
Chr9:135787706 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+8C>A single nucleotide variant Tuberous sclerosis 1 [RCV001403323] Chr9:132897176 [GRCh38]
Chr9:135772563 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409296]|Tuberous sclerosis 1 [RCV000978335]|not specified [RCV002265916] Chr9:132911084 [GRCh38]
Chr9:135786471 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.867A>G (p.Ser289=) single nucleotide variant Tuberous sclerosis 1 [RCV002544442] Chr9:132912328 [GRCh38]
Chr9:135787715 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+8A>G single nucleotide variant Tuberous sclerosis 1 [RCV000940894] Chr9:132906723 [GRCh38]
Chr9:135782110 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-9del deletion Tuberous sclerosis 1 [RCV000869428] Chr9:132921982 [GRCh38]
Chr9:135797369 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.12A>G (p.Gln4=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010845]|Tuberous sclerosis 1 [RCV001490160] Chr9:132928861 [GRCh38]
Chr9:135804248 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) single nucleotide variant Tuberous sclerosis 1 [RCV000904542] Chr9:132901613 [GRCh38]
Chr9:135777000 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=) single nucleotide variant Tuberous sclerosis 1 [RCV001413491] Chr9:132896706 [GRCh38]
Chr9:135772093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434098]|Isolated focal cortical dysplasia type II [RCV001169543]|Tuberous sclerosis 1 [RCV000867669] Chr9:132896736 [GRCh38]
Chr9:135772123 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.914-7A>G single nucleotide variant Tuberous sclerosis 1 [RCV001400132] Chr9:132911575 [GRCh38]
Chr9:135786962 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1809G>T (p.Pro603=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013261]|Tuberous sclerosis 1 [RCV000918942] Chr9:132905769 [GRCh38]
Chr9:135781156 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.913+9T>C single nucleotide variant Tuberous sclerosis 1 [RCV000875899] Chr9:132912273 [GRCh38]
Chr9:135787660 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.576T>C (p.Tyr192=) single nucleotide variant Tuberous sclerosis 1 [RCV001482320] Chr9:132921906 [GRCh38]
Chr9:135797293 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3066G>A (p.Arg1022=) single nucleotide variant Tuberous sclerosis 1 [RCV001444973] Chr9:132896664 [GRCh38]
Chr9:135772051 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2628A>G (p.Glu876=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427414]|Tuberous sclerosis 1 [RCV001493156] Chr9:132897608 [GRCh38]
Chr9:135772995 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1264-6T>C single nucleotide variant Tuberous sclerosis 1 [RCV001397154] Chr9:132907376 [GRCh38]
Chr9:135782763 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-4C>T single nucleotide variant Tuberous sclerosis 1 [RCV001481267] Chr9:132904458 [GRCh38]
Chr9:135779845 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399908]|Isolated focal cortical dysplasia type II [RCV001167199]|Tuberous sclerosis 1 [RCV000868067] Chr9:132905844 [GRCh38]
Chr9:135781231 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372451]|Tuberous sclerosis 1 [RCV000869411] Chr9:132910601 [GRCh38]
Chr9:135785988 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2556G>T (p.Leu852=) single nucleotide variant Tuberous sclerosis 1 [RCV000930147] Chr9:132900784 [GRCh38]
Chr9:135776171 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372927]|Tuberous sclerosis 1 [RCV000978911] Chr9:132911477 [GRCh38]
Chr9:135786864 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-4T>A single nucleotide variant Tuberous sclerosis 1 [RCV001460008] Chr9:132897614 [GRCh38]
Chr9:135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2181A>G (p.Ala727=) single nucleotide variant Tuberous sclerosis 1 [RCV001428342] Chr9:132903678 [GRCh38]
Chr9:135779065 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3303G>C (p.Glu1101Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019818] Chr9:132896427 [GRCh38]
Chr9:135771814 [GRCh37]
Chr9:9q34.13		 uncertain significance
t(8;9)(q24.22;q34.13) translocation Neoplasm of the pancreas [RCV002245642] Chr9:135791198..135791199 [GRCh37]
Chr8:133731583..133731584 [GRCh37]
Chr8:8q24.22
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1334-174T>C single nucleotide variant not provided [RCV000837379] Chr9:132907009 [GRCh38]
Chr9:135782396 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169034]|Tuberous sclerosis 1 [RCV000822480] Chr9:132925594 [GRCh38]
Chr9:135800981 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.580A>C (p.Met194Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000822580] Chr9:132921902 [GRCh38]
Chr9:135797289 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.132904406del deletion not provided [RCV000840989] Chr9:9q34.13 likely benign
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) insertion Tuberous sclerosis 1 [RCV000797289]|not provided [RCV003332252] Chr9:132896600..132896601 [GRCh38]
Chr9:135771987..135771988 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440765]|Tuberous sclerosis 1 [RCV000812840] Chr9:132897555 [GRCh38]
Chr9:135772942 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406816]|Tuberous sclerosis 1 [RCV000809501] Chr9:132905845 [GRCh38]
Chr9:135781232 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) single nucleotide variant Tuberous sclerosis 1 [RCV000793584] Chr9:132923461 [GRCh38]
Chr9:135798848 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2721del (p.Lys907fs) deletion Tuberous sclerosis 1 [RCV000815795] Chr9:132897515 [GRCh38]
Chr9:135772902 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319906]|Tuberous sclerosis 1 [RCV000820981] Chr9:132896624 [GRCh38]
Chr9:135772011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000855450] Chr9:132925718 [GRCh38]
Chr9:135801105 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.2626-9T>C single nucleotide variant Tuberous sclerosis 1 [RCV000977097] Chr9:132897619 [GRCh38]
Chr9:135773006 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.82G>C (p.Val28Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000797675] Chr9:132928791 [GRCh38]
Chr9:135804178 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406793]|Tuberous sclerosis 1 [RCV000804689] Chr9:132905734 [GRCh38]
Chr9:135781121 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453791]|Tuberous sclerosis 1 [RCV000804741] Chr9:132901660 [GRCh38]
Chr9:135777047 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015512]|Tuberous sclerosis 1 [RCV000823084]|not provided [RCV001568061]|not specified [RCV002235444] Chr9:132901659 [GRCh38]
Chr9:135777046 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.2472T>A (p.Thr824=) single nucleotide variant Tuberous sclerosis 1 [RCV000797846] Chr9:132901619 [GRCh38]
Chr9:135777006 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015305]|Tuberous sclerosis 1 [RCV000798316] Chr9:132902627 [GRCh38]
Chr9:135778014 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1613C>T (p.Ser538Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000816019] Chr9:132905965 [GRCh38]
Chr9:135781352 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363144]|Tuberous sclerosis 1 [RCV000819343] Chr9:132910597 [GRCh38]
Chr9:135785984 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.965_978del (p.Met322fs) deletion Tuberous sclerosis 1 [RCV000819397] Chr9:132911504..132911517 [GRCh38]
Chr9:135786891..135786904 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332259]|Tuberous sclerosis 1 [RCV000804841] Chr9:132906032 [GRCh38]
Chr9:135781419 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453808]|Tuberous sclerosis 1 [RCV000807044] Chr9:132896306 [GRCh38]
Chr9:135771693 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys) single nucleotide variant Tuberous sclerosis 1 [RCV000810507] Chr9:132903779 [GRCh38]
Chr9:135779166 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp) single nucleotide variant Tuberous sclerosis 1 [RCV000793677] Chr9:132896464 [GRCh38]
Chr9:135771851 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003461102]|Lymphangiomyomatosis [RCV002501062]|Tuberous sclerosis 1 [RCV000798422] Chr9:132905762 [GRCh38]
Chr9:135781149 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003467469]|Tuberous sclerosis 1 [RCV000813610] Chr9:132905773 [GRCh38]
Chr9:135781160 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003472365]|Tuberous sclerosis 1 [RCV000801259] Chr9:132896579 [GRCh38]
Chr9:135771966 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000821249] Chr9:132904431 [GRCh38]
Chr9:135779818 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135785948)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV000794814] Chr9:132910561..132945143 [GRCh38]
Chr9:135785948..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363122]|Isolated focal cortical dysplasia type II [RCV003461229]|Lymphangiomyomatosis [RCV002495148]|Tuberous sclerosis 1 [RCV000815042]|not provided [RCV003141835] Chr9:132928803 [GRCh38]
Chr9:135804190 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2502+2_2502+9del deletion Tuberous sclerosis 1 [RCV000797529] Chr9:132901580..132901587 [GRCh38]
Chr9:135776967..135776974 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.158G>A (p.Ser53Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000816230] Chr9:132927253 [GRCh38]
Chr9:135802640 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508+99T>C single nucleotide variant not provided [RCV000836177] Chr9:132923249 [GRCh38]
Chr9:135798636 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.734dup (p.Arg246fs) duplication Tuberous sclerosis 1 [RCV000794398] Chr9:132921365..132921366 [GRCh38]
Chr9:135796752..135796753 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1219G>T (p.Val407Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000816308] Chr9:132910615 [GRCh38]
Chr9:135786002 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325614]|Tuberous sclerosis 1 [RCV000819759]|not provided [RCV001759601] Chr9:132896425 [GRCh38]
Chr9:135771812 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.115C>G (p.Pro39Ala) single nucleotide variant Tuberous sclerosis 1 [RCV000807843] Chr9:132927296 [GRCh38]
Chr9:135802683 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422735]|Tuberous sclerosis 1 [RCV000799908] Chr9:132904420 [GRCh38]
Chr9:135779807 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.105T>C (p.Ser35=) single nucleotide variant Tuberous sclerosis 1 [RCV000816400] Chr9:132928768 [GRCh38]
Chr9:135804155 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.261dup (p.Ser88fs) duplication Tuberous sclerosis 1 [RCV000819765]|not provided [RCV001009004] Chr9:132925688..132925689 [GRCh38]
Chr9:135801075..135801076 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2161del (p.Arg721fs) deletion not provided [RCV000993361] Chr9:132903698 [GRCh38]
Chr9:135779085 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352483]|Tuberous sclerosis 1 [RCV001088874]|not provided [RCV000828745] Chr9:132910625 [GRCh38]
Chr9:135786012 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017290]|Tuberous sclerosis 1 [RCV000816480]|not provided [RCV003320759] Chr9:132927302 [GRCh38]
Chr9:135802689 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166187]|Tuberous sclerosis 1 [RCV000800082]|not provided [RCV003432768] Chr9:132906830 [GRCh38]
Chr9:135782217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs) duplication Lymphangiomyomatosis [RCV001292920]|Tuberous sclerosis 1 [RCV000803565] Chr9:132905855..132905856 [GRCh38]
Chr9:135781242..135781243 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.243C>T (p.Gly81=) single nucleotide variant Tuberous sclerosis 1 [RCV000821717] Chr9:132925707 [GRCh38]
Chr9:135801094 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1119_1123del (p.Tyr373_Lys375delinsTer) deletion Tuberous sclerosis 1 [RCV000824621] Chr9:132911020..132911024 [GRCh38]
Chr9:135786407..135786411 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.663+7T>C single nucleotide variant Tuberous sclerosis 1 [RCV001411824] Chr9:132921812 [GRCh38]
Chr9:135797199 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000795404] Chr9:132900734 [GRCh38]
Chr9:135776121 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2975+127G>T single nucleotide variant not provided [RCV000836800] Chr9:132897057 [GRCh38]
Chr9:135772444 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu) single nucleotide variant Tuberous sclerosis 1 [RCV000821895] Chr9:132902787 [GRCh38]
Chr9:135778174 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter) single nucleotide variant Tuberous sclerosis syndrome [RCV000826206] Chr9:132901645 [GRCh38]
Chr9:135777032 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.581T>C (p.Met194Thr) single nucleotide variant Tuberous sclerosis 1 [RCV000795922] Chr9:132921901 [GRCh38]
Chr9:135797288 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.880A>T (p.Thr294Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000791540] Chr9:132912315 [GRCh38]
Chr9:135787702 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000820251] Chr9:132896754 [GRCh38]
Chr9:135772141 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370159]|Lymphangiomyomatosis [RCV002487737]|Tuberous sclerosis 1 [RCV000808212]|not provided [RCV002291701] Chr9:132912311 [GRCh38]
Chr9:135787698 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352327]|Tuberous sclerosis 1 [RCV000795310]|not provided [RCV001572386] Chr9:132928812 [GRCh38]
Chr9:135804199 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1039T>A (p.Trp347Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000815349] Chr9:132911104 [GRCh38]
Chr9:135786491 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-9_2626-8insTG insertion Tuberous sclerosis 1 [RCV001431020] Chr9:132897618..132897619 [GRCh38]
Chr9:135773005..135773006 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1852C>G (p.His618Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406764]|Tuberous sclerosis 1 [RCV000799036] Chr9:132905726 [GRCh38]
Chr9:135781113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1263+106G>A single nucleotide variant not provided [RCV000835349] Chr9:132910465 [GRCh38]
Chr9:135785852 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442738]|Isolated focal cortical dysplasia type II [RCV003473496]|Tuberous sclerosis 1 [RCV000817104] Chr9:132911460 [GRCh38]
Chr9:135786847 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255527]|Tuberous sclerosis 1 [RCV000799145] Chr9:132905583 [GRCh38]
Chr9:135780970 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026819]|Tuberous sclerosis 1 [RCV000818816] Chr9:132912416 [GRCh38]
Chr9:135787803 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000820650] Chr9:132902754 [GRCh38]
Chr9:135778141 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.871_886dup (p.Pro296fs) duplication Tuberous sclerosis 1 [RCV000813392] Chr9:132912308..132912309 [GRCh38]
Chr9:135787695..135787696 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.4:c.2502+51A>G single nucleotide variant not provided [RCV000829954] Chr9:135776925 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406743]|Isolated focal cortical dysplasia type II [RCV003467348]|Tuberous sclerosis 1 [RCV000795454]|not provided [RCV001759502] Chr9:132905765 [GRCh38]
Chr9:135781152 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000812192] Chr9:132897345 [GRCh38]
Chr9:135772732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018065]|Tuberous sclerosis 1 [RCV000819678]|not provided [RCV001552544] Chr9:132896714 [GRCh38]
Chr9:135772101 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.383T>C (p.Val128Ala) single nucleotide variant Tuberous sclerosis 1 [RCV000816162] Chr9:132923473 [GRCh38]
Chr9:135798860 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319945]|Tuberous sclerosis 1 [RCV001088763]|not provided [RCV000834975] Chr9:132896481 [GRCh38]
Chr9:135771868 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397608]|Tuberous sclerosis 1 [RCV000800170] Chr9:132905950 [GRCh38]
Chr9:135781337 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307528]|Tuberous sclerosis 1 [RCV000816674] Chr9:132897460 [GRCh38]
Chr9:135772847 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser) single nucleotide variant Tuberous sclerosis 1 [RCV000800528] Chr9:132903743 [GRCh38]
Chr9:135779130 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424828]|Tuberous sclerosis 1 [RCV000796978]|not provided [RCV003327463] Chr9:132902694 [GRCh38]
Chr9:135778081 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.120G>A (p.Met40Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000804106] Chr9:132927291 [GRCh38]
Chr9:135802678 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257984]|Isolated focal cortical dysplasia type II [RCV001167131]|Tuberous sclerosis 1 [RCV000817447] Chr9:132897600 [GRCh38]
Chr9:135772987 [GRCh37]
Chr9:9q34.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del) microsatellite Lymphangiomyomatosis [RCV002507386]|Tuberous sclerosis 1 [RCV000801076] Chr9:132896601..132896609 [GRCh38]
Chr9:135771988..135771996 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+4T>G single nucleotide variant Tuberous sclerosis 1 [RCV000823414] Chr9:132900711 [GRCh38]
Chr9:135776098 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.271del (p.Ser91fs) deletion Tuberous sclerosis 1 [RCV000807632] Chr9:132925679 [GRCh38]
Chr9:135801066 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.116C>G (p.Pro39Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000817725] Chr9:132927295 [GRCh38]
Chr9:135802682 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.248C>T (p.Ala83Val) single nucleotide variant Tuberous sclerosis 1 [RCV000820865] Chr9:132925702 [GRCh38]
Chr9:135801089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397631]|Tuberous sclerosis 1 [RCV000804505] Chr9:132905872 [GRCh38]
Chr9:135781259 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166239]|Tuberous sclerosis 1 [RCV000804534] Chr9:132897295 [GRCh38]
Chr9:135772682 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs) duplication Tuberous sclerosis 1 [RCV000801733] Chr9:132897519..132897520 [GRCh38]
Chr9:135772906..135772907 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.4:c.210+33G>A single nucleotide variant not provided [RCV000832511] Chr9:135802555 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415932]|TSC1-related condition [RCV003413656]|Tuberous sclerosis 1 [RCV000821455] Chr9:132903743 [GRCh38]
Chr9:135779130 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1448C>T (p.Ser483Phe) single nucleotide variant Tuberous sclerosis 1 [RCV000805130] Chr9:132906130 [GRCh38]
Chr9:135781517 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390714]|TSC1-related condition [RCV003908111]|Tuberous sclerosis 1 [RCV000824318] Chr9:132906751 [GRCh38]
Chr9:135782138 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1757G>A (p.Cys586Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV000798191] Chr9:132905821 [GRCh38]
Chr9:135781208 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002424872]|Tuberous sclerosis 1 [RCV000805367] Chr9:132903698 [GRCh38]
Chr9:135779085 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1997+133A>G single nucleotide variant not provided [RCV000837066] Chr9:132905448 [GRCh38]
Chr9:135780835 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-5T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169029]|Tuberous sclerosis 1 [RCV000822081] Chr9:132897615 [GRCh38]
Chr9:135773002 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.555C>G (p.Tyr185Ter) single nucleotide variant Tuberous sclerosis 1 [RCV000809212] Chr9:132921927 [GRCh38]
Chr9:135797314 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.384_401del (p.Leu129_Leu134del) deletion Tuberous sclerosis 1 [RCV000822211] Chr9:132923455..132923472 [GRCh38]
Chr9:135798842..135798859 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+68G>A single nucleotide variant not provided [RCV000829852] Chr9:132900647 [GRCh38]
Chr9:135776034 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu) single nucleotide variant Tuberous sclerosis 1 [RCV000815344] Chr9:132896555 [GRCh38]
Chr9:135771942 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000802720] Chr9:132896569 [GRCh38]
Chr9:135771956 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-156G>A single nucleotide variant not provided [RCV000840963] Chr9:132944555 [GRCh38]
Chr9:135819942 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2946A>G (p.Lys982=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV001165536]|Tuberous sclerosis 1 [RCV001169545] Chr9:132897213 [GRCh38]
Chr9:135772600 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.368A>C (p.Asp123Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020885] Chr9:132923488 [GRCh38]
Chr9:135798875 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163364]|Isolated focal cortical dysplasia type II [RCV001165741]|Tuberous sclerosis 1 [RCV001165740]|not provided [RCV003142091] Chr9:132923387 [GRCh38]
Chr9:135798774 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771612)_(135778184_?)dup duplication Tuberous sclerosis 1 [RCV000807919] Chr9:132896225..132902797 [GRCh38]
Chr9:135771612..135778184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1828G>A (p.Val610Met) single nucleotide variant Tuberous sclerosis 1 [RCV001066903] Chr9:132905750 [GRCh38]
Chr9:135781137 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2354A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166296]|Tuberous sclerosis 1 [RCV001166297] Chr9:132893881 [GRCh38]
Chr9:135769268 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val) single nucleotide variant Tuberous sclerosis 1 [RCV001221179]|not provided [RCV000999256] Chr9:132896560 [GRCh38]
Chr9:135771947 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4492T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169024]|Tuberous sclerosis 1 [RCV001168291] Chr9:132891743 [GRCh38]
Chr9:135767130 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3170G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166683]|Tuberous sclerosis 1 [RCV001166684] Chr9:132893065 [GRCh38]
Chr9:135768452 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del) microsatellite Hereditary cancer-predisposing syndrome [RCV003166269]|Tuberous sclerosis 1 [RCV000808043] Chr9:132896601..132896606 [GRCh38]
Chr9:135771988..135771993 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2626-3_2626-2insT insertion Tuberous sclerosis 1 [RCV000988272] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.*1355C>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168584]|Tuberous sclerosis 1 [RCV001168585]|not provided [RCV003425974] Chr9:132894880 [GRCh38]
Chr9:135770267 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*4119T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166124]|Tuberous sclerosis 1 [RCV001166123] Chr9:132892116 [GRCh38]
Chr9:135767503 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.44_58del (p.Asp15_Leu19del) deletion Tuberous sclerosis 1 [RCV001043251] Chr9:132928815..132928829 [GRCh38]
Chr9:135804202..135804216 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030-5C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV003472334]|Tuberous sclerosis 1 [RCV000792019] Chr9:132911118 [GRCh38]
Chr9:135786505 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2814-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV000810834] Chr9:132897347 [GRCh38]
Chr9:135772734 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NC_000009.11:g.(?_135819930)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV000798830] Chr9:132944543..132945143 [GRCh38]
Chr9:135819930..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4538A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168287]|Tuberous sclerosis 1 [RCV001168288] Chr9:132891697 [GRCh38]
Chr9:135767084 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.993T>A (p.Ser331Arg) single nucleotide variant Tuberous sclerosis 1 [RCV000811337] Chr9:132911489 [GRCh38]
Chr9:135786876 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418541]|Tuberous sclerosis 1 [RCV001066072]|not provided [RCV003223697] Chr9:132904419 [GRCh38]
Chr9:135779806 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019566]|Isolated focal cortical dysplasia type II [RCV003472338]|Tuberous sclerosis 1 [RCV000793432] Chr9:132896456 [GRCh38]
Chr9:135771843 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363107]|Tuberous sclerosis 1 [RCV000812099] Chr9:132910615 [GRCh38]
Chr9:135786002 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.211-157G>A single nucleotide variant not provided [RCV000836338] Chr9:132925896 [GRCh38]
Chr9:135801283 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000804926] Chr9:132896642 [GRCh38]
Chr9:135772029 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+3A>G single nucleotide variant Tuberous sclerosis 1 [RCV000804980] Chr9:132925584 [GRCh38]
Chr9:135800971 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-6_2626-5insTC insertion Tuberous sclerosis 1 [RCV000942808] Chr9:132897615..132897616 [GRCh38]
Chr9:135773002..135773003 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del) deletion Hereditary cancer-predisposing syndrome [RCV002319582]|Tuberous sclerosis 1 [RCV000806425] Chr9:132896644..132896646 [GRCh38]
Chr9:135772031..135772033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs) deletion Tuberous sclerosis 1 [RCV000824442] Chr9:132902653..132902656 [GRCh38]
Chr9:135778040..135778043 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.106+6C>T single nucleotide variant Tuberous sclerosis 1 [RCV000812470] Chr9:132928761 [GRCh38]
Chr9:135804148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-6T>C single nucleotide variant Tuberous sclerosis 1 [RCV000815062] Chr9:132921442 [GRCh38]
Chr9:135796829 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2208+171A>G single nucleotide variant not provided [RCV000836791] Chr9:132903480 [GRCh38]
Chr9:135778867 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453870]|Tuberous sclerosis 1 [RCV000818449] Chr9:132896335 [GRCh38]
Chr9:135771722 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln) single nucleotide variant Tuberous sclerosis 1 [RCV000796332] Chr9:132905672 [GRCh38]
Chr9:135781059 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003344053]|Tuberous sclerosis 1 [RCV000796501] Chr9:132921417 [GRCh38]
Chr9:135796804 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.521A>G (p.Glu174Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000799143] Chr9:132921961 [GRCh38]
Chr9:135797348 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.263C>G (p.Ser88Cys) single nucleotide variant Tuberous sclerosis 1 [RCV000818903] Chr9:132925687 [GRCh38]
Chr9:135801074 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.111T>C (p.Arg37=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434081]|Tuberous sclerosis 1 [RCV000864257]|not provided [RCV003884752] Chr9:132927300 [GRCh38]
Chr9:135802687 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+283A>G single nucleotide variant not provided [RCV000828923] Chr9:132921080 [GRCh38]
Chr9:135796467 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu) single nucleotide variant Tuberous sclerosis 1 [RCV000812934] Chr9:132900789 [GRCh38]
Chr9:135776176 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-222C>T single nucleotide variant not provided [RCV000837380] Chr9:132901921 [GRCh38]
Chr9:135777308 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453830]|Tuberous sclerosis 1 [RCV000810874]|not provided [RCV002260669] Chr9:132896341 [GRCh38]
Chr9:135771728 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.959_965del (p.Leu320fs) deletion Tuberous sclerosis syndrome [RCV000826207] Chr9:132911517..132911523 [GRCh38]
Chr9:135786904..135786910 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.237T>C (p.Tyr79=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454217]|Tuberous sclerosis 1 [RCV000978935] Chr9:132925713 [GRCh38]
Chr9:135801100 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307494]|Lymphangiomyomatosis [RCV002495109]|Tuberous sclerosis 1 [RCV000808604] Chr9:132897585 [GRCh38]
Chr9:135772972 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1619T>C (p.Leu540Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000811267] Chr9:132905959 [GRCh38]
Chr9:135781346 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440669]|Lymphangiomyomatosis [RCV002487685]|Tuberous sclerosis 1 [RCV000799995] Chr9:132925678 [GRCh38]
Chr9:135801065 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015382]|Tuberous sclerosis 1 [RCV000816577]|not provided [RCV001766718] Chr9:132901698 [GRCh38]
Chr9:135777085 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440647]|Tuberous sclerosis 1 [RCV000796986] Chr9:132896735 [GRCh38]
Chr9:135772122 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly) single nucleotide variant Tuberous sclerosis 1 [RCV000813504] Chr9:132905764 [GRCh38]
Chr9:135781151 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del) microsatellite Hereditary cancer-predisposing syndrome [RCV002442652]|Tuberous sclerosis 1 [RCV000800186] Chr9:132901632..132901634 [GRCh38]
Chr9:135777019..135777021 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2766T>C (p.Leu922=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434290]|Tuberous sclerosis 1 [RCV001471580] Chr9:132897470 [GRCh38]
Chr9:135772857 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3436del (p.Asp1146fs) deletion Tuberous sclerosis 1 [RCV000797296] Chr9:132896294 [GRCh38]
Chr9:135771681 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2360del (p.Glu787fs) deletion Tuberous sclerosis 1 [RCV000817013] Chr9:132902636 [GRCh38]
Chr9:135778023 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307472]|Isolated focal cortical dysplasia type II [RCV001331173]|Tuberous sclerosis 1 [RCV000803752] Chr9:132905641 [GRCh38]
Chr9:135781028 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442707]|Isolated focal cortical dysplasia type II [RCV003472401]|Tuberous sclerosis 1 [RCV000809055] Chr9:132902712 [GRCh38]
Chr9:135778099 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.651A>G (p.Glu217=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363181]|Tuberous sclerosis 1 [RCV001087179]|not provided [RCV000827149]|not specified [RCV003317387] Chr9:132921831 [GRCh38]
Chr9:135797218 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2244G>C (p.Gln748His) single nucleotide variant Tuberous sclerosis 1 [RCV000795121] Chr9:132902752 [GRCh38]
Chr9:135778139 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000817135] Chr9:132896726 [GRCh38]
Chr9:135772113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.663+35T>C single nucleotide variant not provided [RCV000839052] Chr9:132921784 [GRCh38]
Chr9:135797171 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2761C>A (p.His921Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000792900] Chr9:132897475 [GRCh38]
Chr9:135772862 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro) single nucleotide variant Tuberous sclerosis 1 [RCV000804217] Chr9:132903815 [GRCh38]
Chr9:135779202 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1848C>G (p.Ala616=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409180]|Tuberous sclerosis 1 [RCV000920503] Chr9:132905730 [GRCh38]
Chr9:135781117 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-7C>G single nucleotide variant Tuberous sclerosis 1 [RCV001486232] Chr9:132923499 [GRCh38]
Chr9:135798886 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.689A>G (p.His230Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360921]|Tuberous sclerosis 1 [RCV000795456] Chr9:132921411 [GRCh38]
Chr9:135796798 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.(?_132896215)_(132928892_?)del deletion Tuberous sclerosis 1 [RCV000808646] Chr9:132896215..132928892 [GRCh38]
Chr9:135771602..135804279 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.929C>T (p.Thr310Ile) single nucleotide variant Tuberous sclerosis 1 [RCV000812022] Chr9:132911553 [GRCh38]
Chr9:135786940 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.(?_132910551)_(132928892_?)del deletion Tuberous sclerosis 1 [RCV001031187] Chr9:135785938..135804279 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320262]|Tuberous sclerosis 1 [RCV001045909] Chr9:132896405 [GRCh38]
Chr9:135771792 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*4105C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166125]|Tuberous sclerosis 1 [RCV001166610] Chr9:132892130 [GRCh38]
Chr9:135767517 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3648C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169108]|Tuberous sclerosis 1 [RCV001166186] Chr9:132892587 [GRCh38]
Chr9:135767974 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4680G>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168286]|Tuberous sclerosis 1 [RCV001166550]|not provided [RCV003433070] Chr9:132891555 [GRCh38]
Chr9:135766942 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del) microsatellite Tuberous sclerosis 1 [RCV001068190]|not provided [RCV001760044] Chr9:132925604..132925606 [GRCh38]
Chr9:135800991..135800993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2104A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166811]|Tuberous sclerosis 1 [RCV001166812] Chr9:132894131 [GRCh38]
Chr9:135769518 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.809C>A (p.Ser270Ter) single nucleotide variant not provided [RCV001090693] Chr9:132912386 [GRCh38]
Chr9:135787773 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*350G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001167013]|Tuberous sclerosis 1 [RCV001167012] Chr9:132895885 [GRCh38]
Chr9:135771272 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*250G>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169489]|Tuberous sclerosis 1 [RCV001168724] Chr9:132895985 [GRCh38]
Chr9:135771372 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001047141] Chr9:132896392 [GRCh38]
Chr9:135771779 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1703G>C (p.Gly568Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001044024] Chr9:132905875 [GRCh38]
Chr9:135781262 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3685G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169107]|Tuberous sclerosis 1 [RCV001169106] Chr9:132892550 [GRCh38]
Chr9:135767937 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) single nucleotide variant Isolated focal cortical dysplasia type II [RCV001167196]|Tuberous sclerosis 1 [RCV001165609] Chr9:132905819 [GRCh38]
Chr9:135781206 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022032]|Tuberous sclerosis 1 [RCV001344829] Chr9:132923437 [GRCh38]
Chr9:135798824 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs) insertion not provided [RCV000993360] Chr9:132903706..132903707 [GRCh38]
Chr9:135779093..135779094 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1085C>T (p.Pro362Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001907791] Chr9:132911058 [GRCh38]
Chr9:135786445 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.968C>T (p.Pro323Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019621] Chr9:132911514 [GRCh38]
Chr9:135786901 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.96C>A (p.Asn32Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019650] Chr9:132928777 [GRCh38]
Chr9:135804164 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.571C>A (p.Leu191Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001068631] Chr9:132921911 [GRCh38]
Chr9:135797298 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr) indel Hereditary cancer-predisposing syndrome [RCV002382139]|Tuberous sclerosis 1 [RCV001451660] Chr9:132911516..132911517 [GRCh38]
Chr9:135786903..135786904 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1047del (p.Ser350fs) deletion Tuberous sclerosis 1 [RCV001889031] Chr9:132911096 [GRCh38]
Chr9:135786483 [GRCh37]
Chr9:9q34.13		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_000368.5(TSC1):c.1389del (p.Gly464fs) deletion Tuberous sclerosis 1 [RCV000988277] Chr9:132906780 [GRCh38]
Chr9:135782167 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.403G>A (p.Val135Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021733]|Tuberous sclerosis 1 [RCV001360766] Chr9:132923453 [GRCh38]
Chr9:135798840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020781] Chr9:132925587 [GRCh38]
Chr9:135800974 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2640del (p.Met880fs) deletion not provided [RCV001008761] Chr9:132897596 [GRCh38]
Chr9:135772983 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.33T>C (p.Leu11=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020204]|Tuberous sclerosis 1 [RCV001443033] Chr9:132928840 [GRCh38]
Chr9:135804227 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001228272] Chr9:132896720 [GRCh38]
Chr9:135772107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3417C>T (p.His1139=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020249]|Tuberous sclerosis 1 [RCV002550857] Chr9:132896313 [GRCh38]
Chr9:135771700 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416367]|Isolated focal cortical dysplasia type II [RCV003462533]|Tuberous sclerosis 1 [RCV001045691] Chr9:132903808 [GRCh38]
Chr9:135779195 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.(?_132896215)_(132900857_?)del deletion Tuberous sclerosis 1 [RCV001031364] Chr9:135771602..135776244 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3483T>C (p.His1161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020410] Chr9:132896247 [GRCh38]
Chr9:135771634 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021393]|Tuberous sclerosis 1 [RCV001053574] Chr9:132928835 [GRCh38]
Chr9:135804222 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NC_000009.12:g.(?_132900348)_(132921993_?)del deletion Tuberous sclerosis 1 [RCV001032147] Chr9:135775735..135797380 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1237del (p.Gln413fs) deletion Tuberous sclerosis 1 [RCV001293857]|not provided [RCV001008215] Chr9:132910597 [GRCh38]
Chr9:135785984 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001242480] Chr9:132900776 [GRCh38]
Chr9:135776163 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001232999] Chr9:132896299 [GRCh38]
Chr9:135771686 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001233093] Chr9:132896393 [GRCh38]
Chr9:135771780 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs) deletion Tuberous sclerosis 1 [RCV001208288] Chr9:132905719..132905720 [GRCh38]
Chr9:135781106..135781107 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1802C>A (p.Pro601His) single nucleotide variant Tuberous sclerosis 1 [RCV001201723] Chr9:132905776 [GRCh38]
Chr9:135781163 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001226856] Chr9:132896516 [GRCh38]
Chr9:135771903 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163657]|Tuberous sclerosis 1 [RCV001215928] Chr9:132905826 [GRCh38]
Chr9:135781213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.574del (p.Tyr192fs) deletion Tuberous sclerosis 1 [RCV001237508] Chr9:132921908 [GRCh38]
Chr9:135797295 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.698T>G (p.Leu233Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001208764] Chr9:132921402 [GRCh38]
Chr9:135796789 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.640G>A (p.Glu214Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001231197] Chr9:132921842 [GRCh38]
Chr9:135797229 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.132945048_132947679del deletion Tuberous sclerosis 1 [RCV001222135] Chr9:132945048..132947679 [GRCh38]
Chr9:135820435..135823066 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1962G>C (p.Gln654His) single nucleotide variant Tuberous sclerosis 1 [RCV001240574] Chr9:132905616 [GRCh38]
Chr9:135781003 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363G>C (p.Lys121Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001231647] Chr9:132925587 [GRCh38]
Chr9:135800974 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.1336G>T (p.Glu446Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001204979] Chr9:132906833 [GRCh38]
Chr9:135782220 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1030G>C (p.Ala344Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001216089] Chr9:132911113 [GRCh38]
Chr9:135786500 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.326_328del (p.Gln109_Ala110delinsPro) deletion Tuberous sclerosis 1 [RCV001237601] Chr9:132925622..132925624 [GRCh38]
Chr9:135801009..135801011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163667]|Tuberous sclerosis 1 [RCV001216992]|not provided [RCV001751408] Chr9:132896462 [GRCh38]
Chr9:135771849 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001205944] Chr9:132896450 [GRCh38]
Chr9:135771837 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001222259] Chr9:132901633 [GRCh38]
Chr9:135777020 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.195A>G (p.Gln65=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418736]|Tuberous sclerosis 1 [RCV001214225] Chr9:132927216 [GRCh38]
Chr9:135802603 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2684T>C (p.Val895Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001237852] Chr9:132897552 [GRCh38]
Chr9:135772939 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2042-10T>A single nucleotide variant Tuberous sclerosis 1 [RCV001222960] Chr9:132903827 [GRCh38]
Chr9:135779214 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001222947] Chr9:132896403 [GRCh38]
Chr9:135771790 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411821]|Tuberous sclerosis 1 [RCV001222625] Chr9:132905732 [GRCh38]
Chr9:135781119 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1480G>A (p.Ala494Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001240949] Chr9:132906098 [GRCh38]
Chr9:135781485 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003469325]|Tuberous sclerosis 1 [RCV001203495] Chr9:132923381 [GRCh38]
Chr9:135798768 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.891del (p.Pro296_Tyr297insTer) deletion Tuberous sclerosis 1 [RCV001206323] Chr9:132912304 [GRCh38]
Chr9:135787691 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.191T>A (p.Leu64Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001208919] Chr9:132927220 [GRCh38]
Chr9:135802607 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447184]|Tuberous sclerosis 1 [RCV001237228] Chr9:132911566 [GRCh38]
Chr9:135786953 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1684G>A (p.Ala562Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001241120] Chr9:132905894 [GRCh38]
Chr9:135781281 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs) deletion Tuberous sclerosis 1 [RCV001220572] Chr9:132896370..132896371 [GRCh38]
Chr9:135771757..135771758 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.935A>C (p.Tyr312Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001234758] Chr9:132911547 [GRCh38]
Chr9:135786934 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1206T>A (p.His402Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001220443] Chr9:132910628 [GRCh38]
Chr9:135786015 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs) indel Tuberous sclerosis 1 [RCV001239926] Chr9:132923438..132923450 [GRCh38]
Chr9:135798825..135798837 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.91G>C (p.Glu31Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001209299] Chr9:132928782 [GRCh38]
Chr9:135804169 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2159del (p.Leu720fs) deletion Tuberous sclerosis 1 [RCV001239992] Chr9:132903700 [GRCh38]
Chr9:135779087 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451523]|Lymphangiomyomatosis [RCV002480737]|Tuberous sclerosis 1 [RCV001223518] Chr9:132896336 [GRCh38]
Chr9:135771723 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2885T>A (p.Ile962Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001221158] Chr9:132897274 [GRCh38]
Chr9:135772661 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.507A>G (p.Pro169=) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003473816]|Tuberous sclerosis 1 [RCV001237934] Chr9:132923349 [GRCh38]
Chr9:135798736 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.403G>C (p.Val135Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001240456] Chr9:132923453 [GRCh38]
Chr9:135798840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.326A>G (p.Gln109Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001209937] Chr9:132925624 [GRCh38]
Chr9:135801011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.611G>A (p.Arg204His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356876]|Isolated focal cortical dysplasia type II [RCV003469328]|Tuberous sclerosis 1 [RCV001203672] Chr9:132921871 [GRCh38]
Chr9:135797258 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001221314] Chr9:132903793 [GRCh38]
Chr9:135779180 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322096]|Tuberous sclerosis 1 [RCV001226460] Chr9:132927299 [GRCh38]
Chr9:135802686 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001043093] Chr9:132902663 [GRCh38]
Chr9:135778050 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001246123] Chr9:132905608 [GRCh38]
Chr9:135780995 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.278T>C (p.Leu93Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001210611] Chr9:132925672 [GRCh38]
Chr9:135801059 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393466]|Tuberous sclerosis 1 [RCV001207534] Chr9:132906132 [GRCh38]
Chr9:135781519 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001207537] Chr9:132902733 [GRCh38]
Chr9:135778120 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.664-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV001199395] Chr9:132921438 [GRCh38]
Chr9:135796825 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1030-6T>A single nucleotide variant Tuberous sclerosis 1 [RCV001210548] Chr9:132911119 [GRCh38]
Chr9:135786506 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2321_2330del (p.Lys774fs) deletion Lymphangiomyomatosis [RCV001198227] Chr9:132902666..132902675 [GRCh38]
Chr9:135778053..135778062 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166406]|Tuberous sclerosis 1 [RCV001230610] Chr9:132923443 [GRCh38]
Chr9:135798830 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1597C>A (p.Pro533Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001229842] Chr9:132905981 [GRCh38]
Chr9:135781368 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001229844] Chr9:132896617 [GRCh38]
Chr9:135772004 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs) deletion Tuberous sclerosis 1 [RCV001199382] Chr9:132906074..132906092 [GRCh38]
Chr9:135781461..135781479 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001229466] Chr9:132902724 [GRCh38]
Chr9:135778111 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001215456] Chr9:132902651 [GRCh38]
Chr9:135778038 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+2T>A single nucleotide variant not provided [RCV003312744] Chr9:132901587 [GRCh38]
Chr9:135776974 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1998-2A>C single nucleotide variant Tuberous sclerosis 1 [RCV003505153]|not provided [RCV000999259] Chr9:132904456 [GRCh38]
Chr9:135779843 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer) deletion Tuberous sclerosis 1 [RCV000988274] Chr9:132901651 [GRCh38]
Chr9:135777038 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001202159] Chr9:132904432 [GRCh38]
Chr9:135779819 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.116_119dup (p.Met40fs) duplication not provided [RCV001009207] Chr9:132927291..132927292 [GRCh38]
Chr9:135802678..135802679 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) single nucleotide variant Tuberous sclerosis 1 [RCV001247178]|not provided [RCV001773564] Chr9:132901657 [GRCh38]
Chr9:135777044 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020248]|Tuberous sclerosis 1 [RCV001209377]|not provided [RCV001759703] Chr9:132896313 [GRCh38]
Chr9:135771700 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.370A>T (p.Thr124Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001228945] Chr9:132923486 [GRCh38]
Chr9:135798873 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13-34.2(chr9:135699918-136011082)x3 copy number gain not provided [RCV000845710] Chr9:135699918..136011082 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.*3484A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166188]|Tuberous sclerosis 1 [RCV001166187] Chr9:132892751 [GRCh38]
Chr9:135768138 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4788A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166548]|Tuberous sclerosis 1 [RCV001166549] Chr9:132891447 [GRCh38]
Chr9:135766834 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1614del (p.Ser539fs) deletion Tuberous sclerosis 1 [RCV001199384] Chr9:132905964 [GRCh38]
Chr9:135781351 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.634_635del (p.Asn212fs) deletion Tuberous sclerosis 1 [RCV001199394] Chr9:132921847..132921848 [GRCh38]
Chr9:135797234..135797235 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.*2890A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169169]|Tuberous sclerosis 1 [RCV001253929] Chr9:132893345 [GRCh38]
Chr9:135768732 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs) deletion Tuberous sclerosis 1 [RCV001199392] Chr9:132897562..132897565 [GRCh38]
Chr9:135772949..135772952 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.364-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV001199393] Chr9:132923494 [GRCh38]
Chr9:135798881 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.*1839G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169282]|Tuberous sclerosis 1 [RCV001169281] Chr9:132894396 [GRCh38]
Chr9:135769783 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*116A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169493]|Tuberous sclerosis 1 [RCV001169492] Chr9:132896119 [GRCh38]
Chr9:135771506 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-10_2626-9insG insertion Tuberous sclerosis 1 [RCV003105062] Chr9:132897619..132897620 [GRCh38]
Chr9:135773006..135773007 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2864C>T (p.Thr955Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003104589] Chr9:132897295 [GRCh38]
Chr9:135772682 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.132944713A>G single nucleotide variant not provided [RCV001565569] Chr9:132944713 [GRCh38]
Chr9:135820100 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2497dup (p.Gln833fs) duplication not provided [RCV001574868] Chr9:132901593..132901594 [GRCh38]
Chr9:135776980..135776981 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1263+248_1263+251dup duplication not provided [RCV001548404] Chr9:132910301..132910302 [GRCh38]
Chr9:135785688..135785689 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+572A>G single nucleotide variant not provided [RCV001673839] Chr9:132900143 [GRCh38]
Chr9:135775530 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1438+164_1438+167dup duplication not provided [RCV001575824] Chr9:132906548..132906549 [GRCh38]
Chr9:135781935..135781936 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+92G>T single nucleotide variant not provided [RCV001715719] Chr9:132906639 [GRCh38]
Chr9:135782026 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2625+75A>T single nucleotide variant not provided [RCV001555494] Chr9:132900640 [GRCh38]
Chr9:135776027 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2699_2700insAA (p.Leu902fs) insertion not provided [RCV001560918] Chr9:132897536..132897537 [GRCh38]
Chr9:135772923..135772924 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.106+187G>T single nucleotide variant not provided [RCV001555902] Chr9:132928580 [GRCh38]
Chr9:135803967 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+269del deletion not provided [RCV001713856] Chr9:132910302 [GRCh38]
Chr9:135785689 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.107-148A>C single nucleotide variant not provided [RCV001718152] Chr9:132927452 [GRCh38]
Chr9:135802839 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.134T>A (p.Leu45Ter) single nucleotide variant not provided [RCV001530776] Chr9:132927277 [GRCh38]
Chr9:135802664 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001882751]|not provided [RCV001653085] Chr9:132905681 [GRCh38]
Chr9:135781068 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1998-172_1998-166del deletion not provided [RCV001677292] Chr9:132904620..132904626 [GRCh38]
Chr9:135780007..135780013 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1264-191dup duplication not provided [RCV001715435] Chr9:132907560..132907561 [GRCh38]
Chr9:135782947..135782948 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1439-183C>G single nucleotide variant not provided [RCV001677406] Chr9:132906322 [GRCh38]
Chr9:135781709 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2632G>T (p.Glu878Ter) single nucleotide variant not provided [RCV001574706] Chr9:132897604 [GRCh38]
Chr9:135772991 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.663+9A>G single nucleotide variant Tuberous sclerosis 1 [RCV000943644] Chr9:132921810 [GRCh38]
Chr9:135797197 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2223G>A (p.Lys741=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427422]|Tuberous sclerosis 1 [RCV001401578] Chr9:132902773 [GRCh38]
Chr9:135778160 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) single nucleotide variant Tuberous sclerosis 1 [RCV001479031] Chr9:132905865 [GRCh38]
Chr9:135781252 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1464G>A (p.Glu488=) single nucleotide variant Tuberous sclerosis 1 [RCV001444954] Chr9:132906114 [GRCh38]
Chr9:135781501 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1935A>G (p.Pro645=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409122]|Tuberous sclerosis 1 [RCV001483718] Chr9:132905643 [GRCh38]
Chr9:135781030 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2367C>T (p.Phe789=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445092]|Tuberous sclerosis 1 [RCV001436846] Chr9:132902629 [GRCh38]
Chr9:135778016 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.201A>C (p.Pro67=) single nucleotide variant Tuberous sclerosis 1 [RCV001457404] Chr9:132927210 [GRCh38]
Chr9:135802597 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.770T>A (p.Ile257Asn) single nucleotide variant Tuberous sclerosis 1 [RCV000983883] Chr9:132912425 [GRCh38]
Chr9:135787812 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.107-7_107-3dup duplication Tuberous sclerosis 1 [RCV001408684] Chr9:132927306..132927307 [GRCh38]
Chr9:135802693..135802694 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.546C>T (p.Ala182=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256608]|Tuberous sclerosis 1 [RCV000932424] Chr9:132921936 [GRCh38]
Chr9:135797323 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3456T>C (p.His1152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307711]|Tuberous sclerosis 1 [RCV000932543] Chr9:132896274 [GRCh38]
Chr9:135771661 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2997G>A (p.Gly999=) single nucleotide variant Tuberous sclerosis 1 [RCV001505954] Chr9:132896733 [GRCh38]
Chr9:135772120 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255577]|Tuberous sclerosis 1 [RCV000923104] Chr9:132896595 [GRCh38]
Chr9:135771982 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.270C>T (p.Leu90=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434234]|Tuberous sclerosis 1 [RCV000931046] Chr9:132925680 [GRCh38]
Chr9:135801067 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+5T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169341]|Tuberous sclerosis 1 [RCV000929942] Chr9:132927196 [GRCh38]
Chr9:135802583 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.36C>A (p.Ala12=) single nucleotide variant Tuberous sclerosis 1 [RCV001406993] Chr9:132928837 [GRCh38]
Chr9:135804224 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409306]|Tuberous sclerosis 1 [RCV000980716]|not provided [RCV003883521] Chr9:132905745 [GRCh38]
Chr9:135781132 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014984]|Tuberous sclerosis 1 [RCV000887489]|not provided [RCV003432878] Chr9:132902728 [GRCh38]
Chr9:135778115 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.873T>C (p.Asp291=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002372476]|Tuberous sclerosis 1 [RCV001490476] Chr9:132912322 [GRCh38]
Chr9:135787709 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=) single nucleotide variant Tuberous sclerosis 1 [RCV000892445] Chr9:132896298 [GRCh38]
Chr9:135771685 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.176A>T (p.His59Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001518037] Chr9:132927235 [GRCh38]
Chr9:135802622 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454110]|Tuberous sclerosis 1 [RCV000928456]|not provided [RCV001731979] Chr9:132901643 [GRCh38]
Chr9:135777030 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1333+7T>A single nucleotide variant Tuberous sclerosis 1 [RCV001406057] Chr9:132907294 [GRCh38]
Chr9:135782681 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454065]|Tuberous sclerosis 1 [RCV000887620] Chr9:132896304 [GRCh38]
Chr9:135771691 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.219G>A (p.Leu73=) single nucleotide variant Tuberous sclerosis 1 [RCV001438594] Chr9:132925731 [GRCh38]
Chr9:135801118 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2988T>C (p.Cys996=) single nucleotide variant Tuberous sclerosis 1 [RCV001465390] Chr9:132896742 [GRCh38]
Chr9:135772129 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1439-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV000919619] Chr9:132906146 [GRCh38]
Chr9:135781533 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1563G>C (p.Ser521=) single nucleotide variant Tuberous sclerosis 1 [RCV000918092] Chr9:132906015 [GRCh38]
Chr9:135781402 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-13dup duplication Tuberous sclerosis 1 [RCV001439048] Chr9:132923501..132923502 [GRCh38]
Chr9:135798888..135798889 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.657G>T (p.Val219=) single nucleotide variant Tuberous sclerosis 1 [RCV001467659] Chr9:132921825 [GRCh38]
Chr9:135797212 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1392T>C (p.Gly464=) single nucleotide variant Tuberous sclerosis 1 [RCV001458263] Chr9:132906777 [GRCh38]
Chr9:135782164 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2064C>A (p.Ile688=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416190]|Tuberous sclerosis 1 [RCV001453826] Chr9:132903795 [GRCh38]
Chr9:135779182 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.420A>G (p.Leu140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332922]|Tuberous sclerosis 1 [RCV000938471] Chr9:132923436 [GRCh38]
Chr9:135798823 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.348A>G (p.Leu116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454117]|Tuberous sclerosis 1 [RCV001443116] Chr9:132925602 [GRCh38]
Chr9:135800989 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.339G>A (p.Leu113=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169437]|Tuberous sclerosis 1 [RCV001448413] Chr9:132925611 [GRCh38]
Chr9:135800998 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1719G>A (p.Gln573=) single nucleotide variant Tuberous sclerosis 1 [RCV001447921] Chr9:132905859 [GRCh38]
Chr9:135781246 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-5T>C single nucleotide variant Tuberous sclerosis 1 [RCV001518901] Chr9:132897615 [GRCh38]
Chr9:135773002 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.996C>T (p.Ser332=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382144]|Tuberous sclerosis 1 [RCV001488932] Chr9:132911486 [GRCh38]
Chr9:135786873 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.999A>G (p.Pro333=) single nucleotide variant Tuberous sclerosis 1 [RCV001429642] Chr9:132911483 [GRCh38]
Chr9:135786870 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1347C>A (p.Gly449=) single nucleotide variant Tuberous sclerosis 1 [RCV001494435] Chr9:132906822 [GRCh38]
Chr9:135782209 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.9A>G (p.Gln3=) single nucleotide variant Tuberous sclerosis 1 [RCV000932255] Chr9:132928864 [GRCh38]
Chr9:135804251 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.762T>C (p.Asp254=) single nucleotide variant Tuberous sclerosis 1 [RCV000876742] Chr9:132912433 [GRCh38]
Chr9:135787820 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1198C>T (p.Leu400Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001048944] Chr9:132910636 [GRCh38]
Chr9:135786023 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001221957] Chr9:132902745 [GRCh38]
Chr9:135778132 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001222026] Chr9:132897592 [GRCh38]
Chr9:135772979 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1527del (p.Asp510fs) deletion Tuberous sclerosis 1 [RCV001199383] Chr9:132906051 [GRCh38]
Chr9:135781438 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.123T>A (p.Leu41=) single nucleotide variant Tuberous sclerosis 1 [RCV001203156] Chr9:132927288 [GRCh38]
Chr9:135802675 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001235747] Chr9:132903747 [GRCh38]
Chr9:135779134 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.79G>C (p.Ala27Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001207502] Chr9:132928794 [GRCh38]
Chr9:135804181 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn) inversion Tuberous sclerosis 1 [RCV001207507] Chr9:132905722..132905723 [GRCh38]
Chr9:135781109..135781110 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001218787] Chr9:132902682 [GRCh38]
Chr9:135778069 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1565C>T (p.Ala522Val) single nucleotide variant Tuberous sclerosis 1 [RCV001226109] Chr9:132906013 [GRCh38]
Chr9:135781400 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1255C>G (p.Pro419Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001214224] Chr9:132910579 [GRCh38]
Chr9:135785966 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416376]|Tuberous sclerosis 1 [RCV001049595] Chr9:132903784 [GRCh38]
Chr9:135779171 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.831del (p.Ser278fs) deletion Tuberous sclerosis 1 [RCV001214482] Chr9:132912364 [GRCh38]
Chr9:135787751 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447137]|Isolated focal cortical dysplasia type II [RCV003473787]|Tuberous sclerosis 1 [RCV001226569] Chr9:132896668 [GRCh38]
Chr9:135772055 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1228del (p.Ser410fs) deletion Tuberous sclerosis 1 [RCV001244743] Chr9:132910606 [GRCh38]
Chr9:135785993 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.679G>C (p.Val227Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001226821] Chr9:132921421 [GRCh38]
Chr9:135796808 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs) indel Tuberous sclerosis 1 [RCV001243019] Chr9:132905618..132905622 [GRCh38]
Chr9:135781005..135781009 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434429]|Tuberous sclerosis 1 [RCV001036153] Chr9:132897224 [GRCh38]
Chr9:135772611 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.598G>T (p.Val200Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001222938] Chr9:132921884 [GRCh38]
Chr9:135797271 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.115C>T (p.Pro39Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001239584] Chr9:132927296 [GRCh38]
Chr9:135802683 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+6G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169586]|Tuberous sclerosis 1 [RCV001169585] Chr9:132905575 [GRCh38]
Chr9:135780962 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445213]|Tuberous sclerosis 1 [RCV001036371] Chr9:132902661 [GRCh38]
Chr9:135778048 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416382]|Tuberous sclerosis 1 [RCV001050694] Chr9:132903773 [GRCh38]
Chr9:135779160 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001243426] Chr9:132897538 [GRCh38]
Chr9:135772925 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001227404] Chr9:132897472 [GRCh38]
Chr9:135772859 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429968]|Tuberous sclerosis 1 [RCV001227429] Chr9:132900827 [GRCh38]
Chr9:135776214 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001227482] Chr9:132897455 [GRCh38]
Chr9:135772842 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003469470]|Tuberous sclerosis 1 [RCV001245202] Chr9:132911478 [GRCh38]
Chr9:135786865 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+357_2625+372del deletion Tuberous sclerosis 1 [RCV001245404] Chr9:132900343..132900358 [GRCh38]
Chr9:135775730..135775745 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327413]|Isolated focal cortical dysplasia type II [RCV001167268]|Tuberous sclerosis 1 [RCV001165675] Chr9:132910657 [GRCh38]
Chr9:135786044 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1207T>G (p.Ser403Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001216987] Chr9:132910627 [GRCh38]
Chr9:135786014 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429969]|Isolated focal cortical dysplasia type II [RCV003473792]|Tuberous sclerosis 1 [RCV001227729]|not provided [RCV001575745] Chr9:132897601 [GRCh38]
Chr9:135772988 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs) duplication Tuberous sclerosis 1 [RCV001240519] Chr9:132896352..132896353 [GRCh38]
Chr9:135771739..135771740 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294090]|Tuberous sclerosis 1 [RCV001227823] Chr9:132905954 [GRCh38]
Chr9:135781341 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2854T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166238]|Tuberous sclerosis 1 [RCV001166237] Chr9:132893381 [GRCh38]
Chr9:135768768 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1780G>A (p.Val594Met) single nucleotide variant Tuberous sclerosis 1 [RCV001220593] Chr9:132905798 [GRCh38]
Chr9:135781185 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001066892] Chr9:132901605 [GRCh38]
Chr9:135776992 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3436G>C (p.Asp1146His) single nucleotide variant Tuberous sclerosis 1 [RCV001069525] Chr9:132896294 [GRCh38]
Chr9:135771681 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001224547] Chr9:132896472 [GRCh38]
Chr9:135771859 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1452A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166873]|Tuberous sclerosis 1 [RCV001166872] Chr9:132894783 [GRCh38]
Chr9:135770170 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1036C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166948]|Tuberous sclerosis 1 [RCV001166947] Chr9:132895199 [GRCh38]
Chr9:135770586 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3444del (p.Gly1149fs) deletion Tuberous sclerosis 1 [RCV001206376] Chr9:132896286 [GRCh38]
Chr9:135771673 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1681A>G (p.Ser561Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001217549] Chr9:132905897 [GRCh38]
Chr9:135781284 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.193C>T (p.Gln65Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001211811] Chr9:132927218 [GRCh38]
Chr9:135802605 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003373029]|Tuberous sclerosis 1 [RCV001206596] Chr9:132896647 [GRCh38]
Chr9:135772034 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-5T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339527]|Tuberous sclerosis 1 [RCV001206656] Chr9:132921978 [GRCh38]
Chr9:135797365 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436685]|Tuberous sclerosis 1 [RCV001070184] Chr9:132897607 [GRCh38]
Chr9:135772994 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365285]|Tuberous sclerosis 1 [RCV001243935] Chr9:132905782 [GRCh38]
Chr9:135781169 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307919]|Tuberous sclerosis 1 [RCV001068118]|not provided [RCV002276612] Chr9:132912309 [GRCh38]
Chr9:135787696 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.846del (p.Ala283fs) deletion Lymphangiomyomatosis [RCV002497782]|Tuberous sclerosis 1 [RCV001229700] Chr9:132912349 [GRCh38]
Chr9:135787736 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.2106dup (p.Leu703fs) duplication Tuberous sclerosis 1 [RCV001218210] Chr9:132903752..132903753 [GRCh38]
Chr9:135779139..135779140 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1782G>A (p.Val594=) single nucleotide variant Tuberous sclerosis 1 [RCV001455146] Chr9:132905796 [GRCh38]
Chr9:135781183 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.468C>T (p.Asp156=) single nucleotide variant Tuberous sclerosis 1 [RCV000935689] Chr9:132923388 [GRCh38]
Chr9:135798775 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.432A>C (p.Pro144=) single nucleotide variant Tuberous sclerosis 1 [RCV001472873] Chr9:132923424 [GRCh38]
Chr9:135798811 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.870C>G (p.Ala290=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018211]|Tuberous sclerosis 1 [RCV000935617] Chr9:132912325 [GRCh38]
Chr9:135787712 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.664-9C>T single nucleotide variant Tuberous sclerosis 1 [RCV000935644] Chr9:132921445 [GRCh38]
Chr9:135796832 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2178A>G (p.Ala726=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307721]|Tuberous sclerosis 1 [RCV001488036] Chr9:132903681 [GRCh38]
Chr9:135779068 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1632G>T (p.Gly544=) single nucleotide variant not provided [RCV000934930] Chr9:132905946 [GRCh38]
Chr9:135781333 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-5G>C single nucleotide variant Tuberous sclerosis 1 [RCV001453399] Chr9:132902792 [GRCh38]
Chr9:135778179 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1497T>G (p.Pro499=) single nucleotide variant Tuberous sclerosis 1 [RCV001427013] Chr9:132906081 [GRCh38]
Chr9:135781468 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-11T>G single nucleotide variant Tuberous sclerosis 1 [RCV002074006]|not provided [RCV001764936] Chr9:132900848 [GRCh38]
Chr9:135776235 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.633A>G (p.Glu211=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003346217]|Tuberous sclerosis 1 [RCV001400662] Chr9:132921849 [GRCh38]
Chr9:135797236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.81T>C (p.Ala27=) single nucleotide variant Tuberous sclerosis 1 [RCV001434120] Chr9:132928792 [GRCh38]
Chr9:135804179 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002390963]|Tuberous sclerosis 1 [RCV001462658] Chr9:132906045 [GRCh38]
Chr9:135781432 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255576]|Tuberous sclerosis 1 [RCV000912695] Chr9:132897281 [GRCh38]
Chr9:135772668 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.998del (p.Pro333fs) deletion Tuberous sclerosis 1 [RCV000988279] Chr9:132911484 [GRCh38]
Chr9:135786871 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.461del (p.Phe154fs) deletion Tuberous sclerosis 1 [RCV000988281] Chr9:132923395 [GRCh38]
Chr9:135798782 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-113_107-112del deletion not provided [RCV001578094] Chr9:132927416..132927417 [GRCh38]
Chr9:135802803..135802804 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449367]|Tuberous sclerosis 1 [RCV002072105]|not provided [RCV001558270] Chr9:132896667 [GRCh38]
Chr9:135772054 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-11T>A single nucleotide variant Tuberous sclerosis 1 [RCV002072106]|not provided [RCV001558308] Chr9:132900848 [GRCh38]
Chr9:135776235 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2626-7_2626-4del deletion Hereditary cancer-predisposing syndrome [RCV002255903]|TSC1-related condition [RCV003933715] Chr9:132897614..132897617 [GRCh38]
Chr9:135773001..135773004 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1695C>T (p.Ser565=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257181]|Tuberous sclerosis 1 [RCV003094217] Chr9:132905883 [GRCh38]
Chr9:135781270 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-9_2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002257186] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.773A>T (p.Glu258Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257190] Chr9:132912422 [GRCh38]
Chr9:135787809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1438+270T>C single nucleotide variant not provided [RCV001568522] Chr9:132906461 [GRCh38]
Chr9:135781848 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-139dup duplication not provided [RCV001555250] Chr9:132900973..132900974 [GRCh38]
Chr9:135776360..135776361 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1830G>A (p.Val610=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258531]|Tuberous sclerosis 1 [RCV003774772] Chr9:132905748 [GRCh38]
Chr9:135781135 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1451G>C (p.Arg484Thr) single nucleotide variant not provided [RCV001560592] Chr9:132906127 [GRCh38]
Chr9:135781514 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391+34G>A single nucleotide variant not provided [RCV001547266] Chr9:132902571 [GRCh38]
Chr9:135777958 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135771602)_(136769889_?)dup duplication Tuberous sclerosis 1 [RCV001033460] Chr9:135771602..136769889 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451279]|Tuberous sclerosis 1 [RCV001065275] Chr9:132896323 [GRCh38]
Chr9:135771710 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2813+6T>C single nucleotide variant Tuberous sclerosis 1 [RCV001067082] Chr9:132897417 [GRCh38]
Chr9:135772804 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001045306] Chr9:132903697 [GRCh38]
Chr9:135779084 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001065555] Chr9:132900735 [GRCh38]
Chr9:135776122 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001044312] Chr9:132903811 [GRCh38]
Chr9:135779198 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021433]|Tuberous sclerosis 1 [RCV001220081] Chr9:132923465 [GRCh38]
Chr9:135798852 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1263+248dup duplication not provided [RCV001596613] Chr9:132910301..132910302 [GRCh38]
Chr9:135785688..135785689 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2502+131C>T single nucleotide variant not provided [RCV001659403] Chr9:132901458 [GRCh38]
Chr9:135776845 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1439-209G>C single nucleotide variant not provided [RCV001717175] Chr9:132906348 [GRCh38]
Chr9:135781735 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.914-62_914-58del deletion not provided [RCV001637221] Chr9:132911626..132911630 [GRCh38]
Chr9:135787013..135787017 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3387dup (p.Lys1130fs) duplication Hereditary cancer-predisposing syndrome [RCV001020162] Chr9:132896342..132896343 [GRCh38]
Chr9:135771729..135771730 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1438+182del deletion not provided [RCV001595570] Chr9:132906549 [GRCh38]
Chr9:135781936 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.930C>T (p.Thr310=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019142]|Tuberous sclerosis 1 [RCV001506706] Chr9:132911552 [GRCh38]
Chr9:135786939 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019167]|Tuberous sclerosis 1 [RCV001203395] Chr9:132911551 [GRCh38]
Chr9:135786938 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1438+164dup duplication not provided [RCV001686310] Chr9:132906548..132906549 [GRCh38]
Chr9:135781935..135781936 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2208+211G>A single nucleotide variant not provided [RCV001598704] Chr9:132903440 [GRCh38]
Chr9:135778827 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2503-117G>T single nucleotide variant not provided [RCV001671106] Chr9:132900954 [GRCh38]
Chr9:135776341 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009859]|Tuberous sclerosis 1 [RCV001226646] Chr9:132911065 [GRCh38]
Chr9:135786452 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019642]|Tuberous sclerosis 1 [RCV003614072] Chr9:132896449 [GRCh38]
Chr9:135771836 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.918T>C (p.Cys306=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018987]|Tuberous sclerosis 1 [RCV002068969] Chr9:132911564 [GRCh38]
Chr9:135786951 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1767A>C (p.Pro589=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013039] Chr9:132905811 [GRCh38]
Chr9:135781198 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013240]|Tuberous sclerosis 1 [RCV003769454] Chr9:132905774 [GRCh38]
Chr9:135781161 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.746G>T (p.Arg249Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026473] Chr9:132912449 [GRCh38]
Chr9:135787836 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.765T>G (p.Val255=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026679]|Tuberous sclerosis 1 [RCV001447052] Chr9:132912430 [GRCh38]
Chr9:135787817 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.771C>G (p.Ile257Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026751]|Tuberous sclerosis 1 [RCV001873418] Chr9:132912424 [GRCh38]
Chr9:135787811 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.492G>T (p.Trp164Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023282] Chr9:132923364 [GRCh38]
Chr9:135798751 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2771del (p.Leu924fs) deletion not provided [RCV001093204] Chr9:132897465 [GRCh38]
Chr9:135772852 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1814A>T (p.Asp605Val) single nucleotide variant Tuberous sclerosis 1 [RCV001035684] Chr9:132905764 [GRCh38]
Chr9:135781151 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014297]|Tuberous sclerosis 1 [RCV001339812] Chr9:132903793 [GRCh38]
Chr9:135779180 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*4522C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168290]|Tuberous sclerosis 1 [RCV001168289] Chr9:132891713 [GRCh38]
Chr9:135767100 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.492G>C (p.Trp164Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001071719] Chr9:132923364 [GRCh38]
Chr9:135798751 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002379480]|Tuberous sclerosis 1 [RCV001035955] Chr9:132911448 [GRCh38]
Chr9:135786835 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014606]|Tuberous sclerosis 1 [RCV001319237] Chr9:132903707 [GRCh38]
Chr9:135779094 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014846]|Tuberous sclerosis 1 [RCV001860777] Chr9:132902774 [GRCh38]
Chr9:135778161 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2296G>C (p.Glu766Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015045] Chr9:132902700 [GRCh38]
Chr9:135778087 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+6_2041+7dup duplication Tuberous sclerosis 1 [RCV002069229]|not specified [RCV001193552] Chr9:132904403..132904404 [GRCh38]
Chr9:135779790..135779791 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
GRCh37/hg19 9q34.13(chr9:135668021-135804259)x3 copy number gain not provided [RCV001093285] Chr9:135668021..135804259 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015114]|Lymphangiomyomatosis [RCV002479210]|Tuberous sclerosis 1 [RCV002551774] Chr9:132928851 [GRCh38]
Chr9:135804238 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.238G>A (p.Val80Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015373]|Tuberous sclerosis 1 [RCV001316151] Chr9:132925712 [GRCh38]
Chr9:135801099 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2496C>G (p.Ser832=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015704] Chr9:132901595 [GRCh38]
Chr9:135776982 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2516A>G (p.Glu839Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015821] Chr9:132900824 [GRCh38]
Chr9:135776211 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015906]|Tuberous sclerosis 1 [RCV001860807] Chr9:132900789 [GRCh38]
Chr9:135776176 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.12:g.(?_132944543)_(132945143_?)del deletion Tuberous sclerosis 1 [RCV001032737] Chr9:135819930..135820530 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.2656A>G (p.Lys886Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016228] Chr9:132897580 [GRCh38]
Chr9:135772967 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2736G>A (p.Leu912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016443]|Tuberous sclerosis 1 [RCV003117693] Chr9:132897500 [GRCh38]
Chr9:135772887 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1045C>G (p.Pro349Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001067707] Chr9:132911098 [GRCh38]
Chr9:135786485 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011147]|Tuberous sclerosis 1 [RCV001219824] Chr9:132906814 [GRCh38]
Chr9:135782201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.591C>T (p.Cys197=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024684] Chr9:132921891 [GRCh38]
Chr9:135797278 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1026A>G (p.Pro342=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017014]|Tuberous sclerosis 1 [RCV001421596] Chr9:132911456 [GRCh38]
Chr9:135786843 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1434A>G (p.Glu478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011557] Chr9:132906735 [GRCh38]
Chr9:135782122 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.831G>C (p.Val277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017544] Chr9:132912364 [GRCh38]
Chr9:135787751 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017750]|Tuberous sclerosis 1 [RCV001860874]|not provided [RCV002068954] Chr9:132896756 [GRCh38]
Chr9:135772143 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012141]|Tuberous sclerosis 1 [RCV001301475] Chr9:132906014 [GRCh38]
Chr9:135781401 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012168]|Tuberous sclerosis 1 [RCV001234915] Chr9:132906011 [GRCh38]
Chr9:135781398 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012194]|Tuberous sclerosis 1 [RCV001219201] Chr9:132906016 [GRCh38]
Chr9:135781403 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018157]|Tuberous sclerosis 1 [RCV002068961] Chr9:132896703 [GRCh38]
Chr9:135772090 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe) indel Hereditary cancer-predisposing syndrome [RCV001018493]|Tuberous sclerosis 1 [RCV003614068] Chr9:132896653..132896654 [GRCh38]
Chr9:135772040..135772041 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322105]|Tuberous sclerosis 1 [RCV001228901] Chr9:132896631 [GRCh38]
Chr9:135772018 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1623C>G (p.Asp541Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012447] Chr9:132905955 [GRCh38]
Chr9:135781342 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3152C>A (p.Pro1051His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018836] Chr9:132896578 [GRCh38]
Chr9:135771965 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-167G>A single nucleotide variant not provided [RCV001667812] Chr9:132897777 [GRCh38]
Chr9:135773164 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.738-3259C>T single nucleotide variant not provided [RCV001686048] Chr9:132915716 [GRCh38]
Chr9:135791103 [GRCh37]
Chr9:9q34.13		 benign
NC_000009.12:g.(?_132897164)_(132897630_?)del deletion Tuberous sclerosis 1 [RCV001032949] Chr9:135772551..135773017 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320230]|Tuberous sclerosis 1 [RCV001035281] Chr9:132896408 [GRCh38]
Chr9:135771795 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451311]|Tuberous sclerosis 1 [RCV001071260] Chr9:132896340 [GRCh38]
Chr9:135771727 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+268A>G single nucleotide variant not provided [RCV001533984] Chr9:132904143 [GRCh38]
Chr9:135779530 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1677C>A (p.Cys559Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001035781] Chr9:132905901 [GRCh38]
Chr9:135781288 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436692]|Tuberous sclerosis 1 [RCV001072006] Chr9:132897445 [GRCh38]
Chr9:135772832 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-117G>A single nucleotide variant not provided [RCV001691610] Chr9:132897727 [GRCh38]
Chr9:135773114 [GRCh37]
Chr9:9q34.13		 benign
NC_000009.12:g.(?_132896235)_(132945143_?)dup duplication Tuberous sclerosis 1 [RCV001033679] Chr9:135771622..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001072100] Chr9:132897245 [GRCh38]
Chr9:135772632 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1057dup (p.Cys353fs) duplication Tuberous sclerosis 1 [RCV001050640] Chr9:132911085..132911086 [GRCh38]
Chr9:135786472..135786473 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.737+142T>G single nucleotide variant not provided [RCV001670676] Chr9:132921221 [GRCh38]
Chr9:135796608 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1264-211G>A single nucleotide variant not provided [RCV001614661] Chr9:132907581 [GRCh38]
Chr9:135782968 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2625+373dup duplication not provided [RCV001612750] Chr9:132900331..132900332 [GRCh38]
Chr9:135775718..135775719 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.*1239C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169355]|Tuberous sclerosis 1 [RCV001166414] Chr9:132894996 [GRCh38]
Chr9:135770383 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3959T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168358]|Tuberous sclerosis 1 [RCV001166611] Chr9:132892276 [GRCh38]
Chr9:135767663 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001214029] Chr9:132897444 [GRCh38]
Chr9:135772831 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418850]|Tuberous sclerosis 1 [RCV001246986] Chr9:132903790 [GRCh38]
Chr9:135779177 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1756T>C (p.Cys586Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001218659] Chr9:132905822 [GRCh38]
Chr9:135781209 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1498C>A (p.Arg500=) single nucleotide variant Tuberous sclerosis 1 [RCV001234346] Chr9:132906080 [GRCh38]
Chr9:135781467 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.440G>C (p.Gly147Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001234350] Chr9:132923416 [GRCh38]
Chr9:135798803 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001070811] Chr9:132903677 [GRCh38]
Chr9:135779064 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436595]|Tuberous sclerosis 1 [RCV001049191] Chr9:132897322 [GRCh38]
Chr9:135772709 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411618]|Tuberous sclerosis 1 [RCV001071045] Chr9:132905849 [GRCh38]
Chr9:135781236 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3092T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168416]|Tuberous sclerosis 1 [RCV001166685] Chr9:132893143 [GRCh38]
Chr9:135768530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001204770] Chr9:132900834 [GRCh38]
Chr9:135776221 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001199386]|not provided [RCV001508277] Chr9:132903758 [GRCh38]
Chr9:135779145 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163671]|Tuberous sclerosis 1 [RCV001217253] Chr9:132906020 [GRCh38]
Chr9:135781407 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447103]|Tuberous sclerosis 1 [RCV001219772] Chr9:132896513 [GRCh38]
Chr9:135771900 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.507del (p.Gly170fs) deletion Tuberous sclerosis 1 [RCV001052688] Chr9:132923349 [GRCh38]
Chr9:135798736 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs) microsatellite Tuberous sclerosis 1 [RCV001232210] Chr9:132902746..132902747 [GRCh38]
Chr9:135778133..135778134 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.218T>A (p.Leu73Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001230095] Chr9:132925732 [GRCh38]
Chr9:135801119 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166459]|Tuberous sclerosis 1 [RCV001235826] Chr9:132902742 [GRCh38]
Chr9:135778129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.90A>G (p.Lys30=) single nucleotide variant Tuberous sclerosis 1 [RCV001234735] Chr9:132928783 [GRCh38]
Chr9:135804170 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val) single nucleotide variant Tuberous sclerosis 1 [RCV001220206] Chr9:132896369 [GRCh38]
Chr9:135771756 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1231C>G (p.Leu411Val) single nucleotide variant Tuberous sclerosis 1 [RCV001208848] Chr9:132910603 [GRCh38]
Chr9:135785990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2033A>T (p.His678Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014151]|Tuberous sclerosis 1 [RCV001069932] Chr9:132904419 [GRCh38]
Chr9:135779806 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.671T>C (p.Met224Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001216133] Chr9:132921429 [GRCh38]
Chr9:135796816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1868_1877del (p.Lys623fs) deletion Lymphangiomyomatosis [RCV001198651] Chr9:132905701..132905710 [GRCh38]
Chr9:135781088..135781097 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2096A>G (p.His699Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001042389] Chr9:132903763 [GRCh38]
Chr9:135779150 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010177]|Tuberous sclerosis 1 [RCV001860629] Chr9:132910639 [GRCh38]
Chr9:135786026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2214T>A (p.Asp738Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014815] Chr9:132902782 [GRCh38]
Chr9:135778169 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402568]|Tuberous sclerosis 1 [RCV001201526] Chr9:132905891 [GRCh38]
Chr9:135781278 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319654]|Tuberous sclerosis 1 [RCV001050580] Chr9:132896656 [GRCh38]
Chr9:135772043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2461G>A (p.Val821Met) single nucleotide variant Tuberous sclerosis 1 [RCV001053017] Chr9:132901630 [GRCh38]
Chr9:135777017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-3_2626-2insTTT insertion Tuberous sclerosis 1 [RCV001057187] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3034T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168420]|Tuberous sclerosis 1 [RCV001168419] Chr9:132893201 [GRCh38]
Chr9:135768588 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2924T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168421]|Tuberous sclerosis 1 [RCV001169168] Chr9:132893311 [GRCh38]
Chr9:135768698 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1349G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168587]|Tuberous sclerosis 1 [RCV001168586] Chr9:132894886 [GRCh38]
Chr9:135770273 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.863G>A (p.Arg288His) single nucleotide variant Tuberous sclerosis 1 [RCV001206492] Chr9:132912332 [GRCh38]
Chr9:135787719 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001057359] Chr9:132903715 [GRCh38]
Chr9:135779102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2628G>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168478]|Tuberous sclerosis 1 [RCV001168477] Chr9:132893607 [GRCh38]
Chr9:135768994 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001233677] Chr9:132897316 [GRCh38]
Chr9:135772703 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.914-3T>C single nucleotide variant Tuberous sclerosis 1 [RCV001205338] Chr9:132911571 [GRCh38]
Chr9:135786958 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His) single nucleotide variant Tuberous sclerosis 1 [RCV001234950] Chr9:132896438 [GRCh38]
Chr9:135771825 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447156]|Tuberous sclerosis 1 [RCV001231380] Chr9:132912339 [GRCh38]
Chr9:135787726 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429866]|Isolated focal cortical dysplasia type II [RCV003473737]|Tuberous sclerosis 1 [RCV001203070] Chr9:132900768 [GRCh38]
Chr9:135776155 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001237008] Chr9:132896593 [GRCh38]
Chr9:135771980 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1561T>C (p.Ser521Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001058048] Chr9:132906017 [GRCh38]
Chr9:135781404 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1239G>C (p.Gln413His) single nucleotide variant Tuberous sclerosis 1 [RCV001058232] Chr9:132910595 [GRCh38]
Chr9:135785982 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.4(TSC1):c.-234-1616_-234-235del1382 deletion Hereditary cancer-predisposing syndrome [RCV002445304]|Tuberous sclerosis 1 [RCV001058317] Chr9:132944868..132946249 [GRCh38]
Chr9:135820255..135821636 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1628T>G (p.Leu543Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001233176] Chr9:132905950 [GRCh38]
Chr9:135781337 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.68A>G (p.Asp23Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001234163] Chr9:132928805 [GRCh38]
Chr9:135804192 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+6G>T single nucleotide variant Tuberous sclerosis 1 [RCV001205949] Chr9:132911447 [GRCh38]
Chr9:135786834 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002436895]|Lymphangiomyomatosis [RCV002504308]|Tuberous sclerosis 1 [RCV001230625] Chr9:132911029 [GRCh38]
Chr9:135786416 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.*2558A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169209]|Tuberous sclerosis 1 [RCV001169208] Chr9:132893677 [GRCh38]
Chr9:135769064 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1251C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169353]|Tuberous sclerosis 1 [RCV001169354] Chr9:132894984 [GRCh38]
Chr9:135770371 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*806T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169427]|Tuberous sclerosis 1 [RCV001169426] Chr9:132895429 [GRCh38]
Chr9:135770816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.940A>G (p.Thr314Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001231797] Chr9:132911542 [GRCh38]
Chr9:135786929 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.663G>A (p.Lys221=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003353233]|Tuberous sclerosis 1 [RCV001231969]|not provided [RCV001760236] Chr9:132921819 [GRCh38]
Chr9:135797206 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1385T>C (p.Phe462Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011278] Chr9:132906784 [GRCh38]
Chr9:135782171 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.617A>G (p.His206Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001232506] Chr9:132921865 [GRCh38]
Chr9:135797252 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001234968] Chr9:132896294 [GRCh38]
Chr9:135771681 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.412A>G (p.Thr138Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001040378] Chr9:132923444 [GRCh38]
Chr9:135798831 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003473665]|Tuberous sclerosis 1 [RCV001058682] Chr9:132896456 [GRCh38]
Chr9:135771843 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2042-177_2266del deletion Tuberous sclerosis 1 [RCV001216170] Chr9:132902730..132903994 [GRCh38]
Chr9:135778117..135779381 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2809G>A (p.Ala937Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001217492] Chr9:132897427 [GRCh38]
Chr9:135772814 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val) single nucleotide variant Tuberous sclerosis 1 [RCV001207014] Chr9:132896273 [GRCh38]
Chr9:135771660 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1569C>T (p.Ala523=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012224]|Tuberous sclerosis 1 [RCV001499009] Chr9:132906009 [GRCh38]
Chr9:135781396 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.3311G>A (p.Cys1104Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001218165] Chr9:132896419 [GRCh38]
Chr9:135771806 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348729]|Tuberous sclerosis 1 [RCV001218373] Chr9:132921926 [GRCh38]
Chr9:135797313 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2416A>G (p.Met806Val) single nucleotide variant Tuberous sclerosis 1 [RCV001048264] Chr9:132901675 [GRCh38]
Chr9:135777062 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106G>C (p.Asp36His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256664]|Tuberous sclerosis 1 [RCV001052201] Chr9:132928767 [GRCh38]
Chr9:135804154 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003372945]|Tuberous sclerosis 1 [RCV001040683] Chr9:132910668 [GRCh38]
Chr9:135786055 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012295]|Tuberous sclerosis 1 [RCV002549365] Chr9:132905993 [GRCh38]
Chr9:135781380 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1531dup (p.Ser511fs) duplication Tuberous sclerosis 1 [RCV001250748] Chr9:132906046..132906047 [GRCh38]
Chr9:135781433..135781434 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418730]|Lymphangiomyomatosis [RCV002497727]|Tuberous sclerosis 1 [RCV001213498] Chr9:132903791 [GRCh38]
Chr9:135779178 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001230944] Chr9:132902761 [GRCh38]
Chr9:135778148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294108]|Tuberous sclerosis 1 [RCV001232734] Chr9:132897275 [GRCh38]
Chr9:135772662 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001205503] Chr9:132911001 [GRCh38]
Chr9:135786388 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1624A>T (p.Lys542Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001236469] Chr9:132905954 [GRCh38]
Chr9:135781341 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2880G>A (p.Leu960=) single nucleotide variant Tuberous sclerosis 1 [RCV001038241] Chr9:132897279 [GRCh38]
Chr9:135772666 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012843]|Tuberous sclerosis 1 [RCV001223997] Chr9:132905858 [GRCh38]
Chr9:135781245 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012848]|Tuberous sclerosis 1 [RCV001049618] Chr9:132905857 [GRCh38]
Chr9:135781244 [GRCh37]
Chr9:9q34.13		 conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.*2724C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166239]|Tuberous sclerosis 1 [RCV001166762] Chr9:132893511 [GRCh38]
Chr9:135768898 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001211307] Chr9:132906140 [GRCh38]
Chr9:135781527 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411802]|Tuberous sclerosis 1 [RCV001216958] Chr9:132910582 [GRCh38]
Chr9:135785969 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1182TCC[6] (p.Pro395_Pro397dup) microsatellite Tuberous sclerosis 1 [RCV001041248] Chr9:132910643..132910644 [GRCh38]
Chr9:135786030..135786031 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013107]|Tuberous sclerosis 1 [RCV001344396]|not provided [RCV001766831] Chr9:132905801 [GRCh38]
Chr9:135781188 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.485CAT[1] (p.Ser163del) microsatellite Hereditary cancer-predisposing syndrome [RCV001023196] Chr9:132923366..132923368 [GRCh38]
Chr9:135798753..135798755 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.641A>G (p.Glu214Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307817]|Tuberous sclerosis 1 [RCV001039602] Chr9:132921841 [GRCh38]
Chr9:135797228 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.949C>T (p.Leu317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019410]|Tuberous sclerosis 1 [RCV003614071] Chr9:132911533 [GRCh38]
Chr9:135786920 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1885A>C (p.Lys629Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013535] Chr9:132905693 [GRCh38]
Chr9:135781080 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg) insertion Tuberous sclerosis 1 [RCV001039880] Chr9:132923477..132923478 [GRCh38]
Chr9:135798864..135798865 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307873]|Tuberous sclerosis 1 [RCV001054097] Chr9:132923365 [GRCh38]
Chr9:135798752 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001199385] Chr9:132905582 [GRCh38]
Chr9:135780969 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400213]|Tuberous sclerosis 1 [RCV001035719] Chr9:132905910 [GRCh38]
Chr9:135781297 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001071789]|not provided [RCV002307679] Chr9:132907307 [GRCh38]
Chr9:135782694 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001064462] Chr9:132903764 [GRCh38]
Chr9:135779151 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1334-3C>T single nucleotide variant Tuberous sclerosis 1 [RCV001064570] Chr9:132906838 [GRCh38]
Chr9:135782225 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014317]|Isolated focal cortical dysplasia type II [RCV003473572]|Tuberous sclerosis 1 [RCV001299229] Chr9:132903742 [GRCh38]
Chr9:135779129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2109C>T (p.Leu703=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014456]|Tuberous sclerosis 1 [RCV002551771] Chr9:132903750 [GRCh38]
Chr9:135779137 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2276C>G (p.Ala759Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014871] Chr9:132902720 [GRCh38]
Chr9:135778107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2297A>G (p.Glu766Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015049] Chr9:132902699 [GRCh38]
Chr9:135778086 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015096]|Tuberous sclerosis 1 [RCV001313253] Chr9:132902698 [GRCh38]
Chr9:135778085 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.391A>T (p.Thr131Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001212717] Chr9:132923465 [GRCh38]
Chr9:135798852 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001036653] Chr9:132896743 [GRCh38]
Chr9:135772130 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015564]|Tuberous sclerosis 1 [RCV001372596] Chr9:132901647 [GRCh38]
Chr9:135777034 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015735]|Tuberous sclerosis 1 [RCV001413351] Chr9:132900841 [GRCh38]
Chr9:135776228 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015743]|not provided [RCV003442145] Chr9:132900826 [GRCh38]
Chr9:135776213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001055534] Chr9:132905656 [GRCh38]
Chr9:135781043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3045A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168417]|Tuberous sclerosis 1 [RCV001168418] Chr9:132893190 [GRCh38]
Chr9:135768577 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.776G>A (p.Cys259Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001213093] Chr9:132912419 [GRCh38]
Chr9:135787806 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*936T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168663]|Tuberous sclerosis 1 [RCV001168662] Chr9:132895299 [GRCh38]
Chr9:135770686 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*289T>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168722]|Tuberous sclerosis 1 [RCV001168723] Chr9:132895946 [GRCh38]
Chr9:135771333 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016477]|Tuberous sclerosis 1 [RCV001441712]|not provided [RCV001675980] Chr9:132897488 [GRCh38]
Chr9:135772875 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016623]|Tuberous sclerosis 1 [RCV002550819] Chr9:132897440 [GRCh38]
Chr9:135772827 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016672]|Tuberous sclerosis 1 [RCV001250431]|Tuberous sclerosis syndrome [RCV002307655] Chr9:132897341 [GRCh38]
Chr9:135772728 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447050]|Tuberous sclerosis 1 [RCV001202359] Chr9:132912317 [GRCh38]
Chr9:135787704 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001037311] Chr9:132897212 [GRCh38]
Chr9:135772599 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1681A>C (p.Ser561Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001232802] Chr9:132905897 [GRCh38]
Chr9:135781284 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010890]|Tuberous sclerosis 1 [RCV003614063] Chr9:132927281 [GRCh38]
Chr9:135802668 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.291A>G (p.Ile97Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016931]|Tuberous sclerosis 1 [RCV003988858] Chr9:132925659 [GRCh38]
Chr9:135801046 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1252C>T (p.Pro418Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001228436] Chr9:132910582 [GRCh38]
Chr9:135785969 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.12:g.(?_132928757)_(132928952_?)dup duplication Tuberous sclerosis 1 [RCV001033163] Chr9:135804144..135804339 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+2_363+5del deletion Tuberous sclerosis 1 [RCV001047596] Chr9:132925582..132925585 [GRCh38]
Chr9:135800969..135800972 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.*2515T>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169210]|Tuberous sclerosis 1 [RCV001169211] Chr9:132893720 [GRCh38]
Chr9:135769107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017411]|Tuberous sclerosis 1 [RCV001873295] Chr9:132911016 [GRCh38]
Chr9:135786403 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017566]|Tuberous sclerosis 1 [RCV001318587] Chr9:132897226 [GRCh38]
Chr9:135772613 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*249G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001169491]|Tuberous sclerosis 1 [RCV001169490] Chr9:132895986 [GRCh38]
Chr9:135771373 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1403C>T (p.Ser468Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001216438] Chr9:132906766 [GRCh38]
Chr9:135782153 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018061]|Tuberous sclerosis 1 [RCV001229131] Chr9:132896717 [GRCh38]
Chr9:135772104 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter) single nucleotide variant Seizure [RCV002287460]|Tuberous sclerosis 1 [RCV001042216]|not provided [RCV002462271] Chr9:132912382 [GRCh38]
Chr9:135787769 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001214291]|not provided [RCV001773478] Chr9:132906766 [GRCh38]
Chr9:135782153 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1582G>T (p.Gly528Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001215718] Chr9:132905996 [GRCh38]
Chr9:135781383 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.874G>A (p.Val292Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018271]|Tuberous sclerosis 1 [RCV001068993] Chr9:132912321 [GRCh38]
Chr9:135787708 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.882C>T (p.Thr294=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018381]|Tuberous sclerosis 1 [RCV001392812] Chr9:132912313 [GRCh38]
Chr9:135787700 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411780]|Tuberous sclerosis 1 [RCV001211984] Chr9:132905843 [GRCh38]
Chr9:135781230 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451550]|Isolated focal cortical dysplasia type II [RCV003473797]|Tuberous sclerosis 1 [RCV001231886] Chr9:132897510 [GRCh38]
Chr9:135772897 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402582]|Isolated focal cortical dysplasia type II [RCV003473742]|Tuberous sclerosis 1 [RCV001204051] Chr9:132928763 [GRCh38]
Chr9:135804150 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.660C>T (p.Val220=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025452]|Tuberous sclerosis 1 [RCV001458671] Chr9:132921822 [GRCh38]
Chr9:135797209 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1604C>T (p.Pro535Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012344] Chr9:132905974 [GRCh38]
Chr9:135781361 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1573A>G (p.Ser525Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001063272] Chr9:132906005 [GRCh38]
Chr9:135781392 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1127C>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166417]|Tuberous sclerosis 1 [RCV001166418] Chr9:132895108 [GRCh38]
Chr9:135770495 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.862C>G (p.Arg288Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001214807] Chr9:132912333 [GRCh38]
Chr9:135787720 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001214809] Chr9:132897311 [GRCh38]
Chr9:135772698 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012508]|Tuberous sclerosis 1 [RCV001860713] Chr9:132905935 [GRCh38]
Chr9:135781322 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.696A>G (p.Glu232=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025850]|Tuberous sclerosis 1 [RCV001493642] Chr9:132921404 [GRCh38]
Chr9:135796791 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.1688A>G (p.Asp563Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012714] Chr9:132905890 [GRCh38]
Chr9:135781277 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1581G>C (p.Gln527His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160581]|Tuberous sclerosis 1 [RCV001070616] Chr9:132905997 [GRCh38]
Chr9:135781384 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.322T>C (p.Ser108Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001053146] Chr9:132925628 [GRCh38]
Chr9:135801015 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445329]|Lymphangiomyomatosis [RCV002479373]|Tuberous sclerosis 1 [RCV001063459]|not specified [RCV003155351] Chr9:132911017 [GRCh38]
Chr9:135786404 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.235T>C (p.Tyr79His) single nucleotide variant Tuberous sclerosis 1 [RCV001063642] Chr9:132925715 [GRCh38]
Chr9:135801102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1972A>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV001168528]|Tuberous sclerosis 1 [RCV001166813] Chr9:132894263 [GRCh38]
Chr9:135769650 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*1474G>A single nucleotide variant Isolated focal cortical dysplasia type II [RCV001166871]|Tuberous sclerosis 1 [RCV001166870] Chr9:132894761 [GRCh38]
Chr9:135770148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1610A>G (p.His537Arg) single nucleotide variant not provided [RCV001090690] Chr9:132905968 [GRCh38]
Chr9:135781355 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1849C>T (p.His617Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001211927] Chr9:132905729 [GRCh38]
Chr9:135781116 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.431C>A (p.Pro144Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001070910] Chr9:132923425 [GRCh38]
Chr9:135798812 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001211168] Chr9:132905639 [GRCh38]
Chr9:135781026 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.731del (p.Pro244fs) deletion Tuberous sclerosis 1 [RCV001253123] Chr9:132921369 [GRCh38]
Chr9:135796756 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.392C>G (p.Thr131Arg) single nucleotide variant Isolated focal cortical dysplasia type II [RCV001253515] Chr9:132923464 [GRCh38]
Chr9:135798851 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.-144+134G>T single nucleotide variant Tuberous sclerosis 1 [RCV001254672]|not provided [RCV003433096] Chr9:132944409 [GRCh38]
Chr9:135819796 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322204]|Tuberous sclerosis 1 [RCV001304357] Chr9:132896638 [GRCh38]
Chr9:135772025 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001348512] Chr9:132900728 [GRCh38]
Chr9:135776115 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001328534] Chr9:132907310 [GRCh38]
Chr9:135782697 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001258197] Chr9:132905687 [GRCh38]
Chr9:135781074 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418916]|Tuberous sclerosis 1 [RCV001302483] Chr9:132903740 [GRCh38]
Chr9:135779127 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771612)_(135778184_?)dup duplication Tuberous sclerosis 1 [RCV001294969] Chr9:135771612..135778184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+240_2392-319del deletion Tuberous sclerosis 1 [RCV001257303] Chr9:132902018..132904171 [GRCh38]
Chr9:135777405..135779558 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2209-258_2502+101del deletion Tuberous sclerosis 1 [RCV001257302] Chr9:132901488..132903045 [GRCh38]
Chr9:135776875..135778432 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169714]|Tuberous sclerosis 1 [RCV001348938]|not provided [RCV003232326]|not specified [RCV002246327] Chr9:132911014 [GRCh38]
Chr9:135786401 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.424A>G (p.Met142Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327657]|Tuberous sclerosis 1 [RCV001302740] Chr9:132923432 [GRCh38]
Chr9:135798819 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.211-286T>C single nucleotide variant not provided [RCV001575472] Chr9:132926025 [GRCh38]
Chr9:135801412 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1765C>T (p.Pro589Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001300322] Chr9:132905813 [GRCh38]
Chr9:135781200 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002411948]|Tuberous sclerosis 1 [RCV001297447] Chr9:132905756 [GRCh38]
Chr9:135781143 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.947G>T (p.Arg316Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001298562] Chr9:132911535 [GRCh38]
Chr9:135786922 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2117G>C (p.Arg706Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001309920] Chr9:132903742 [GRCh38]
Chr9:135779129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447352]|Tuberous sclerosis 1 [RCV001319069] Chr9:132896525 [GRCh38]
Chr9:135771912 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418885]|Tuberous sclerosis 1 [RCV001295303] Chr9:132911064 [GRCh38]
Chr9:135786451 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.720T>G (p.His240Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258188]|Tuberous sclerosis 1 [RCV001301461] Chr9:132921380 [GRCh38]
Chr9:135796767 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339713]|not provided [RCV001288893] Chr9:132923371 [GRCh38]
Chr9:135798758 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001352605] Chr9:132897439 [GRCh38]
Chr9:135772826 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412031]|Tuberous sclerosis 1 [RCV001320263] Chr9:132912339 [GRCh38]
Chr9:135787726 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375351]|Tuberous sclerosis 1 [RCV001299029]|not provided [RCV001796430] Chr9:132912303 [GRCh38]
Chr9:135787690 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166736]|Tuberous sclerosis 1 [RCV001305812] Chr9:132900828 [GRCh38]
Chr9:135776215 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.814G>A (p.Glu272Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001290132] Chr9:132912381 [GRCh38]
Chr9:135787768 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.935A>G (p.Tyr312Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001320524] Chr9:132911547 [GRCh38]
Chr9:135786934 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431961]|Tuberous sclerosis 1 [RCV001342550] Chr9:132900726 [GRCh38]
Chr9:135776113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447405]|Tuberous sclerosis 1 [RCV001342614] Chr9:132902696 [GRCh38]
Chr9:135778083 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.859C>T (p.His287Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001320665] Chr9:132912336 [GRCh38]
Chr9:135787723 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001325473]|not provided [RCV003238348] Chr9:132903773 [GRCh38]
Chr9:135779160 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438727]|Tuberous sclerosis 1 [RCV001319878] Chr9:132897320 [GRCh38]
Chr9:135772707 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447273]|Tuberous sclerosis 1 [RCV001297990] Chr9:132912314 [GRCh38]
Chr9:135787701 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001340174] Chr9:132903737 [GRCh38]
Chr9:135779124 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030G>T (p.Ala344Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001325475] Chr9:132911113 [GRCh38]
Chr9:135786500 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1591G>T (p.Val531Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001315349] Chr9:132905987 [GRCh38]
Chr9:135781374 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169612]|Tuberous sclerosis 1 [RCV001340263] Chr9:132928778 [GRCh38]
Chr9:135804165 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294381]|Tuberous sclerosis 1 [RCV001351063] Chr9:132896467 [GRCh38]
Chr9:135771854 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1252C>A (p.Pro418Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001342107] Chr9:132910582 [GRCh38]
Chr9:135785969 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1157C>A (p.Thr386Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001327764] Chr9:132910677 [GRCh38]
Chr9:135786064 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.421C>G (p.Pro141Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001314874] Chr9:132923435 [GRCh38]
Chr9:135798822 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1255C>T (p.Pro419Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001343140] Chr9:132910579 [GRCh38]
Chr9:135785966 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437015]|Isolated focal cortical dysplasia type II [RCV003473849]|Tuberous sclerosis 1 [RCV001299152] Chr9:132897329 [GRCh38]
Chr9:135772716 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001339943] Chr9:132901620 [GRCh38]
Chr9:135777007 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+5G>A single nucleotide variant Tuberous sclerosis 1 [RCV001303235] Chr9:132910997 [GRCh38]
Chr9:135786384 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447410]|Tuberous sclerosis 1 [RCV001343248]|not provided [RCV001773685] Chr9:132902657 [GRCh38]
Chr9:135778044 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter) indel not provided [RCV001663815] Chr9:132906008..132906009 [GRCh38]
Chr9:135781395..135781396 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001306681] Chr9:132901646 [GRCh38]
Chr9:135777033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438743]|Isolated focal cortical dysplasia type II [RCV003473861]|Tuberous sclerosis 1 [RCV001324840]|not provided [RCV003151853] Chr9:132896746 [GRCh38]
Chr9:135772133 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2980G>C (p.Asp994His) single nucleotide variant Tuberous sclerosis 1 [RCV001309026] Chr9:132896750 [GRCh38]
Chr9:135772137 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001295441] Chr9:132905582 [GRCh38]
Chr9:135780969 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1005dup (p.Arg336fs) duplication Tuberous sclerosis 1 [RCV001808009] Chr9:132911476..132911477 [GRCh38]
Chr9:135786863..135786864 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001303839] Chr9:132896543 [GRCh38]
Chr9:135771930 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1210G>T (p.Asp404Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001343685] Chr9:132910624 [GRCh38]
Chr9:135786011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135820255)_135821636del deletion Tuberous sclerosis 1 [RCV001294967]   uncertain significance
NM_000368.5(TSC1):c.579A>T (p.Gly193=) single nucleotide variant Tuberous sclerosis 1 [RCV001315460] Chr9:132921903 [GRCh38]
Chr9:135797290 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001326373] Chr9:132905702 [GRCh38]
Chr9:135781089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264G>A (p.Glu422Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001337789] Chr9:132907370 [GRCh38]
Chr9:135782757 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.984G>A (p.Gln328=) single nucleotide variant Tuberous sclerosis 1 [RCV001392818] Chr9:132911498 [GRCh38]
Chr9:135786885 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.535C>T (p.His179Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001298591] Chr9:132921947 [GRCh38]
Chr9:135797334 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169817]|Tuberous sclerosis 1 [RCV001363060] Chr9:132897250 [GRCh38]
Chr9:135772637 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1184C>T (p.Pro395Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001350438] Chr9:132910650 [GRCh38]
Chr9:135786037 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.903dup (p.Asn302fs) duplication not provided [RCV001311801] Chr9:132912291..132912292 [GRCh38]
Chr9:135787678..135787679 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001325094] Chr9:132896504 [GRCh38]
Chr9:135771891 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2040A>C (p.Gly680=) single nucleotide variant Tuberous sclerosis 1 [RCV001372451] Chr9:132904412 [GRCh38]
Chr9:135779799 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432053]|Isolated focal cortical dysplasia type II [RCV003473891]|Tuberous sclerosis 1 [RCV001374143] Chr9:132903677 [GRCh38]
Chr9:135779064 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456557]|Tuberous sclerosis 1 [RCV001363222] Chr9:132896255 [GRCh38]
Chr9:135771642 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.452T>G (p.Leu151Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001363272] Chr9:132923404 [GRCh38]
Chr9:135798791 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2016G>A (p.Lys672=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355453]|Tuberous sclerosis 1 [RCV001395006] Chr9:132904436 [GRCh38]
Chr9:135779823 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2218T>C (p.Leu740=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420977]|Tuberous sclerosis 1 [RCV001433167] Chr9:132902778 [GRCh38]
Chr9:135778165 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+3A>G single nucleotide variant Tuberous sclerosis 1 [RCV001325259] Chr9:132912279 [GRCh38]
Chr9:135787666 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001352604] Chr9:132900715 [GRCh38]
Chr9:135776102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3399G>A (p.Leu1133=) single nucleotide variant Tuberous sclerosis 1 [RCV001412846] Chr9:132896331 [GRCh38]
Chr9:135771718 [GRCh37]
Chr9:9q34.13		 likely benign
NM_001162426.2(TSC1):c.2623-4_2623-3insTG insertion Tuberous sclerosis 1 [RCV001368762] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001281332] Chr9:132925672 [GRCh38]
Chr9:135801059 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256735]|Tuberous sclerosis 1 [RCV001305621] Chr9:132912368 [GRCh38]
Chr9:135787755 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438865]|Tuberous sclerosis 1 [RCV001369947] Chr9:132925661 [GRCh38]
Chr9:135801048 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.217T>C (p.Leu73=) single nucleotide variant Lymphangiomyomatosis [RCV002499823]|Tuberous sclerosis 1 [RCV001391740] Chr9:132925733 [GRCh38]
Chr9:135801120 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=) single nucleotide variant Tuberous sclerosis 1 [RCV001392363] Chr9:132896412 [GRCh38]
Chr9:135771799 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys) single nucleotide variant Lymphangiomyomatosis [RCV002499724]|Tuberous sclerosis 1 [RCV001359319] Chr9:132896645 [GRCh38]
Chr9:135772032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258241]|Tuberous sclerosis 1 [RCV001422371]|not provided [RCV001773749] Chr9:132903756 [GRCh38]
Chr9:135779143 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000368.5(TSC1):c.364-10T>C single nucleotide variant Tuberous sclerosis 1 [RCV001397417] Chr9:132923502 [GRCh38]
Chr9:135798889 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+9T>C single nucleotide variant Tuberous sclerosis 1 [RCV001397241] Chr9:132927192 [GRCh38]
Chr9:135802579 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1574G>A (p.Ser525Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001296262] Chr9:132906004 [GRCh38]
Chr9:135781391 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu) single nucleotide variant Lymphangiomyomatosis [RCV002493882]|Tuberous sclerosis 1 [RCV001369075] Chr9:132900813 [GRCh38]
Chr9:135776200 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.343del (p.Ser115fs) deletion Tuberous sclerosis 1 [RCV001382616] Chr9:132925607 [GRCh38]
Chr9:135800994 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432010]|Tuberous sclerosis 1 [RCV001359640] Chr9:132902761 [GRCh38]
Chr9:135778148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001360188] Chr9:132896305 [GRCh38]
Chr9:135771692 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2146A>C (p.Asn716His) single nucleotide variant Tuberous sclerosis 1 [RCV001359646] Chr9:132903713 [GRCh38]
Chr9:135779100 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1125A>T (p.Lys375Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001371333] Chr9:132911018 [GRCh38]
Chr9:135786405 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001371375] Chr9:132896409 [GRCh38]
Chr9:135771796 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.482T>C (p.Leu161Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001294832] Chr9:132923374 [GRCh38]
Chr9:135798761 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NM_000368.5(TSC1):c.2841G>A (p.Arg947=) single nucleotide variant Tuberous sclerosis 1 [RCV001414645] Chr9:132897318 [GRCh38]
Chr9:135772705 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+10G>A single nucleotide variant Tuberous sclerosis 1 [RCV001397282] Chr9:132906721 [GRCh38]
Chr9:135782108 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166782]|Lymphangiomyomatosis [RCV002504479]|Tuberous sclerosis 1 [RCV001312966] Chr9:132896472 [GRCh38]
Chr9:135771859 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.955T>G (p.Leu319Val) single nucleotide variant Tuberous sclerosis 1 [RCV001325980] Chr9:132911527 [GRCh38]
Chr9:135786914 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001296630] Chr9:132911467 [GRCh38]
Chr9:135786854 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NC_000009.11:g.(?_135819930)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV001294968] Chr9:135819930..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420835]|Tuberous sclerosis 1 [RCV001371538] Chr9:132904449 [GRCh38]
Chr9:135779836 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.637C>G (p.Leu213Val) single nucleotide variant Tuberous sclerosis 1 [RCV001362735] Chr9:132921845 [GRCh38]
Chr9:135797232 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1470C>A (p.Thr490=) single nucleotide variant Tuberous sclerosis 1 [RCV001423160] Chr9:132906108 [GRCh38]
Chr9:135781495 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met) single nucleotide variant Tuberous sclerosis 1 [RCV001337430] Chr9:132896351 [GRCh38]
Chr9:135771738 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.28C>A (p.Leu10Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001351635] Chr9:132928845 [GRCh38]
Chr9:135804232 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.680T>A (p.Val227Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001371745] Chr9:132921420 [GRCh38]
Chr9:135796807 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.39G>A (p.Met13Ile) single nucleotide variant Lymphangiomyomatosis [RCV002488173]|Tuberous sclerosis 1 [RCV001371801] Chr9:132928834 [GRCh38]
Chr9:135804221 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val) single nucleotide variant Tuberous sclerosis 1 [RCV001373814] Chr9:132896449 [GRCh38]
Chr9:135771836 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169921]|Tuberous sclerosis 1 [RCV001373161] Chr9:132896308 [GRCh38]
Chr9:135771695 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1120A>G (p.Ser374Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001373213] Chr9:132911023 [GRCh38]
Chr9:135786410 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.206A>G (p.Asp69Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001346381] Chr9:132927205 [GRCh38]
Chr9:135802592 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.276A>C (p.Leu92Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001351759] Chr9:132925674 [GRCh38]
Chr9:135801061 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357085]|Lymphangiomyomatosis [RCV002486131]|Tuberous sclerosis 1 [RCV001296824] Chr9:132928868 [GRCh38]
Chr9:135804255 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1813G>C (p.Asp605His) single nucleotide variant Tuberous sclerosis 1 [RCV001337561] Chr9:132905765 [GRCh38]
Chr9:135781152 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.622A>C (p.Ser208Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366176]|Tuberous sclerosis 1 [RCV001318506] Chr9:132921860 [GRCh38]
Chr9:135797247 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001344700] Chr9:132903716 [GRCh38]
Chr9:135779103 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447418]|Tuberous sclerosis 1 [RCV001346442] Chr9:132901641 [GRCh38]
Chr9:135777028 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357251]|Tuberous sclerosis 1 [RCV001368315] Chr9:132928815 [GRCh38]
Chr9:135804202 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001368469] Chr9:132900764 [GRCh38]
Chr9:135776151 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1153G>A (p.Gly385Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001364749] Chr9:132910681 [GRCh38]
Chr9:135786068 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001305453] Chr9:132897199 [GRCh38]
Chr9:135772586 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.932C>A (p.Pro311His) single nucleotide variant Tuberous sclerosis 1 [RCV001322882] Chr9:132911550 [GRCh38]
Chr9:135786937 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-6T>G single nucleotide variant Tuberous sclerosis 1 [RCV001346595] Chr9:132906145 [GRCh38]
Chr9:135781532 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-10A>G single nucleotide variant TSC1-related condition [RCV003405520]|Tuberous sclerosis 1 [RCV001303491] Chr9:132921446 [GRCh38]
Chr9:135796833 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1483G>A (p.Glu495Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001327304] Chr9:132906095 [GRCh38]
Chr9:135781482 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001300060] Chr9:132896668 [GRCh38]
Chr9:135772055 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001369877] Chr9:132897483 [GRCh38]
Chr9:135772870 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001365112] Chr9:132896482 [GRCh38]
Chr9:135771869 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.887C>T (p.Pro296Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001337938] Chr9:132912308 [GRCh38]
Chr9:135787695 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166896]|Tuberous sclerosis 1 [RCV001324093] Chr9:132910641 [GRCh38]
Chr9:135786028 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1663A>G (p.Ile555Val) single nucleotide variant Tuberous sclerosis 1 [RCV001372068] Chr9:132905915 [GRCh38]
Chr9:135781302 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135777972)_(135782777_?)del deletion Tuberous sclerosis 1 [RCV001373914] Chr9:135777972..135782777 [GRCh37]
Chr9:9q34.13		 pathogenic|uncertain significance
NC_000009.11:g.(?_135810420)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV001373915] Chr9:135810420..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+6A>T single nucleotide variant Tuberous sclerosis 1 [RCV001365193] Chr9:132925581 [GRCh38]
Chr9:135800968 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001365254] Chr9:132902675 [GRCh38]
Chr9:135778062 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.542A>T (p.His181Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169535]|Tuberous sclerosis 1 [RCV001326739]|not provided [RCV003232305] Chr9:132921940 [GRCh38]
Chr9:135797327 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001307609] Chr9:132905653 [GRCh38]
Chr9:135781040 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1523A>G (p.Tyr508Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001322041] Chr9:132906055 [GRCh38]
Chr9:135781442 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.734G>C (p.Arg245Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001347024] Chr9:132921366 [GRCh38]
Chr9:135796753 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322330]|Tuberous sclerosis 1 [RCV001363078] Chr9:132896629 [GRCh38]
Chr9:135772016 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.118A>G (p.Met40Val) single nucleotide variant Tuberous sclerosis 1 [RCV001368550] Chr9:132927293 [GRCh38]
Chr9:135802680 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166898]|Tuberous sclerosis 1 [RCV001324235] Chr9:132911076 [GRCh38]
Chr9:135786463 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1058G>C (p.Cys353Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001372356] Chr9:132911085 [GRCh38]
Chr9:135786472 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1391G>A (p.Gly464Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001314868] Chr9:132906778 [GRCh38]
Chr9:135782165 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2691G>T (p.Gln897His) single nucleotide variant Tuberous sclerosis 1 [RCV001341064] Chr9:132897545 [GRCh38]
Chr9:135772932 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001310016] Chr9:132901611 [GRCh38]
Chr9:135776998 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.581T>G (p.Met194Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001319084] Chr9:132921901 [GRCh38]
Chr9:135797288 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.730C>A (p.Pro244Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001346161] Chr9:132921370 [GRCh38]
Chr9:135796757 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val) single nucleotide variant Tuberous sclerosis 1 [RCV001324337] Chr9:132896353 [GRCh38]
Chr9:135771740 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.560T>A (p.Leu187His) single nucleotide variant Tuberous sclerosis 1 [RCV001363233] Chr9:132921922 [GRCh38]
Chr9:135797309 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001327736] Chr9:132896276 [GRCh38]
Chr9:135771663 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001327758] Chr9:132903782 [GRCh38]
Chr9:135779169 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169608]|Tuberous sclerosis 1 [RCV001339923] Chr9:132896453 [GRCh38]
Chr9:135771840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2931del (p.Lys977fs) deletion Tuberous sclerosis 1 [RCV001322287] Chr9:132897228 [GRCh38]
Chr9:135772615 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771612)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV001322293] Chr9:135771612..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135804144)_(135804339_?)dup duplication Tuberous sclerosis 1 [RCV001322294] Chr9:135804144..135804339 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771622)_(135810482_?)dup duplication Tuberous sclerosis 1 [RCV001322295] Chr9:135771622..135810482 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.210G>C (p.Lys70Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001324380] Chr9:132927201 [GRCh38]
Chr9:135802588 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1817A>C (p.His606Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001297539] Chr9:132905761 [GRCh38]
Chr9:135781148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2609A>G (p.His870Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001307916] Chr9:132900731 [GRCh38]
Chr9:135776118 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.257G>A (p.Arg86His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003169659]|Tuberous sclerosis 1 [RCV001344279] Chr9:132925693 [GRCh38]
Chr9:135801080 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3298A>T (p.Ser1100Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001323403] Chr9:132896432 [GRCh38]
Chr9:135771819 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001345309] Chr9:132905667 [GRCh38]
Chr9:135781054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001370144] Chr9:132902727 [GRCh38]
Chr9:135778114 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001308000] Chr9:132905690 [GRCh38]
Chr9:135781077 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+6G>A single nucleotide variant Tuberous sclerosis 1 [RCV001344343] Chr9:132904405 [GRCh38]
Chr9:135779792 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107A>T (p.Asp36Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375242]|Tuberous sclerosis 1 [RCV001347765] Chr9:132927304 [GRCh38]
Chr9:135802691 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447486]|Lymphangiomyomatosis [RCV002504619]|Tuberous sclerosis 1 [RCV001370391] Chr9:132901637 [GRCh38]
Chr9:135777024 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2999G>A (p.Cys1000Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001342983] Chr9:132896731 [GRCh38]
Chr9:135772118 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2301G>T (p.Gln767His) single nucleotide variant Tuberous sclerosis 1 [RCV001322505] Chr9:132902695 [GRCh38]
Chr9:135778082 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364A>G (p.Met122Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456524]|Tuberous sclerosis 1 [RCV001350514] Chr9:132923492 [GRCh38]
Chr9:135798879 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001314212] Chr9:132897340 [GRCh38]
Chr9:135772727 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.932C>T (p.Pro311Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001314219] Chr9:132911550 [GRCh38]
Chr9:135786937 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001325047] Chr9:132904434 [GRCh38]
Chr9:135779821 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1039T>G (p.Trp347Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001339329] Chr9:132911104 [GRCh38]
Chr9:135786491 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val) single nucleotide variant Tuberous sclerosis 1 [RCV001299562] Chr9:132902726 [GRCh38]
Chr9:135778113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1183C>T (p.Pro395Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001321166] Chr9:132910651 [GRCh38]
Chr9:135786038 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1358C>T (p.Ser453Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001345505]|not provided [RCV001724299] Chr9:132906811 [GRCh38]
Chr9:135782198 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001363694] Chr9:132896753 [GRCh38]
Chr9:135772140 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432043]|Tuberous sclerosis 1 [RCV001370930] Chr9:132900825 [GRCh38]
Chr9:135776212 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.325C>G (p.Gln109Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001321249] Chr9:132925625 [GRCh38]
Chr9:135801012 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256743]|Tuberous sclerosis 1 [RCV001322625] Chr9:132896507 [GRCh38]
Chr9:135771894 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+3T>C single nucleotide variant Tuberous sclerosis 1 [RCV001345551] Chr9:132928764 [GRCh38]
Chr9:135804151 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2034C>G (p.His678Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001348195] Chr9:132904418 [GRCh38]
Chr9:135779805 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294279]|Isolated focal cortical dysplasia type II [RCV003469542]|Tuberous sclerosis 1 [RCV001319670] Chr9:132925703 [GRCh38]
Chr9:135801090 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.323C>G (p.Ser108Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001343332] Chr9:132925627 [GRCh38]
Chr9:135801014 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.934T>C (p.Tyr312His) single nucleotide variant Tuberous sclerosis 1 [RCV001346269] Chr9:132911548 [GRCh38]
Chr9:135786935 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.883A>T (p.Ser295Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001363932] Chr9:132912312 [GRCh38]
Chr9:135787699 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2565T>A (p.Leu855=) single nucleotide variant Tuberous sclerosis 1 [RCV001339634] Chr9:132900775 [GRCh38]
Chr9:135776162 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431948]|Tuberous sclerosis 1 [RCV001339668] Chr9:132925729 [GRCh38]
Chr9:135801116 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001308776] Chr9:132896680 [GRCh38]
Chr9:135772067 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001370708] Chr9:132897238 [GRCh38]
Chr9:135772625 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3]) duplication Tuberous sclerosis 1 [RCV001359878] Chr9:132897192..132897193 [GRCh38]
Chr9:135772579..135772580 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val) single nucleotide variant Lymphangiomyomatosis [RCV002486503]|Tuberous sclerosis 1 [RCV001359955] Chr9:132896270 [GRCh38]
Chr9:135771657 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1527A>C (p.Arg509=) single nucleotide variant Tuberous sclerosis 1 [RCV001421308] Chr9:132906051 [GRCh38]
Chr9:135781438 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.363+667A>T single nucleotide variant not provided [RCV001311802] Chr9:132924920 [GRCh38]
Chr9:135800307 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.317A>G (p.Lys106Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001305426] Chr9:132925633 [GRCh38]
Chr9:135801020 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350617]|Tuberous sclerosis 1 [RCV001340046] Chr9:132910683 [GRCh38]
Chr9:135786070 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr) inversion Tuberous sclerosis 1 [RCV001395453] Chr9:132911516..132911517 [GRCh38]
Chr9:135786903..135786904 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.314A>C (p.His105Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255655]|Tuberous sclerosis 1 [RCV001371189] Chr9:132925636 [GRCh38]
Chr9:135801023 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3128_3129insAGCAGC (p.Ser1043delinsArgAlaAla) insertion none provided [RCV001286270] Chr9:132896601..132896602 [GRCh38]
Chr9:135771988..135771989 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.286G>C (p.Val96Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438829]|Tuberous sclerosis 1 [RCV001359439] Chr9:132925664 [GRCh38]
Chr9:135801051 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1872T>C (p.Thr624=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413988]|Tuberous sclerosis 1 [RCV001413924] Chr9:132905706 [GRCh38]
Chr9:135781093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1235C>T (p.Pro412Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001326477]|not provided [RCV003433113] Chr9:132910599 [GRCh38]
Chr9:135785986 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438724]|Tuberous sclerosis 1 [RCV001318932] Chr9:132897227 [GRCh38]
Chr9:135772614 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001307595] Chr9:132904439 [GRCh38]
Chr9:135779826 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256739]|Isolated focal cortical dysplasia type II [RCV003462888]|Tuberous sclerosis 1 [RCV001316679] Chr9:132910648 [GRCh38]
Chr9:135786035 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001296291] Chr9:132897599 [GRCh38]
Chr9:135772986 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1998-7T>G single nucleotide variant Tuberous sclerosis 1 [RCV001395734] Chr9:132904461 [GRCh38]
Chr9:135779848 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456393]|Isolated focal cortical dysplasia type II [RCV003462877]|Tuberous sclerosis 1 [RCV001307289] Chr9:132896315 [GRCh38]
Chr9:135771702 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322271]|Tuberous sclerosis 1 [RCV001338499] Chr9:132896606 [GRCh38]
Chr9:135771993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.667A>G (p.Met223Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368201]|TSC1-related condition [RCV003399180]|Tuberous sclerosis 1 [RCV001371743] Chr9:132921433 [GRCh38]
Chr9:135796820 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.597C>G (p.Phe199Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001359125] Chr9:132921885 [GRCh38]
Chr9:135797272 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508+6G>C single nucleotide variant Tuberous sclerosis 1 [RCV001316281] Chr9:132923342 [GRCh38]
Chr9:135798729 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.967C>A (p.Pro323Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001361088] Chr9:132911515 [GRCh38]
Chr9:135786902 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1768C>T (p.Pro590Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001370337] Chr9:132905810 [GRCh38]
Chr9:135781197 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003462884]|Tuberous sclerosis 1 [RCV001312548] Chr9:132912350 [GRCh38]
Chr9:135787737 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001315079] Chr9:132903698 [GRCh38]
Chr9:135779085 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-5T>C single nucleotide variant Tuberous sclerosis 1 [RCV001413695] Chr9:132921978 [GRCh38]
Chr9:135797365 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1582G>A (p.Gly528Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001294821] Chr9:132905996 [GRCh38]
Chr9:135781383 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1306C>T (p.His436Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001358845] Chr9:132907328 [GRCh38]
Chr9:135782715 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.771C>A (p.Ile257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002402885]|Tuberous sclerosis 1 [RCV001317623] Chr9:132912424 [GRCh38]
Chr9:135787811 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.308G>T (p.Trp103Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001370461] Chr9:132925642 [GRCh38]
Chr9:135801029 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420782]|Tuberous sclerosis 1 [RCV001359627] Chr9:132903728 [GRCh38]
Chr9:135779115 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.558A>G (p.Ala186=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351006]|Tuberous sclerosis 1 [RCV001486721]|not specified [RCV001844294] Chr9:132921924 [GRCh38]
Chr9:135797311 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1758T>C (p.Cys586=) single nucleotide variant Tuberous sclerosis 1 [RCV001490173] Chr9:132905820 [GRCh38]
Chr9:135781207 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2745C>T (p.His915=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439127]|Tuberous sclerosis 1 [RCV001472940] Chr9:132897491 [GRCh38]
Chr9:135772878 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384765]|Tuberous sclerosis 1 [RCV001472955]|not specified [RCV003331163] Chr9:132911118 [GRCh38]
Chr9:135786505 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=) single nucleotide variant Tuberous sclerosis 1 [RCV001474913] Chr9:132896553 [GRCh38]
Chr9:135771940 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002564237]|not provided [RCV001508281] Chr9:132921927 [GRCh38]
Chr9:135797314 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1396C>T (p.Leu466=) single nucleotide variant Tuberous sclerosis 1 [RCV001450433] Chr9:132906773 [GRCh38]
Chr9:135782160 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.303A>G (p.Pro101=) single nucleotide variant Tuberous sclerosis 1 [RCV001457485] Chr9:132925647 [GRCh38]
Chr9:135801034 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456804]|Tuberous sclerosis 1 [RCV001468064] Chr9:132896327 [GRCh38]
Chr9:135771714 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135778117)_135779381del deletion Tuberous sclerosis 1 [RCV001377552]   likely pathogenic
NM_000368.5(TSC1):c.495C>T (p.Cys165=) single nucleotide variant Tuberous sclerosis 1 [RCV001495095] Chr9:132923361 [GRCh38]
Chr9:135798748 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1965_1984dup (p.Lys662fs) duplication not provided [RCV001508278] Chr9:132905593..132905594 [GRCh38]
Chr9:135780980..135780981 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=) single nucleotide variant Tuberous sclerosis 1 [RCV001495348] Chr9:132896514 [GRCh38]
Chr9:135771901 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1881G>A (p.Leu627=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414204]|Tuberous sclerosis 1 [RCV001498375] Chr9:132905697 [GRCh38]
Chr9:135781084 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1542T>G (p.Gly514=) single nucleotide variant Tuberous sclerosis 1 [RCV001461020] Chr9:132906036 [GRCh38]
Chr9:135781423 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420854]|Tuberous sclerosis 1 [RCV001377906] Chr9:132905579 [GRCh38]
Chr9:135780966 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.393_405del (p.Thr131_Gly132insTer) deletion Tuberous sclerosis 1 [RCV001384683] Chr9:132923451..132923463 [GRCh38]
Chr9:135798838..135798850 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-8T>C single nucleotide variant Tuberous sclerosis 1 [RCV001464553] Chr9:132927312 [GRCh38]
Chr9:135802699 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1023A>G (p.Pro341=) single nucleotide variant Tuberous sclerosis 1 [RCV001417340] Chr9:132911459 [GRCh38]
Chr9:135786846 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.423A>G (p.Pro141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329582]|Tuberous sclerosis 1 [RCV001484356] Chr9:132923433 [GRCh38]
Chr9:135798820 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=) single nucleotide variant Tuberous sclerosis 1 [RCV001487776] Chr9:132896487 [GRCh38]
Chr9:135771874 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1197A>G (p.Pro399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298791]|Tuberous sclerosis 1 [RCV001458762] Chr9:132910637 [GRCh38]
Chr9:135786024 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1854T>C (p.His618=) single nucleotide variant Tuberous sclerosis 1 [RCV001454368] Chr9:132905724 [GRCh38]
Chr9:135781111 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3309G>A (p.Gln1103=) single nucleotide variant Tuberous sclerosis 1 [RCV001492522] Chr9:132896421 [GRCh38]
Chr9:135771808 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.129C>T (p.Asn43=) single nucleotide variant Tuberous sclerosis 1 [RCV001455418] Chr9:132927282 [GRCh38]
Chr9:135802669 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.891T>C (p.Tyr297=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377783]|Tuberous sclerosis 1 [RCV001462735] Chr9:132912304 [GRCh38]
Chr9:135787691 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.525C>G (p.Val175=) single nucleotide variant Tuberous sclerosis 1 [RCV001506421] Chr9:132921957 [GRCh38]
Chr9:135797344 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2557T>C (p.Leu853=) single nucleotide variant Tuberous sclerosis 1 [RCV001491239] Chr9:132900783 [GRCh38]
Chr9:135776170 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.657G>C (p.Val219=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368406]|Tuberous sclerosis 1 [RCV001459291] Chr9:132921825 [GRCh38]
Chr9:135797212 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439086]|Tuberous sclerosis 1 [RCV001459025]|not provided [RCV001567275] Chr9:132897449 [GRCh38]
Chr9:135772836 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.369C>T (p.Asp123=) single nucleotide variant Tuberous sclerosis 1 [RCV001455236] Chr9:132923487 [GRCh38]
Chr9:135798874 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV001505204] Chr9:132903824 [GRCh38]
Chr9:135779211 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.664-4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368394]|Tuberous sclerosis 1 [RCV001455803] Chr9:132921440 [GRCh38]
Chr9:135796827 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.516G>A (p.Val172=) single nucleotide variant Tuberous sclerosis 1 [RCV001491488] Chr9:132921966 [GRCh38]
Chr9:135797353 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1473A>G (p.Thr491=) single nucleotide variant Tuberous sclerosis 1 [RCV001475639] Chr9:132906105 [GRCh38]
Chr9:135781492 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2325C>T (p.Leu775=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449231]|Tuberous sclerosis 1 [RCV001459667] Chr9:132902671 [GRCh38]
Chr9:135778058 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2905T>C (p.Leu969=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003284350]|Tuberous sclerosis 1 [RCV001491588] Chr9:132897254 [GRCh38]
Chr9:135772641 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256801]|Tuberous sclerosis 1 [RCV001491609] Chr9:132896484 [GRCh38]
Chr9:135771871 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-9T>G single nucleotide variant Tuberous sclerosis 1 [RCV001474407] Chr9:132900846 [GRCh38]
Chr9:135776233 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs) duplication Tuberous sclerosis 1 [RCV001390649] Chr9:132902782..132902783 [GRCh38]
Chr9:135778169..135778170 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2975+7A>T single nucleotide variant Tuberous sclerosis 1 [RCV001392921] Chr9:132897177 [GRCh38]
Chr9:135772564 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.344del (p.Ser115fs) deletion Tuberous sclerosis 1 [RCV001383657] Chr9:132925606 [GRCh38]
Chr9:135800993 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2821C>T (p.Leu941=) single nucleotide variant Tuberous sclerosis 1 [RCV001463257] Chr9:132897338 [GRCh38]
Chr9:135772725 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1095C>T (p.Val365=) single nucleotide variant Tuberous sclerosis 1 [RCV001483346] Chr9:132911048 [GRCh38]
Chr9:135786435 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV001383671] Chr9:132912281 [GRCh38]
Chr9:135787668 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.993T>C (p.Ser331=) single nucleotide variant Tuberous sclerosis 1 [RCV001498259] Chr9:132911489 [GRCh38]
Chr9:135786876 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1999T>C (p.Leu667=) single nucleotide variant Tuberous sclerosis 1 [RCV001484438] Chr9:132904453 [GRCh38]
Chr9:135779840 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2141del (p.Leu714fs) deletion Tuberous sclerosis 1 [RCV001388672] Chr9:132903718 [GRCh38]
Chr9:135779105 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2547C>T (p.Asn849=) single nucleotide variant Tuberous sclerosis 1 [RCV001466466] Chr9:132900793 [GRCh38]
Chr9:135776180 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2739A>G (p.Glu913=) single nucleotide variant Tuberous sclerosis 1 [RCV001491920] Chr9:132897497 [GRCh38]
Chr9:135772884 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2463G>A (p.Val821=) single nucleotide variant Tuberous sclerosis 1 [RCV001498549] Chr9:132901628 [GRCh38]
Chr9:135777015 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1785C>A (p.Gly595=) single nucleotide variant Tuberous sclerosis 1 [RCV001467401] Chr9:132905793 [GRCh38]
Chr9:135781180 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs) duplication Tuberous sclerosis 1 [RCV001384179] Chr9:132905701..132905702 [GRCh38]
Chr9:135781088..135781089 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.914-63_914-58del deletion not provided [RCV001608870] Chr9:132911626..132911631 [GRCh38]
Chr9:135787013..135787018 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1110A>C (p.Ser370=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375283]|Tuberous sclerosis 1 [RCV001400568] Chr9:132911033 [GRCh38]
Chr9:135786420 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1285_1298del (p.Arg429fs) deletion Tuberous sclerosis 1 [RCV001387191] Chr9:132907336..132907349 [GRCh38]
Chr9:135782723..135782736 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.903G>A (p.Gln301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377617]|Tuberous sclerosis 1 [RCV001404352] Chr9:132912292 [GRCh38]
Chr9:135787679 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2092C>T (p.Leu698=) single nucleotide variant Tuberous sclerosis 1 [RCV001394207] Chr9:132903767 [GRCh38]
Chr9:135779154 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2520G>C (p.Ser840=) single nucleotide variant Tuberous sclerosis 1 [RCV001426209] Chr9:132900820 [GRCh38]
Chr9:135776207 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2430G>A (p.Leu810=) single nucleotide variant Tuberous sclerosis 1 [RCV001438426] Chr9:132901661 [GRCh38]
Chr9:135777048 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-5A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255662]|Tuberous sclerosis 1 [RCV001419950] Chr9:132903822 [GRCh38]
Chr9:135779209 [GRCh37]
Chr9:9q34.13		 likely benign|conflicting interpretations of pathogenicity
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=) single nucleotide variant Tuberous sclerosis 1 [RCV001411909] Chr9:132896565 [GRCh38]
Chr9:135771952 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.181del (p.Ile60_Leu61insTer) deletion Tuberous sclerosis 1 [RCV001387456] Chr9:132927230 [GRCh38]
Chr9:135802617 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1439-5C>T single nucleotide variant Tuberous sclerosis 1 [RCV001409676] Chr9:132906144 [GRCh38]
Chr9:135781531 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1230A>C (p.Ser410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368242]|Tuberous sclerosis 1 [RCV001394242] Chr9:132910604 [GRCh38]
Chr9:135785991 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.147C>T (p.Tyr49=) single nucleotide variant Tuberous sclerosis 1 [RCV001420002] Chr9:132927264 [GRCh38]
Chr9:135802651 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2547del (p.Asn849fs) deletion Tuberous sclerosis 1 [RCV001380315] Chr9:132900793 [GRCh38]
Chr9:135776180 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1201del (p.Cys401fs) deletion Tuberous sclerosis 1 [RCV001381145] Chr9:132910633 [GRCh38]
Chr9:135786020 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1956G>T (p.Leu652=) single nucleotide variant Tuberous sclerosis 1 [RCV001441382] Chr9:132905622 [GRCh38]
Chr9:135781009 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.639G>A (p.Leu213=) single nucleotide variant Tuberous sclerosis 1 [RCV001434259] Chr9:132921843 [GRCh38]
Chr9:135797230 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+7T>G single nucleotide variant Tuberous sclerosis 1 [RCV001426375] Chr9:132921812 [GRCh38]
Chr9:135797199 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.398dup (p.Val135fs) duplication Tuberous sclerosis 1 [RCV001380335] Chr9:132923457..132923458 [GRCh38]
Chr9:135798844..135798845 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2746C>T (p.Leu916=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439002]|Tuberous sclerosis 1 [RCV001430683] Chr9:132897490 [GRCh38]
Chr9:135772877 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.381T>C (p.Val127=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357317]|Tuberous sclerosis 1 [RCV001398092] Chr9:132923475 [GRCh38]
Chr9:135798862 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTGTTTTTGTATTGGGGGGTAAATCCTCAAGTCAAGCTCGACAGAANNNNNNNNNNTCTCGCTCTCGTGTCCTCGGTAGACGCCGTGTTGGGCCTCCCACAGTGCTGGGATTACTGGCGTGCGCCAGCGCGCCCGGCCGAAAGACCACCTTCTTTT (p.Leu924delinsPhePheTyrPheLeuPhePhePhePheLeuPhePhePheTer) microsatellite Tuberous sclerosis 1 [RCV001386310] Chr9:132897464..132897465 [GRCh38]
Chr9:135772851..135772852 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.211-8A>G single nucleotide variant Tuberous sclerosis 1 [RCV001439730] Chr9:132925747 [GRCh38]
Chr9:135801134 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1557C>G (p.Thr519=) single nucleotide variant Tuberous sclerosis 1 [RCV001432897] Chr9:132906021 [GRCh38]
Chr9:135781408 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1141+9G>T single nucleotide variant Tuberous sclerosis 1 [RCV001446812] Chr9:132910993 [GRCh38]
Chr9:135786380 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1323C>T (p.Asp441=) single nucleotide variant Tuberous sclerosis 1 [RCV001403526] Chr9:132907311 [GRCh38]
Chr9:135782698 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1167A>G (p.Gly389=) single nucleotide variant Tuberous sclerosis 1 [RCV001444111] Chr9:132910667 [GRCh38]
Chr9:135786054 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1008G>A (p.Arg336=) single nucleotide variant Tuberous sclerosis 1 [RCV001446753] Chr9:132911474 [GRCh38]
Chr9:135786861 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2130dup (p.Gln711fs) duplication Tuberous sclerosis 1 [RCV001380829] Chr9:132903728..132903729 [GRCh38]
Chr9:135779115..135779116 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2532G>A (p.Gln844=) single nucleotide variant Tuberous sclerosis 1 [RCV001407797] Chr9:132900808 [GRCh38]
Chr9:135776195 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.969A>G (p.Pro323=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384691]|Tuberous sclerosis 1 [RCV001446973] Chr9:132911513 [GRCh38]
Chr9:135786900 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.561_562dup (p.Phe188fs) microsatellite Tuberous sclerosis 1 [RCV001381489] Chr9:132921919..132921920 [GRCh38]
Chr9:135797306..135797307 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1008G>T (p.Arg336=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432118]|Tuberous sclerosis 1 [RCV001405119] Chr9:132911474 [GRCh38]
Chr9:135786861 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1473A>C (p.Thr491=) single nucleotide variant Tuberous sclerosis 1 [RCV001428545] Chr9:132906105 [GRCh38]
Chr9:135781492 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1450A>T (p.Arg484Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001390309] Chr9:132906128 [GRCh38]
Chr9:135781515 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2976-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV001437641] Chr9:132896761 [GRCh38]
Chr9:135772148 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2157C>T (p.Leu719=) single nucleotide variant Tuberous sclerosis 1 [RCV001419014] Chr9:132903702 [GRCh38]
Chr9:135779089 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449182]|Tuberous sclerosis 1 [RCV001437662] Chr9:132896454 [GRCh38]
Chr9:135771841 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.945dup (p.Arg316fs) duplication Tuberous sclerosis 1 [RCV001386542] Chr9:132911536..132911537 [GRCh38]
Chr9:135786923..135786924 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.364-6C>T single nucleotide variant Tuberous sclerosis 1 [RCV001407906] Chr9:132923498 [GRCh38]
Chr9:135798885 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-8A>G single nucleotide variant Tuberous sclerosis 1 [RCV001410382] Chr9:132903825 [GRCh38]
Chr9:135779212 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3246C>A (p.Pro1082=) single nucleotide variant Tuberous sclerosis 1 [RCV001449547] Chr9:132896484 [GRCh38]
Chr9:135771871 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2073C>T (p.Leu691=) single nucleotide variant Tuberous sclerosis 1 [RCV001405643] Chr9:132903786 [GRCh38]
Chr9:135779173 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.330A>T (p.Ala110=) single nucleotide variant Tuberous sclerosis 1 [RCV001405469] Chr9:132925620 [GRCh38]
Chr9:135801007 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439013]|Tuberous sclerosis 1 [RCV001434255] Chr9:132896721 [GRCh38]
Chr9:135772108 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135771622)_(135820530_?)del deletion Tuberous sclerosis 1 [RCV001388741] Chr9:135771622..135820530 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.664-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV001441993] Chr9:132921443 [GRCh38]
Chr9:135796830 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1002G>C (p.Ser334=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003355482]|Tuberous sclerosis 1 [RCV001447517] Chr9:132911480 [GRCh38]
Chr9:135786867 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.181dup (p.Leu61fs) duplication Tuberous sclerosis 1 [RCV001386596] Chr9:132927229..132927230 [GRCh38]
Chr9:135802616..135802617 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1773G>T (p.Pro591=) single nucleotide variant Tuberous sclerosis 1 [RCV001447762] Chr9:132905805 [GRCh38]
Chr9:135781192 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1197A>C (p.Pro399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002341868]|Tuberous sclerosis 1 [RCV001404014] Chr9:132910637 [GRCh38]
Chr9:135786024 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322466]|Tuberous sclerosis 1 [RCV001442362] Chr9:132896373 [GRCh38]
Chr9:135771760 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2181A>C (p.Ala727=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375287]|Tuberous sclerosis 1 [RCV001411047] Chr9:132903678 [GRCh38]
Chr9:135779065 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1797del (p.Gln600fs) deletion Tuberous sclerosis 1 [RCV001381589] Chr9:132905781 [GRCh38]
Chr9:135781168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2208+8C>A single nucleotide variant Tuberous sclerosis 1 [RCV001406259] Chr9:132903643 [GRCh38]
Chr9:135779030 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1137A>T (p.Thr379=) single nucleotide variant Tuberous sclerosis 1 [RCV001411078] Chr9:132911006 [GRCh38]
Chr9:135786393 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2094G>A (p.Leu698=) single nucleotide variant Tuberous sclerosis 1 [RCV001398539] Chr9:132903765 [GRCh38]
Chr9:135779152 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2172C>A (p.Ile724=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432190]|Tuberous sclerosis 1 [RCV001429416] Chr9:132903687 [GRCh38]
Chr9:135779074 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135782098)_(135796843_?)del deletion Tuberous sclerosis 1 [RCV001388742] Chr9:135782098..135796843 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449206]|Tuberous sclerosis 1 [RCV001448181] Chr9:132896451 [GRCh38]
Chr9:135771838 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.750A>G (p.Leu250=) single nucleotide variant Tuberous sclerosis 1 [RCV001438122] Chr9:132912445 [GRCh38]
Chr9:135787832 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1224C>T (p.His408=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255665]|Tuberous sclerosis 1 [RCV001429690] Chr9:132910610 [GRCh38]
Chr9:135785997 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.738-9A>G single nucleotide variant Tuberous sclerosis 1 [RCV001418132] Chr9:132912466 [GRCh38]
Chr9:135787853 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2709T>C (p.Asp903=) single nucleotide variant Tuberous sclerosis 1 [RCV001401770] Chr9:132897527 [GRCh38]
Chr9:135772914 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1264-10del deletion Tuberous sclerosis 1 [RCV001406386] Chr9:132907380 [GRCh38]
Chr9:135782767 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2502+8G>T single nucleotide variant Tuberous sclerosis 1 [RCV001406421] Chr9:132901581 [GRCh38]
Chr9:135776968 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.819T>C (p.Asp273=) single nucleotide variant Tuberous sclerosis 1 [RCV001448134] Chr9:132912376 [GRCh38]
Chr9:135787763 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432102]|Tuberous sclerosis 1 [RCV001398965] Chr9:132900841 [GRCh38]
Chr9:135776228 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2391+9T>G single nucleotide variant Tuberous sclerosis 1 [RCV001443203] Chr9:132902596 [GRCh38]
Chr9:135777983 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+8G>A single nucleotide variant Tuberous sclerosis 1 [RCV001448391] Chr9:132921811 [GRCh38]
Chr9:135797198 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1212T>C (p.Asp404=) single nucleotide variant Tuberous sclerosis 1 [RCV001435262] Chr9:132910622 [GRCh38]
Chr9:135786009 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.397_406del (p.Gly132_Val133insTer) deletion Tuberous sclerosis 1 [RCV001384424] Chr9:132923450..132923459 [GRCh38]
Chr9:135798837..135798846 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.690T>C (p.His230=) single nucleotide variant Tuberous sclerosis 1 [RCV001432510] Chr9:132921410 [GRCh38]
Chr9:135796797 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1431A>G (p.Lys477=) single nucleotide variant Tuberous sclerosis 1 [RCV001448620] Chr9:132906738 [GRCh38]
Chr9:135782125 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3144A>G (p.Pro1048=) single nucleotide variant Tuberous sclerosis 1 [RCV001472528] Chr9:132896586 [GRCh38]
Chr9:135771973 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1032T>C (p.Ala344=) single nucleotide variant Tuberous sclerosis 1 [RCV001461105] Chr9:132911111 [GRCh38]
Chr9:135786498 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2198A>G (p.Asn733Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003505174]|not provided [RCV001508276] Chr9:132903661 [GRCh38]
Chr9:135779048 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+367del deletion Tuberous sclerosis 1 [RCV001482136] Chr9:132900348 [GRCh38]
Chr9:135775735 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1541_1544del (p.Gly514fs) deletion not provided [RCV001508279] Chr9:132906034..132906037 [GRCh38]
Chr9:135781421..135781424 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.239_240del (p.Val80fs) microsatellite not provided [RCV001508282] Chr9:132925710..132925711 [GRCh38]
Chr9:135801097..135801098 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1333+209C>T single nucleotide variant not provided [RCV001717174] Chr9:132907092 [GRCh38]
Chr9:135782479 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1998-5C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421016]|Tuberous sclerosis 1 [RCV001450570] Chr9:132904459 [GRCh38]
Chr9:135779846 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1410A>G (p.Glu470=) single nucleotide variant Tuberous sclerosis 1 [RCV001495450]|not provided [RCV003159210] Chr9:132906759 [GRCh38]
Chr9:135782146 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2477_2480dup (p.Leu828fs) duplication Tuberous sclerosis 1 [RCV002567987]|not provided [RCV001508275] Chr9:132901610..132901611 [GRCh38]
Chr9:135776997..135776998 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2607G>A (p.Lys869=) single nucleotide variant Tuberous sclerosis 1 [RCV001490687] Chr9:132900733 [GRCh38]
Chr9:135776120 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.780C>T (p.Ala260=) single nucleotide variant Tuberous sclerosis 1 [RCV001495480] Chr9:132912415 [GRCh38]
Chr9:135787802 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-144+9dup duplication Hereditary cancer-predisposing syndrome [RCV002255686]|not provided [RCV001716608] Chr9:132944529..132944530 [GRCh38]
Chr9:135819916..135819917 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.-143-17A>G single nucleotide variant not provided [RCV001716609] Chr9:132935112 [GRCh38]
Chr9:135810499 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1890A>G (p.Lys630=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298907]|Tuberous sclerosis 1 [RCV001506603] Chr9:132905688 [GRCh38]
Chr9:135781075 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+101A>G single nucleotide variant not provided [RCV001715779] Chr9:132897083 [GRCh38]
Chr9:135772470 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1977G>T (p.Ala659=) single nucleotide variant Tuberous sclerosis 1 [RCV001451457] Chr9:132905601 [GRCh38]
Chr9:135780988 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=) single nucleotide variant Tuberous sclerosis 1 [RCV001455276] Chr9:132896625 [GRCh38]
Chr9:135772012 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439140]|Tuberous sclerosis 1 [RCV001476241] Chr9:132896700 [GRCh38]
Chr9:135772087 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+7A>T single nucleotide variant Tuberous sclerosis 1 [RCV001482619] Chr9:132923341 [GRCh38]
Chr9:135798728 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+10C>G single nucleotide variant Tuberous sclerosis 1 [RCV001459336] Chr9:132921353 [GRCh38]
Chr9:135796740 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2343G>A (p.Gln781=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449331]|Tuberous sclerosis 1 [RCV001503533] Chr9:132902653 [GRCh38]
Chr9:135778040 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+9T>C single nucleotide variant Tuberous sclerosis 1 [RCV001459373] Chr9:132907292 [GRCh38]
Chr9:135782679 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2292C>G (p.Leu764=) single nucleotide variant Tuberous sclerosis 1 [RCV001476997] Chr9:132902704 [GRCh38]
Chr9:135778091 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160875]|Tuberous sclerosis 1 [RCV001462636] Chr9:132905931 [GRCh38]
Chr9:135781318 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-58del deletion not provided [RCV001686556] Chr9:132911626 [GRCh38]
Chr9:135787013 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=) single nucleotide variant Tuberous sclerosis 1 [RCV001497254] Chr9:132896307 [GRCh38]
Chr9:135771694 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298773]|Tuberous sclerosis 1 [RCV001452329] Chr9:132896547 [GRCh38]
Chr9:135771934 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+315C>T single nucleotide variant not provided [RCV001686745] Chr9:132910256 [GRCh38]
Chr9:135785643 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.913+7A>C single nucleotide variant Tuberous sclerosis 1 [RCV001504377] Chr9:132912275 [GRCh38]
Chr9:135787662 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1156del (p.Thr386fs) deletion Tuberous sclerosis 1 [RCV001724772] Chr9:132910678 [GRCh38]
Chr9:135786065 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1245A>G (p.Thr415=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388560]|Tuberous sclerosis 1 [RCV001505514] Chr9:132910589 [GRCh38]
Chr9:135785976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-5T>C single nucleotide variant Tuberous sclerosis 1 [RCV001456889] Chr9:132923497 [GRCh38]
Chr9:135798884 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322459]|Tuberous sclerosis 1 [RCV001436178] Chr9:132896469 [GRCh38]
Chr9:135771856 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3168A>G (p.Ala1056=) single nucleotide variant Tuberous sclerosis 1 [RCV001419081] Chr9:132896562 [GRCh38]
Chr9:135771949 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.57G>C (p.Leu19=) single nucleotide variant Tuberous sclerosis 1 [RCV001462441] Chr9:132928816 [GRCh38]
Chr9:135804203 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=) single nucleotide variant Tuberous sclerosis 1 [RCV001467015] Chr9:132896616 [GRCh38]
Chr9:135772003 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-9C>G single nucleotide variant Lymphangiomyomatosis [RCV002501625]|Tuberous sclerosis 1 [RCV001469589] Chr9:132921982 [GRCh38]
Chr9:135797369 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2688C>G (p.Leu896=) single nucleotide variant Tuberous sclerosis 1 [RCV001424926] Chr9:132897548 [GRCh38]
Chr9:135772935 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) single nucleotide variant Tuberous sclerosis 1 [RCV001435860] Chr9:132902626 [GRCh38]
Chr9:135778013 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2748G>A (p.Leu916=) single nucleotide variant Tuberous sclerosis 1 [RCV001453044] Chr9:132897488 [GRCh38]
Chr9:135772875 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-9del deletion Tuberous sclerosis 1 [RCV001479843] Chr9:132903826 [GRCh38]
Chr9:135779213 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2874T>C (p.Phe958=) single nucleotide variant Tuberous sclerosis 1 [RCV001436006] Chr9:132897285 [GRCh38]
Chr9:135772672 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334564]|Tuberous sclerosis 1 [RCV001506489] Chr9:132921977 [GRCh38]
Chr9:135797364 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2463G>C (p.Val821=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003160906]|Tuberous sclerosis 1 [RCV001470547] Chr9:132901628 [GRCh38]
Chr9:135777015 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001378275] Chr9:132921974 [GRCh38]
Chr9:135797361 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.177C>T (p.His59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414086]|Tuberous sclerosis 1 [RCV001453753] Chr9:132927234 [GRCh38]
Chr9:135802621 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3435G>C (p.Pro1145=) single nucleotide variant Tuberous sclerosis 1 [RCV001495952] Chr9:132896295 [GRCh38]
Chr9:135771682 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.756T>G (p.Thr252=) single nucleotide variant Tuberous sclerosis 1 [RCV001442752] Chr9:132912439 [GRCh38]
Chr9:135787826 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-4T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377615]|Tuberous sclerosis 1 [RCV001403846] Chr9:132911572 [GRCh38]
Chr9:135786959 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.270C>G (p.Leu90=) single nucleotide variant Tuberous sclerosis 1 [RCV001476114] Chr9:132925680 [GRCh38]
Chr9:135801067 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.186C>T (p.Thr62=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414201]|Tuberous sclerosis 1 [RCV001496410] Chr9:132927225 [GRCh38]
Chr9:135802612 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.60T>G (p.Gly20=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359022]|Tuberous sclerosis 1 [RCV001457306] Chr9:132928813 [GRCh38]
Chr9:135804200 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1668C>T (p.Asp556=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405200]|Tuberous sclerosis 1 [RCV001505158] Chr9:132905910 [GRCh38]
Chr9:135781297 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.321C>T (p.Leu107=) single nucleotide variant Tuberous sclerosis 1 [RCV001425488] Chr9:132925629 [GRCh38]
Chr9:135801016 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432071]|Tuberous sclerosis 1 [RCV001385425] Chr9:132900741 [GRCh38]
Chr9:135776128 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1980C>T (p.His660=) single nucleotide variant Tuberous sclerosis 1 [RCV001417711] Chr9:132905598 [GRCh38]
Chr9:135780985 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+7G>T single nucleotide variant Tuberous sclerosis 1 [RCV001459170] Chr9:132927194 [GRCh38]
Chr9:135802581 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1704A>C (p.Gly568=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414089]|Tuberous sclerosis 1 [RCV001454530] Chr9:132905874 [GRCh38]
Chr9:135781261 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2790A>G (p.Leu930=) single nucleotide variant Tuberous sclerosis 1 [RCV001467678] Chr9:132897446 [GRCh38]
Chr9:135772833 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.180C>T (p.Ile60=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375311]|Tuberous sclerosis 1 [RCV001467732] Chr9:132927231 [GRCh38]
Chr9:135802618 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.106+9A>C single nucleotide variant Tuberous sclerosis 1 [RCV001425496] Chr9:132928758 [GRCh38]
Chr9:135804145 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2400G>A (p.Leu800=) single nucleotide variant Tuberous sclerosis 1 [RCV001402065] Chr9:132901691 [GRCh38]
Chr9:135777078 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1950C>T (p.Asp650=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421041]|Tuberous sclerosis 1 [RCV001459505] Chr9:132905628 [GRCh38]
Chr9:135781015 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2542T>C (p.Leu848=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298800]|Tuberous sclerosis 1 [RCV001460654] Chr9:132900798 [GRCh38]
Chr9:135776185 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322407]|Tuberous sclerosis 1 [RCV001406716] Chr9:132896517 [GRCh38]
Chr9:135771904 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2796T>C (p.Asp932=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439067]|Tuberous sclerosis 1 [RCV001451821] Chr9:132897440 [GRCh38]
Chr9:135772827 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.342T>G (p.Pro114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342075]|Tuberous sclerosis 1 [RCV001476441] Chr9:132925608 [GRCh38]
Chr9:135800995 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405195]|TSC1-related condition [RCV003900737]|Tuberous sclerosis 1 [RCV001503649] Chr9:132906029 [GRCh38]
Chr9:135781416 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358975]|Lymphangiomyomatosis [RCV002501535]|Tuberous sclerosis 1 [RCV001434666] Chr9:132921897 [GRCh38]
Chr9:135797284 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2457C>T (p.Asn819=) single nucleotide variant Tuberous sclerosis 1 [RCV001400300] Chr9:132901634 [GRCh38]
Chr9:135777021 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.156C>A (p.Thr52=) single nucleotide variant Tuberous sclerosis 1 [RCV001417723] Chr9:132927255 [GRCh38]
Chr9:135802642 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.489A>G (p.Ser163=) single nucleotide variant Tuberous sclerosis 1 [RCV001429902] Chr9:132923367 [GRCh38]
Chr9:135798754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3042C>T (p.His1014=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449222]|Tuberous sclerosis 1 [RCV001454383] Chr9:132896688 [GRCh38]
Chr9:135772075 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.714G>A (p.Lys238=) single nucleotide variant Tuberous sclerosis 1 [RCV001454400] Chr9:132921386 [GRCh38]
Chr9:135796773 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1350C>T (p.Ser450=) single nucleotide variant Tuberous sclerosis 1 [RCV001499050]|not provided [RCV002276521] Chr9:132906819 [GRCh38]
Chr9:135782206 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.17del (p.Asn6fs) deletion Tuberous sclerosis 1 [RCV001385624] Chr9:132928856 [GRCh38]
Chr9:135804243 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2083T>C (p.Leu695=) single nucleotide variant Tuberous sclerosis 1 [RCV001461818] Chr9:132903776 [GRCh38]
Chr9:135779163 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2664A>G (p.Leu888=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003298802]|Tuberous sclerosis 1 [RCV001461882] Chr9:132897572 [GRCh38]
Chr9:135772959 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2065dup (p.Arg689fs) duplication Tuberous sclerosis 1 [RCV001386055] Chr9:132903793..132903794 [GRCh38]
Chr9:135779180..135779181 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1488T>C (p.Pro496=) single nucleotide variant Tuberous sclerosis 1 [RCV001494410] Chr9:132906090 [GRCh38]
Chr9:135781477 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.526dup (p.Tyr176fs) duplication Hereditary cancer-predisposing syndrome [RCV003375275]|Tuberous sclerosis 1 [RCV001384328] Chr9:132921955..132921956 [GRCh38]
Chr9:135797342..135797343 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1898del (p.Gly633fs) deletion Tuberous sclerosis 1 [RCV001386226] Chr9:132905680 [GRCh38]
Chr9:135781067 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.96C>T (p.Asn32=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377709]|Tuberous sclerosis 1 [RCV001437508] Chr9:132928777 [GRCh38]
Chr9:135804164 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=) single nucleotide variant Tuberous sclerosis 1 [RCV001459678] Chr9:132896271 [GRCh38]
Chr9:135771658 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.603C>A (p.Ser201=) single nucleotide variant Tuberous sclerosis 1 [RCV001426665] Chr9:132921879 [GRCh38]
Chr9:135797266 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1143A>G (p.Ala381=) single nucleotide variant Tuberous sclerosis 1 [RCV001438900] Chr9:132910691 [GRCh38]
Chr9:135786078 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter) single nucleotide variant Malignant tumor of urinary bladder [RCV003332343]|Tuberous sclerosis 1 [RCV001390138] Chr9:132911455 [GRCh38]
Chr9:135786842 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=) single nucleotide variant Tuberous sclerosis 1 [RCV001399434] Chr9:132896532 [GRCh38]
Chr9:135771919 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-5A>G single nucleotide variant not provided [RCV001727492] Chr9:132928877 [GRCh38]
Chr9:135804264 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2479C>T (p.Leu827=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258533] Chr9:132901612 [GRCh38]
Chr9:135776999 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003470886]|not provided [RCV001761465] Chr9:132896243 [GRCh38]
Chr9:135771630 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val) single nucleotide variant Tuberous sclerosis 1 [RCV001882900]|not provided [RCV001757079] Chr9:132902783 [GRCh38]
Chr9:135778170 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2225del (p.Leu742fs) deletion See cases [RCV002252809] Chr9:132902771 [GRCh38]
Chr9:135778158 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.975G>A (p.Gln325=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382292]|Tuberous sclerosis 1 [RCV002184982] Chr9:132911507 [GRCh38]
Chr9:135786894 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-8_2626-4del deletion Hereditary cancer-predisposing syndrome [RCV002255904]|TSC1-related condition [RCV003933716] Chr9:132897614..132897618 [GRCh38]
Chr9:135773001..135773005 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255908]|Tuberous sclerosis 1 [RCV003094218] Chr9:132928823 [GRCh38]
Chr9:135804210 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2626-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257184] Chr9:132897613 [GRCh38]
Chr9:135773000 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-7_2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002257185] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2120T>C (p.Phe707Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258532] Chr9:132903739 [GRCh38]
Chr9:135779126 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3316G>A (p.Glu1106Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258534]|Tuberous sclerosis 1 [RCV003101415] Chr9:132896414 [GRCh38]
Chr9:135771801 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.444A>G (p.Lys148=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329752]|Tuberous sclerosis 1 [RCV002074070]|not specified [RCV001779513] Chr9:132923412 [GRCh38]
Chr9:135798799 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.738-3141A>C single nucleotide variant not provided [RCV001786037] Chr9:132915598 [GRCh38]
Chr9:135790985 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1456C>G (p.Leu486Val) single nucleotide variant not provided [RCV001761269] Chr9:132906122 [GRCh38]
Chr9:135781509 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002544118]|not provided [RCV001763670] Chr9:132910600 [GRCh38]
Chr9:135785987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1066A>G (p.Thr356Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001733792] Chr9:132911077 [GRCh38]
Chr9:135786464 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1462G>C (p.Glu488Gln) single nucleotide variant not provided [RCV001765536] Chr9:132906116 [GRCh38]
Chr9:135781503 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440861]|Tuberous sclerosis 1 [RCV002540503]|not provided [RCV001763994] Chr9:132897429 [GRCh38]
Chr9:135772816 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3063del (p.Arg1022fs) deletion not provided [RCV001754473] Chr9:132896667 [GRCh38]
Chr9:135772054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002544127]|not provided [RCV001769071] Chr9:132897544 [GRCh38]
Chr9:135772931 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2785T>C (p.Tyr929His) single nucleotide variant not provided [RCV001769114] Chr9:132897451 [GRCh38]
Chr9:135772838 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.770T>C (p.Ile257Thr) single nucleotide variant not provided [RCV001765042] Chr9:132912425 [GRCh38]
Chr9:135787812 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440860]|Tuberous sclerosis 1 [RCV001868582]|not provided [RCV001769145] Chr9:132896734 [GRCh38]
Chr9:135772121 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1036C>T (p.Leu346Phe) single nucleotide variant not provided [RCV001774629] Chr9:132911107 [GRCh38]
Chr9:135786494 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425049]|Tuberous sclerosis 1 [RCV001882894]|not provided [RCV001765794] Chr9:132925694 [GRCh38]
Chr9:135801081 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3403C>G (p.Leu1135Val) single nucleotide variant not provided [RCV001771145] Chr9:132896327 [GRCh38]
Chr9:135771714 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr) insertion Hereditary cancer-predisposing syndrome [RCV002405306]|not provided [RCV001771165] Chr9:132911083..132911084 [GRCh38]
Chr9:135786470..135786471 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.785T>C (p.Ile262Thr) single nucleotide variant not provided [RCV001771355] Chr9:132912410 [GRCh38]
Chr9:135787797 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2873T>G (p.Phe958Cys) single nucleotide variant not provided [RCV001761434] Chr9:132897286 [GRCh38]
Chr9:135772673 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.59G>A (p.Gly20Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003505185]|not provided [RCV003237460] Chr9:132928814 [GRCh38]
Chr9:135804201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002543914]|not provided [RCV001733454] Chr9:132897601 [GRCh38]
Chr9:135772988 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2840G>A (p.Arg947Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003197694] Chr9:132897319 [GRCh38]
Chr9:135772706 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.801A>G (p.Thr267=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422869]|not provided [RCV001815977] Chr9:132912394 [GRCh38]
Chr9:135787781 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.58G>C (p.Gly20Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001889352] Chr9:132928815 [GRCh38]
Chr9:135804202 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.248C>A (p.Ala83Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001988436] Chr9:132925702 [GRCh38]
Chr9:135801089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458891]|Tuberous sclerosis 1 [RCV001983132] Chr9:132902618 [GRCh38]
Chr9:135778005 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002008380] Chr9:132904441 [GRCh38]
Chr9:135779828 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+3A>G single nucleotide variant Tuberous sclerosis 1 [RCV001863633] Chr9:132900712 [GRCh38]
Chr9:135776099 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001864151] Chr9:132905612 [GRCh38]
Chr9:135780999 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001988472] Chr9:132905749 [GRCh38]
Chr9:135781136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3109_3111dup (p.Gly1037dup) duplication Tuberous sclerosis 1 [RCV001896746] Chr9:132896618..132896619 [GRCh38]
Chr9:135772005..135772006 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2082G>T (p.Gln694His) single nucleotide variant Tuberous sclerosis 1 [RCV001893806] Chr9:132903777 [GRCh38]
Chr9:135779164 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.343T>A (p.Ser115Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001912461] Chr9:132925607 [GRCh38]
Chr9:135800994 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.251C>A (p.Ala84Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002008547] Chr9:132925699 [GRCh38]
Chr9:135801086 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002008556] Chr9:132897212 [GRCh38]
Chr9:135772599 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer) deletion Tuberous sclerosis 1 [RCV002001834] Chr9:132903692 [GRCh38]
Chr9:135779079 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.643A>G (p.Thr215Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001914699] Chr9:132921839 [GRCh38]
Chr9:135797226 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-3C>T single nucleotide variant Tuberous sclerosis 1 [RCV002045281] Chr9:132907373 [GRCh38]
Chr9:135782760 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val) single nucleotide variant Tuberous sclerosis 1 [RCV001874880]|not provided [RCV003318694] Chr9:132906124 [GRCh38]
Chr9:135781511 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135771622)_(135801136_?)dup duplication Tuberous sclerosis 1 [RCV001874881] Chr9:135771622..135801136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001874887] Chr9:132903692 [GRCh38]
Chr9:135779079 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.952A>T (p.Met318Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001967986] Chr9:132911530 [GRCh38]
Chr9:135786917 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.220G>A (p.Asp74Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001949057] Chr9:132925730 [GRCh38]
Chr9:135801117 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003464356]|Tuberous sclerosis 1 [RCV002025097] Chr9:132910689 [GRCh38]
Chr9:135786076 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324442]|Tuberous sclerosis 1 [RCV002025462] Chr9:132896518 [GRCh38]
Chr9:135771905 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2454C>A (p.Asn818Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001969213] Chr9:132901637 [GRCh38]
Chr9:135777024 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2039_2041+1del deletion Tuberous sclerosis 1 [RCV002007502] Chr9:132904410..132904413 [GRCh38]
Chr9:135779797..135779800 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001969047] Chr9:132896254 [GRCh38]
Chr9:135771641 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001987759] Chr9:132897562 [GRCh38]
Chr9:135772949 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2209-10T>G single nucleotide variant Tuberous sclerosis 1 [RCV001949902] Chr9:132902797 [GRCh38]
Chr9:135778184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-7C>A single nucleotide variant Tuberous sclerosis 1 [RCV001971119] Chr9:132923499 [GRCh38]
Chr9:135798886 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.253A>G (p.Thr85Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001929783] Chr9:132925697 [GRCh38]
Chr9:135801084 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.229A>G (p.Asn77Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002009105] Chr9:132925721 [GRCh38]
Chr9:135801108 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2975+3A>G single nucleotide variant Tuberous sclerosis 1 [RCV001970265] Chr9:132897181 [GRCh38]
Chr9:135772568 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2674del (p.Arg892fs) deletion Tuberous sclerosis 1 [RCV001970210] Chr9:132897562 [GRCh38]
Chr9:135772949 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.434A>G (p.Gln145Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001970930] Chr9:132923422 [GRCh38]
Chr9:135798809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys) indel Hereditary cancer-predisposing syndrome [RCV003161282]|Tuberous sclerosis 1 [RCV002024931] Chr9:132896623..132896624 [GRCh38]
Chr9:135772010..135772011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135802568)_(135804339_?)del deletion Tuberous sclerosis 1 [RCV001949254] Chr9:135802568..135804339 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2156T>C (p.Leu719Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001911974] Chr9:132903703 [GRCh38]
Chr9:135779090 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1918G>A (p.Val640Met) single nucleotide variant Tuberous sclerosis 1 [RCV001929519] Chr9:132905660 [GRCh38]
Chr9:135781047 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.212A>G (p.His71Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002043607] Chr9:132925738 [GRCh38]
Chr9:135801125 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002009175] Chr9:132897271 [GRCh38]
Chr9:135772658 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135797196)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV001948639] Chr9:135797196..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001909433] Chr9:132896389 [GRCh38]
Chr9:135771776 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135819930)_(135942602_?)dup duplication Tuberous sclerosis 1 [RCV001893715] Chr9:135819930..135942602 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.526del (p.Tyr176fs) deletion Tuberous sclerosis 1 [RCV001983024] Chr9:132921956 [GRCh38]
Chr9:135797343 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs) deletion Tuberous sclerosis 1 [RCV001908534] Chr9:132902754..132902755 [GRCh38]
Chr9:135778141..135778142 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441120]|Tuberous sclerosis 1 [RCV001966207] Chr9:132897442 [GRCh38]
Chr9:135772829 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170339]|Tuberous sclerosis 1 [RCV002021963] Chr9:132907315 [GRCh38]
Chr9:135782702 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2814-18C>T single nucleotide variant Tuberous sclerosis 1 [RCV001967526] Chr9:132897363 [GRCh38]
Chr9:135772750 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.775T>C (p.Cys259Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001927049] Chr9:132912420 [GRCh38]
Chr9:135787807 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1516C>A (p.Pro506Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001983407] Chr9:132906062 [GRCh38]
Chr9:135781449 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000368.5(TSC1):c.1382_1385del (p.Gly461fs) deletion Tuberous sclerosis 1 [RCV001946631] Chr9:132906784..132906787 [GRCh38]
Chr9:135782171..135782174 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001926590] Chr9:132902710 [GRCh38]
Chr9:135778097 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1105C>G (p.Leu369Val) single nucleotide variant Tuberous sclerosis 1 [RCV001968868] Chr9:132911038 [GRCh38]
Chr9:135786425 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1565C>G (p.Ala522Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002023061] Chr9:132906013 [GRCh38]
Chr9:135781400 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.37A>G (p.Met13Val) single nucleotide variant Tuberous sclerosis 1 [RCV002020927] Chr9:132928836 [GRCh38]
Chr9:135804223 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440904]|Tuberous sclerosis 1 [RCV002041400] Chr9:132897275 [GRCh38]
Chr9:135772662 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370345]|Tuberous sclerosis 1 [RCV001837268] Chr9:132907352 [GRCh38]
Chr9:135782739 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001892040] Chr9:132905803 [GRCh38]
Chr9:135781190 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+4A>G single nucleotide variant Tuberous sclerosis 1 [RCV002041474] Chr9:132905577 [GRCh38]
Chr9:135780964 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.375C>A (p.Asp125Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001984030] Chr9:132923481 [GRCh38]
Chr9:135798868 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1517C>A (p.Pro506His) single nucleotide variant Tuberous sclerosis 1 [RCV002005781] Chr9:132906061 [GRCh38]
Chr9:135781448 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.678T>A (p.His226Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002041091] Chr9:132921422 [GRCh38]
Chr9:135796809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002003255] Chr9:132896266 [GRCh38]
Chr9:135771653 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1514C>G (p.Ser505Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001968501] Chr9:132906064 [GRCh38]
Chr9:135781451 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val) single nucleotide variant Tuberous sclerosis 1 [RCV002022871] Chr9:132901672 [GRCh38]
Chr9:135777059 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.503A>G (p.Lys168Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001965755] Chr9:132923353 [GRCh38]
Chr9:135798740 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+9T>A single nucleotide variant Tuberous sclerosis 1 [RCV001985804] Chr9:132912273 [GRCh38]
Chr9:135787660 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1096C>T (p.Pro366Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001892850] Chr9:132911047 [GRCh38]
Chr9:135786434 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.625A>T (p.Met209Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001927754] Chr9:132921857 [GRCh38]
Chr9:135797244 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1361T>C (p.Val454Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001948806] Chr9:132906808 [GRCh38]
Chr9:135782195 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.566A>T (p.His189Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001968183] Chr9:132921916 [GRCh38]
Chr9:135797303 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423056]|Tuberous sclerosis 1 [RCV001914333] Chr9:132911070 [GRCh38]
Chr9:135786457 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001872967] Chr9:132911538 [GRCh38]
Chr9:135786925 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1439-10_1439-3del microsatellite Hereditary cancer-predisposing syndrome [RCV003303495]|Tuberous sclerosis 1 [RCV002007610] Chr9:132906142..132906149 [GRCh38]
Chr9:135781529..135781536 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1748C>T (p.Pro583Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001928594] Chr9:132905830 [GRCh38]
Chr9:135781217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001970263] Chr9:132905677 [GRCh38]
Chr9:135781064 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1215C>G (p.Asp405Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002004229] Chr9:132910619 [GRCh38]
Chr9:135786006 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1586C>T (p.Ala529Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255703]|Tuberous sclerosis 1 [RCV001945567] Chr9:132905992 [GRCh38]
Chr9:135781379 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508+17A>G single nucleotide variant Tuberous sclerosis 1 [RCV001892410] Chr9:132923331 [GRCh38]
Chr9:135798718 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1573A>C (p.Ser525Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001908631] Chr9:132906005 [GRCh38]
Chr9:135781392 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135819930)_(135946065_?)dup duplication Tuberous sclerosis 1 [RCV001913773] Chr9:135819930..135946065 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs) duplication Tuberous sclerosis 1 [RCV001890177] Chr9:132905725..132905726 [GRCh38]
Chr9:135781112..135781113 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001894362] Chr9:132897244 [GRCh38]
Chr9:135772631 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441028]|Tuberous sclerosis 1 [RCV001928328] Chr9:132925678 [GRCh38]
Chr9:135801065 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.267C>G (p.Ile89Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375402]|Tuberous sclerosis 1 [RCV001890396] Chr9:132925683 [GRCh38]
Chr9:135801070 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441173]|Tuberous sclerosis 1 [RCV001984153] Chr9:132897433 [GRCh38]
Chr9:135772820 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002006228] Chr9:132903694 [GRCh38]
Chr9:135779081 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170272]|Tuberous sclerosis 1 [RCV001969262]|not provided [RCV002307822] Chr9:132923398 [GRCh38]
Chr9:135798785 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu) inversion Tuberous sclerosis 1 [RCV001914159] Chr9:132901592..132901593 [GRCh38]
Chr9:135776979..135776980 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1172del (p.Pro391fs) deletion Tuberous sclerosis 1 [RCV001984676] Chr9:132910662 [GRCh38]
Chr9:135786049 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443034]|Tuberous sclerosis 1 [RCV002022743] Chr9:132901674 [GRCh38]
Chr9:135777061 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001893171] Chr9:132897217 [GRCh38]
Chr9:135772604 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.877A>G (p.Thr293Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002023544] Chr9:132912318 [GRCh38]
Chr9:135787705 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs) deletion Tuberous sclerosis 1 [RCV001913590] Chr9:132896530..132896531 [GRCh38]
Chr9:135771917..135771918 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1724C>A (p.Ser575Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001987168] Chr9:132905854 [GRCh38]
Chr9:135781241 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1685C>T (p.Ala562Val) single nucleotide variant Tuberous sclerosis 1 [RCV001966704] Chr9:132905893 [GRCh38]
Chr9:135781280 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1532del (p.Ser511fs) deletion Tuberous sclerosis 1 [RCV001912451] Chr9:132906046 [GRCh38]
Chr9:135781433 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001967351] Chr9:132896452 [GRCh38]
Chr9:135771839 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.737+4T>C single nucleotide variant Tuberous sclerosis 1 [RCV002006870] Chr9:132921359 [GRCh38]
Chr9:135796746 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1412del (p.Asp471fs) deletion Tuberous sclerosis 1 [RCV001947685] Chr9:132906757 [GRCh38]
Chr9:135782144 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1029+1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001913520] Chr9:132911452 [GRCh38]
Chr9:135786839 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164193]|Tuberous sclerosis 1 [RCV001894726] Chr9:132907325 [GRCh38]
Chr9:135782712 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442968]|Tuberous sclerosis 1 [RCV001969527] Chr9:132896684 [GRCh38]
Chr9:135772071 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386674]|Tuberous sclerosis 1 [RCV001911154] Chr9:132906799 [GRCh38]
Chr9:135782186 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.476G>A (p.Gly159Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001889248] Chr9:132923380 [GRCh38]
Chr9:135798767 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2208+13G>T single nucleotide variant Tuberous sclerosis 1 [RCV001908465] Chr9:132903638 [GRCh38]
Chr9:135779025 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003289351]|Tuberous sclerosis 1 [RCV002006203] Chr9:132923443 [GRCh38]
Chr9:135798830 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388941]|Tuberous sclerosis 1 [RCV001985706] Chr9:132906757 [GRCh38]
Chr9:135782144 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-3C>T single nucleotide variant Tuberous sclerosis 1 [RCV002006791] Chr9:132906142 [GRCh38]
Chr9:135781529 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001908916] Chr9:132925736 [GRCh38]
Chr9:135801123 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398007]|Lymphangiomyomatosis [RCV002492111]|Tuberous sclerosis 1 [RCV002004977] Chr9:132905824 [GRCh38]
Chr9:135781211 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001903784]|not provided [RCV002051982] Chr9:132897211 [GRCh38]
Chr9:135772598 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1944dup (p.Leu649fs) duplication Tuberous sclerosis 1 [RCV001941752] Chr9:132905633..132905634 [GRCh38]
Chr9:135781020..135781021 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001943848] Chr9:132905763 [GRCh38]
Chr9:135781150 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.385C>T (p.Leu129Phe) single nucleotide variant Tuberous sclerosis 1 [RCV002000333] Chr9:132923471 [GRCh38]
Chr9:135798858 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1034C>T (p.Thr345Ile) single nucleotide variant TSC1-related condition [RCV003416635]|Tuberous sclerosis 1 [RCV001944039] Chr9:132911109 [GRCh38]
Chr9:135786496 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001941240] Chr9:132896440 [GRCh38]
Chr9:135771827 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135775735)_(135820530_?)del deletion Tuberous sclerosis 1 [RCV001962890] Chr9:135775735..135820530 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001942701] Chr9:132905741 [GRCh38]
Chr9:135781128 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003166934]|Tuberous sclerosis 1 [RCV001905728] Chr9:132910632 [GRCh38]
Chr9:135786019 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.275T>G (p.Leu92Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001942258] Chr9:132925675 [GRCh38]
Chr9:135801062 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1102G>C (p.Asp368His) single nucleotide variant Tuberous sclerosis 1 [RCV001944564] Chr9:132911041 [GRCh38]
Chr9:135786428 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter) duplication Tuberous sclerosis 1 [RCV001944574] Chr9:132905705..132905706 [GRCh38]
Chr9:135781092..135781093 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002046922] Chr9:132896516 [GRCh38]
Chr9:135771903 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001942383] Chr9:132896247 [GRCh38]
Chr9:135771634 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002020220] Chr9:132902642 [GRCh38]
Chr9:135778029 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407161]|Tuberous sclerosis 1 [RCV001980205] Chr9:132905899 [GRCh38]
Chr9:135781286 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001938681] Chr9:132900728 [GRCh38]
Chr9:135776115 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2039del (p.Gly680fs) deletion Tuberous sclerosis 1 [RCV001884087] Chr9:132904413 [GRCh38]
Chr9:135779800 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.692C>G (p.Pro231Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002001289] Chr9:132921408 [GRCh38]
Chr9:135796795 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+4T>C single nucleotide variant Tuberous sclerosis 1 [RCV002001297] Chr9:132911449 [GRCh38]
Chr9:135786836 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+4T>A single nucleotide variant Tuberous sclerosis 1 [RCV001886611] Chr9:132900711 [GRCh38]
Chr9:135776098 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-1del deletion Tuberous sclerosis 1 [RCV001991366] Chr9:132901700 [GRCh38]
Chr9:135777087 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.676C>T (p.His226Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV002013260] Chr9:132921424 [GRCh38]
Chr9:135796811 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.649G>C (p.Glu217Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001954700] Chr9:132921833 [GRCh38]
Chr9:135797220 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1918dup (p.Val640fs) duplication Tuberous sclerosis 1 [RCV001956052] Chr9:132905659..132905660 [GRCh38]
Chr9:135781046..135781047 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2033del (p.His678fs) deletion Tuberous sclerosis 1 [RCV001956057] Chr9:132904419 [GRCh38]
Chr9:135779806 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.147C>G (p.Tyr49Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001902215] Chr9:132927264 [GRCh38]
Chr9:135802651 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1264-16A>G single nucleotide variant Tuberous sclerosis 1 [RCV002031226] Chr9:132907386 [GRCh38]
Chr9:135782773 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.268C>T (p.Leu90Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001959491] Chr9:132925682 [GRCh38]
Chr9:135801069 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1275G>A (p.Met425Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001941291] Chr9:132907359 [GRCh38]
Chr9:135782746 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508+2T>C single nucleotide variant Tuberous sclerosis 1 [RCV001941863] Chr9:132923346 [GRCh38]
Chr9:135798733 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1936dup (p.Met646fs) duplication Tuberous sclerosis 1 [RCV001942746] Chr9:132905641..132905642 [GRCh38]
Chr9:135781028..135781029 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001884907] Chr9:132905749 [GRCh38]
Chr9:135781136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1192del (p.Ala398fs) deletion Tuberous sclerosis 1 [RCV001944356]|not provided [RCV002246605] Chr9:132910642 [GRCh38]
Chr9:135786029 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1405G>A (p.Glu469Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001883167] Chr9:132906764 [GRCh38]
Chr9:135782151 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2023G>C (p.Asp675His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423041]|Tuberous sclerosis 1 [RCV001921031] Chr9:132904429 [GRCh38]
Chr9:135779816 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.840A>C (p.Gln280His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449474]|Tuberous sclerosis 1 [RCV001887832] Chr9:132912355 [GRCh38]
Chr9:135787742 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001981241] Chr9:132900793 [GRCh38]
Chr9:135776180 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.335T>A (p.Leu112His) single nucleotide variant Tuberous sclerosis 1 [RCV001904735] Chr9:132925615 [GRCh38]
Chr9:135801002 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.642G>T (p.Glu214Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002018990] Chr9:132921840 [GRCh38]
Chr9:135797227 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2556del (p.Leu853fs) deletion Tuberous sclerosis 1 [RCV001941365] Chr9:132900784 [GRCh38]
Chr9:135776171 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1030-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV002037862] Chr9:132911115 [GRCh38]
Chr9:135786502 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.543T>A (p.His181Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002039179] Chr9:132921939 [GRCh38]
Chr9:135797326 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.442A>T (p.Lys148Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001906614] Chr9:132923414 [GRCh38]
Chr9:135798801 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449467]|Tuberous sclerosis 1 [RCV002047510] Chr9:132896674 [GRCh38]
Chr9:135772061 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440920]|Tuberous sclerosis 1 [RCV001866703] Chr9:132897323 [GRCh38]
Chr9:135772710 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164015]|Lymphangiomyomatosis [RCV002506872]|Tuberous sclerosis 1 [RCV002030186]|not provided [RCV003442920] Chr9:132897262 [GRCh38]
Chr9:135772649 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2743_2747del (p.His915fs) deletion Tuberous sclerosis 1 [RCV001994640] Chr9:132897489..132897493 [GRCh38]
Chr9:135772876..135772880 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.247G>A (p.Ala83Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001923422] Chr9:132925703 [GRCh38]
Chr9:135801090 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln) single nucleotide variant Tuberous sclerosis 1 [RCV001906399] Chr9:132896688 [GRCh38]
Chr9:135772075 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.992G>A (p.Ser331Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001883807] Chr9:132911490 [GRCh38]
Chr9:135786877 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002397768]|Tuberous sclerosis 1 [RCV002037501] Chr9:132905976 [GRCh38]
Chr9:135781363 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.148C>G (p.Leu50Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388820]|Tuberous sclerosis 1 [RCV001938000] Chr9:132927263 [GRCh38]
Chr9:135802650 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+10A>G single nucleotide variant Tuberous sclerosis 1 [RCV001938069] Chr9:132928757 [GRCh38]
Chr9:135804144 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.337_338del (p.Leu113fs) deletion Tuberous sclerosis 1 [RCV001933452] Chr9:132925612..132925613 [GRCh38]
Chr9:135800999..135801000 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135796740)_(135820530_?)dup duplication Tuberous sclerosis 1 [RCV002014016] Chr9:135796740..135820530 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303667]|Tuberous sclerosis 1 [RCV002028050] Chr9:132896239 [GRCh38]
Chr9:135771626 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458893]|Tuberous sclerosis 1 [RCV001954077] Chr9:132897568 [GRCh38]
Chr9:135772955 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002046608] Chr9:132902709 [GRCh38]
Chr9:135778096 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001933525] Chr9:132903749 [GRCh38]
Chr9:135779136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1597C>G (p.Pro533Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002050513] Chr9:132905981 [GRCh38]
Chr9:135781368 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV001972674] Chr9:132912458 [GRCh38]
Chr9:135787845 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.838C>G (p.Gln280Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002049505] Chr9:132912357 [GRCh38]
Chr9:135787744 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1031C>G (p.Ala344Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001936352] Chr9:132911112 [GRCh38]
Chr9:135786499 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1342C>A (p.Pro448Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001916538] Chr9:132906827 [GRCh38]
Chr9:135782214 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458957]|Tuberous sclerosis 1 [RCV001992257] Chr9:132896351 [GRCh38]
Chr9:135771738 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1088G>A (p.Gly363Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001867338] Chr9:132911055 [GRCh38]
Chr9:135786442 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1334A>G (p.Glu445Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001877589] Chr9:132906835 [GRCh38]
Chr9:135782222 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331472]|Tuberous sclerosis 1 [RCV001933714]|not provided [RCV002274234] Chr9:132896318 [GRCh38]
Chr9:135771705 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001979324] Chr9:132905659 [GRCh38]
Chr9:135781046 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+4del deletion Tuberous sclerosis 1 [RCV001867340] Chr9:132905577 [GRCh38]
Chr9:135780964 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.13G>A (p.Ala5Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002013000] Chr9:132928860 [GRCh38]
Chr9:135804247 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001867394] Chr9:132897525 [GRCh38]
Chr9:135772912 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.176A>C (p.His59Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001974278] Chr9:132927235 [GRCh38]
Chr9:135802622 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440911]|Tuberous sclerosis 1 [RCV002047105] Chr9:132897298 [GRCh38]
Chr9:135772685 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.544G>A (p.Ala182Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001993922] Chr9:132921938 [GRCh38]
Chr9:135797325 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-10C>G single nucleotide variant Tuberous sclerosis 1 [RCV002051540] Chr9:132901709 [GRCh38]
Chr9:135777096 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303677]|Tuberous sclerosis 1 [RCV002032195] Chr9:132925658 [GRCh38]
Chr9:135801045 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001882374] Chr9:132902606 [GRCh38]
Chr9:135777993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His) single nucleotide variant Tuberous sclerosis 1 [RCV001992771] Chr9:132896596 [GRCh38]
Chr9:135771983 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.885C>G (p.Ser295Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001954839] Chr9:132912310 [GRCh38]
Chr9:135787697 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1304A>G (p.Gln435Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002050062] Chr9:132907330 [GRCh38]
Chr9:135782717 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.676C>G (p.His226Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001879477] Chr9:132921424 [GRCh38]
Chr9:135796811 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001978209] Chr9:132896590 [GRCh38]
Chr9:135771977 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003346714]|Tuberous sclerosis 1 [RCV001866562] Chr9:132912375 [GRCh38]
Chr9:135787762 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2072T>A (p.Leu691His) single nucleotide variant Tuberous sclerosis 1 [RCV002028699] Chr9:132903787 [GRCh38]
Chr9:135779174 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1196C>T (p.Pro399Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001898467] Chr9:132910638 [GRCh38]
Chr9:135786025 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2718A>G (p.Gln906=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425390]|Tuberous sclerosis 1 [RCV001991636] Chr9:132897518 [GRCh38]
Chr9:135772905 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys) single nucleotide variant Tuberous sclerosis 1 [RCV001867813] Chr9:132905795 [GRCh38]
Chr9:135781182 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375550]|Tuberous sclerosis 1 [RCV002028801] Chr9:132903653 [GRCh38]
Chr9:135779040 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2635del (p.Glu878_Met879insTer) deletion Tuberous sclerosis 1 [RCV001951149] Chr9:132897601 [GRCh38]
Chr9:135772988 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.364-1G>T single nucleotide variant Tuberous sclerosis 1 [RCV001899970] Chr9:132923493 [GRCh38]
Chr9:135798880 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1627C>T (p.Leu543Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001870038] Chr9:132905951 [GRCh38]
Chr9:135781338 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.713A>G (p.Lys238Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001995322] Chr9:132921387 [GRCh38]
Chr9:135796774 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.910T>A (p.Tyr304Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001922766] Chr9:132912285 [GRCh38]
Chr9:135787672 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.869C>T (p.Ala290Val) single nucleotide variant Tuberous sclerosis 1 [RCV002009858] Chr9:132912326 [GRCh38]
Chr9:135787713 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1265A>G (p.Glu422Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001919889] Chr9:132907369 [GRCh38]
Chr9:135782756 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388889]|Tuberous sclerosis 1 [RCV001972251] Chr9:132905942 [GRCh38]
Chr9:135781329 [GRCh37]
Chr9:9q34.13		 benign|likely benign|uncertain significance
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del) microsatellite Tuberous sclerosis 1 [RCV002051250] Chr9:132901643..132901645 [GRCh38]
Chr9:135777030..135777032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002029056] Chr9:132896427 [GRCh38]
Chr9:135771814 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458748]|Tuberous sclerosis 1 [RCV001901293] Chr9:132900819 [GRCh38]
Chr9:135776206 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001866850] Chr9:132900719 [GRCh38]
Chr9:135776106 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2762A>G (p.His921Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001920125] Chr9:132897474 [GRCh38]
Chr9:135772861 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001920146] Chr9:132896470 [GRCh38]
Chr9:135771857 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val) single nucleotide variant Tuberous sclerosis 1 [RCV002047855] Chr9:132896531 [GRCh38]
Chr9:135771918 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1305A>C (p.Gln435His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375383]|Tuberous sclerosis 1 [RCV001934865] Chr9:132907329 [GRCh38]
Chr9:135782716 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-10C>A single nucleotide variant Tuberous sclerosis 1 [RCV002014163] Chr9:132921983 [GRCh38]
Chr9:135797370 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1854T>G (p.His618Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002051315] Chr9:132905724 [GRCh38]
Chr9:135781111 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001956858]|not provided [RCV003442979] Chr9:132896685 [GRCh38]
Chr9:135772072 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs) deletion Tuberous sclerosis 1 [RCV001881487] Chr9:132903809..132903813 [GRCh38]
Chr9:135779196..135779200 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2503-10T>A single nucleotide variant Tuberous sclerosis 1 [RCV001958428] Chr9:132900847 [GRCh38]
Chr9:135776234 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001982299] Chr9:132903701 [GRCh38]
Chr9:135779088 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.139del (p.Asp47fs) deletion Tuberous sclerosis 1 [RCV001994576] Chr9:132927272 [GRCh38]
Chr9:135802659 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003167152]|Tuberous sclerosis 1 [RCV001923273] Chr9:132897546 [GRCh38]
Chr9:135772933 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2391+1G>A single nucleotide variant Tuberous sclerosis 1 [RCV001961504] Chr9:132902604 [GRCh38]
Chr9:135777991 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458953]|Isolated focal cortical dysplasia type II [RCV003475276]|Tuberous sclerosis 1 [RCV002028222] Chr9:132896252 [GRCh38]
Chr9:135771639 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1460C>A (p.Ser487Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001900493] Chr9:132906118 [GRCh38]
Chr9:135781505 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.559C>G (p.Leu187Val) single nucleotide variant Tuberous sclerosis 1 [RCV002050714] Chr9:132921923 [GRCh38]
Chr9:135797310 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.582_583dup (p.Tyr195fs) duplication Tuberous sclerosis 1 [RCV001994644] Chr9:132921898..132921899 [GRCh38]
Chr9:135797285..135797286 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.973C>G (p.Gln325Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001975352] Chr9:132911509 [GRCh38]
Chr9:135786896 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.21C>A (p.Val7=) single nucleotide variant Tuberous sclerosis 1 [RCV001972889] Chr9:132928852 [GRCh38]
Chr9:135804239 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2052_2054del (p.Ser685del) deletion Tuberous sclerosis 1 [RCV001954439] Chr9:132903805..132903807 [GRCh38]
Chr9:135779192..135779194 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-3C>T single nucleotide variant Tuberous sclerosis 1 [RCV001961564] Chr9:132901702 [GRCh38]
Chr9:135777089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.762T>A (p.Asp254Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001957813] Chr9:132912433 [GRCh38]
Chr9:135787820 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344130]|Isolated focal cortical dysplasia type II [RCV003464332]|Tuberous sclerosis 1 [RCV001979531] Chr9:132923485 [GRCh38]
Chr9:135798872 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440958]|Tuberous sclerosis 1 [RCV001883348] Chr9:132897432 [GRCh38]
Chr9:135772819 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1226T>C (p.Ile409Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001867561] Chr9:132910608 [GRCh38]
Chr9:135785995 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2109C>G (p.Leu703=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164269]|Tuberous sclerosis 1 [RCV001886259] Chr9:132903750 [GRCh38]
Chr9:135779137 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.107A>G (p.Asp36Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001876614] Chr9:132927304 [GRCh38]
Chr9:135802691 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337126]|Tuberous sclerosis 1 [RCV002010873] Chr9:132925603 [GRCh38]
Chr9:135800990 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.922A>G (p.Thr308Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001917009] Chr9:132911560 [GRCh38]
Chr9:135786947 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.721G>T (p.Glu241Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001958692] Chr9:132921379 [GRCh38]
Chr9:135796766 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.989T>G (p.Leu330Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001917061] Chr9:132911493 [GRCh38]
Chr9:135786880 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1744A>T (p.Thr582Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002013509] Chr9:132905834 [GRCh38]
Chr9:135781221 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+5G>C single nucleotide variant Tuberous sclerosis 1 [RCV002016665] Chr9:132925582 [GRCh38]
Chr9:135800969 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001959336] Chr9:132896584 [GRCh38]
Chr9:135771971 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1432G>T (p.Glu478Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001940495] Chr9:132906737 [GRCh38]
Chr9:135782124 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001915803] Chr9:132896672 [GRCh38]
Chr9:135772059 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001899788] Chr9:132905753 [GRCh38]
Chr9:135781140 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.949C>A (p.Leu317Met) single nucleotide variant Tuberous sclerosis 1 [RCV001901075] Chr9:132911533 [GRCh38]
Chr9:135786920 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001990432] Chr9:132903811 [GRCh38]
Chr9:135779198 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.430C>G (p.Pro144Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002051281] Chr9:132923426 [GRCh38]
Chr9:135798813 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001989095] Chr9:132905604 [GRCh38]
Chr9:135780991 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.841A>C (p.Ile281Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001973434] Chr9:132912354 [GRCh38]
Chr9:135787741 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.731C>T (p.Pro244Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001930495] Chr9:132921369 [GRCh38]
Chr9:135796756 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro) single nucleotide variant Tuberous sclerosis 1 [RCV001865069] Chr9:132897468 [GRCh38]
Chr9:135772855 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1749del (p.Ser584fs) deletion Tuberous sclerosis 1 [RCV001956342] Chr9:132905829 [GRCh38]
Chr9:135781216 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001924880] Chr9:132896616 [GRCh38]
Chr9:135772003 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.35C>T (p.Ala12Val) single nucleotide variant Tuberous sclerosis 1 [RCV002019185] Chr9:132928838 [GRCh38]
Chr9:135804225 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1372G>C (p.Asp458His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003299048]|Tuberous sclerosis 1 [RCV001866825] Chr9:132906797 [GRCh38]
Chr9:135782184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508+6G>A single nucleotide variant Tuberous sclerosis 1 [RCV001978213] Chr9:132923342 [GRCh38]
Chr9:135798729 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.755C>T (p.Thr252Ile) single nucleotide variant Tuberous sclerosis 1 [RCV001907318] Chr9:132912440 [GRCh38]
Chr9:135787827 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.559C>T (p.Leu187Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001917541] Chr9:132921923 [GRCh38]
Chr9:135797310 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter) duplication Tuberous sclerosis 1 [RCV001900123] Chr9:132902691..132902692 [GRCh38]
Chr9:135778078..135778079 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.694G>A (p.Glu232Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001881061] Chr9:132921406 [GRCh38]
Chr9:135796793 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.23G>A (p.Gly8Glu) single nucleotide variant Tuberous sclerosis 1 [RCV001886145] Chr9:132928850 [GRCh38]
Chr9:135804237 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1001C>G (p.Ser334Trp) single nucleotide variant Tuberous sclerosis 1 [RCV001886159] Chr9:132911481 [GRCh38]
Chr9:135786868 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+5A>G single nucleotide variant Tuberous sclerosis 1 [RCV001932154] Chr9:132912277 [GRCh38]
Chr9:135787664 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val) single nucleotide variant Tuberous sclerosis 1 [RCV002031564] Chr9:132897462 [GRCh38]
Chr9:135772849 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001978343] Chr9:132912344 [GRCh38]
Chr9:135787731 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.24G>T (p.Gly8=) single nucleotide variant Tuberous sclerosis 1 [RCV001940723] Chr9:132928849 [GRCh38]
Chr9:135804236 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1324A>G (p.Arg442Gly) single nucleotide variant Tuberous sclerosis 1 [RCV001886177] Chr9:132907310 [GRCh38]
Chr9:135782697 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1726_1727del (p.Leu576fs) deletion Tuberous sclerosis 1 [RCV001923809] Chr9:132905851..132905852 [GRCh38]
Chr9:135781238..135781239 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442932]|Tuberous sclerosis 1 [RCV001997002] Chr9:132896675 [GRCh38]
Chr9:135772062 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.281G>A (p.Gly94Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001917455] Chr9:132925669 [GRCh38]
Chr9:135801056 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.271T>G (p.Ser91Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002013110] Chr9:132925679 [GRCh38]
Chr9:135801066 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001998077] Chr9:132903712 [GRCh38]
Chr9:135779099 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3418C>T (p.Pro1140Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001959735] Chr9:132896312 [GRCh38]
Chr9:135771699 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1747C>G (p.Pro583Ala) single nucleotide variant Tuberous sclerosis 1 [RCV001925112] Chr9:132905831 [GRCh38]
Chr9:135781218 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423066]|Tuberous sclerosis 1 [RCV001924149] Chr9:132910578 [GRCh38]
Chr9:135785965 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1223A>C (p.His408Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361205]|Tuberous sclerosis 1 [RCV001906425] Chr9:132910611 [GRCh38]
Chr9:135785998 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324393]|Isolated focal cortical dysplasia type II [RCV003475199]|Tuberous sclerosis 1 [RCV001996691] Chr9:132896626 [GRCh38]
Chr9:135772013 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443006]|Tuberous sclerosis 1 [RCV001980434] Chr9:132896689 [GRCh38]
Chr9:135772076 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1718A>G (p.Gln573Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002019250] Chr9:132905860 [GRCh38]
Chr9:135781247 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1998-14A>G single nucleotide variant Tuberous sclerosis 1 [RCV001885589] Chr9:132904468 [GRCh38]
Chr9:135779855 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001940344] Chr9:132905690 [GRCh38]
Chr9:135781077 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458815]|Tuberous sclerosis 1 [RCV001926248] Chr9:132901666 [GRCh38]
Chr9:135777053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1420G>C (p.Glu474Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002018522] Chr9:132906749 [GRCh38]
Chr9:135782136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala) single nucleotide variant Inborn genetic diseases [RCV003167003]|Tuberous sclerosis 1 [RCV001884736] Chr9:132911049 [GRCh38]
Chr9:135786436 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.773_774insTA (p.Glu258fs) insertion Tuberous sclerosis 1 [RCV001939023] Chr9:132912421..132912422 [GRCh38]
Chr9:135787808..135787809 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu) single nucleotide variant Tuberous sclerosis 1 [RCV001981498] Chr9:132903697 [GRCh38]
Chr9:135779084 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002049592] Chr9:132903748 [GRCh38]
Chr9:135779135 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.490T>C (p.Trp164Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001960289] Chr9:132923366 [GRCh38]
Chr9:135798753 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp) single nucleotide variant Tuberous sclerosis 1 [RCV001907470] Chr9:132897276 [GRCh38]
Chr9:135772663 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser) single nucleotide variant Tuberous sclerosis 1 [RCV001884339] Chr9:132896503 [GRCh38]
Chr9:135771890 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1852C>A (p.His618Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001884360] Chr9:132905726 [GRCh38]
Chr9:135781113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV001864746] Chr9:132905726 [GRCh38]
Chr9:135781113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.435G>T (p.Gln145His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331610]|Tuberous sclerosis 1 [RCV002028784] Chr9:132923421 [GRCh38]
Chr9:135798808 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.1997+5G>A single nucleotide variant Tuberous sclerosis 1 [RCV002031440] Chr9:132905576 [GRCh38]
Chr9:135780963 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys) single nucleotide variant Tuberous sclerosis 1 [RCV001973080] Chr9:132896540 [GRCh38]
Chr9:135771927 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.133T>G (p.Leu45Val) single nucleotide variant Tuberous sclerosis 1 [RCV001974735] Chr9:132927278 [GRCh38]
Chr9:135802665 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303638]|Tuberous sclerosis 1 [RCV002011487] Chr9:132925589 [GRCh38]
Chr9:135800976 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1692_1693dup (p.Ser565fs) duplication Tuberous sclerosis 1 [RCV001994527] Chr9:132905884..132905885 [GRCh38]
Chr9:135781271..135781272 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1424A>G (p.Lys475Arg) single nucleotide variant Tuberous sclerosis 1 [RCV001977547] Chr9:132906745 [GRCh38]
Chr9:135782132 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1012A>G (p.Ile338Val) single nucleotide variant Tuberous sclerosis 1 [RCV001973137] Chr9:132911470 [GRCh38]
Chr9:135786857 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.995C>T (p.Ser332Phe) single nucleotide variant Tuberous sclerosis 1 [RCV001956683] Chr9:132911487 [GRCh38]
Chr9:135786874 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1853A>G (p.His618Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170465]|Tuberous sclerosis 1 [RCV001989293] Chr9:132905725 [GRCh38]
Chr9:135781112 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346297]|Tuberous sclerosis 1 [RCV002026441] Chr9:132921953 [GRCh38]
Chr9:135797340 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter) single nucleotide variant Tuberous sclerosis 1 [RCV001877609] Chr9:132896282 [GRCh38]
Chr9:135771669 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.737+6G>A single nucleotide variant Tuberous sclerosis 1 [RCV001935246] Chr9:132921357 [GRCh38]
Chr9:135796744 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002458649]|Tuberous sclerosis 1 [RCV002047260] Chr9:132900762 [GRCh38]
Chr9:135776149 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.211-18_211-10dup duplication Tuberous sclerosis 1 [RCV001991163] Chr9:132925748..132925749 [GRCh38]
Chr9:135801135..135801136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.470T>C (p.Ile157Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002012723] Chr9:132923386 [GRCh38]
Chr9:135798773 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.486del (p.Ser163fs) deletion Tuberous sclerosis 1 [RCV001919019] Chr9:132923370 [GRCh38]
Chr9:135798757 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375484]|Tuberous sclerosis 1 [RCV001958494] Chr9:132925718 [GRCh38]
Chr9:135801105 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1000T>A (p.Ser334Thr) single nucleotide variant Tuberous sclerosis 1 [RCV001900304] Chr9:132911482 [GRCh38]
Chr9:135786869 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1178C>A (p.Thr393Asn) single nucleotide variant Tuberous sclerosis 1 [RCV001958325] Chr9:132910656 [GRCh38]
Chr9:135786043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1374T>A (p.Asp458Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002047610] Chr9:132906795 [GRCh38]
Chr9:135782182 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361411]|Tuberous sclerosis 1 [RCV002027736] Chr9:132910605 [GRCh38]
Chr9:135785992 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170147]|Tuberous sclerosis 1 [RCV002014690] Chr9:132897196 [GRCh38]
Chr9:135772583 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-18A>G single nucleotide variant Tuberous sclerosis 1 [RCV001989442] Chr9:132921991 [GRCh38]
Chr9:135797378 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442966]|Tuberous sclerosis 1 [RCV001973393] Chr9:132907365 [GRCh38]
Chr9:135782752 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val) single nucleotide variant Tuberous sclerosis 1 [RCV002027822] Chr9:132896629 [GRCh38]
Chr9:135772016 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-20T>G single nucleotide variant Tuberous sclerosis 1 [RCV002028631]|not provided [RCV002223335] Chr9:132900857 [GRCh38]
Chr9:135776244 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1679dup (p.Ser561fs) duplication Tuberous sclerosis 1 [RCV001972449] Chr9:132905898..132905899 [GRCh38]
Chr9:135781285..135781286 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1998-16A>T single nucleotide variant Tuberous sclerosis 1 [RCV002192259] Chr9:132904470 [GRCh38]
Chr9:135779857 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-8C>T single nucleotide variant Tuberous sclerosis 1 [RCV002186005] Chr9:132911121 [GRCh38]
Chr9:135786508 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+9T>G single nucleotide variant Tuberous sclerosis 1 [RCV002167893] Chr9:132903642 [GRCh38]
Chr9:135779029 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+20C>G single nucleotide variant Tuberous sclerosis 1 [RCV002090675] Chr9:132903631 [GRCh38]
Chr9:135779018 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-19T>C single nucleotide variant Tuberous sclerosis 1 [RCV002105165] Chr9:132904473 [GRCh38]
Chr9:135779860 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-20A>G single nucleotide variant Tuberous sclerosis 1 [RCV002207512] Chr9:132902807 [GRCh38]
Chr9:135778194 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1834T>C (p.Leu612=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409546]|Tuberous sclerosis 1 [RCV002086275] Chr9:132905744 [GRCh38]
Chr9:135781131 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-19G>A single nucleotide variant Tuberous sclerosis 1 [RCV002167151] Chr9:132897364 [GRCh38]
Chr9:135772751 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1029+19T>C single nucleotide variant Tuberous sclerosis 1 [RCV002129151] Chr9:132911434 [GRCh38]
Chr9:135786821 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+13C>T single nucleotide variant Tuberous sclerosis 1 [RCV002166550] Chr9:132904398 [GRCh38]
Chr9:135779785 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+9G>C single nucleotide variant Tuberous sclerosis 1 [RCV002108856] Chr9:132900706 [GRCh38]
Chr9:135776093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+20T>C single nucleotide variant Tuberous sclerosis 1 [RCV002076065] Chr9:132921799 [GRCh38]
Chr9:135797186 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+7C>T single nucleotide variant Tuberous sclerosis 1 [RCV002091005] Chr9:132900708 [GRCh38]
Chr9:135776095 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+16A>T single nucleotide variant Tuberous sclerosis 1 [RCV002110878] Chr9:132905565 [GRCh38]
Chr9:135780952 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1638C>T (p.Asp546=) single nucleotide variant Tuberous sclerosis 1 [RCV002074617] Chr9:132905940 [GRCh38]
Chr9:135781327 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1270A>C (p.Arg424=) single nucleotide variant Tuberous sclerosis 1 [RCV002106401] Chr9:132907364 [GRCh38]
Chr9:135782751 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.552G>A (p.Val184=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346345]|Tuberous sclerosis 1 [RCV002167050] Chr9:132921930 [GRCh38]
Chr9:135797317 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1029+10C>T single nucleotide variant Tuberous sclerosis 1 [RCV002091226] Chr9:132911443 [GRCh38]
Chr9:135786830 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.*280T>C single nucleotide variant not provided [RCV002223404] Chr9:132895955 [GRCh38]
Chr9:135771342 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107-20T>A single nucleotide variant Tuberous sclerosis 1 [RCV002109436] Chr9:132927324 [GRCh38]
Chr9:135802711 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2508A>G (p.Ser836=) single nucleotide variant Tuberous sclerosis 1 [RCV002104790] Chr9:132900832 [GRCh38]
Chr9:135776219 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.156C>T (p.Thr52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398158]|Tuberous sclerosis 1 [RCV002170477] Chr9:132927255 [GRCh38]
Chr9:135802642 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.957G>A (p.Leu319=) single nucleotide variant Tuberous sclerosis 1 [RCV002107081] Chr9:132911525 [GRCh38]
Chr9:135786912 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.363+17G>T single nucleotide variant Tuberous sclerosis 1 [RCV002144863] Chr9:132925570 [GRCh38]
Chr9:135800957 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-11T>C single nucleotide variant Tuberous sclerosis 1 [RCV002111584] Chr9:132911579 [GRCh38]
Chr9:135786966 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2031C>T (p.Thr677=) single nucleotide variant Tuberous sclerosis 1 [RCV002108722] Chr9:132904421 [GRCh38]
Chr9:135779808 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1107G>T (p.Leu369=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303684]|TSC1-related condition [RCV003958482]|Tuberous sclerosis 1 [RCV002092213] Chr9:132911036 [GRCh38]
Chr9:135786423 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+17A>G single nucleotide variant Tuberous sclerosis 1 [RCV002208673] Chr9:132904394 [GRCh38]
Chr9:135779781 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-11G>A single nucleotide variant Tuberous sclerosis 1 [RCV002208677] Chr9:132902798 [GRCh38]
Chr9:135778185 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+13G>A single nucleotide variant Tuberous sclerosis 1 [RCV002191000] Chr9:132906718 [GRCh38]
Chr9:135782105 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.396C>A (p.Gly132=) single nucleotide variant Tuberous sclerosis 1 [RCV002168528] Chr9:132923460 [GRCh38]
Chr9:135798847 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-13G>A single nucleotide variant Tuberous sclerosis 1 [RCV002090913] Chr9:132900850 [GRCh38]
Chr9:135776237 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+10G>A single nucleotide variant Tuberous sclerosis 1 [RCV002168679] Chr9:132912272 [GRCh38]
Chr9:135787659 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+14G>C single nucleotide variant Tuberous sclerosis 1 [RCV002205868] Chr9:132921805 [GRCh38]
Chr9:135797192 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1264-17G>T single nucleotide variant Tuberous sclerosis 1 [RCV002207564] Chr9:132907387 [GRCh38]
Chr9:135782774 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.637C>T (p.Leu213=) single nucleotide variant Tuberous sclerosis 1 [RCV002090374] Chr9:132921845 [GRCh38]
Chr9:135797232 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2082G>A (p.Gln694=) single nucleotide variant Tuberous sclerosis 1 [RCV002189595] Chr9:132903777 [GRCh38]
Chr9:135779164 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+16T>C single nucleotide variant Tuberous sclerosis 1 [RCV002187119] Chr9:132921803 [GRCh38]
Chr9:135797190 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.569_570delinsCT (p.Arg190Pro) indel Tuberous sclerosis 1 [RCV002236392] Chr9:132921912..132921913 [GRCh38]
Chr9:135797299..135797300 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1438+12G>A single nucleotide variant Tuberous sclerosis 1 [RCV002072565] Chr9:132906719 [GRCh38]
Chr9:135782106 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.660C>G (p.Val220=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255722]|Tuberous sclerosis 1 [RCV002167056] Chr9:132921822 [GRCh38]
Chr9:135797209 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-17T>C single nucleotide variant Tuberous sclerosis 1 [RCV002090574] Chr9:132925756 [GRCh38]
Chr9:135801143 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-13G>C single nucleotide variant Tuberous sclerosis 1 [RCV002088112] Chr9:132896767 [GRCh38]
Chr9:135772154 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-20T>C single nucleotide variant Tuberous sclerosis 1 [RCV002205457] Chr9:132900857 [GRCh38]
Chr9:135776244 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+19A>G single nucleotide variant Tuberous sclerosis 1 [RCV002209379] Chr9:132912263 [GRCh38]
Chr9:135787650 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+20T>C single nucleotide variant Tuberous sclerosis 1 [RCV002207947] Chr9:132906711 [GRCh38]
Chr9:135782098 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+9G>T single nucleotide variant Tuberous sclerosis 1 [RCV002087156] Chr9:132900706 [GRCh38]
Chr9:135776093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=) single nucleotide variant Tuberous sclerosis 1 [RCV002126208] Chr9:132896619 [GRCh38]
Chr9:135772006 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2424G>T (p.Ala808=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454572]|Tuberous sclerosis 1 [RCV002188989] Chr9:132901667 [GRCh38]
Chr9:135777054 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.657G>A (p.Val219=) single nucleotide variant Tuberous sclerosis 1 [RCV002145074] Chr9:132921825 [GRCh38]
Chr9:135797212 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.664-10A>C single nucleotide variant not provided [RCV002226094] Chr9:132921446 [GRCh38]
Chr9:135796833 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-15C>T single nucleotide variant Tuberous sclerosis 1 [RCV002186059] Chr9:132896769 [GRCh38]
Chr9:135772156 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-16A>C single nucleotide variant Tuberous sclerosis 1 [RCV002190208] Chr9:132904470 [GRCh38]
Chr9:135779857 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1986G>A (p.Lys662=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375600]|Tuberous sclerosis 1 [RCV002166301] Chr9:132905592 [GRCh38]
Chr9:135780979 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+20A>C single nucleotide variant Tuberous sclerosis 1 [RCV002092071] Chr9:132921343 [GRCh38]
Chr9:135796730 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1710G>A (p.Arg570=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398240]|Tuberous sclerosis 1 [RCV002130093] Chr9:132905868 [GRCh38]
Chr9:135781255 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3363G>T (p.Leu1121=) single nucleotide variant Tuberous sclerosis 1 [RCV002075173] Chr9:132896367 [GRCh38]
Chr9:135771754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+9C>A single nucleotide variant Tuberous sclerosis 1 [RCV002166271] Chr9:132923339 [GRCh38]
Chr9:135798726 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2853G>A (p.Gln951=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434534]|Tuberous sclerosis 1 [RCV002079553] Chr9:132897306 [GRCh38]
Chr9:135772693 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-13T>C single nucleotide variant Tuberous sclerosis 1 [RCV002215944] Chr9:132901712 [GRCh38]
Chr9:135777099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002105968] Chr9:132910557 [GRCh38]
Chr9:135785944 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2490G>A (p.Gln830=) single nucleotide variant Tuberous sclerosis 1 [RCV002172545] Chr9:132901601 [GRCh38]
Chr9:135776988 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+20C>G single nucleotide variant Tuberous sclerosis 1 [RCV002080925] Chr9:132900695 [GRCh38]
Chr9:135776082 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+20A>G single nucleotide variant Tuberous sclerosis 1 [RCV002124704] Chr9:132921343 [GRCh38]
Chr9:135796730 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) single nucleotide variant Tuberous sclerosis 1 [RCV002087838] Chr9:132906801 [GRCh38]
Chr9:135782188 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1029+17T>C single nucleotide variant Tuberous sclerosis 1 [RCV002167128] Chr9:132911436 [GRCh38]
Chr9:135786823 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+8T>C single nucleotide variant Tuberous sclerosis 1 [RCV002152470] Chr9:132923340 [GRCh38]
Chr9:135798727 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+17G>A single nucleotide variant Tuberous sclerosis 1 [RCV002184984] Chr9:132900698 [GRCh38]
Chr9:135776085 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002187061] Chr9:132901716 [GRCh38]
Chr9:135777103 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2391+12A>C single nucleotide variant Tuberous sclerosis 1 [RCV002188176] Chr9:132902593 [GRCh38]
Chr9:135777980 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.816A>G (p.Glu272=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423337]|Tuberous sclerosis 1 [RCV002216146] Chr9:132912379 [GRCh38]
Chr9:135787766 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.107-7G>A single nucleotide variant Tuberous sclerosis 1 [RCV002214933]|not provided [RCV003886558] Chr9:132927311 [GRCh38]
Chr9:135802698 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2442G>A (p.Leu814=) single nucleotide variant Tuberous sclerosis 1 [RCV002153081] Chr9:132901649 [GRCh38]
Chr9:135777036 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1518C>G (p.Pro506=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391330]|Tuberous sclerosis 1 [RCV002146191] Chr9:132906060 [GRCh38]
Chr9:135781447 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1866G>A (p.Arg622=) single nucleotide variant Tuberous sclerosis 1 [RCV002208154] Chr9:132905712 [GRCh38]
Chr9:135781099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+18G>A single nucleotide variant Tuberous sclerosis 1 [RCV002197505] Chr9:132921801 [GRCh38]
Chr9:135797188 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1141+19G>C single nucleotide variant Tuberous sclerosis 1 [RCV002071399] Chr9:132910983 [GRCh38]
Chr9:135786370 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1851T>C (p.His617=) single nucleotide variant Tuberous sclerosis 1 [RCV002109791] Chr9:132905727 [GRCh38]
Chr9:135781114 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1746T>G (p.Thr582=) single nucleotide variant Tuberous sclerosis 1 [RCV002193828] Chr9:132905832 [GRCh38]
Chr9:135781219 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2391+12A>G single nucleotide variant Tuberous sclerosis 1 [RCV002097367]|not provided [RCV003326610] Chr9:132902593 [GRCh38]
Chr9:135777980 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.567T>C (p.His189=) single nucleotide variant Tuberous sclerosis 1 [RCV002097624] Chr9:132921915 [GRCh38]
Chr9:135797302 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002187497] Chr9:132900701 [GRCh38]
Chr9:135776088 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1206T>C (p.His402=) single nucleotide variant Tuberous sclerosis 1 [RCV002169710] Chr9:132910628 [GRCh38]
Chr9:135786015 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2832A>G (p.Ala944=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434519]|Tuberous sclerosis 1 [RCV002152103] Chr9:132897327 [GRCh38]
Chr9:135772714 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-24_1998-9dup duplication Tuberous sclerosis 1 [RCV002097391] Chr9:132904462..132904463 [GRCh38]
Chr9:135779849..135779850 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161404]|Tuberous sclerosis 1 [RCV002216275] Chr9:132896457 [GRCh38]
Chr9:135771844 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1141+17T>C single nucleotide variant Tuberous sclerosis 1 [RCV002185479] Chr9:132910985 [GRCh38]
Chr9:135786372 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2868G>A (p.Gln956=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441266]|Tuberous sclerosis 1 [RCV002173455] Chr9:132897291 [GRCh38]
Chr9:135772678 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.846A>G (p.Ser282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256934]|Tuberous sclerosis 1 [RCV002131894] Chr9:132912349 [GRCh38]
Chr9:135787736 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-17T>C single nucleotide variant Tuberous sclerosis 1 [RCV002174043] Chr9:132897362 [GRCh38]
Chr9:135772749 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.726G>C (p.Leu242=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003365698]|Tuberous sclerosis 1 [RCV002110265] Chr9:132921374 [GRCh38]
Chr9:135796761 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+13A>G single nucleotide variant Tuberous sclerosis 1 [RCV002095930] Chr9:132897171 [GRCh38]
Chr9:135772558 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-12C>A single nucleotide variant Tuberous sclerosis 1 [RCV002173200] Chr9:132910704 [GRCh38]
Chr9:135786091 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+17G>T single nucleotide variant Tuberous sclerosis 1 [RCV002194318] Chr9:132912265 [GRCh38]
Chr9:135787652 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-15_509-14delinsCT indel Tuberous sclerosis 1 [RCV002094279] Chr9:132921987..132921988 [GRCh38]
Chr9:135797374..135797375 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2580G>A (p.Glu860=) single nucleotide variant Tuberous sclerosis 1 [RCV002214658] Chr9:132900760 [GRCh38]
Chr9:135776147 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.372T>G (p.Thr124=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346440]|Tuberous sclerosis 1 [RCV002105651] Chr9:132923484 [GRCh38]
Chr9:135798871 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.222C>T (p.Asp74=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308020]|Tuberous sclerosis 1 [RCV002151147] Chr9:132925728 [GRCh38]
Chr9:135801115 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+16T>C single nucleotide variant Tuberous sclerosis 1 [RCV002094416] Chr9:132904395 [GRCh38]
Chr9:135779782 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+9C>G single nucleotide variant Tuberous sclerosis 1 [RCV002097248] Chr9:132905572 [GRCh38]
Chr9:135780959 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002131661] Chr9:132927184 [GRCh38]
Chr9:135802571 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.66G>A (p.Arg22=) single nucleotide variant Tuberous sclerosis 1 [RCV002194622] Chr9:132928807 [GRCh38]
Chr9:135804194 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+12G>T single nucleotide variant Tuberous sclerosis 1 [RCV002096430] Chr9:132897172 [GRCh38]
Chr9:135772559 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+18T>A single nucleotide variant Tuberous sclerosis 1 [RCV002109238] Chr9:132905563 [GRCh38]
Chr9:135780950 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1439-13del deletion Tuberous sclerosis 1 [RCV002186965] Chr9:132906152 [GRCh38]
Chr9:135781539 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.675G>A (p.Glu225=) single nucleotide variant Tuberous sclerosis 1 [RCV002133695] Chr9:132921425 [GRCh38]
Chr9:135796812 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2391+16C>T single nucleotide variant Tuberous sclerosis 1 [RCV002092654] Chr9:132902589 [GRCh38]
Chr9:135777976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.786C>T (p.Ile262=) single nucleotide variant Tuberous sclerosis 1 [RCV002213842] Chr9:132912409 [GRCh38]
Chr9:135787796 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+17G>C single nucleotide variant Tuberous sclerosis 1 [RCV002172974] Chr9:132912265 [GRCh38]
Chr9:135787652 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.561C>T (p.Leu187=) single nucleotide variant Tuberous sclerosis 1 [RCV002133759] Chr9:132921921 [GRCh38]
Chr9:135797308 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.135773000_135773001insCA insertion Tuberous sclerosis 1 [RCV002076361] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2757A>G (p.Lys919=) single nucleotide variant Tuberous sclerosis 1 [RCV002172403] Chr9:132897479 [GRCh38]
Chr9:135772866 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434576]|Tuberous sclerosis 1 [RCV002151814] Chr9:132897557 [GRCh38]
Chr9:135772944 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.156C>G (p.Thr52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003161555]|Tuberous sclerosis 1 [RCV002079560] Chr9:132927255 [GRCh38]
Chr9:135802642 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+18T>C single nucleotide variant Tuberous sclerosis 1 [RCV002113976] Chr9:132905563 [GRCh38]
Chr9:135780950 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002164858] Chr9:132923334 [GRCh38]
Chr9:135798721 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.561C>G (p.Leu187=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003303694]|Tuberous sclerosis 1 [RCV002077663] Chr9:132921921 [GRCh38]
Chr9:135797308 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+15A>G single nucleotide variant Tuberous sclerosis 1 [RCV002174305] Chr9:132927186 [GRCh38]
Chr9:135802573 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-7A>C single nucleotide variant not provided [RCV002214500] Chr9:132911575 [GRCh38]
Chr9:135786962 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-11G>A single nucleotide variant Tuberous sclerosis 1 [RCV002076447] Chr9:132912468 [GRCh38]
Chr9:135787855 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002076481] Chr9:132910709 [GRCh38]
Chr9:135786096 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+11T>G single nucleotide variant Tuberous sclerosis 1 [RCV002170674] Chr9:132912271 [GRCh38]
Chr9:135787658 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-9G>C single nucleotide variant Tuberous sclerosis 1 [RCV002096765] Chr9:132910701 [GRCh38]
Chr9:135786088 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2022C>A (p.Val674=) single nucleotide variant Tuberous sclerosis 1 [RCV002149476] Chr9:132904430 [GRCh38]
Chr9:135779817 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1536C>T (p.Leu512=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003307999]|Lymphangiomyomatosis [RCV002494382]|Tuberous sclerosis 1 [RCV002132755] Chr9:132906042 [GRCh38]
Chr9:135781429 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-18A>C single nucleotide variant Tuberous sclerosis 1 [RCV002215721] Chr9:132902805 [GRCh38]
Chr9:135778192 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-16C>T single nucleotide variant Tuberous sclerosis 1 [RCV002097126] Chr9:132921989 [GRCh38]
Chr9:135797376 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-12C>G single nucleotide variant Tuberous sclerosis 1 [RCV002172632] Chr9:132901711 [GRCh38]
Chr9:135777098 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+19C>A single nucleotide variant Tuberous sclerosis 1 [RCV002104983] Chr9:132906712 [GRCh38]
Chr9:135782099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.900A>G (p.Thr300=) single nucleotide variant Tuberous sclerosis 1 [RCV002185622] Chr9:132912295 [GRCh38]
Chr9:135787682 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2070C>T (p.Thr690=) single nucleotide variant Tuberous sclerosis 1 [RCV002077475] Chr9:132903789 [GRCh38]
Chr9:135779176 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1467C>T (p.Ile489=) single nucleotide variant Tuberous sclerosis 1 [RCV002094487] Chr9:132906111 [GRCh38]
Chr9:135781498 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+19A>G single nucleotide variant Tuberous sclerosis 1 [RCV002095145] Chr9:132921344 [GRCh38]
Chr9:135796731 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+14del deletion Tuberous sclerosis 1 [RCV002078050] Chr9:132906717 [GRCh38]
Chr9:135782104 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+16A>G single nucleotide variant Tuberous sclerosis 1 [RCV002119628] Chr9:132905565 [GRCh38]
Chr9:135780952 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.481C>T (p.Leu161=) single nucleotide variant Tuberous sclerosis 1 [RCV002175638] Chr9:132923375 [GRCh38]
Chr9:135798762 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) single nucleotide variant Tuberous sclerosis 1 [RCV002156313] Chr9:132900718 [GRCh38]
Chr9:135776105 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1893A>T (p.Ala631=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407384]|Tuberous sclerosis 1 [RCV002220934] Chr9:132905685 [GRCh38]
Chr9:135781072 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2601G>A (p.Gln867=) single nucleotide variant TSC1-related condition [RCV003893167]|Tuberous sclerosis 1 [RCV002199956] Chr9:132900739 [GRCh38]
Chr9:135776126 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+12A>G single nucleotide variant Tuberous sclerosis 1 [RCV002081880] Chr9:132927189 [GRCh38]
Chr9:135802576 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1089A>G (p.Gly363=) single nucleotide variant Tuberous sclerosis 1 [RCV002141416] Chr9:132911054 [GRCh38]
Chr9:135786441 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.346T>C (p.Leu116=) single nucleotide variant Tuberous sclerosis 1 [RCV002177795] Chr9:132925604 [GRCh38]
Chr9:135800991 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1334-20T>C single nucleotide variant Tuberous sclerosis 1 [RCV002121951] Chr9:132906855 [GRCh38]
Chr9:135782242 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2217G>A (p.Gln739=) single nucleotide variant Tuberous sclerosis 1 [RCV002181943] Chr9:132902779 [GRCh38]
Chr9:135778166 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-12T>C single nucleotide variant Tuberous sclerosis 1 [RCV002120377] Chr9:132900849 [GRCh38]
Chr9:135776236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2427G>A (p.Glu809=) single nucleotide variant Tuberous sclerosis 1 [RCV002176409] Chr9:132901664 [GRCh38]
Chr9:135777051 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2440C>T (p.Leu814=) single nucleotide variant Lymphangiomyomatosis [RCV003224617]|Tuberous sclerosis 1 [RCV002120576] Chr9:132901651 [GRCh38]
Chr9:135777038 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.18T>C (p.Asn6=) single nucleotide variant Tuberous sclerosis 1 [RCV002118821] Chr9:132928855 [GRCh38]
Chr9:135804242 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+19T>C single nucleotide variant Tuberous sclerosis 1 [RCV002103140] Chr9:132907282 [GRCh38]
Chr9:135782669 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2118T>C (p.Arg706=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416474]|Tuberous sclerosis 1 [RCV002120944] Chr9:132903741 [GRCh38]
Chr9:135779128 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002159418] Chr9:132896768 [GRCh38]
Chr9:135772155 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1748C>G (p.Pro583Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257182] Chr9:132905830 [GRCh38]
Chr9:135781217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2935GAA[1] (p.Glu980_Glu981del) microsatellite Hereditary cancer-predisposing syndrome [RCV002257188] Chr9:132897216..132897221 [GRCh38]
Chr9:135772603..135772608 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3378T>A (p.Gly1126=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257189]|Tuberous sclerosis 1 [RCV003614092] Chr9:132896352 [GRCh38]
Chr9:135771739 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.-143-8T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258530] Chr9:132935103 [GRCh38]
Chr9:135810490 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.564T>C (p.Phe188=) single nucleotide variant Tuberous sclerosis 1 [RCV002137136] Chr9:132921918 [GRCh38]
Chr9:135797305 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-12T>G single nucleotide variant Tuberous sclerosis 1 [RCV002176957] Chr9:132900849 [GRCh38]
Chr9:135776236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1197A>T (p.Pro399=) single nucleotide variant Tuberous sclerosis 1 [RCV002184469] Chr9:132910637 [GRCh38]
Chr9:135786024 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV002246788] Chr9:132905580 [GRCh38]
Chr9:135780967 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1461T>C (p.Ser487=) single nucleotide variant Tuberous sclerosis 1 [RCV002154003] Chr9:132906117 [GRCh38]
Chr9:135781504 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-17C>A single nucleotide variant Tuberous sclerosis 1 [RCV002163326] Chr9:132911130 [GRCh38]
Chr9:135786517 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-14G>T single nucleotide variant Tuberous sclerosis 1 [RCV002216728] Chr9:132921987 [GRCh38]
Chr9:135797374 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1518C>T (p.Pro506=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258391]|Tuberous sclerosis 1 [RCV002154319] Chr9:132906060 [GRCh38]
Chr9:135781447 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2398C>T (p.Leu800=) single nucleotide variant Tuberous sclerosis 1 [RCV002158128] Chr9:132901693 [GRCh38]
Chr9:135777080 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-17C>G single nucleotide variant Tuberous sclerosis 1 [RCV002179438] Chr9:132910709 [GRCh38]
Chr9:135786096 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1128C>G (p.Val376=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319748]|Tuberous sclerosis 1 [RCV002143075] Chr9:132911015 [GRCh38]
Chr9:135786402 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454547]|Tuberous sclerosis 1 [RCV002163667] Chr9:132897587 [GRCh38]
Chr9:135772974 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.107-19T>C single nucleotide variant Tuberous sclerosis 1 [RCV002175968] Chr9:132927323 [GRCh38]
Chr9:135802710 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.789T>C (p.Ser263=) single nucleotide variant Tuberous sclerosis 1 [RCV002154727] Chr9:132912406 [GRCh38]
Chr9:135787793 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1671G>T (p.Leu557=) single nucleotide variant Tuberous sclerosis 1 [RCV002100750] Chr9:132905907 [GRCh38]
Chr9:135781294 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-15C>G single nucleotide variant Tuberous sclerosis 1 [RCV002120275] Chr9:132925754 [GRCh38]
Chr9:135801141 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-18G>C single nucleotide variant Tuberous sclerosis 1 [RCV002154892] Chr9:132925757 [GRCh38]
Chr9:135801144 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1026A>C (p.Pro342=) single nucleotide variant Tuberous sclerosis 1 [RCV002219376] Chr9:132911456 [GRCh38]
Chr9:135786843 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.132C>T (p.Thr44=) single nucleotide variant Tuberous sclerosis 1 [RCV002198732] Chr9:132927279 [GRCh38]
Chr9:135802666 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+13T>G single nucleotide variant Tuberous sclerosis 1 [RCV002162450] Chr9:132921806 [GRCh38]
Chr9:135797193 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+12G>T single nucleotide variant Tuberous sclerosis 1 [RCV002102895] Chr9:132905569 [GRCh38]
Chr9:135780956 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1173A>G (p.Pro391=) single nucleotide variant Tuberous sclerosis 1 [RCV002183954] Chr9:132910661 [GRCh38]
Chr9:135786048 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2169G>A (p.Val723=) single nucleotide variant Tuberous sclerosis 1 [RCV002101084] Chr9:132903690 [GRCh38]
Chr9:135779077 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-14C>G single nucleotide variant Tuberous sclerosis 1 [RCV002164306] Chr9:132896768 [GRCh38]
Chr9:135772155 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-11G>A single nucleotide variant Tuberous sclerosis 1 [RCV002164462] Chr9:132897356 [GRCh38]
Chr9:135772743 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.477C>T (p.Gly159=) single nucleotide variant Tuberous sclerosis 1 [RCV002217921] Chr9:132923379 [GRCh38]
Chr9:135798766 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-13C>T single nucleotide variant Tuberous sclerosis 1 [RCV002159120] Chr9:132897358 [GRCh38]
Chr9:135772745 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-19T>G single nucleotide variant Tuberous sclerosis 1 [RCV002144161] Chr9:132923511 [GRCh38]
Chr9:135798898 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1872T>G (p.Thr624=) single nucleotide variant Tuberous sclerosis 1 [RCV002199378] Chr9:132905706 [GRCh38]
Chr9:135781093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-10_2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002255902] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.663+11A>G single nucleotide variant Tuberous sclerosis 1 [RCV002160704] Chr9:132921808 [GRCh38]
Chr9:135797195 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-14C>T single nucleotide variant Tuberous sclerosis 1 [RCV002083226] Chr9:132923506 [GRCh38]
Chr9:135798893 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-18C>G single nucleotide variant Tuberous sclerosis 1 [RCV002216536] Chr9:132904472 [GRCh38]
Chr9:135779859 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-16C>A single nucleotide variant Tuberous sclerosis 1 [RCV002163023] Chr9:132900853 [GRCh38]
Chr9:135776240 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-20G>T single nucleotide variant Tuberous sclerosis 1 [RCV002199883] Chr9:132901719 [GRCh38]
Chr9:135777106 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1334-16C>T single nucleotide variant Lymphangiomyomatosis [RCV002479859]|Tuberous sclerosis 1 [RCV002184629] Chr9:132906851 [GRCh38]
Chr9:135782238 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002081744] Chr9:132905564 [GRCh38]
Chr9:135780951 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.51C>T (p.Pro17=) single nucleotide variant Tuberous sclerosis 1 [RCV002102200] Chr9:132928822 [GRCh38]
Chr9:135804209 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-19C>T single nucleotide variant Tuberous sclerosis 1 [RCV002200453] Chr9:132902806 [GRCh38]
Chr9:135778193 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-14dup duplication Tuberous sclerosis 1 [RCV002123391] Chr9:132903830..132903831 [GRCh38]
Chr9:135779217..135779218 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+14C>G single nucleotide variant Tuberous sclerosis 1 [RCV002178008] Chr9:132900701 [GRCh38]
Chr9:135776088 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1179C>T (p.Thr393=) single nucleotide variant Tuberous sclerosis 1 [RCV002176222] Chr9:132910655 [GRCh38]
Chr9:135786042 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=) single nucleotide variant Tuberous sclerosis 1 [RCV002120623] Chr9:132896502 [GRCh38]
Chr9:135771889 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1929del (p.Ser644fs) deletion Tuberous sclerosis 1 [RCV002221699]   pathogenic|likely pathogenic
NM_000368.5(TSC1):c.942G>T (p.Thr314=) single nucleotide variant Tuberous sclerosis 1 [RCV002219704] Chr9:132911540 [GRCh38]
Chr9:135786927 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+17T>G single nucleotide variant Tuberous sclerosis 1 [RCV002141527] Chr9:132921802 [GRCh38]
Chr9:135797189 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1264-10A>G single nucleotide variant Tuberous sclerosis 1 [RCV002097763] Chr9:132907380 [GRCh38]
Chr9:135782767 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-4T>G single nucleotide variant Tuberous sclerosis 1 [RCV002182836] Chr9:132925743 [GRCh38]
Chr9:135801130 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1359T>C (p.Ser453=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382443]|Tuberous sclerosis 1 [RCV002161497] Chr9:132906810 [GRCh38]
Chr9:135782197 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+20A>G single nucleotide variant Tuberous sclerosis 1 [RCV002142973] Chr9:132907281 [GRCh38]
Chr9:135782668 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2151G>A (p.Arg717=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427629]|Tuberous sclerosis 1 [RCV002119494] Chr9:132903708 [GRCh38]
Chr9:135779095 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-20C>T single nucleotide variant Tuberous sclerosis 1 [RCV002117677] Chr9:132904474 [GRCh38]
Chr9:135779861 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2916T>C (p.Asp972=) single nucleotide variant Tuberous sclerosis 1 [RCV002119720] Chr9:132897243 [GRCh38]
Chr9:135772630 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.509-13G>A single nucleotide variant Tuberous sclerosis 1 [RCV002199978] Chr9:132921986 [GRCh38]
Chr9:135797373 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1029+12A>G single nucleotide variant Tuberous sclerosis 1 [RCV002081711] Chr9:132911441 [GRCh38]
Chr9:135786828 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.738-18T>G single nucleotide variant Tuberous sclerosis 1 [RCV002162032] Chr9:132912475 [GRCh38]
Chr9:135787862 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-16T>A single nucleotide variant Tuberous sclerosis 1 [RCV002123612] Chr9:132925755 [GRCh38]
Chr9:135801142 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-16C>T single nucleotide variant Tuberous sclerosis 1 [RCV002198392] Chr9:132896770 [GRCh38]
Chr9:135772157 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+16T>G single nucleotide variant Tuberous sclerosis 1 [RCV002218912] Chr9:132904395 [GRCh38]
Chr9:135779782 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.738-12T>G single nucleotide variant Tuberous sclerosis 1 [RCV002177939] Chr9:132912469 [GRCh38]
Chr9:135787856 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.664-18T>C single nucleotide variant Tuberous sclerosis 1 [RCV002217300] Chr9:132921454 [GRCh38]
Chr9:135796841 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1141+16G>A single nucleotide variant Tuberous sclerosis 1 [RCV002123467] Chr9:132910986 [GRCh38]
Chr9:135786373 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-20G>T single nucleotide variant Tuberous sclerosis 1 [RCV002203909] Chr9:132911133 [GRCh38]
Chr9:135786520 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1905A>G (p.Thr635=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409614]|Tuberous sclerosis 1 [RCV002198652] Chr9:132905673 [GRCh38]
Chr9:135781060 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-20G>C single nucleotide variant Tuberous sclerosis 1 [RCV002178089] Chr9:132911588 [GRCh38]
Chr9:135786975 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454467]|Tuberous sclerosis 1 [RCV002141977] Chr9:132896331 [GRCh38]
Chr9:135771718 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1334-14_1334-13del deletion Tuberous sclerosis 1 [RCV002099351] Chr9:132906848..132906849 [GRCh38]
Chr9:135782235..135782236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-15C>T single nucleotide variant Tuberous sclerosis 1 [RCV002139958] Chr9:132923507 [GRCh38]
Chr9:135798894 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2262G>C (p.Leu754=) single nucleotide variant Tuberous sclerosis 1 [RCV002163102] Chr9:132902734 [GRCh38]
Chr9:135778121 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2391+10G>T single nucleotide variant Tuberous sclerosis 1 [RCV002082749] Chr9:132902595 [GRCh38]
Chr9:135777982 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-14C>G single nucleotide variant Tuberous sclerosis 1 [RCV002101374] Chr9:132911582 [GRCh38]
Chr9:135786969 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-19T>C single nucleotide variant Tuberous sclerosis 1 [RCV002176847] Chr9:132925758 [GRCh38]
Chr9:135801145 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_135798715)_(135798899_?)del deletion Tuberous sclerosis 1 [RCV003111103] Chr9:135798715..135798899 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135771184)_(135781738_?)del deletion Tuberous sclerosis 1 [RCV003111104] Chr9:135771184..135781738 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135771622)_(135773017_?)del deletion Tuberous sclerosis 1 [RCV003111105] Chr9:135771622..135773017 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.11:g.(?_135820391)_(135821434_?)del deletion Tuberous sclerosis 1 [RCV003111106] Chr9:135820391..135821434 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135775735)_(135866437_?)dup duplication Tuberous sclerosis 1 [RCV003111107] Chr9:135775735..135866437 [GRCh37]
Chr9:9q34.13		 uncertain significance
NC_000009.11:g.(?_135139626)_(140034216_?)dup duplication Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3		 uncertain significance
NM_000368.5(TSC1):c.1029A>G (p.Gln343=) single nucleotide variant Tuberous sclerosis 1 [RCV003111832] Chr9:132911453 [GRCh38]
Chr9:135786840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1481C>T (p.Ala494Val) single nucleotide variant Tuberous sclerosis 1 [RCV003116423] Chr9:132906097 [GRCh38]
Chr9:135781484 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=) single nucleotide variant Tuberous sclerosis 1 [RCV003118253] Chr9:132896505 [GRCh38]
Chr9:135771892 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.11:g.(?_133884602)_(135942612_?)dup duplication not provided [RCV003116502] Chr9:133884602..135942612 [GRCh37]
Chr9:9q34.12-34.2		 uncertain significance
NC_000009.11:g.(?_131857676)_(135942612_?)dup duplication not provided [RCV003116730] Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_000368.5(TSC1):c.2975+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294635]|Isolated focal cortical dysplasia type II [RCV003459781]|Tuberous sclerosis 1 [RCV003778666]|not provided [RCV003123155] Chr9:132897183 [GRCh38]
Chr9:135772570 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-8_2626-4dup duplication Hereditary cancer-predisposing syndrome [RCV002255901] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.656T>G (p.Val219Gly) single nucleotide variant not provided [RCV003152296] Chr9:132921826 [GRCh38]
Chr9:135797213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3345G>C (p.Glu1115Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255906]|Tuberous sclerosis 1 [RCV003505196] Chr9:132896385 [GRCh38]
Chr9:135771772 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257180] Chr9:132907325 [GRCh38]
Chr9:135782712 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2684T>G (p.Val895Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257187] Chr9:132897552 [GRCh38]
Chr9:135772939 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3452T>A (p.Leu1151Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255907]|Tuberous sclerosis 1 [RCV003774773] Chr9:132896278 [GRCh38]
Chr9:135771665 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2118T>G (p.Arg706=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296856] Chr9:132903741 [GRCh38]
Chr9:135779128 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2092C>A (p.Leu698Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296858] Chr9:132903767 [GRCh38]
Chr9:135779154 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2091A>T (p.Leu697Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296859] Chr9:132903768 [GRCh38]
Chr9:135779155 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1964A>T (p.Gln655Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296862] Chr9:132905614 [GRCh38]
Chr9:135781001 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1407A>C (p.Glu469Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296865] Chr9:132906762 [GRCh38]
Chr9:135782149 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1752T>C (p.Ser584=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296887] Chr9:132905826 [GRCh38]
Chr9:135781213 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296846] Chr9:132927200 [GRCh38]
Chr9:135802587 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296847]|Tuberous sclerosis 1 [RCV003777152] Chr9:132910587 [GRCh38]
Chr9:135785974 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3064A>G (p.Arg1022Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003295989] Chr9:132896666 [GRCh38]
Chr9:135772053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.835C>T (p.His279Tyr) single nucleotide variant not provided [RCV002279153] Chr9:132912360 [GRCh38]
Chr9:135787747 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+668G>T single nucleotide variant Tuberous sclerosis 1 [RCV002274870] Chr9:132924919 [GRCh38]
Chr9:135800306 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.12:g.132944772C>T single nucleotide variant not provided [RCV002263523] Chr9:132944772 [GRCh38]
Chr9:135820159 [GRCh37]
Chr9:9q34.13		 benign|likely benign
NM_000368.5(TSC1):c.844T>G (p.Ser282Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002289006] Chr9:132912351 [GRCh38]
Chr9:135787738 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2559_2560insAA (p.Val854fs) insertion Tuberous sclerosis 1 [RCV002267146] Chr9:132900780..132900781 [GRCh38]
Chr9:135776167..135776168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.621C>T (p.Tyr207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366501]|Tuberous sclerosis 1 [RCV003614128] Chr9:132921861 [GRCh38]
Chr9:135797248 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3394C>A (p.Pro1132Thr) single nucleotide variant not provided [RCV002293210] Chr9:132896336 [GRCh38]
Chr9:135771723 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.373G>A (p.Asp125Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349227] Chr9:132923483 [GRCh38]
Chr9:135798870 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1551G>T (p.Arg517=) single nucleotide variant not provided [RCV002269406] Chr9:132906027 [GRCh38]
Chr9:135781414 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435401]|Tuberous sclerosis 1 [RCV003614191] Chr9:132897305 [GRCh38]
Chr9:135772692 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002283809] Chr9:132905780 [GRCh38]
Chr9:135781167 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2625G>C (p.Lys875Asn) single nucleotide variant not provided [RCV002263522] Chr9:132900715 [GRCh38]
Chr9:135776102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2257dup (p.Ser753fs) duplication Tuberous sclerosis 1 [RCV002289235] Chr9:132902738..132902739 [GRCh38]
Chr9:135778125..135778126 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.708A>G (p.Gly236=) single nucleotide variant Tuberous sclerosis 1 [RCV003505202]|not provided [RCV002273645] Chr9:132921392 [GRCh38]
Chr9:135796779 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002267150] Chr9:132905766 [GRCh38]
Chr9:135781153 [GRCh37]
Chr9:9q34.13		 pathogenic
NC_000009.12:g.132691768_133013020del deletion Tuberous sclerosis 1 [RCV002267192] Chr9:132691768..133013020 [GRCh38]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2838C>A (p.Ser946Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435201] Chr9:132897321 [GRCh38]
Chr9:135772708 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2810C>T (p.Ala937Val) single nucleotide variant Tuberous sclerosis 1 [RCV002290321] Chr9:132897426 [GRCh38]
Chr9:135772813 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.562T>G (p.Phe188Val) single nucleotide variant Tuberous sclerosis 1 [RCV002290358] Chr9:132921920 [GRCh38]
Chr9:135797307 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435331]|Tuberous sclerosis 1 [RCV003614189] Chr9:132897310 [GRCh38]
Chr9:135772697 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.284A>G (p.His95Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435334] Chr9:132925666 [GRCh38]
Chr9:135801053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.79G>A (p.Ala27Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419147] Chr9:132928794 [GRCh38]
Chr9:135804181 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2992G>A (p.Asp998Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435511] Chr9:132896738 [GRCh38]
Chr9:135772125 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2242del (p.Gln748fs) deletion Tuberous sclerosis 1 [RCV002289258] Chr9:132902754 [GRCh38]
Chr9:135778141 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435019]|TSC1-related condition [RCV003984262]|Tuberous sclerosis 1 [RCV003505286] Chr9:132897335 [GRCh38]
Chr9:135772722 [GRCh37]
Chr9:9q34.13		 pathogenic|likely pathogenic
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419260]|Tuberous sclerosis 1 [RCV003505242] Chr9:132910579 [GRCh38]
Chr9:135785966 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452442] Chr9:132923495 [GRCh38]
Chr9:135798882 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.889T>C (p.Tyr297His) single nucleotide variant not provided [RCV002281299] Chr9:132912306 [GRCh38]
Chr9:135787693 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2869G>A (p.Val957Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437646]|Tuberous sclerosis 1 [RCV003102804] Chr9:132897290 [GRCh38]
Chr9:135772677 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1320T>C (p.Asn440=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385692] Chr9:132907314 [GRCh38]
Chr9:135782701 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453136]|Tuberous sclerosis 1 [RCV003102087] Chr9:132897571 [GRCh38]
Chr9:135772958 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002267151] Chr9:132921897 [GRCh38]
Chr9:135797284 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2042G>A (p.Gly681Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419957] Chr9:132903817 [GRCh38]
Chr9:135779204 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3282G>T (p.Glu1094Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002297650] Chr9:132896448 [GRCh38]
Chr9:135771835 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1962G>A (p.Gln654=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421775] Chr9:132905616 [GRCh38]
Chr9:135781003 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3015A>T (p.Val1005=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435810]|Tuberous sclerosis 1 [RCV003614194] Chr9:132896715 [GRCh38]
Chr9:135772102 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438142] Chr9:132896696 [GRCh38]
Chr9:135772083 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421609]|Tuberous sclerosis 1 [RCV003614164] Chr9:132905623 [GRCh38]
Chr9:135781010 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.114C>T (p.Gly38=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452450]|Tuberous sclerosis 1 [RCV003102413] Chr9:132927297 [GRCh38]
Chr9:135802684 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.807C>T (p.Ala269=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419389]|Tuberous sclerosis 1 [RCV003099835] Chr9:132912388 [GRCh38]
Chr9:135787775 [GRCh37]
Chr9:9q34.13		 likely benign
GRCh37/hg19 9q34.13(chr9:135800974-135801126)x1 copy number loss not provided [RCV002263529] Chr9:135800974..135801126 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2610C>G (p.His870Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437177] Chr9:132900730 [GRCh38]
Chr9:135776117 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1726T>G (p.Leu576Val) single nucleotide variant Tuberous sclerosis 1 [RCV002297793] Chr9:132905852 [GRCh38]
Chr9:135781239 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.677A>G (p.His226Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369345] Chr9:132921423 [GRCh38]
Chr9:135796810 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2666A>T (p.Glu889Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437278] Chr9:132897570 [GRCh38]
Chr9:135772957 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1336G>C (p.Glu446Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387597] Chr9:132906833 [GRCh38]
Chr9:135782220 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2697T>A (p.Thr899=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437372] Chr9:132897539 [GRCh38]
Chr9:135772926 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.674A>C (p.Glu225Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369207] Chr9:132921426 [GRCh38]
Chr9:135796813 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1958T>G (p.Ile653Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421669] Chr9:132905620 [GRCh38]
Chr9:135781007 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2707G>C (p.Asp903His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437422]|Tuberous sclerosis 1 [RCV003102126] Chr9:132897529 [GRCh38]
Chr9:135772916 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2788C>G (p.Leu930Val) single nucleotide variant Tuberous sclerosis 1 [RCV002297680] Chr9:132897448 [GRCh38]
Chr9:135772835 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2717A>C (p.Gln906Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437456] Chr9:132897519 [GRCh38]
Chr9:135772906 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2733A>G (p.Glu911=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437494] Chr9:132897503 [GRCh38]
Chr9:135772890 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2887T>G (p.Leu963Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437863] Chr9:132897272 [GRCh38]
Chr9:135772659 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2037T>C (p.Phe679=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419864]|Tuberous sclerosis 1 [RCV003614167] Chr9:132904415 [GRCh38]
Chr9:135779802 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2861T>C (p.Ile954Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437594] Chr9:132897298 [GRCh38]
Chr9:135772685 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2037T>G (p.Phe679Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419868] Chr9:132904415 [GRCh38]
Chr9:135779802 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664C>A (p.Pro222Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366839] Chr9:132921436 [GRCh38]
Chr9:135796823 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs) duplication Tuberous sclerosis 1 [RCV003153169] Chr9:132903726..132903727 [GRCh38]
Chr9:135779113..135779114 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2096del (p.His699fs) deletion Tuberous sclerosis 1 [RCV002470502] Chr9:132903763 [GRCh38]
Chr9:135779150 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.792G>C (p.Leu264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416784] Chr9:132912403 [GRCh38]
Chr9:135787790 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2025C>A (p.Asp675Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002466300] Chr9:132904427 [GRCh38]
Chr9:135779814 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-14C>G single nucleotide variant Tuberous sclerosis 1 [RCV002837870] Chr9:132921450 [GRCh38]
Chr9:135796837 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2015A>C (p.Lys672Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417394] Chr9:132904437 [GRCh38]
Chr9:135779824 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2019T>G (p.Ser673=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417444] Chr9:132904433 [GRCh38]
Chr9:135779820 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1675del (p.Cys559fs) deletion not provided [RCV003151676] Chr9:132905903 [GRCh38]
Chr9:135781290 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.622A>G (p.Ser208Gly) single nucleotide variant Keratoconus [RCV003128469] Chr9:132921860 [GRCh38]
Chr9:135797247 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.562T>C (p.Phe188Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345083] Chr9:132921920 [GRCh38]
Chr9:135797307 [GRCh37]
Chr9:9q34.13		 uncertain significance
GRCh37/hg19 9q34.13-34.2(chr9:135354006-135950908)x3 copy number gain not provided [RCV002473647] Chr9:135354006..135950908 [GRCh37]
Chr9:9q34.13-34.2		 uncertain significance
NM_000368.5(TSC1):c.2667A>C (p.Glu889Asp) single nucleotide variant Tuberous sclerosis 1 [RCV002991646] Chr9:132897569 [GRCh38]
Chr9:135772956 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.659T>G (p.Val220Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002903095] Chr9:132921823 [GRCh38]
Chr9:135797210 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-4G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346627]|Tuberous sclerosis 1 [RCV003094275] Chr9:132923496 [GRCh38]
Chr9:135798883 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.316A>G (p.Lys106Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002294832] Chr9:132925634 [GRCh38]
Chr9:135801021 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2990A>G (p.Asn997Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442328] Chr9:132896740 [GRCh38]
Chr9:135772127 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2276_2303del (p.Ala759fs) deletion Hereditary cancer-predisposing syndrome [RCV002446004] Chr9:132902693..132902720 [GRCh38]
Chr9:135778080..135778107 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2350C>T (p.His784Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV002303752] Chr9:132902646 [GRCh38]
Chr9:135778033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2127G>A (p.Arg709=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417713]|Tuberous sclerosis 1 [RCV003614169] Chr9:132903732 [GRCh38]
Chr9:135779119 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2127G>C (p.Arg709Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417716] Chr9:132903732 [GRCh38]
Chr9:135779119 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.951G>C (p.Leu317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002374211] Chr9:132911531 [GRCh38]
Chr9:135786918 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3348C>A (p.Ser1116Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002296759] Chr9:132896382 [GRCh38]
Chr9:135771769 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2132A>G (p.Gln711Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417800] Chr9:132903727 [GRCh38]
Chr9:135779114 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.449A>G (p.His150Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002300424] Chr9:132923407 [GRCh38]
Chr9:135798794 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3235G>A (p.Gly1079Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002303940] Chr9:132896495 [GRCh38]
Chr9:135771882 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3154C>T (p.Pro1052Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320851] Chr9:132896576 [GRCh38]
Chr9:135771963 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320876]|Tuberous sclerosis 1 [RCV003099242] Chr9:132896573 [GRCh38]
Chr9:135771960 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.917G>T (p.Cys306Phe) single nucleotide variant Tuberous sclerosis 1 [RCV002300505] Chr9:132911565 [GRCh38]
Chr9:135786952 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449942]|Tuberous sclerosis 1 [RCV003100076] Chr9:132912296 [GRCh38]
Chr9:135787683 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403545]|Tuberous sclerosis 1 [RCV003097044] Chr9:132905938 [GRCh38]
Chr9:135781325 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile) single nucleotide variant Ovarian cancer [RCV003154683]|Tuberous sclerosis 1 [RCV003505302] Chr9:132896753 [GRCh38]
Chr9:135772140 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.325C>A (p.Gln109Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324944] Chr9:132925625 [GRCh38]
Chr9:135801012 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3424C>A (p.Pro1142Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456974] Chr9:132896306 [GRCh38]
Chr9:135771693 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.149T>G (p.Leu50Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389885] Chr9:132927262 [GRCh38]
Chr9:135802649 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394421] Chr9:132906134 [GRCh38]
Chr9:135781521 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.37A>C (p.Met13Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355163]|Tuberous sclerosis 1 [RCV003505217] Chr9:132928836 [GRCh38]
Chr9:135804223 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.790C>G (p.Leu264Val) single nucleotide variant Tuberous sclerosis 1 [RCV002304950] Chr9:132912405 [GRCh38]
Chr9:135787792 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2860A>G (p.Ile954Val) single nucleotide variant Tuberous sclerosis 1 [RCV002305021] Chr9:132897299 [GRCh38]
Chr9:135772686 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3074G>T (p.Ser1025Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319807] Chr9:132896656 [GRCh38]
Chr9:135772043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3258C>T (p.Ser1086=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445647] Chr9:132896472 [GRCh38]
Chr9:135771859 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.486A>T (p.Ser162=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340395] Chr9:132923370 [GRCh38]
Chr9:135798757 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.875T>C (p.Val292Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373590] Chr9:132912320 [GRCh38]
Chr9:135787707 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398691]|Tuberous sclerosis 1 [RCV003774404] Chr9:132905978 [GRCh38]
Chr9:135781365 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1186C>A (p.Pro396Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002299619] Chr9:132910648 [GRCh38]
Chr9:135786035 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2675G>A (p.Arg892Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428842] Chr9:132897561 [GRCh38]
Chr9:135772948 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.306T>C (p.Ser102=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444331] Chr9:132925644 [GRCh38]
Chr9:135801031 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398912]|Tuberous sclerosis 1 [RCV003614158] Chr9:132905867 [GRCh38]
Chr9:135781254 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432769]|Isolated focal cortical dysplasia type II [RCV003475379]|Tuberous sclerosis 1 [RCV003614170] Chr9:132903686 [GRCh38]
Chr9:135779073 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.447G>A (p.Gln149=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328544]|Tuberous sclerosis 1 [RCV003094722] Chr9:132923409 [GRCh38]
Chr9:135798796 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.296T>C (p.Leu99Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442088] Chr9:132925654 [GRCh38]
Chr9:135801041 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.57G>A (p.Leu19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359860] Chr9:132928816 [GRCh38]
Chr9:135804203 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376079]|Isolated focal cortical dysplasia type II [RCV003475361]|Tuberous sclerosis 1 [RCV003103541] Chr9:132912305 [GRCh38]
Chr9:135787692 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2703G>A (p.Arg901=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002429022]|Tuberous sclerosis 1 [RCV003775342] Chr9:132897533 [GRCh38]
Chr9:135772920 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2485A>G (p.Ser829Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430844] Chr9:132901606 [GRCh38]
Chr9:135776993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1602G>A (p.Glu534=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398717] Chr9:132905976 [GRCh38]
Chr9:135781363 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.840A>T (p.Gln280His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445853] Chr9:132912355 [GRCh38]
Chr9:135787742 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3480T>C (p.His1160=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457372]|Tuberous sclerosis 1 [RCV003614106] Chr9:132896250 [GRCh38]
Chr9:135771637 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.220G>C (p.Asp74His) single nucleotide variant Tuberous sclerosis 1 [RCV002301625] Chr9:132925730 [GRCh38]
Chr9:135801117 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1680C>T (p.Gly560=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406027] Chr9:132905898 [GRCh38]
Chr9:135781285 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2928A>C (p.Lys976Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440008] Chr9:132897231 [GRCh38]
Chr9:135772618 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371341]|Tuberous sclerosis 1 [RCV003614139] Chr9:132907360 [GRCh38]
Chr9:135782747 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2930A>C (p.Lys977Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440058] Chr9:132897229 [GRCh38]
Chr9:135772616 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2209-2A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425823] Chr9:132902789 [GRCh38]
Chr9:135778176 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1430A>T (p.Lys477Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392050] Chr9:132906739 [GRCh38]
Chr9:135782126 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3066del (p.Arg1022fs) deletion Hereditary cancer-predisposing syndrome [RCV002444278] Chr9:132896664 [GRCh38]
Chr9:135772051 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.758A>C (p.His253Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394141] Chr9:132912437 [GRCh38]
Chr9:135787824 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1671_1672delinsTT (p.Pro558Ser) indel Tuberous sclerosis 1 [RCV002295924] Chr9:132905906..132905907 [GRCh38]
Chr9:135781293..135781294 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.372T>A (p.Thr124=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353051] Chr9:132923484 [GRCh38]
Chr9:135798871 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002299971]|not provided [RCV003332377] Chr9:132923488 [GRCh38]
Chr9:135798875 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1195_1196delinsTG (p.Pro399Ter) indel Hereditary cancer-predisposing syndrome [RCV002338320] Chr9:132910638..132910639 [GRCh38]
Chr9:135786025..135786026 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1486C>T (p.Pro496Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389586] Chr9:132906092 [GRCh38]
Chr9:135781479 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002299311]|not provided [RCV003223753] Chr9:132928814 [GRCh38]
Chr9:135804201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.759T>C (p.His253=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394207] Chr9:132912436 [GRCh38]
Chr9:135787823 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.24G>A (p.Gly8=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431081] Chr9:132928849 [GRCh38]
Chr9:135804236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364033]|Tuberous sclerosis 1 [RCV003505219] Chr9:132910678 [GRCh38]
Chr9:135786065 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2177C>T (p.Ala726Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432832] Chr9:132903682 [GRCh38]
Chr9:135779069 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1781T>G (p.Val594Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002298144] Chr9:132905797 [GRCh38]
Chr9:135781184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2374C>T (p.Gln792Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457807] Chr9:132902622 [GRCh38]
Chr9:135778009 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.401del (p.Leu134fs) deletion Hereditary cancer-predisposing syndrome [RCV002359474] Chr9:132923455 [GRCh38]
Chr9:135798842 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383276]|Tuberous sclerosis 1 [RCV003614143] Chr9:132911458 [GRCh38]
Chr9:135786845 [GRCh37]
Chr9:9q34.13		 benign|uncertain significance
NM_000368.5(TSC1):c.893C>G (p.Ala298Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376173] Chr9:132912302 [GRCh38]
Chr9:135787689 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2715C>T (p.Ser905=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431217] Chr9:132897521 [GRCh38]
Chr9:135772908 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.517G>A (p.Ala173Thr) single nucleotide variant not provided [RCV002305969] Chr9:132921965 [GRCh38]
Chr9:135797352 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426469]|Tuberous sclerosis 1 [RCV003102046] Chr9:132925688 [GRCh38]
Chr9:135801075 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3349C>G (p.Leu1117Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320954] Chr9:132896381 [GRCh38]
Chr9:135771768 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2438A>T (p.Glu813Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459960] Chr9:132901653 [GRCh38]
Chr9:135777040 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2646C>A (p.Ala882=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428655]|Tuberous sclerosis 1 [RCV003102064] Chr9:132897590 [GRCh38]
Chr9:135772977 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2648C>T (p.Ala883Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428669] Chr9:132897588 [GRCh38]
Chr9:135772975 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3228C>G (p.Thr1076=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324707] Chr9:132896502 [GRCh38]
Chr9:135771889 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3090T>A (p.Ser1030Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002296827] Chr9:132896640 [GRCh38]
Chr9:135772027 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439956]|Tuberous sclerosis 1 [RCV003102880] Chr9:132897239 [GRCh38]
Chr9:135772626 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.921T>G (p.Ala307=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371297]|Tuberous sclerosis 1 [RCV003100120] Chr9:132911561 [GRCh38]
Chr9:135786948 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1789G>A (p.Gly597Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002294994] Chr9:132905789 [GRCh38]
Chr9:135781176 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1588A>G (p.Ser530Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398358] Chr9:132905990 [GRCh38]
Chr9:135781377 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3326T>C (p.Met1109Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326432] Chr9:132896404 [GRCh38]
Chr9:135771791 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2546_2552del (p.Asn849fs) deletion Hereditary cancer-predisposing syndrome [RCV002433264] Chr9:132900788..132900794 [GRCh38]
Chr9:135776175..135776181 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1700C>A (p.Ala567Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406308] Chr9:132905878 [GRCh38]
Chr9:135781265 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1894A>G (p.Lys632Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408073] Chr9:132905684 [GRCh38]
Chr9:135781071 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664C>G (p.Pro222Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002301794] Chr9:132921436 [GRCh38]
Chr9:135796823 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401520]|Tuberous sclerosis 1 [RCV003097208] Chr9:132905831 [GRCh38]
Chr9:135781218 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322795]|Tuberous sclerosis 1 [RCV003614098] Chr9:132896544 [GRCh38]
Chr9:135771931 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364285]|Tuberous sclerosis 1 [RCV003505239] Chr9:132910609 [GRCh38]
Chr9:135785996 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3330C>T (p.Thr1110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326489] Chr9:132896400 [GRCh38]
Chr9:135771787 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3153C>T (p.Pro1051=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320844] Chr9:132896577 [GRCh38]
Chr9:135771964 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1338G>C (p.Glu446Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387638] Chr9:132906831 [GRCh38]
Chr9:135782218 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.599T>C (p.Val200Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357930] Chr9:132921883 [GRCh38]
Chr9:135797270 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378746] Chr9:132912280 [GRCh38]
Chr9:135787667 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1903A>G (p.Thr635Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408296] Chr9:132905675 [GRCh38]
Chr9:135781062 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.541C>A (p.His181Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002297918] Chr9:132921941 [GRCh38]
Chr9:135797328 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2074C>A (p.Arg692=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002422187] Chr9:132903785 [GRCh38]
Chr9:135779172 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2509A>G (p.Asn837Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455653] Chr9:132900831 [GRCh38]
Chr9:135776218 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443960]|Tuberous sclerosis 1 [RCV003614195] Chr9:132896691 [GRCh38]
Chr9:135772078 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.10C>A (p.Gln4Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430810] Chr9:132928863 [GRCh38]
Chr9:135804250 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2429T>G (p.Leu810Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002295118] Chr9:132901662 [GRCh38]
Chr9:135777049 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1893A>G (p.Ala631=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408055] Chr9:132905685 [GRCh38]
Chr9:135781072 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319850]|Tuberous sclerosis 1 [RCV003505205] Chr9:132896651 [GRCh38]
Chr9:135772038 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3288T>C (p.Phe1096=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325088] Chr9:132896442 [GRCh38]
Chr9:135771829 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1603C>G (p.Pro535Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398736] Chr9:132905975 [GRCh38]
Chr9:135781362 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1188T>C (p.Pro396=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340732] Chr9:132910646 [GRCh38]
Chr9:135786033 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375621]|Tuberous sclerosis 1 [RCV002295137] Chr9:132896642 [GRCh38]
Chr9:135772029 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.391A>C (p.Thr131Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321104] Chr9:132923465 [GRCh38]
Chr9:135798852 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1645A>G (p.Lys549Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403607] Chr9:132905933 [GRCh38]
Chr9:135781320 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2993A>T (p.Asp998Val) single nucleotide variant Tuberous sclerosis 1 [RCV002296678] Chr9:132896737 [GRCh38]
Chr9:135772124 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2277T>C (p.Ala759=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446027]|Tuberous sclerosis 1 [RCV003101190] Chr9:132902719 [GRCh38]
Chr9:135778106 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2773G>A (p.Glu925Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439638] Chr9:132897463 [GRCh38]
Chr9:135772850 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1806C>T (p.Pro602=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410072]|Tuberous sclerosis 1 [RCV003774510] Chr9:132905772 [GRCh38]
Chr9:135781159 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1812T>C (p.Tyr604=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410209]|Tuberous sclerosis 1 [RCV003097268] Chr9:132905766 [GRCh38]
Chr9:135781153 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1967G>A (p.Gly656Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423414] Chr9:132905611 [GRCh38]
Chr9:135780998 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456982]|Tuberous sclerosis 1 [RCV003505213] Chr9:132910999 [GRCh38]
Chr9:135786386 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.2925G>A (p.Leu975=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439994]|Tuberous sclerosis 1 [RCV003102885] Chr9:132897234 [GRCh38]
Chr9:135772621 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1467del (p.Thr490fs) deletion Hereditary cancer-predisposing syndrome [RCV002396853] Chr9:132906111 [GRCh38]
Chr9:135781498 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.457G>T (p.Asp153Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342201] Chr9:132923399 [GRCh38]
Chr9:135798786 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375824]|Tuberous sclerosis 1 [RCV003776284] Chr9:132928772 [GRCh38]
Chr9:135804159 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.885C>T (p.Ser295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375942]|Tuberous sclerosis 1 [RCV003614136] Chr9:132912310 [GRCh38]
Chr9:135787697 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.252C>T (p.Ala84=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433126] Chr9:132925698 [GRCh38]
Chr9:135801085 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2196T>G (p.His732Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002298362] Chr9:132903663 [GRCh38]
Chr9:135779050 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457139] Chr9:132896287 [GRCh38]
Chr9:135771674 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.822C>G (p.Gly274=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428005] Chr9:132912373 [GRCh38]
Chr9:135787760 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2229A>T (p.Gln743His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428176] Chr9:132902767 [GRCh38]
Chr9:135778154 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.818A>T (p.Asp273Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427837]|Tuberous sclerosis 1 [RCV003103481] Chr9:132912377 [GRCh38]
Chr9:135787764 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.81T>A (p.Ala27=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427927] Chr9:132928792 [GRCh38]
Chr9:135804179 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.8A>G (p.Gln3Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376338] Chr9:132928865 [GRCh38]
Chr9:135804252 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3485A>G (p.Glu1162Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457391] Chr9:132896245 [GRCh38]
Chr9:135771632 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503C>G (p.Leu835Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431123] Chr9:132900837 [GRCh38]
Chr9:135776224 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.860A>G (p.His287Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448011] Chr9:132912335 [GRCh38]
Chr9:135787722 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.518C>A (p.Ala173Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338492] Chr9:132921964 [GRCh38]
Chr9:135797351 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614096]|not provided [RCV002308899] Chr9:132910581 [GRCh38]
Chr9:135785968 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1829T>A (p.Val610Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410498] Chr9:132905749 [GRCh38]
Chr9:135781136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.512A>C (p.His171Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344212] Chr9:132921970 [GRCh38]
Chr9:135797357 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.318G>A (p.Lys106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322844]|Tuberous sclerosis 1 [RCV003614099] Chr9:132925632 [GRCh38]
Chr9:135801019 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2725A>G (p.Ile909Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431323] Chr9:132897511 [GRCh38]
Chr9:135772898 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1261_1263dup (p.Lys421_Glu422insLys) duplication Hereditary cancer-predisposing syndrome [RCV002434838] Chr9:132910570..132910571 [GRCh38]
Chr9:135785957..135785958 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1614C>A (p.Ser538=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400947] Chr9:132905964 [GRCh38]
Chr9:135781351 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1570T>G (p.Ser524Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002302869] Chr9:132906008 [GRCh38]
Chr9:135781395 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.901C>G (p.Gln301Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376416] Chr9:132912294 [GRCh38]
Chr9:135787681 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3087T>C (p.Ser1029=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325750] Chr9:132896643 [GRCh38]
Chr9:135772030 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2713T>A (p.Ser905Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431212] Chr9:132897523 [GRCh38]
Chr9:135772910 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.523G>A (p.Val175Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344334] Chr9:132921959 [GRCh38]
Chr9:135797346 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2355C>T (p.Asp785=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448461] Chr9:132902641 [GRCh38]
Chr9:135778028 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.454C>T (p.Leu152Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340153] Chr9:132923402 [GRCh38]
Chr9:135798789 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.27G>A (p.Glu9=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441558] Chr9:132928846 [GRCh38]
Chr9:135804233 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.27G>C (p.Glu9Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441570] Chr9:132928846 [GRCh38]
Chr9:135804233 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.567T>A (p.His189Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347423] Chr9:132921915 [GRCh38]
Chr9:135797302 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1209G>C (p.Ser403=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359708]|Tuberous sclerosis 1 [RCV003096870] Chr9:132910625 [GRCh38]
Chr9:135786012 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.52A>G (p.Met18Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344573]|Tuberous sclerosis 1 [RCV003102720] Chr9:132928821 [GRCh38]
Chr9:135804208 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445492]|Tuberous sclerosis 1 [RCV003614101] Chr9:132896508 [GRCh38]
Chr9:135771895 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2813+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441721] Chr9:132897422 [GRCh38]
Chr9:135772809 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2356C>G (p.Arg786Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448475] Chr9:132902640 [GRCh38]
Chr9:135778027 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1879C>G (p.Leu627Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415255]|Tuberous sclerosis 1 [RCV003100910] Chr9:132905699 [GRCh38]
Chr9:135781086 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3329C>A (p.Thr1110Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326455] Chr9:132896401 [GRCh38]
Chr9:135771788 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2956G>A (p.Ala986Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441920] Chr9:132897203 [GRCh38]
Chr9:135772590 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1587C>T (p.Ala529=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398342] Chr9:132905991 [GRCh38]
Chr9:135781378 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1920G>A (p.Val640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410706]|Tuberous sclerosis 1 [RCV003614162] Chr9:132905658 [GRCh38]
Chr9:135781045 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1858G>A (p.Val620Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414865] Chr9:132905720 [GRCh38]
Chr9:135781107 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2155C>T (p.Leu719Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432524] Chr9:132903704 [GRCh38]
Chr9:135779091 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2697T>G (p.Thr899=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428971] Chr9:132897539 [GRCh38]
Chr9:135772926 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2673C>A (p.Asn891Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428820] Chr9:132897563 [GRCh38]
Chr9:135772950 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2448G>T (p.Lys816Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450483] Chr9:132901643 [GRCh38]
Chr9:135777030 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1686T>C (p.Ala562=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414585]|Tuberous sclerosis 1 [RCV003614155] Chr9:132905892 [GRCh38]
Chr9:135781279 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.648T>G (p.Phe216Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356248] Chr9:132921834 [GRCh38]
Chr9:135797221 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2973A>G (p.Glu991=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442119]|Tuberous sclerosis 1 [RCV003505287] Chr9:132897186 [GRCh38]
Chr9:135772573 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2021T>C (p.Val674Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002301226] Chr9:132904431 [GRCh38]
Chr9:135779818 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1927A>T (p.Thr643Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410819] Chr9:132905651 [GRCh38]
Chr9:135781038 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415051]|Tuberous sclerosis 1 [RCV003100897] Chr9:132911078 [GRCh38]
Chr9:135786465 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.483G>A (p.Leu161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338131]|Tuberous sclerosis 1 [RCV003102642] Chr9:132923373 [GRCh38]
Chr9:135798760 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1428T>C (p.Asp476=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391991] Chr9:132906741 [GRCh38]
Chr9:135782128 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.729C>T (p.Asp243=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382721] Chr9:132921371 [GRCh38]
Chr9:135796758 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352052]|Tuberous sclerosis 1 [RCV003614126] Chr9:132921926 [GRCh38]
Chr9:135797313 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1432G>C (p.Glu478Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002392098] Chr9:132906737 [GRCh38]
Chr9:135782124 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1469C>A (p.Thr490Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002302289] Chr9:132906109 [GRCh38]
Chr9:135781496 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3152C>G (p.Pro1051Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320839] Chr9:132896578 [GRCh38]
Chr9:135771965 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1735A>T (p.Ser579Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399235] Chr9:132905843 [GRCh38]
Chr9:135781230 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.829G>A (p.Val277Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430309] Chr9:132912366 [GRCh38]
Chr9:135787753 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455621]|Tuberous sclerosis 1 [RCV003614178] Chr9:132901588 [GRCh38]
Chr9:135776975 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.1538C>T (p.Pro513Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403077] Chr9:132906040 [GRCh38]
Chr9:135781427 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1944G>T (p.Val648=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413231] Chr9:132905634 [GRCh38]
Chr9:135781021 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1947G>A (p.Leu649=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413278]|Tuberous sclerosis 1 [RCV003097374] Chr9:132905631 [GRCh38]
Chr9:135781018 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413286] Chr9:132905630 [GRCh38]
Chr9:135781017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.263_277delinsTA (p.Ser88fs) indel Hereditary cancer-predisposing syndrome [RCV002426470] Chr9:132925673..132925687 [GRCh38]
Chr9:135801060..135801074 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2140C>G (p.Leu714Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430544] Chr9:132903719 [GRCh38]
Chr9:135779106 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1816del (p.His606fs) deletion Hereditary cancer-predisposing syndrome [RCV002410267] Chr9:132905762 [GRCh38]
Chr9:135781149 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2080_2095del (p.Gln694fs) deletion Hereditary cancer-predisposing syndrome [RCV002422303] Chr9:132903764..132903779 [GRCh38]
Chr9:135779151..135779166 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1641A>T (p.Thr547=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403554] Chr9:132905937 [GRCh38]
Chr9:135781324 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2142C>T (p.Leu714=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430566] Chr9:132903717 [GRCh38]
Chr9:135779104 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2624_2625+3dup duplication Hereditary cancer-predisposing syndrome [RCV002426422] Chr9:132900711..132900712 [GRCh38]
Chr9:135776098..135776099 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443331]|Tuberous sclerosis 1 [RCV003614100] Chr9:132896534 [GRCh38]
Chr9:135771921 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2514T>A (p.Ser838Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432974] Chr9:132900826 [GRCh38]
Chr9:135776213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.903G>T (p.Gln301His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378473] Chr9:132912292 [GRCh38]
Chr9:135787679 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.151G>C (p.Glu51Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002816247] Chr9:132927260 [GRCh38]
Chr9:135802647 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1951del (p.Arg651fs) deletion Tuberous sclerosis 1 [RCV003014712] Chr9:132905627 [GRCh38]
Chr9:135781014 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1772dup (p.Thr592fs) duplication Tuberous sclerosis 1 [RCV002880415] Chr9:132905805..132905806 [GRCh38]
Chr9:135781192..135781193 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.436T>C (p.Ser146Pro) single nucleotide variant Tuberous sclerosis 1 [RCV002681328] Chr9:132923420 [GRCh38]
Chr9:135798807 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2262G>A (p.Leu754=) single nucleotide variant Tuberous sclerosis 1 [RCV002815871] Chr9:132902734 [GRCh38]
Chr9:135778121 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2268dup (p.Glu757fs) duplication not provided [RCV002512390] Chr9:132902727..132902728 [GRCh38]
Chr9:135778114..135778115 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2503-7del deletion Tuberous sclerosis 1 [RCV002861511] Chr9:132900844 [GRCh38]
Chr9:135776231 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1824T>G (p.Phe608Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002816514] Chr9:132905754 [GRCh38]
Chr9:135781141 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.914-15_914-13del microsatellite Tuberous sclerosis 1 [RCV002904264] Chr9:132911581..132911583 [GRCh38]
Chr9:135786968..135786970 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1279T>G (p.Ser427Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002972366] Chr9:132907355 [GRCh38]
Chr9:135782742 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2732A>C (p.Glu911Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002861664] Chr9:132897504 [GRCh38]
Chr9:135772891 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+9G>A single nucleotide variant Tuberous sclerosis 1 [RCV002775093] Chr9:132910993 [GRCh38]
Chr9:135786380 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1920G>C (p.Val640=) single nucleotide variant Tuberous sclerosis 1 [RCV002751214] Chr9:132905658 [GRCh38]
Chr9:135781045 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1995C>A (p.Asn665Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002815577] Chr9:132905583 [GRCh38]
Chr9:135780970 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3195G>T (p.Thr1065=) single nucleotide variant Tuberous sclerosis 1 [RCV002972209] Chr9:132896535 [GRCh38]
Chr9:135771922 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1634C>T (p.Pro545Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003073595] Chr9:132905944 [GRCh38]
Chr9:135781331 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.140_146del (p.Asp47fs) deletion Tuberous sclerosis 1 [RCV002839375] Chr9:132927265..132927271 [GRCh38]
Chr9:135802652..135802658 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3458T>C (p.Ile1153Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002815914] Chr9:132896272 [GRCh38]
Chr9:135771659 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.888T>C (p.Pro296=) single nucleotide variant Tuberous sclerosis 1 [RCV002995509] Chr9:132912307 [GRCh38]
Chr9:135787694 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2695A>T (p.Thr899Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002613936] Chr9:132897541 [GRCh38]
Chr9:135772928 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.228_235del (p.Asn77fs) deletion Tuberous sclerosis 1 [RCV002839512] Chr9:132925715..132925722 [GRCh38]
Chr9:135801102..135801109 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2337C>G (p.Ile779Met) single nucleotide variant Tuberous sclerosis 1 [RCV002843609] Chr9:132902659 [GRCh38]
Chr9:135778046 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.962A>C (p.Asn321Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002839156] Chr9:132911520 [GRCh38]
Chr9:135786907 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=) single nucleotide variant Tuberous sclerosis 1 [RCV002755787] Chr9:132896538 [GRCh38]
Chr9:135771925 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1775C>A (p.Thr592Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002908579] Chr9:132905803 [GRCh38]
Chr9:135781190 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2814-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV002866025] Chr9:132897346 [GRCh38]
Chr9:135772733 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2851C>T (p.Gln951Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002996673] Chr9:132897308 [GRCh38]
Chr9:135772695 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.73_85dup (p.Phe29fs) duplication not provided [RCV002481163] Chr9:132928787..132928788 [GRCh38]
Chr9:135804174..135804175 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2072T>G (p.Leu691Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002842435] Chr9:132903787 [GRCh38]
Chr9:135779174 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.360_361insGGCAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATGTCTC (p.Lys121fs) microsatellite Tuberous sclerosis 1 [RCV002866043] Chr9:132925589..132925590 [GRCh38]
Chr9:135800976..135800977 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1309dup (p.His437fs) duplication Tuberous sclerosis 1 [RCV002510744] Chr9:132907324..132907325 [GRCh38]
Chr9:135782711..135782712 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2397G>A (p.Lys799=) single nucleotide variant Tuberous sclerosis 1 [RCV002636061] Chr9:132901694 [GRCh38]
Chr9:135777081 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-15C>G single nucleotide variant Tuberous sclerosis 1 [RCV002908605] Chr9:132901714 [GRCh38]
Chr9:135777101 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1662C>T (p.Pro554=) single nucleotide variant Tuberous sclerosis 1 [RCV002842544] Chr9:132905916 [GRCh38]
Chr9:135781303 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1524C>G (p.Tyr508Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002947912] Chr9:132906054 [GRCh38]
Chr9:135781441 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1383G>A (p.Gly461=) single nucleotide variant Tuberous sclerosis 1 [RCV003033665] Chr9:132906786 [GRCh38]
Chr9:135782173 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3084C>T (p.Gly1028=) single nucleotide variant Tuberous sclerosis 1 [RCV002863838] Chr9:132896646 [GRCh38]
Chr9:135772033 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+16T>G single nucleotide variant Tuberous sclerosis 1 [RCV002843078] Chr9:132897168 [GRCh38]
Chr9:135772555 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.986C>T (p.Thr329Ile) single nucleotide variant Tuberous sclerosis 1 [RCV002815275] Chr9:132911496 [GRCh38]
Chr9:135786883 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.839A>G (p.Gln280Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002681412] Chr9:132912356 [GRCh38]
Chr9:135787743 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1792_1804dup (p.Pro602fs) duplication Tuberous sclerosis 1 [RCV002838879] Chr9:132905773..132905774 [GRCh38]
Chr9:135781160..135781161 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.435G>A (p.Gln145=) single nucleotide variant Tuberous sclerosis 1 [RCV002681515] Chr9:132923421 [GRCh38]
Chr9:135798808 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2999G>T (p.Cys1000Phe) single nucleotide variant Tuberous sclerosis 1 [RCV002995732] Chr9:132896731 [GRCh38]
Chr9:135772118 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2881G>C (p.Glu961Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002994317] Chr9:132897278 [GRCh38]
Chr9:135772665 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2484C>T (p.Leu828=) single nucleotide variant Tuberous sclerosis 1 [RCV003095419] Chr9:132901607 [GRCh38]
Chr9:135776994 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.147_157del (p.Tyr49_Ser53delinsTer) deletion Tuberous sclerosis 1 [RCV003014116] Chr9:132927254..132927264 [GRCh38]
Chr9:135802641..135802651 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.106+12A>T single nucleotide variant Tuberous sclerosis 1 [RCV002971137] Chr9:132928755 [GRCh38]
Chr9:135804142 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-8T>C single nucleotide variant Tuberous sclerosis 1 [RCV003014219] Chr9:132900845 [GRCh38]
Chr9:135776232 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.564del (p.His189fs) deletion Tuberous sclerosis 1 [RCV002838490] Chr9:132921918 [GRCh38]
Chr9:135797305 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.363+18del deletion Tuberous sclerosis 1 [RCV003032934] Chr9:132925569 [GRCh38]
Chr9:135800956 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.393A>C (p.Thr131=) single nucleotide variant Tuberous sclerosis 1 [RCV002880755] Chr9:132923463 [GRCh38]
Chr9:135798850 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.694G>C (p.Glu232Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002838850] Chr9:132921406 [GRCh38]
Chr9:135796793 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.126A>G (p.Val42=) single nucleotide variant Tuberous sclerosis 1 [RCV002750590] Chr9:132927285 [GRCh38]
Chr9:135802672 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2744dup (p.His915fs) duplication Tuberous sclerosis 1 [RCV003014239] Chr9:132897491..132897492 [GRCh38]
Chr9:135772878..135772879 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2100C>T (p.Asn700=) single nucleotide variant Tuberous sclerosis 1 [RCV002972383] Chr9:132903759 [GRCh38]
Chr9:135779146 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3099A>T (p.Arg1033Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003013776] Chr9:132896631 [GRCh38]
Chr9:135772018 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2140del (p.Leu714fs) deletion Tuberous sclerosis 1 [RCV002863096] Chr9:132903719 [GRCh38]
Chr9:135779106 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1102G>A (p.Asp368Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002842284] Chr9:132911041 [GRCh38]
Chr9:135786428 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-15A>C single nucleotide variant Tuberous sclerosis 1 [RCV002996090] Chr9:132900852 [GRCh38]
Chr9:135776239 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.15A>G (p.Ala5=) single nucleotide variant Tuberous sclerosis 1 [RCV003016381] Chr9:132928858 [GRCh38]
Chr9:135804245 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2446_2447delinsGC (p.Lys816Ala) indel Tuberous sclerosis 1 [RCV003013525] Chr9:132901644..132901645 [GRCh38]
Chr9:135777031..135777032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+12A>G single nucleotide variant Tuberous sclerosis 1 [RCV002947216] Chr9:132928755 [GRCh38]
Chr9:135804142 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1308C>A (p.His436Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002837981] Chr9:132907326 [GRCh38]
Chr9:135782713 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2816G>A (p.Gly939Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003012532] Chr9:132897343 [GRCh38]
Chr9:135772730 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2402A>G (p.Glu801Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002882146] Chr9:132901689 [GRCh38]
Chr9:135777076 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.450T>C (p.His150=) single nucleotide variant Tuberous sclerosis 1 [RCV003011629] Chr9:132923406 [GRCh38]
Chr9:135798793 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-12T>C single nucleotide variant Tuberous sclerosis 1 [RCV002818980] Chr9:132923504 [GRCh38]
Chr9:135798891 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1439-11C>T single nucleotide variant Tuberous sclerosis 1 [RCV002903112] Chr9:132906150 [GRCh38]
Chr9:135781537 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2075G>T (p.Arg692Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002815231] Chr9:132903784 [GRCh38]
Chr9:135779171 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2271del (p.Glu757fs) deletion Autosomal dominant epilepsy [RCV003156201] Chr9:132902725 [GRCh38]
Chr9:135778112 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.508+5A>G single nucleotide variant Tuberous sclerosis 1 [RCV003033044] Chr9:132923343 [GRCh38]
Chr9:135798730 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1654_1655delinsCCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTACAAAGTC (p.Phe552fs) indel Tuberous sclerosis 1 [RCV002881137] Chr9:132905923..132905924 [GRCh38]
Chr9:135781310..135781311 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.895G>A (p.Asp299Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002974804] Chr9:132912300 [GRCh38]
Chr9:135787687 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.211-19dup duplication Tuberous sclerosis 1 [RCV002905010] Chr9:132925757..132925758 [GRCh38]
Chr9:135801144..135801145 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1179C>G (p.Thr393=) single nucleotide variant Tuberous sclerosis 1 [RCV002863578] Chr9:132910655 [GRCh38]
Chr9:135786042 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003475469]|Tuberous sclerosis 1 [RCV003012086] Chr9:132903782 [GRCh38]
Chr9:135779169 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2976-17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002880501] Chr9:132896771 [GRCh38]
Chr9:135772158 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2967A>G (p.Ala989=) single nucleotide variant Tuberous sclerosis 1 [RCV002842959] Chr9:132897192 [GRCh38]
Chr9:135772579 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.363+7T>A single nucleotide variant Tuberous sclerosis 1 [RCV002968107] Chr9:132925580 [GRCh38]
Chr9:135800967 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.354del (p.Lys118fs) deletion Tuberous sclerosis 1 [RCV002889533] Chr9:132925596 [GRCh38]
Chr9:135800983 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.286G>A (p.Val96Ile) single nucleotide variant Tuberous sclerosis 1 [RCV002620967] Chr9:132925664 [GRCh38]
Chr9:135801051 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2364A>T (p.Glu788Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003039507] Chr9:132902632 [GRCh38]
Chr9:135778019 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-20G>C single nucleotide variant Tuberous sclerosis 1 [RCV002871307] Chr9:132906159 [GRCh38]
Chr9:135781546 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1909G>A (p.Glu637Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002761690] Chr9:132905669 [GRCh38]
Chr9:135781056 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.1381G>A (p.Gly461Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003021983] Chr9:132906788 [GRCh38]
Chr9:135782175 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3173del (p.Pro1058fs) deletion Tuberous sclerosis 1 [RCV002928127] Chr9:132896557 [GRCh38]
Chr9:135771944 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2662C>T (p.Leu888=) single nucleotide variant Tuberous sclerosis 1 [RCV002889630] Chr9:132897574 [GRCh38]
Chr9:135772961 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2238C>T (p.Asp746=) single nucleotide variant Tuberous sclerosis 1 [RCV002824572] Chr9:132902758 [GRCh38]
Chr9:135778145 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1017T>C (p.Thr339=) single nucleotide variant Tuberous sclerosis 1 [RCV003081254] Chr9:132911465 [GRCh38]
Chr9:135786852 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1961_1974del (p.Gln654fs) deletion Tuberous sclerosis 1 [RCV002914434] Chr9:132905604..132905617 [GRCh38]
Chr9:135780991..135781004 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.92del (p.Glu31fs) deletion Tuberous sclerosis 1 [RCV003055327] Chr9:132928781 [GRCh38]
Chr9:135804168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3411C>A (p.Gly1137=) single nucleotide variant Tuberous sclerosis 1 [RCV002927681] Chr9:132896319 [GRCh38]
Chr9:135771706 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2140dup (p.Leu714fs) duplication Tuberous sclerosis 1 [RCV002871274] Chr9:132903718..132903719 [GRCh38]
Chr9:135779105..135779106 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1709G>C (p.Arg570Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002825183] Chr9:132905869 [GRCh38]
Chr9:135781256 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1442C>A (p.Ala481Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002796289] Chr9:132906136 [GRCh38]
Chr9:135781523 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.980C>T (p.Pro327Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002796323] Chr9:132911502 [GRCh38]
Chr9:135786889 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.561_562del (p.Phe188fs) microsatellite Tuberous sclerosis 1 [RCV002796378] Chr9:132921920..132921921 [GRCh38]
Chr9:135797307..135797308 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1260G>A (p.Arg420=) single nucleotide variant Tuberous sclerosis 1 [RCV003019510] Chr9:132910574 [GRCh38]
Chr9:135785961 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1334-19T>G single nucleotide variant Tuberous sclerosis 1 [RCV003035976] Chr9:132906854 [GRCh38]
Chr9:135782241 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.175C>T (p.His59Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170755]|Tuberous sclerosis 1 [RCV002949639] Chr9:132927236 [GRCh38]
Chr9:135802623 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3445G>A (p.Gly1149Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002659306] Chr9:132896285 [GRCh38]
Chr9:135771672 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1198C>G (p.Leu400Val) single nucleotide variant Tuberous sclerosis 1 [RCV002820176] Chr9:132910636 [GRCh38]
Chr9:135786023 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2899G>T (p.Gly967Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003079716] Chr9:132897260 [GRCh38]
Chr9:135772647 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.809C>G (p.Ser270Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002867803] Chr9:132912386 [GRCh38]
Chr9:135787773 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.392C>T (p.Thr131Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003036142] Chr9:132923464 [GRCh38]
Chr9:135798851 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2976-13G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003349049]|Tuberous sclerosis 1 [RCV002619808] Chr9:132896767 [GRCh38]
Chr9:135772154 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2972A>G (p.Glu991Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002824313] Chr9:132897187 [GRCh38]
Chr9:135772574 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3283_3284delinsAG (p.Leu1095Arg) indel Tuberous sclerosis 1 [RCV002886257] Chr9:132896446..132896447 [GRCh38]
Chr9:135771833..135771834 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2357G>T (p.Arg786Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002761479] Chr9:132902639 [GRCh38]
Chr9:135778026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.911A>G (p.Tyr304Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003077806] Chr9:132912284 [GRCh38]
Chr9:135787671 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3394C>G (p.Pro1132Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002913795] Chr9:132896336 [GRCh38]
Chr9:135771723 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2889A>G (p.Leu963=) single nucleotide variant Tuberous sclerosis 1 [RCV002825120] Chr9:132897270 [GRCh38]
Chr9:135772657 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1535_1536dup (p.Pro513fs) microsatellite Tuberous sclerosis 1 [RCV002846604] Chr9:132906041..132906042 [GRCh38]
Chr9:135781428..135781429 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1177A>G (p.Thr393Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002909168] Chr9:132910657 [GRCh38]
Chr9:135786044 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.587C>T (p.Pro196Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003037791] Chr9:132921895 [GRCh38]
Chr9:135797282 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1438+14G>T single nucleotide variant Tuberous sclerosis 1 [RCV003035689] Chr9:132906717 [GRCh38]
Chr9:135782104 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1607_1616del (p.Leu536fs) deletion Tuberous sclerosis 1 [RCV003020266] Chr9:132905962..132905971 [GRCh38]
Chr9:135781349..135781358 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.141T>G (p.Asp47Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002824214] Chr9:132927270 [GRCh38]
Chr9:135802657 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2247G>T (p.Met749Ile) single nucleotide variant Tuberous sclerosis 1 [RCV002695019] Chr9:132902749 [GRCh38]
Chr9:135778136 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-15C>T single nucleotide variant Tuberous sclerosis 1 [RCV003100628] Chr9:132901714 [GRCh38]
Chr9:135777101 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-7T>C single nucleotide variant Tuberous sclerosis 1 [RCV002824055] Chr9:132911120 [GRCh38]
Chr9:135786507 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3335G>A (p.Ser1112Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002952843] Chr9:132896395 [GRCh38]
Chr9:135771782 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1481C>G (p.Ala494Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002591854] Chr9:132906097 [GRCh38]
Chr9:135781484 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2400G>C (p.Leu800=) single nucleotide variant Tuberous sclerosis 1 [RCV002867171] Chr9:132901691 [GRCh38]
Chr9:135777078 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2587T>C (p.Leu863=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375698]|Tuberous sclerosis 1 [RCV002797056] Chr9:132900753 [GRCh38]
Chr9:135776140 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1914T>C (p.Asp638=) single nucleotide variant Tuberous sclerosis 1 [RCV002866615] Chr9:132905664 [GRCh38]
Chr9:135781051 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1482A>G (p.Ala494=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003170924]|Tuberous sclerosis 1 [RCV003053863] Chr9:132906096 [GRCh38]
Chr9:135781483 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2122A>T (p.Lys708Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002870893] Chr9:132903737 [GRCh38]
Chr9:135779124 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=) single nucleotide variant Tuberous sclerosis 1 [RCV002889193] Chr9:132896259 [GRCh38]
Chr9:135771646 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-10T>C single nucleotide variant Tuberous sclerosis 1 [RCV002885058] Chr9:132904464 [GRCh38]
Chr9:135779851 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3199A>C (p.Met1067Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002590785] Chr9:132896531 [GRCh38]
Chr9:135771918 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3372C>T (p.Asp1124=) single nucleotide variant Tuberous sclerosis 1 [RCV002824969] Chr9:132896358 [GRCh38]
Chr9:135771745 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1933C>T (p.Pro645Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002999560] Chr9:132905645 [GRCh38]
Chr9:135781032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1989G>A (p.Glu663=) single nucleotide variant Tuberous sclerosis 1 [RCV002975775] Chr9:132905589 [GRCh38]
Chr9:135780976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+15T>G single nucleotide variant Tuberous sclerosis 1 [RCV002876549] Chr9:132904396 [GRCh38]
Chr9:135779783 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.327A>G (p.Gln109=) single nucleotide variant Tuberous sclerosis 1 [RCV002853400] Chr9:132925623 [GRCh38]
Chr9:135801010 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3467A>G (p.Tyr1156Cys) single nucleotide variant Inborn genetic diseases [RCV002931282] Chr9:132896263 [GRCh38]
Chr9:135771650 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2008C>A (p.Pro670Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003007612] Chr9:132904444 [GRCh38]
Chr9:135779831 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1329A>T (p.Gly443=) single nucleotide variant Tuberous sclerosis 1 [RCV003022913] Chr9:132907305 [GRCh38]
Chr9:135782692 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1333+14G>T single nucleotide variant Tuberous sclerosis 1 [RCV002790435] Chr9:132907287 [GRCh38]
Chr9:135782674 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.528T>C (p.Tyr176=) single nucleotide variant Tuberous sclerosis 1 [RCV002894999] Chr9:132921954 [GRCh38]
Chr9:135797341 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1961A>G (p.Gln654Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003058109] Chr9:132905617 [GRCh38]
Chr9:135781004 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2788C>T (p.Leu930=) single nucleotide variant Tuberous sclerosis 1 [RCV002875769] Chr9:132897448 [GRCh38]
Chr9:135772835 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-14T>C single nucleotide variant Tuberous sclerosis 1 [RCV002668022] Chr9:132911127 [GRCh38]
Chr9:135786514 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1297C>T (p.His433Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003042689] Chr9:132907337 [GRCh38]
Chr9:135782724 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1142-10T>C single nucleotide variant Tuberous sclerosis 1 [RCV003023100] Chr9:132910702 [GRCh38]
Chr9:135786089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2811A>G (p.Ala937=) single nucleotide variant Tuberous sclerosis 1 [RCV003023104] Chr9:132897425 [GRCh38]
Chr9:135772812 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1334-20T>G single nucleotide variant Tuberous sclerosis 1 [RCV002876497] Chr9:132906855 [GRCh38]
Chr9:135782242 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2803C>G (p.Leu935Val) single nucleotide variant Tuberous sclerosis 1 [RCV002595398] Chr9:132897433 [GRCh38]
Chr9:135772820 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1691A>G (p.Glu564Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002666688] Chr9:132905887 [GRCh38]
Chr9:135781274 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002644543] Chr9:132921453 [GRCh38]
Chr9:135796840 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2252A>G (p.Lys751Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002933131] Chr9:132902744 [GRCh38]
Chr9:135778131 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+17C>A single nucleotide variant Tuberous sclerosis 1 [RCV002829774] Chr9:132901572 [GRCh38]
Chr9:135776959 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1439-15C>G single nucleotide variant Tuberous sclerosis 1 [RCV003008083] Chr9:132906154 [GRCh38]
Chr9:135781541 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.269T>C (p.Leu90Pro) single nucleotide variant Tuberous sclerosis 1 [RCV002894820] Chr9:132925681 [GRCh38]
Chr9:135801068 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1804C>T (p.Pro602Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002624385] Chr9:132905774 [GRCh38]
Chr9:135781161 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3423T>A (p.Ser1141=) single nucleotide variant Tuberous sclerosis 1 [RCV002872191] Chr9:132896307 [GRCh38]
Chr9:135771694 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.720T>C (p.His240=) single nucleotide variant Tuberous sclerosis 1 [RCV002594254] Chr9:132921380 [GRCh38]
Chr9:135796767 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.825T>C (p.Tyr275=) single nucleotide variant Tuberous sclerosis 1 [RCV002828610] Chr9:132912370 [GRCh38]
Chr9:135787757 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2078_2082del (p.Asp693fs) deletion Tuberous sclerosis 1 [RCV002852300] Chr9:132903777..132903781 [GRCh38]
Chr9:135779164..135779168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2645C>G (p.Ala882Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003024138] Chr9:132897591 [GRCh38]
Chr9:135772978 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3240A>C (p.Ser1080=) single nucleotide variant Tuberous sclerosis 1 [RCV003041712] Chr9:132896490 [GRCh38]
Chr9:135771877 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.174G>A (p.Leu58=) single nucleotide variant Tuberous sclerosis 1 [RCV003023290] Chr9:132927237 [GRCh38]
Chr9:135802624 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+8A>T single nucleotide variant Tuberous sclerosis 1 [RCV002983120] Chr9:132921355 [GRCh38]
Chr9:135796742 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.495C>G (p.Cys165Trp) single nucleotide variant Tuberous sclerosis 1 [RCV002663691] Chr9:132923361 [GRCh38]
Chr9:135798748 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2192A>C (p.Glu731Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003040879] Chr9:132903667 [GRCh38]
Chr9:135779054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003475417]|Tuberous sclerosis 1 [RCV002711067] Chr9:132906068 [GRCh38]
Chr9:135781455 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2392-16A>T single nucleotide variant Tuberous sclerosis 1 [RCV002829088] Chr9:132901715 [GRCh38]
Chr9:135777102 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.611G>T (p.Arg204Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003056415] Chr9:132921871 [GRCh38]
Chr9:135797258 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1288C>A (p.Pro430Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002830070] Chr9:132907346 [GRCh38]
Chr9:135782733 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-4_2626-3insTTC insertion Tuberous sclerosis 1 [RCV002595476] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358079]|Tuberous sclerosis 1 [RCV003085731] Chr9:132910675 [GRCh38]
Chr9:135786062 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.215T>A (p.Leu72His) single nucleotide variant Tuberous sclerosis 1 [RCV002828498] Chr9:132925735 [GRCh38]
Chr9:135801122 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1985A>C (p.Lys662Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003043171] Chr9:132905593 [GRCh38]
Chr9:135780980 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2265_2266del (p.Lys756fs) deletion Tuberous sclerosis 1 [RCV002871822] Chr9:132902730..132902731 [GRCh38]
Chr9:135778117..135778118 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1270A>T (p.Arg424Ter) single nucleotide variant Tuberous sclerosis 1 [RCV002852090] Chr9:132907364 [GRCh38]
Chr9:135782751 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1998-14A>C single nucleotide variant Tuberous sclerosis 1 [RCV002894427] Chr9:132904468 [GRCh38]
Chr9:135779855 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2824C>G (p.Gln942Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003059580] Chr9:132897335 [GRCh38]
Chr9:135772722 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1674del (p.Cys559fs) deletion Tuberous sclerosis 1 [RCV002801644] Chr9:132905904 [GRCh38]
Chr9:135781291 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1142-11T>C single nucleotide variant Tuberous sclerosis 1 [RCV003083007] Chr9:132910703 [GRCh38]
Chr9:135786090 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2976-11C>G single nucleotide variant Tuberous sclerosis 1 [RCV002853047] Chr9:132896765 [GRCh38]
Chr9:135772152 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+17C>T single nucleotide variant Tuberous sclerosis 1 [RCV002790652] Chr9:132910554 [GRCh38]
Chr9:135785941 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.339del (p.Leu113fs) deletion Tuberous sclerosis 1 [RCV002876075] Chr9:132925611 [GRCh38]
Chr9:135800998 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1876G>C (p.Glu626Gln) single nucleotide variant Tuberous sclerosis 1 [RCV002801786] Chr9:132905702 [GRCh38]
Chr9:135781089 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+12A>T single nucleotide variant Tuberous sclerosis 1 [RCV002871746] Chr9:132904399 [GRCh38]
Chr9:135779786 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.264C>T (p.Ser88=) single nucleotide variant Tuberous sclerosis 1 [RCV002801719] Chr9:132925686 [GRCh38]
Chr9:135801073 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3000C>T (p.Cys1000=) single nucleotide variant Tuberous sclerosis 1 [RCV002894049] Chr9:132896730 [GRCh38]
Chr9:135772117 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2680del (p.His894fs) deletion Tuberous sclerosis 1 [RCV002894424] Chr9:132897556 [GRCh38]
Chr9:135772943 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2391+11C>T single nucleotide variant Tuberous sclerosis 1 [RCV002700897] Chr9:132902594 [GRCh38]
Chr9:135777981 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1546C>G (p.Gln516Glu) single nucleotide variant Tuberous sclerosis 1 [RCV002829393] Chr9:132906032 [GRCh38]
Chr9:135781419 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2000dup (p.Leu667fs) duplication Tuberous sclerosis 1 [RCV002894107] Chr9:132904451..132904452 [GRCh38]
Chr9:135779838..135779839 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003294424]|Tuberous sclerosis 1 [RCV003059062] Chr9:132911010 [GRCh38]
Chr9:135786397 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2848G>A (p.Ala950Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003024847] Chr9:132897311 [GRCh38]
Chr9:135772698 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2814-12T>C single nucleotide variant Tuberous sclerosis 1 [RCV003040555] Chr9:132897357 [GRCh38]
Chr9:135772744 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.722A>G (p.Glu241Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003023560] Chr9:132921378 [GRCh38]
Chr9:135796765 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.319C>T (p.Leu107Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003023575] Chr9:132925631 [GRCh38]
Chr9:135801018 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1052T>C (p.Met351Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003042464] Chr9:132911091 [GRCh38]
Chr9:135786478 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3029A>G (p.Glu1010Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002594415] Chr9:132896701 [GRCh38]
Chr9:135772088 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+11G>A single nucleotide variant Tuberous sclerosis 1 [RCV002918766] Chr9:132900704 [GRCh38]
Chr9:135776091 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-5T>G single nucleotide variant Tuberous sclerosis 1 [RCV003022769] Chr9:132923497 [GRCh38]
Chr9:135798884 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1815T>C (p.Asp605=) single nucleotide variant Tuberous sclerosis 1 [RCV003065864] Chr9:132905763 [GRCh38]
Chr9:135781150 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3130G>C (p.Glu1044Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003047118] Chr9:132896600 [GRCh38]
Chr9:135771987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.625A>C (p.Met209Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003045571] Chr9:132921857 [GRCh38]
Chr9:135797244 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2123dup (p.Arg709fs) duplication Tuberous sclerosis 1 [RCV002937483] Chr9:132903735..132903736 [GRCh38]
Chr9:135779122..135779123 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2823G>A (p.Leu941=) single nucleotide variant Tuberous sclerosis 1 [RCV002632698] Chr9:132897336 [GRCh38]
Chr9:135772723 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1297C>A (p.His433Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003049073] Chr9:132907337 [GRCh38]
Chr9:135782724 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.74T>G (p.Val25Gly) single nucleotide variant Tuberous sclerosis 1 [RCV002806708] Chr9:132928799 [GRCh38]
Chr9:135804186 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del) microsatellite Tuberous sclerosis 1 [RCV002922665] Chr9:132923476..132923478 [GRCh38]
Chr9:135798863..135798865 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.941C>G (p.Thr314Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003045049] Chr9:132911541 [GRCh38]
Chr9:135786928 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.608del (p.Leu203fs) deletion Tuberous sclerosis 1 [RCV003029025] Chr9:132921874 [GRCh38]
Chr9:135797261 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.106+18C>A single nucleotide variant Tuberous sclerosis 1 [RCV003049315] Chr9:132928749 [GRCh38]
Chr9:135804136 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.660_663+2del deletion Tuberous sclerosis 1 [RCV002900313] Chr9:132921817..132921822 [GRCh38]
Chr9:135797204..135797209 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-11A>G single nucleotide variant Tuberous sclerosis 1 [RCV003030150] Chr9:132921447 [GRCh38]
Chr9:135796834 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.914-16T>C single nucleotide variant Tuberous sclerosis 1 [RCV002672167] Chr9:132911584 [GRCh38]
Chr9:135786971 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1914T>A (p.Asp638Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003047503] Chr9:132905664 [GRCh38]
Chr9:135781051 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2239dup (p.Ile747fs) duplication Tuberous sclerosis 1 [RCV002856248] Chr9:132902756..132902757 [GRCh38]
Chr9:135778143..135778144 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.349C>T (p.Leu117=) single nucleotide variant Tuberous sclerosis 1 [RCV003049392] Chr9:132925601 [GRCh38]
Chr9:135800988 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2503-16C>T single nucleotide variant Tuberous sclerosis 1 [RCV002633038] Chr9:132900853 [GRCh38]
Chr9:135776240 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-18C>G single nucleotide variant Tuberous sclerosis 1 [RCV003049074] Chr9:132897363 [GRCh38]
Chr9:135772750 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.290_291del (p.Ile97fs) deletion Tuberous sclerosis 1 [RCV003029456] Chr9:132925659..132925660 [GRCh38]
Chr9:135801046..135801047 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.808T>G (p.Ser270Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002900463] Chr9:132912387 [GRCh38]
Chr9:135787774 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.116C>T (p.Pro39Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002770406] Chr9:132927295 [GRCh38]
Chr9:135802682 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-10T>G single nucleotide variant Tuberous sclerosis 1 [RCV003047961] Chr9:132897620 [GRCh38]
Chr9:135773007 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.551T>C (p.Val184Ala) single nucleotide variant Tuberous sclerosis 1 [RCV002629604] Chr9:132921931 [GRCh38]
Chr9:135797318 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1414A>G (p.Ser472Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003062075] Chr9:132906755 [GRCh38]
Chr9:135782142 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2975+15C>A single nucleotide variant Tuberous sclerosis 1 [RCV002598414] Chr9:132897169 [GRCh38]
Chr9:135772556 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+17del deletion Tuberous sclerosis 1 [RCV002579752] Chr9:132900698 [GRCh38]
Chr9:135776085 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+15T>C single nucleotide variant Tuberous sclerosis 1 [RCV003063441] Chr9:132904396 [GRCh38]
Chr9:135779783 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.107-14T>G single nucleotide variant Tuberous sclerosis 1 [RCV003043839] Chr9:132927318 [GRCh38]
Chr9:135802705 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=) single nucleotide variant Tuberous sclerosis 1 [RCV002770894] Chr9:132896415 [GRCh38]
Chr9:135771802 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-13T>A single nucleotide variant Tuberous sclerosis 1 [RCV002791834] Chr9:132901712 [GRCh38]
Chr9:135777099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2555T>C (p.Leu852Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003028796] Chr9:132900785 [GRCh38]
Chr9:135776172 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1418T>G (p.Ile473Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003029434] Chr9:132906751 [GRCh38]
Chr9:135782138 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1347C>T (p.Gly449=) single nucleotide variant Tuberous sclerosis 1 [RCV003029102] Chr9:132906822 [GRCh38]
Chr9:135782209 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2538G>A (p.Glu846=) single nucleotide variant Tuberous sclerosis 1 [RCV003088179] Chr9:132900802 [GRCh38]
Chr9:135776189 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1238A>C (p.Gln413Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003027888] Chr9:132910596 [GRCh38]
Chr9:135785983 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2649del (p.Tyr884fs) deletion Tuberous sclerosis 1 [RCV002810187] Chr9:132897587 [GRCh38]
Chr9:135772974 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2202T>C (p.Ala734=) single nucleotide variant Tuberous sclerosis 1 [RCV002857439] Chr9:132903657 [GRCh38]
Chr9:135779044 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+10A>G single nucleotide variant Tuberous sclerosis 1 [RCV003045816] Chr9:132897174 [GRCh38]
Chr9:135772561 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1329A>G (p.Gly443=) single nucleotide variant Tuberous sclerosis 1 [RCV003028627] Chr9:132907305 [GRCh38]
Chr9:135782692 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+8C>A single nucleotide variant Tuberous sclerosis 1 [RCV002933742] Chr9:132910563 [GRCh38]
Chr9:135785950 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2958T>C (p.Ala986=) single nucleotide variant Tuberous sclerosis 1 [RCV002714782] Chr9:132897201 [GRCh38]
Chr9:135772588 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.106+17C>A single nucleotide variant Tuberous sclerosis 1 [RCV003087156] Chr9:132928750 [GRCh38]
Chr9:135804137 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.281G>T (p.Gly94Val) single nucleotide variant Tuberous sclerosis 1 [RCV002856100] Chr9:132925669 [GRCh38]
Chr9:135801056 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375696]|Tuberous sclerosis 1 [RCV002806840] Chr9:132905912 [GRCh38]
Chr9:135781299 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1232T>C (p.Leu411Pro) single nucleotide variant Tuberous sclerosis 1 [RCV002834218] Chr9:132910602 [GRCh38]
Chr9:135785989 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.568C>A (p.Arg190Ser) single nucleotide variant Tuberous sclerosis 1 [RCV002834221] Chr9:132921914 [GRCh38]
Chr9:135797301 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3478CAT[1] (p.His1161del) microsatellite Tuberous sclerosis 1 [RCV002899116] Chr9:132896247..132896249 [GRCh38]
Chr9:135771634..135771636 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-1G>C single nucleotide variant Tuberous sclerosis 1 [RCV002857284] Chr9:132901700 [GRCh38]
Chr9:135777087 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.213C>T (p.His71=) single nucleotide variant Tuberous sclerosis 1 [RCV002899276] Chr9:132925737 [GRCh38]
Chr9:135801124 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2349G>A (p.Gln783=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003308234]|Tuberous sclerosis 1 [RCV002720273] Chr9:132902647 [GRCh38]
Chr9:135778034 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1625A>G (p.Lys542Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003086498] Chr9:132905953 [GRCh38]
Chr9:135781340 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-14del deletion Tuberous sclerosis 1 [RCV003046716] Chr9:132923506 [GRCh38]
Chr9:135798893 [GRCh37]
Chr9:9q34.13		 likely benign
NC_000009.12:g.132944862_132944882dup duplication Tuberous sclerosis 1 [RCV003087030] Chr9:132944861..132944862 [GRCh38]
Chr9:135820248..135820249 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV003047193] Chr9:132901588 [GRCh38]
Chr9:135776975 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2583C>A (p.Leu861=) single nucleotide variant Tuberous sclerosis 1 [RCV002811434] Chr9:132900757 [GRCh38]
Chr9:135776144 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-19C>T single nucleotide variant Tuberous sclerosis 1 [RCV002938313] Chr9:132903836 [GRCh38]
Chr9:135779223 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-12C>T single nucleotide variant Tuberous sclerosis 1 [RCV003090031] Chr9:132903829 [GRCh38]
Chr9:135779216 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+13T>C single nucleotide variant Tuberous sclerosis 1 [RCV002834031] Chr9:132923335 [GRCh38]
Chr9:135798722 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1142-16del deletion Tuberous sclerosis 1 [RCV003060133] Chr9:132910708 [GRCh38]
Chr9:135786095 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003375631]|Tuberous sclerosis 1 [RCV002577713] Chr9:132896739 [GRCh38]
Chr9:135772126 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2234A>G (p.Lys745Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002900084] Chr9:132902762 [GRCh38]
Chr9:135778149 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.654A>C (p.Glu218Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003026984] Chr9:132921828 [GRCh38]
Chr9:135797215 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1426G>A (p.Asp476Asn) single nucleotide variant Tuberous sclerosis 1 [RCV002937684] Chr9:132906743 [GRCh38]
Chr9:135782130 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2063_2078del (p.Ile688fs) deletion Tuberous sclerosis 1 [RCV002877190] Chr9:132903781..132903796 [GRCh38]
Chr9:135779168..135779183 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2001G>A (p.Leu667=) single nucleotide variant Tuberous sclerosis 1 [RCV002810066] Chr9:132904451 [GRCh38]
Chr9:135779838 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1257dup (p.Arg420fs) duplication Tuberous sclerosis 1 [RCV002672205] Chr9:132910576..132910577 [GRCh38]
Chr9:135785963..135785964 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003030450] Chr9:132902756 [GRCh38]
Chr9:135778143 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.2639T>C (p.Met880Thr) single nucleotide variant Tuberous sclerosis 1 [RCV002676257] Chr9:132897597 [GRCh38]
Chr9:135772984 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1983C>T (p.Ser661=) single nucleotide variant Tuberous sclerosis 1 [RCV002627770] Chr9:132905595 [GRCh38]
Chr9:135780982 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3060C>A (p.Thr1020=) single nucleotide variant Tuberous sclerosis 1 [RCV002792010] Chr9:132896670 [GRCh38]
Chr9:135772057 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1015dup (p.Thr339fs) duplication Tuberous sclerosis 1 [RCV003062239] Chr9:132911466..132911467 [GRCh38]
Chr9:135786853..135786854 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2314G>T (p.Val772Leu) single nucleotide variant Tuberous sclerosis 1 [RCV002810184] Chr9:132902682 [GRCh38]
Chr9:135778069 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3065G>A (p.Arg1022Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003045507] Chr9:132896665 [GRCh38]
Chr9:135772052 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1607T>A (p.Leu536Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003044937] Chr9:132905971 [GRCh38]
Chr9:135781358 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3406G>A (p.Asp1136Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003027494] Chr9:132896324 [GRCh38]
Chr9:135771711 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3353A>G (p.Lys1118Arg) single nucleotide variant Tuberous sclerosis 1 [RCV002770869] Chr9:132896377 [GRCh38]
Chr9:135771764 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-15CT[2] microsatellite Tuberous sclerosis 1 [RCV002898578] Chr9:132906149..132906150 [GRCh38]
Chr9:135781536..135781537 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.642G>A (p.Glu214=) single nucleotide variant Tuberous sclerosis 1 [RCV003064142]|not specified [RCV003491204] Chr9:132921840 [GRCh38]
Chr9:135797227 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+15T>C single nucleotide variant Tuberous sclerosis 1 [RCV003090677] Chr9:132912267 [GRCh38]
Chr9:135787654 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.545C>T (p.Ala182Val) single nucleotide variant Tuberous sclerosis 1 [RCV002812049] Chr9:132921937 [GRCh38]
Chr9:135797324 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-14G>A single nucleotide variant Tuberous sclerosis 1 [RCV002805993] Chr9:132921987 [GRCh38]
Chr9:135797374 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-19G>C single nucleotide variant Tuberous sclerosis 1 [RCV003093705] Chr9:132897364 [GRCh38]
Chr9:135772751 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1998-7T>C single nucleotide variant Tuberous sclerosis 1 [RCV002725850] Chr9:132904461 [GRCh38]
Chr9:135779848 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.470T>G (p.Ile157Ser) single nucleotide variant not provided [RCV003129317] Chr9:132923386 [GRCh38]
Chr9:135798773 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.270_272dup (p.Ser91_Leu92insSer) duplication Tuberous sclerosis 1 [RCV002585760] Chr9:132925677..132925678 [GRCh38]
Chr9:135801064..135801065 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+13G>A single nucleotide variant Tuberous sclerosis 1 [RCV002654920] Chr9:132905568 [GRCh38]
Chr9:135780955 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.106+10del deletion Tuberous sclerosis 1 [RCV003052673] Chr9:132928757 [GRCh38]
Chr9:135804144 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.3481C>G (p.His1161Asp) single nucleotide variant Inborn genetic diseases [RCV002722913] Chr9:132896249 [GRCh38]
Chr9:135771636 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+20C>G single nucleotide variant Tuberous sclerosis 1 [RCV003069334] Chr9:132912262 [GRCh38]
Chr9:135787649 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.967C>G (p.Pro323Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003093530] Chr9:132911515 [GRCh38]
Chr9:135786902 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.932del (p.Pro311fs) deletion Tuberous sclerosis 1 [RCV002942333] Chr9:132911550 [GRCh38]
Chr9:135786937 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1299C>T (p.His433=) single nucleotide variant Tuberous sclerosis 1 [RCV002584071] Chr9:132907335 [GRCh38]
Chr9:135782722 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2881G>A (p.Glu961Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002815010] Chr9:132897278 [GRCh38]
Chr9:135772665 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.146A>T (p.Tyr49Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003070413] Chr9:132927265 [GRCh38]
Chr9:135802652 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+14A>G single nucleotide variant Tuberous sclerosis 1 [RCV003070489] Chr9:132910988 [GRCh38]
Chr9:135786375 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.571C>T (p.Leu191Phe) single nucleotide variant Tuberous sclerosis 1 [RCV002815144] Chr9:132921911 [GRCh38]
Chr9:135797298 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1539A>T (p.Pro513=) single nucleotide variant Tuberous sclerosis 1 [RCV002587074] Chr9:132906039 [GRCh38]
Chr9:135781426 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1028A>T (p.Gln343Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003070942] Chr9:132911454 [GRCh38]
Chr9:135786841 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+19C>G single nucleotide variant Tuberous sclerosis 1 [RCV002607162] Chr9:132905562 [GRCh38]
Chr9:135780949 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1451G>A (p.Arg484Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003050244] Chr9:132906127 [GRCh38]
Chr9:135781514 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.679G>A (p.Val227Met) single nucleotide variant Tuberous sclerosis 1 [RCV003049791] Chr9:132921421 [GRCh38]
Chr9:135796808 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2520G>T (p.Ser840=) single nucleotide variant Tuberous sclerosis 1 [RCV002613025] Chr9:132900820 [GRCh38]
Chr9:135776207 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.963T>A (p.Asn321Lys) single nucleotide variant Tuberous sclerosis 1 [RCV002942604] Chr9:132911519 [GRCh38]
Chr9:135786906 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala) single nucleotide variant Ovarian cancer [RCV003154826] Chr9:132896303 [GRCh38]
Chr9:135771690 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.1512C>T (p.Asp504=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003295988] Chr9:132906066 [GRCh38]
Chr9:135781453 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.749_751delinsAA (p.Leu250_Glu251delinsTer) indel Hereditary cancer-predisposing syndrome [RCV003296842] Chr9:132912444..132912446 [GRCh38]
Chr9:135787831..135787833 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2614G>T (p.Asp872Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296844] Chr9:132900726 [GRCh38]
Chr9:135776113 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3207A>C (p.Glu1069Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296850] Chr9:132896523 [GRCh38]
Chr9:135771910 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2445G>T (p.Lys815Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296855] Chr9:132901646 [GRCh38]
Chr9:135777033 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2102A>C (p.Gln701Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296857] Chr9:132903757 [GRCh38]
Chr9:135779144 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2087T>G (p.Leu696Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296860] Chr9:132903772 [GRCh38]
Chr9:135779159 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1983C>A (p.Ser661Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296861] Chr9:132905595 [GRCh38]
Chr9:135780982 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1910A>G (p.Glu637Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296880] Chr9:132905668 [GRCh38]
Chr9:135781055 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1060G>A (p.Gly354Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296882] Chr9:132911083 [GRCh38]
Chr9:135786470 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3022A>C (p.Asn1008His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296883] Chr9:132896708 [GRCh38]
Chr9:135772095 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1881G>T (p.Leu627=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296884]|Tuberous sclerosis 1 [RCV003614221] Chr9:132905697 [GRCh38]
Chr9:135781084 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2447A>G (p.Lys816Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296885] Chr9:132901644 [GRCh38]
Chr9:135777031 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2505C>G (p.Leu835=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296888] Chr9:132900835 [GRCh38]
Chr9:135776222 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1634C>G (p.Pro545Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296891] Chr9:132905944 [GRCh38]
Chr9:135781331 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1172C>T (p.Pro391Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003296892] Chr9:132910662 [GRCh38]
Chr9:135786049 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2144G>T (p.Arg715Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176674] Chr9:132903715 [GRCh38]
Chr9:135779102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1418T>A (p.Ile473Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176675] Chr9:132906751 [GRCh38]
Chr9:135782138 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.659T>A (p.Val220Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176676] Chr9:132921823 [GRCh38]
Chr9:135797210 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1263+37C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176677] Chr9:132910534 [GRCh38]
Chr9:135785921 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2608C>G (p.His870Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176684] Chr9:132900732 [GRCh38]
Chr9:135776119 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.897C>T (p.Asp299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168068] Chr9:132912298 [GRCh38]
Chr9:135787685 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.319C>G (p.Leu107Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168069] Chr9:132925631 [GRCh38]
Chr9:135801018 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.812A>G (p.Tyr271Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168072] Chr9:132912383 [GRCh38]
Chr9:135787770 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2728T>C (p.Leu910=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168078] Chr9:132897508 [GRCh38]
Chr9:135772895 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3173C>T (p.Pro1058Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168079] Chr9:132896557 [GRCh38]
Chr9:135771944 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3366C>T (p.Gly1122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168080] Chr9:132896364 [GRCh38]
Chr9:135771751 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-74_2392-1del deletion not provided [RCV003132966] Chr9:132901700..132901773 [GRCh38]
Chr9:135777087..135777160 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2291T>A (p.Leu764His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003197989] Chr9:132902705 [GRCh38]
Chr9:135778092 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2972_2975del (p.Glu991fs) deletion not provided [RCV003218889] Chr9:132897184..132897187 [GRCh38]
Chr9:135772571..135772574 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2327A>G (p.His776Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003203007]|Tuberous sclerosis 1 [RCV003614210] Chr9:132902669 [GRCh38]
Chr9:135778056 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176665] Chr9:132927253 [GRCh38]
Chr9:135802640 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.902A>T (p.Gln301Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176666] Chr9:132912293 [GRCh38]
Chr9:135787680 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2927A>G (p.Lys976Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176667] Chr9:132897232 [GRCh38]
Chr9:135772619 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2873T>C (p.Phe958Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168070] Chr9:132897286 [GRCh38]
Chr9:135772673 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2364A>C (p.Glu788Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168071] Chr9:132902632 [GRCh38]
Chr9:135778019 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2474A>G (p.Glu825Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168073] Chr9:132901617 [GRCh38]
Chr9:135777004 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2172C>T (p.Ile724=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168075] Chr9:132903687 [GRCh38]
Chr9:135779074 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3102T>C (p.Gly1034=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176683] Chr9:132896628 [GRCh38]
Chr9:135772015 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3065G>C (p.Arg1022Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003198169] Chr9:132896665 [GRCh38]
Chr9:135772052 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2073_2074delinsTT (p.Arg692Ter) indel Tuberous sclerosis 1 [RCV003140389] Chr9:132903785..132903786 [GRCh38]
Chr9:135779172..135779173 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3155C>G (p.Pro1052Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181043] Chr9:132896575 [GRCh38]
Chr9:135771962 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3333del (p.Ser1111fs) deletion Hereditary cancer-predisposing syndrome [RCV003168066] Chr9:132896397 [GRCh38]
Chr9:135771784 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.35_69del (p.Ala12fs) deletion Hereditary cancer-predisposing syndrome [RCV003168067]|Isolated focal cortical dysplasia type II [RCV003459791] Chr9:132928804..132928838 [GRCh38]
Chr9:135804191..135804225 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3277C>G (p.Arg1093Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168076] Chr9:132896453 [GRCh38]
Chr9:135771840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2291_2292delinsAA (p.Leu764Gln) indel Hereditary cancer-predisposing syndrome [RCV003168077] Chr9:132902704..132902705 [GRCh38]
Chr9:135778091..135778092 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2292C>A (p.Leu764=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003181245] Chr9:132902704 [GRCh38]
Chr9:135778091 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.623G>A (p.Ser208Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216401] Chr9:132921859 [GRCh38]
Chr9:135797246 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.367G>A (p.Asp123Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216403] Chr9:132923489 [GRCh38]
Chr9:135798876 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2192A>T (p.Glu731Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216407] Chr9:132903667 [GRCh38]
Chr9:135779054 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.394G>A (p.Gly132Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176668] Chr9:132923462 [GRCh38]
Chr9:135798849 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3406G>C (p.Asp1136His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176669] Chr9:132896324 [GRCh38]
Chr9:135771711 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2331C>T (p.Ser777=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176670] Chr9:132902665 [GRCh38]
Chr9:135778052 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2763C>A (p.His921Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176672] Chr9:132897473 [GRCh38]
Chr9:135772860 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176673]|Tuberous sclerosis 1 [RCV003505304] Chr9:132903685 [GRCh38]
Chr9:135779072 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.377T>C (p.Val126Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176678] Chr9:132923479 [GRCh38]
Chr9:135798866 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2667A>T (p.Glu889Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176679] Chr9:132897569 [GRCh38]
Chr9:135772956 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2097C>G (p.His699Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176680] Chr9:132903762 [GRCh38]
Chr9:135779149 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1689T>C (p.Asp563=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176681] Chr9:132905889 [GRCh38]
Chr9:135781276 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176682]|Tuberous sclerosis 1 [RCV003614206] Chr9:132896691 [GRCh38]
Chr9:135772078 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1866G>T (p.Arg622Ser) single nucleotide variant not provided [RCV003214151] Chr9:132905712 [GRCh38]
Chr9:135781099 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502G>A (p.Lys834=) single nucleotide variant Tuberous sclerosis 1 [RCV003225613] Chr9:132901589 [GRCh38]
Chr9:135776976 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.738-1252G>A single nucleotide variant not provided [RCV003322120] Chr9:132913709 [GRCh38]
Chr9:135789096 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1641A>G (p.Thr547=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305417]|Tuberous sclerosis 1 [RCV003505321] Chr9:132905937 [GRCh38]
Chr9:135781324 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3070A>T (p.Ser1024Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305418] Chr9:132896660 [GRCh38]
Chr9:135772047 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3073A>T (p.Ser1025Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305420] Chr9:132896657 [GRCh38]
Chr9:135772044 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.293G>T (p.Arg98Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003305421] Chr9:132925657 [GRCh38]
Chr9:135801044 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3035C>G (p.Ser1012Cys) single nucleotide variant not provided [RCV003328905] Chr9:132896695 [GRCh38]
Chr9:135772082 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*2437G>A single nucleotide variant not provided [RCV003327224] Chr9:132893798 [GRCh38]
Chr9:135769185 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2405dup (p.Asp802fs) duplication Tuberous sclerosis 1 [RCV003337901] Chr9:132901685..132901686 [GRCh38]
Chr9:135777072..135777073 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379967]|Tuberous sclerosis 1 [RCV003505342] Chr9:132896728 [GRCh38]
Chr9:135772115 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2087T>C (p.Leu696Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379965] Chr9:132903772 [GRCh38]
Chr9:135779159 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379964]|Tuberous sclerosis 1 [RCV003614232] Chr9:132896539 [GRCh38]
Chr9:135771926 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.761A>T (p.Asp254Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379960] Chr9:132912434 [GRCh38]
Chr9:135787821 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3109G>A (p.Gly1037Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379974] Chr9:132896621 [GRCh38]
Chr9:135772008 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3222C>T (p.Ile1074=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003345172] Chr9:132896508 [GRCh38]
Chr9:135771895 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1222C>T (p.His408Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379972] Chr9:132910612 [GRCh38]
Chr9:135785999 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1061G>A (p.Gly354Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379955] Chr9:132911082 [GRCh38]
Chr9:135786469 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379959]|Tuberous sclerosis 1 [RCV003614231] Chr9:132901639 [GRCh38]
Chr9:135777026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys) indel Hereditary cancer-predisposing syndrome [RCV003379962]|Tuberous sclerosis 1 [RCV003778126] Chr9:132896354..132896355 [GRCh38]
Chr9:135771741..135771742 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003345615] Chr9:132923401 [GRCh38]
Chr9:135798788 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2919C>T (p.Gly973=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379973] Chr9:132897240 [GRCh38]
Chr9:135772627 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379552]|Tuberous sclerosis 1 [RCV003614230] Chr9:132903721 [GRCh38]
Chr9:135779108 [GRCh37]
Chr9:9q34.13		 likely benign|uncertain significance
NM_000368.5(TSC1):c.3105T>C (p.Gly1035=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379963] Chr9:132896625 [GRCh38]
Chr9:135772012 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1363A>G (p.Thr455Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379957] Chr9:132906806 [GRCh38]
Chr9:135782193 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1476A>G (p.Ala492=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379958] Chr9:132906102 [GRCh38]
Chr9:135781489 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379961]|Tuberous sclerosis 1 [RCV003778125] Chr9:132906086 [GRCh38]
Chr9:135781473 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1075C>G (p.Pro359Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379975] Chr9:132911068 [GRCh38]
Chr9:135786455 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2043C>A (p.Gly681=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379971] Chr9:132903816 [GRCh38]
Chr9:135779203 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1803T>A (p.Pro601=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379969] Chr9:132905775 [GRCh38]
Chr9:135781162 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.589del (p.Cys197fs) deletion Malignant tumor of urinary bladder [RCV003332960] Chr9:132921893 [GRCh38]
Chr9:135797280 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.556del (p.Ala186fs) deletion Malignant tumor of urinary bladder [RCV003332983] Chr9:132921926 [GRCh38]
Chr9:135797313 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-43C>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV003464704] Chr9:132921479 [GRCh38]
Chr9:135796866 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs) duplication Isolated focal cortical dysplasia type II [RCV003464706]|Tuberous sclerosis 1 [RCV003614239] Chr9:132897264..132897265 [GRCh38]
Chr9:135772651..135772652 [GRCh37]
Chr9:9q34.13		 likely pathogenic|uncertain significance
NM_000368.5(TSC1):c.63G>A (p.Val21=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003363733] Chr9:132928810 [GRCh38]
Chr9:135804197 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2155C>G (p.Leu719Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003363869] Chr9:132903704 [GRCh38]
Chr9:135779091 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003363921]|Tuberous sclerosis 1 [RCV003614228] Chr9:132910600 [GRCh38]
Chr9:135785987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2604C>G (p.Asn868Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003505438] Chr9:132900736 [GRCh38]
Chr9:135776123 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2932C>T (p.Leu978Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003505734] Chr9:132897227 [GRCh38]
Chr9:135772614 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.222C>G (p.Asp74Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003505736] Chr9:132925728 [GRCh38]
Chr9:135801115 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1987_1988delinsTT (p.Glu663Leu) indel Tuberous sclerosis 1 [RCV003505746] Chr9:132905590..132905591 [GRCh38]
Chr9:135780977..135780978 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.716A>G (p.Asp239Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003506228] Chr9:132921384 [GRCh38]
Chr9:135796771 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107-13T>C single nucleotide variant Tuberous sclerosis 1 [RCV003506308] Chr9:132927317 [GRCh38]
Chr9:135802704 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2215C>G (p.Gln739Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003504926] Chr9:132902781 [GRCh38]
Chr9:135778168 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2681dup (p.His894fs) duplication Tuberous sclerosis 1 [RCV003505472] Chr9:132897554..132897555 [GRCh38]
Chr9:135772941..135772942 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.526T>C (p.Tyr176His) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474201] Chr9:132921956 [GRCh38]
Chr9:135797343 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1312C>T (p.Leu438Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003505732] Chr9:132907322 [GRCh38]
Chr9:135782709 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.194A>C (p.Gln65Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003505762] Chr9:132927217 [GRCh38]
Chr9:135802604 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1161T>C (p.Pro387=) single nucleotide variant Tuberous sclerosis 1 [RCV003505764] Chr9:132910673 [GRCh38]
Chr9:135786060 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1351A>C (p.Lys451Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003505766] Chr9:132906818 [GRCh38]
Chr9:135782205 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3176T>G (p.Phe1059Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003505768] Chr9:132896554 [GRCh38]
Chr9:135771941 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2356del (p.Arg786fs) deletion Tuberous sclerosis 1 [RCV003505486] Chr9:132902640 [GRCh38]
Chr9:135778027 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.171A>T (p.Ala57=) single nucleotide variant Tuberous sclerosis 1 [RCV003505491] Chr9:132927240 [GRCh38]
Chr9:135802627 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.857del (p.Pro286fs) deletion Tuberous sclerosis 1 [RCV003505501] Chr9:132912338 [GRCh38]
Chr9:135787725 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2722C>A (p.Arg908=) single nucleotide variant Tuberous sclerosis 1 [RCV003505502] Chr9:132897514 [GRCh38]
Chr9:135772901 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+2T>G single nucleotide variant Tuberous sclerosis 1 [RCV003505784] Chr9:132912280 [GRCh38]
Chr9:135787667 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2720A>C (p.Lys907Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505790] Chr9:132897516 [GRCh38]
Chr9:135772903 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3328A>C (p.Thr1110Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003506112] Chr9:132896402 [GRCh38]
Chr9:135771789 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1479G>C (p.Glu493Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003505507] Chr9:132906099 [GRCh38]
Chr9:135781486 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1480del (p.Ala494fs) deletion Tuberous sclerosis 1 [RCV003505508] Chr9:132906098 [GRCh38]
Chr9:135781485 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.12A>T (p.Gln4His) single nucleotide variant Tuberous sclerosis 1 [RCV003505510] Chr9:132928861 [GRCh38]
Chr9:135804248 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2213_2214insGACCAGTCTTTTGTAAC (p.Asp738delinsGluThrSerLeuLeuTer) insertion Tuberous sclerosis 1 [RCV003505513] Chr9:132902782..132902783 [GRCh38]
Chr9:135778169..135778170 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.488C>G (p.Ser163Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505517] Chr9:132923368 [GRCh38]
Chr9:135798755 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2436A>G (p.Ile812Met) single nucleotide variant Tuberous sclerosis 1 [RCV003505518] Chr9:132901655 [GRCh38]
Chr9:135777042 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2635dup (p.Met879fs) duplication Tuberous sclerosis 1 [RCV003505519] Chr9:132897600..132897601 [GRCh38]
Chr9:135772987..135772988 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1595A>G (p.Asn532Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003505794] Chr9:132905983 [GRCh38]
Chr9:135781370 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-6T>C single nucleotide variant Tuberous sclerosis 1 [RCV003505798] Chr9:132897616 [GRCh38]
Chr9:135773003 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.513_514insT (p.Val172fs) insertion Tuberous sclerosis 1 [RCV003505810] Chr9:132921968..132921969 [GRCh38]
Chr9:135797355..135797356 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.7C>T (p.Gln3Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003450557] Chr9:132928866 [GRCh38]
Chr9:135804253 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.24G>C (p.Gly8=) single nucleotide variant Tuberous sclerosis 1 [RCV003505535] Chr9:132928849 [GRCh38]
Chr9:135804236 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2254G>C (p.Val752Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003505541] Chr9:132902742 [GRCh38]
Chr9:135778129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1573A>T (p.Ser525Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003505816] Chr9:132906005 [GRCh38]
Chr9:135781392 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2197A>C (p.Asn733His) single nucleotide variant Tuberous sclerosis 1 [RCV003875345] Chr9:132903662 [GRCh38]
Chr9:135779049 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2629G>C (p.Val877Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003505817] Chr9:132897607 [GRCh38]
Chr9:135772994 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1044C>A (p.Ser348Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003505818] Chr9:132911099 [GRCh38]
Chr9:135786486 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3372C>G (p.Asp1124Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003505820] Chr9:132896358 [GRCh38]
Chr9:135771745 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2064C>G (p.Ile688Met) single nucleotide variant Tuberous sclerosis 1 [RCV003505822] Chr9:132903795 [GRCh38]
Chr9:135779182 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-20T>G single nucleotide variant Tuberous sclerosis 1 [RCV003505856] Chr9:132923512 [GRCh38]
Chr9:135798899 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1629T>C (p.Leu543=) single nucleotide variant Tuberous sclerosis 1 [RCV003505859] Chr9:132905949 [GRCh38]
Chr9:135781336 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.746G>A (p.Arg249Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003505860] Chr9:132912449 [GRCh38]
Chr9:135787836 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3331A>G (p.Ser1111Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003505861] Chr9:132896399 [GRCh38]
Chr9:135771786 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1899_1900insTATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAGCAAAAGGA (p.Asn634fs) insertion Tuberous sclerosis 1 [RCV003505866] Chr9:132905678..132905679 [GRCh38]
Chr9:135781065..135781066 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2285del (p.Asn762fs) deletion Tuberous sclerosis 1 [RCV003504906] Chr9:132902711 [GRCh38]
Chr9:135778098 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2578G>T (p.Glu860Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003504954] Chr9:132900762 [GRCh38]
Chr9:135776149 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1548del (p.Gln516fs) deletion Tuberous sclerosis 1 [RCV003504968] Chr9:132906030 [GRCh38]
Chr9:135781417 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3192G>T (p.Glu1064Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003504969] Chr9:132896538 [GRCh38]
Chr9:135771925 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2083T>G (p.Leu695Val) single nucleotide variant Tuberous sclerosis 1 [RCV003505548] Chr9:132903776 [GRCh38]
Chr9:135779163 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3074G>C (p.Ser1025Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505559] Chr9:132896656 [GRCh38]
Chr9:135772043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1797G>A (p.Gly599=) single nucleotide variant Tuberous sclerosis 1 [RCV003505560] Chr9:132905781 [GRCh38]
Chr9:135781168 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1648C>T (p.Gln550Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505562] Chr9:132905930 [GRCh38]
Chr9:135781317 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.533T>G (p.Val178Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003505834] Chr9:132921949 [GRCh38]
Chr9:135797336 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107A>C (p.Asp36Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003505837] Chr9:132927304 [GRCh38]
Chr9:135802691 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.211-3C>A single nucleotide variant Tuberous sclerosis 1 [RCV003505841] Chr9:132925742 [GRCh38]
Chr9:135801129 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.421_422insTCTAC (p.Pro141fs) insertion Tuberous sclerosis 1 [RCV003505849] Chr9:132923434..132923435 [GRCh38]
Chr9:135798821..135798822 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2392-6G>A single nucleotide variant Tuberous sclerosis 1 [RCV003505871] Chr9:132901705 [GRCh38]
Chr9:135777092 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del) deletion Tuberous sclerosis 1 [RCV003505873] Chr9:132925607..132925612 [GRCh38]
Chr9:135800994..135800999 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2470_2479del (p.Thr824fs) deletion Tuberous sclerosis 1 [RCV003506223] Chr9:132901612..132901621 [GRCh38]
Chr9:135776999..135777008 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.712A>G (p.Lys238Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003505016] Chr9:132921388 [GRCh38]
Chr9:135796775 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1345G>A (p.Gly449Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003504627] Chr9:132906824 [GRCh38]
Chr9:135782211 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2000T>C (p.Leu667Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003504701] Chr9:132904452 [GRCh38]
Chr9:135779839 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1732A>G (p.Thr578Ala) single nucleotide variant not provided [RCV003457172] Chr9:132905846 [GRCh38]
Chr9:135781233 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-16C>G single nucleotide variant Tuberous sclerosis 1 [RCV003505575] Chr9:132900853 [GRCh38]
Chr9:135776240 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1477G>C (p.Glu493Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003505592] Chr9:132906101 [GRCh38]
Chr9:135781488 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3347G>C (p.Ser1116Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505889] Chr9:132896383 [GRCh38]
Chr9:135771770 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2626-15_2626-4del deletion Tuberous sclerosis 1 [RCV003505895] Chr9:132897614..132897625 [GRCh38]
Chr9:135773001..135773012 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1753C>A (p.Pro585Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505898] Chr9:132905825 [GRCh38]
Chr9:135781212 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.710C>T (p.Ser237Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003504592] Chr9:132921390 [GRCh38]
Chr9:135796777 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1333+6A>T single nucleotide variant Tuberous sclerosis 1 [RCV003504608] Chr9:132907295 [GRCh38]
Chr9:135782682 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.4G>A (p.Ala2Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003504631] Chr9:132928869 [GRCh38]
Chr9:135804256 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1043G>T (p.Ser348Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003505027] Chr9:132911100 [GRCh38]
Chr9:135786487 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2081del (p.Gln694fs) deletion Tuberous sclerosis 1 [RCV003505028] Chr9:132903778 [GRCh38]
Chr9:135779165 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.366G>A (p.Met122Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003505029] Chr9:132923490 [GRCh38]
Chr9:135798877 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1690G>T (p.Glu564Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003505033] Chr9:132905888 [GRCh38]
Chr9:135781275 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.805G>A (p.Ala269Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505037] Chr9:132912390 [GRCh38]
Chr9:135787777 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.663+2T>C single nucleotide variant Tuberous sclerosis 1 [RCV003504759] Chr9:132921817 [GRCh38]
Chr9:135797204 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2975+20T>G single nucleotide variant Tuberous sclerosis 1 [RCV003504799] Chr9:132897164 [GRCh38]
Chr9:135772551 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2469C>T (p.His823=) single nucleotide variant Tuberous sclerosis 1 [RCV003504808] Chr9:132901622 [GRCh38]
Chr9:135777009 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1638C>A (p.Asp546Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003504824] Chr9:132905940 [GRCh38]
Chr9:135781327 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+11C>A single nucleotide variant Tuberous sclerosis 1 [RCV003504856] Chr9:132910991 [GRCh38]
Chr9:135786378 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2156TCC[1] (p.Leu720del) microsatellite Tuberous sclerosis 1 [RCV003504888] Chr9:132903698..132903700 [GRCh38]
Chr9:135779085..135779087 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.340C>G (p.Pro114Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003504897] Chr9:132925610 [GRCh38]
Chr9:135800997 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+5G>T single nucleotide variant Tuberous sclerosis 1 [RCV003504936] Chr9:132911448 [GRCh38]
Chr9:135786835 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.129delinsAA (p.Asn43fs) indel Tuberous sclerosis 1 [RCV003452622] Chr9:132927282 [GRCh38]
Chr9:135802669 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-1G>C single nucleotide variant Isolated focal cortical dysplasia type II [RCV003464703] Chr9:132927305 [GRCh38]
Chr9:135802692 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1997+12G>A single nucleotide variant Tuberous sclerosis 1 [RCV003505597] Chr9:132905569 [GRCh38]
Chr9:135780956 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2652_2664del (p.Ala883_Tyr884insTer) deletion Tuberous sclerosis 1 [RCV003505907] Chr9:132897572..132897584 [GRCh38]
Chr9:135772959..135772971 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2335A>C (p.Ile779Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003505912] Chr9:132902661 [GRCh38]
Chr9:135778048 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3363G>A (p.Leu1121=) single nucleotide variant Tuberous sclerosis 1 [RCV003505914] Chr9:132896367 [GRCh38]
Chr9:135771754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.211-8A>T single nucleotide variant Tuberous sclerosis 1 [RCV003505915] Chr9:132925747 [GRCh38]
Chr9:135801134 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.979C>T (p.Pro327Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003505917] Chr9:132911503 [GRCh38]
Chr9:135786890 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2709T>A (p.Asp903Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003506104] Chr9:132897527 [GRCh38]
Chr9:135772914 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.210+11A>C single nucleotide variant Tuberous sclerosis 1 [RCV003506184] Chr9:132927190 [GRCh38]
Chr9:135802577 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.573T>G (p.Leu191=) single nucleotide variant Tuberous sclerosis 1 [RCV003505056] Chr9:132921909 [GRCh38]
Chr9:135797296 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2435T>C (p.Ile812Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003505060] Chr9:132901656 [GRCh38]
Chr9:135777043 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2332C>A (p.Gln778Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003505071] Chr9:132902664 [GRCh38]
Chr9:135778051 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.557C>T (p.Ala186Val) single nucleotide variant Tuberous sclerosis 1 [RCV003505075] Chr9:132921925 [GRCh38]
Chr9:135797312 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3304A>T (p.Ser1102Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003504999] Chr9:132896426 [GRCh38]
Chr9:135771813 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1598del (p.Pro533fs) deletion Tuberous sclerosis 1 [RCV003505059] Chr9:132905980 [GRCh38]
Chr9:135781367 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.211-8A>C single nucleotide variant Tuberous sclerosis 1 [RCV003505074] Chr9:132925747 [GRCh38]
Chr9:135801134 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.723A>G (p.Glu241=) single nucleotide variant Tuberous sclerosis 1 [RCV003505623] Chr9:132921377 [GRCh38]
Chr9:135796764 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2210A>T (p.Lys737Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003505641] Chr9:132902786 [GRCh38]
Chr9:135778173 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.661A>G (p.Lys221Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003874032] Chr9:132921821 [GRCh38]
Chr9:135797208 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391+13G>A single nucleotide variant Tuberous sclerosis 1 [RCV003505925] Chr9:132902592 [GRCh38]
Chr9:135777979 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.482T>A (p.Leu161Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003505929] Chr9:132923374 [GRCh38]
Chr9:135798761 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1647G>T (p.Lys549Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003504744] Chr9:132905931 [GRCh38]
Chr9:135781318 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2077_2078dup (p.Asp693fs) microsatellite Tuberous sclerosis 1 [RCV003504758] Chr9:132903780..132903781 [GRCh38]
Chr9:135779167..135779168 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2560G>A (p.Val854Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003504769] Chr9:132900780 [GRCh38]
Chr9:135776167 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1558C>A (p.His520Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003504770] Chr9:132906020 [GRCh38]
Chr9:135781407 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1142C>G (p.Ala381Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003504795] Chr9:132910692 [GRCh38]
Chr9:135786079 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2797G>A (p.Val933Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003505661] Chr9:132897439 [GRCh38]
Chr9:135772826 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.737+12A>G single nucleotide variant Tuberous sclerosis 1 [RCV003505662] Chr9:132921351 [GRCh38]
Chr9:135796738 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.863G>C (p.Arg288Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003505663] Chr9:132912332 [GRCh38]
Chr9:135787719 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.488C>T (p.Ser163Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003505954] Chr9:132923368 [GRCh38]
Chr9:135798755 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.184A>G (p.Thr62Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003505964] Chr9:132927227 [GRCh38]
Chr9:135802614 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-8C>T single nucleotide variant Tuberous sclerosis 1 [RCV003505965] Chr9:132907378 [GRCh38]
Chr9:135782765 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2903G>A (p.Arg968Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003506243] Chr9:132897256 [GRCh38]
Chr9:135772643 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2908G>A (p.Glu970Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003506247] Chr9:132897251 [GRCh38]
Chr9:135772638 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1738A>T (p.Ile580Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003504838] Chr9:132905840 [GRCh38]
Chr9:135781227 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-9C>T single nucleotide variant Tuberous sclerosis 1 [RCV003504855] Chr9:132923501 [GRCh38]
Chr9:135798888 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3044A>G (p.Asn1015Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003504777] Chr9:132896686 [GRCh38]
Chr9:135772073 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2813+10A>C single nucleotide variant Tuberous sclerosis 1 [RCV003505578] Chr9:132897413 [GRCh38]
Chr9:135772800 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2229A>G (p.Gln743=) single nucleotide variant Tuberous sclerosis 1 [RCV003505671] Chr9:132902767 [GRCh38]
Chr9:135778154 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3021C>A (p.His1007Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003505977] Chr9:132896709 [GRCh38]
Chr9:135772096 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.506C>A (p.Pro169Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003506260] Chr9:132923350 [GRCh38]
Chr9:135798737 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1096C>A (p.Pro366Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003874178] Chr9:132911047 [GRCh38]
Chr9:135786434 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1439-10T>C single nucleotide variant Tuberous sclerosis 1 [RCV003504588] Chr9:132906149 [GRCh38]
Chr9:135781536 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1264-16A>T single nucleotide variant Tuberous sclerosis 1 [RCV003504642] Chr9:132907386 [GRCh38]
Chr9:135782773 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.462C>G (p.Phe154Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003504869] Chr9:132923394 [GRCh38]
Chr9:135798781 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+16G>T single nucleotide variant Tuberous sclerosis 1 [RCV003504985] Chr9:132910986 [GRCh38]
Chr9:135786373 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2231A>G (p.Glu744Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003505019] Chr9:132902765 [GRCh38]
Chr9:135778152 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2975+15C>T single nucleotide variant Tuberous sclerosis 1 [RCV003505035] Chr9:132897169 [GRCh38]
Chr9:135772556 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.738-19C>T single nucleotide variant Tuberous sclerosis 1 [RCV003504678] Chr9:132912476 [GRCh38]
Chr9:135787863 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.11A>C (p.Gln4Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003504695] Chr9:132928862 [GRCh38]
Chr9:135804249 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.745A>C (p.Arg249=) single nucleotide variant Tuberous sclerosis 1 [RCV003504774] Chr9:132912450 [GRCh38]
Chr9:135787837 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2913del (p.Asp972fs) deletion Tuberous sclerosis 1 [RCV003504928] Chr9:132897246 [GRCh38]
Chr9:135772633 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.484_498del (p.Ser162_Leu166del) deletion Tuberous sclerosis 1 [RCV003504949] Chr9:132923358..132923372 [GRCh38]
Chr9:135798745..135798759 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1621G>A (p.Asp541Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003505351] Chr9:132905957 [GRCh38]
Chr9:135781344 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.821G>C (p.Gly274Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003505352] Chr9:132912374 [GRCh38]
Chr9:135787761 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2463_2466del (p.Cys822fs) microsatellite Tuberous sclerosis 1 [RCV003505353] Chr9:132901625..132901628 [GRCh38]
Chr9:135777012..135777015 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1677C>G (p.Cys559Trp) single nucleotide variant Tuberous sclerosis 1 [RCV003505365] Chr9:132905901 [GRCh38]
Chr9:135781288 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.439G>A (p.Gly147Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003505385] Chr9:132923417 [GRCh38]
Chr9:135798804 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030-18A>G single nucleotide variant Tuberous sclerosis 1 [RCV003505431] Chr9:132911131 [GRCh38]
Chr9:135786518 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2105_2108dup (p.Tyr704fs) duplication Tuberous sclerosis 1 [RCV003505453] Chr9:132903750..132903751 [GRCh38]
Chr9:135779137..135779138 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2976-4dup duplication Tuberous sclerosis 1 [RCV003505683] Chr9:132896757..132896758 [GRCh38]
Chr9:135772144..135772145 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3059C>A (p.Thr1020Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003506011] Chr9:132896671 [GRCh38]
Chr9:135772058 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1903A>C (p.Thr635Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003506019] Chr9:132905675 [GRCh38]
Chr9:135781062 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.358C>T (p.Leu120Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003506292] Chr9:132925592 [GRCh38]
Chr9:135800979 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+16T>G single nucleotide variant Tuberous sclerosis 1 [RCV003504785] Chr9:132928751 [GRCh38]
Chr9:135804138 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1189C>G (p.Pro397Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003504815] Chr9:132910645 [GRCh38]
Chr9:135786032 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1491_1493dup (p.Val498_Pro499insVal) duplication Tuberous sclerosis 1 [RCV003504823] Chr9:132906084..132906085 [GRCh38]
Chr9:135781471..135781472 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+16G>A single nucleotide variant Tuberous sclerosis 1 [RCV003504850] Chr9:132911437 [GRCh38]
Chr9:135786824 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1263+8C>T single nucleotide variant Tuberous sclerosis 1 [RCV003504862] Chr9:132910563 [GRCh38]
Chr9:135785950 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.828T>C (p.Ser276=) single nucleotide variant Tuberous sclerosis 1 [RCV003505372] Chr9:132912367 [GRCh38]
Chr9:135787754 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.116del (p.Pro39fs) deletion Tuberous sclerosis 1 [RCV003505373] Chr9:132927295 [GRCh38]
Chr9:135802682 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2814-4T>C single nucleotide variant Tuberous sclerosis 1 [RCV003505383] Chr9:132897349 [GRCh38]
Chr9:135772736 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2820G>A (p.Gln940=) single nucleotide variant Tuberous sclerosis 1 [RCV003505384] Chr9:132897339 [GRCh38]
Chr9:135772726 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.479G>C (p.Arg160Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003505389] Chr9:132923377 [GRCh38]
Chr9:135798764 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2208+7A>T single nucleotide variant Isolated focal cortical dysplasia type II [RCV003466455] Chr9:132903644 [GRCh38]
Chr9:135779031 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2802A>T (p.Lys934Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003505469] Chr9:132897434 [GRCh38]
Chr9:135772821 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1054G>C (p.Val352Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003505545] Chr9:132911089 [GRCh38]
Chr9:135786476 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.93G>A (p.Glu31=) single nucleotide variant Tuberous sclerosis 1 [RCV003505699] Chr9:132928780 [GRCh38]
Chr9:135804167 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2112_2125del (p.Tyr704_Arg709delinsTer) deletion Tuberous sclerosis 1 [RCV003505708] Chr9:132903734..132903747 [GRCh38]
Chr9:135779121..135779134 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2983T>C (p.Cys995Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003506031] Chr9:132896747 [GRCh38]
Chr9:135772134 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.363+11T>C single nucleotide variant Tuberous sclerosis 1 [RCV003506047] Chr9:132925576 [GRCh38]
Chr9:135800963 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1032T>A (p.Ala344=) single nucleotide variant Tuberous sclerosis 1 [RCV003506296] Chr9:132911111 [GRCh38]
Chr9:135786498 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1183C>G (p.Pro395Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003505390] Chr9:132910651 [GRCh38]
Chr9:135786038 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.957G>C (p.Leu319Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003505391] Chr9:132911525 [GRCh38]
Chr9:135786912 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2373C>T (p.Asn791=) single nucleotide variant Tuberous sclerosis 1 [RCV003505407] Chr9:132902623 [GRCh38]
Chr9:135778010 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.146A>G (p.Tyr49Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003505716] Chr9:132927265 [GRCh38]
Chr9:135802652 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1459T>C (p.Ser487Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003505717] Chr9:132906119 [GRCh38]
Chr9:135781506 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+11T>C single nucleotide variant Tuberous sclerosis 1 [RCV003505726] Chr9:132904400 [GRCh38]
Chr9:135779787 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2126G>A (p.Arg709Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003506064] Chr9:132903733 [GRCh38]
Chr9:135779120 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3410G>A (p.Gly1137Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003506174] Chr9:132896320 [GRCh38]
Chr9:135771707 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474193] Chr9:132903766 [GRCh38]
Chr9:135779153 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474203] Chr9:132912399 [GRCh38]
Chr9:135787786 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1897G>C (p.Gly633Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003505425] Chr9:132905681 [GRCh38]
Chr9:135781068 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474194] Chr9:132903757 [GRCh38]
Chr9:135779144 [GRCh37]
Chr9:9q34.13		 uncertain significance
Single allele deletion not provided [RCV003482659] Chr9:135782108..135782767 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.203A>T (p.His68Leu) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474199] Chr9:132927208 [GRCh38]
Chr9:135802595 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474200]|Tuberous sclerosis 1 [RCV003505344] Chr9:132905710 [GRCh38]
Chr9:135781097 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474192] Chr9:132903674 [GRCh38]
Chr9:135779061 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474204] Chr9:132903668 [GRCh38]
Chr9:135779055 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003448548] Chr9:132910605 [GRCh38]
Chr9:135785992 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1109C>G (p.Ser370Ter) single nucleotide variant not provided [RCV003481778] Chr9:132911034 [GRCh38]
Chr9:135786421 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del) deletion Isolated focal cortical dysplasia type II [RCV003466456] Chr9:132896538..132896540 [GRCh38]
Chr9:135771925..135771927 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474197] Chr9:132925725 [GRCh38]
Chr9:135801112 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474198] Chr9:132896506 [GRCh38]
Chr9:135771893 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474202] Chr9:132911067 [GRCh38]
Chr9:135786454 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.41T>C (p.Leu14Pro) single nucleotide variant TSC1-related condition [RCV003405755] Chr9:132928832 [GRCh38]
Chr9:135804219 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3375G>C (p.Leu1125Phe) single nucleotide variant not provided [RCV003441376] Chr9:132896355 [GRCh38]
Chr9:135771742 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913G>C (p.Gly305Arg) single nucleotide variant TSC1-related condition [RCV003420893] Chr9:132912282 [GRCh38]
Chr9:135787669 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474195] Chr9:132927238 [GRCh38]
Chr9:135802625 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003474196] Chr9:132905612 [GRCh38]
Chr9:135780999 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3310T>C (p.Cys1104Arg) single nucleotide variant TSC1-related condition [RCV003391622] Chr9:132896420 [GRCh38]
Chr9:135771807 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3046G>C (p.Gly1016Arg) single nucleotide variant TSC1-related condition [RCV003404444] Chr9:132896684 [GRCh38]
Chr9:135772071 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-2A>G single nucleotide variant Isolated focal cortical dysplasia type II [RCV003466459] Chr9:132907372 [GRCh38]
Chr9:135782759 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1416del (p.Ser472fs) deletion TSC1-related condition [RCV003397702] Chr9:132906753 [GRCh38]
Chr9:135782140 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3266del (p.Gly1089fs) deletion TSC1-related condition [RCV003410467] Chr9:132896464 [GRCh38]
Chr9:135771851 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.*3833C>A single nucleotide variant not provided [RCV003430348] Chr9:132892402 [GRCh38]
Chr9:135767789 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003466457] Chr9:132901621 [GRCh38]
Chr9:135777008 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003466458] Chr9:132925627 [GRCh38]
Chr9:135801014 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003464705] Chr9:132896438 [GRCh38]
Chr9:135771825 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.496C>G (p.Leu166Val) single nucleotide variant Isolated focal cortical dysplasia type II [RCV003464707]|Tuberous sclerosis 1 [RCV003614240] Chr9:132923360 [GRCh38]
Chr9:135798747 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.737G>T (p.Arg246Met) single nucleotide variant Tuberous sclerosis syndrome [RCV003388933] Chr9:132921363 [GRCh38]
Chr9:135796750 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.279G>A (p.Leu93=) single nucleotide variant Tuberous sclerosis 1 [RCV003506711] Chr9:132925671 [GRCh38]
Chr9:135801058 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.786C>A (p.Ile262=) single nucleotide variant Tuberous sclerosis 1 [RCV003876147] Chr9:132912409 [GRCh38]
Chr9:135787796 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1718A>C (p.Gln573Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003506337] Chr9:132905860 [GRCh38]
Chr9:135781247 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.408G>T (p.Leu136Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003506360] Chr9:132923448 [GRCh38]
Chr9:135798835 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV003506562] Chr9:132900838 [GRCh38]
Chr9:135776225 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2290C>T (p.Leu764Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003506610] Chr9:132902706 [GRCh38]
Chr9:135778093 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1613C>G (p.Ser538Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003506690] Chr9:132905965 [GRCh38]
Chr9:135781352 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3051G>A (p.Glu1017=) single nucleotide variant Tuberous sclerosis 1 [RCV003506603] Chr9:132896679 [GRCh38]
Chr9:135772066 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.363+19T>C single nucleotide variant Tuberous sclerosis 1 [RCV003878960] Chr9:132925568 [GRCh38]
Chr9:135800955 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3049G>C (p.Glu1017Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003506659] Chr9:132896681 [GRCh38]
Chr9:135772068 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2761C>T (p.His921Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003506739] Chr9:132897475 [GRCh38]
Chr9:135772862 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2094G>T (p.Leu698=) single nucleotide variant Tuberous sclerosis 1 [RCV003506746] Chr9:132903765 [GRCh38]
Chr9:135779152 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1141+4T>C single nucleotide variant Tuberous sclerosis 1 [RCV003879764] Chr9:132910998 [GRCh38]
Chr9:135786385 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2831C>T (p.Ala944Val) single nucleotide variant Tuberous sclerosis 1 [RCV003879817] Chr9:132897328 [GRCh38]
Chr9:135772715 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1029+14T>C single nucleotide variant Tuberous sclerosis 1 [RCV003506388] Chr9:132911439 [GRCh38]
Chr9:135786826 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1847C>G (p.Ala616Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003506510] Chr9:132905731 [GRCh38]
Chr9:135781118 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030-4C>T single nucleotide variant Tuberous sclerosis 1 [RCV003506575] Chr9:132911117 [GRCh38]
Chr9:135786504 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2311_2312del (p.Met771fs) deletion Tuberous sclerosis 1 [RCV003486539] Chr9:132902684..132902685 [GRCh38]
Chr9:135778071..135778072 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2209-7C>T single nucleotide variant Tuberous sclerosis 1 [RCV003879873] Chr9:132902794 [GRCh38]
Chr9:135778181 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.143A>G (p.Tyr48Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003506366] Chr9:132927268 [GRCh38]
Chr9:135802655 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.211-2A>G single nucleotide variant Tuberous sclerosis 1 [RCV003506563] Chr9:132925741 [GRCh38]
Chr9:135801128 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1522T>C (p.Tyr508His) single nucleotide variant Tuberous sclerosis 1 [RCV003506691] Chr9:132906056 [GRCh38]
Chr9:135781443 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391G>T (p.Gln797His) single nucleotide variant Tuberous sclerosis 1 [RCV003876690] Chr9:132902605 [GRCh38]
Chr9:135777992 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3142C>T (p.Pro1048Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003879776] Chr9:132896588 [GRCh38]
Chr9:135771975 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1390G>A (p.Gly464Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003879891] Chr9:132906779 [GRCh38]
Chr9:135782166 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030-20G>A single nucleotide variant Tuberous sclerosis 1 [RCV003506386] Chr9:132911133 [GRCh38]
Chr9:135786520 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.648_649insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACCTGGAGACTTTT (p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer) microsatellite Tuberous sclerosis 1 [RCV003506445] Chr9:132921833..132921834 [GRCh38]
Chr9:135797220..135797221 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2770T>G (p.Leu924Val) single nucleotide variant Tuberous sclerosis 1 [RCV003506381] Chr9:132897466 [GRCh38]
Chr9:135772853 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.678T>G (p.His226Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003506658] Chr9:132921422 [GRCh38]
Chr9:135796809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2923C>T (p.Leu975=) single nucleotide variant Tuberous sclerosis 1 [RCV003506700] Chr9:132897236 [GRCh38]
Chr9:135772623 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2828C>T (p.Ala943Val) single nucleotide variant Tuberous sclerosis 1 [RCV003506705] Chr9:132897331 [GRCh38]
Chr9:135772718 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1119C>T (p.Tyr373=) single nucleotide variant Tuberous sclerosis 1 [RCV003613643] Chr9:132911024 [GRCh38]
Chr9:135786411 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2625+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV003613672] Chr9:132900714 [GRCh38]
Chr9:135776101 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2474_2478del (p.Glu825fs) deletion Tuberous sclerosis 1 [RCV003613691] Chr9:132901613..132901617 [GRCh38]
Chr9:135777000..135777004 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.25G>A (p.Glu9Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003615161] Chr9:132928848 [GRCh38]
Chr9:135804235 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+13A>C single nucleotide variant Tuberous sclerosis 1 [RCV003613656] Chr9:132928754 [GRCh38]
Chr9:135804141 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1364C>G (p.Thr455Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003613670] Chr9:132906805 [GRCh38]
Chr9:135782192 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1841A>G (p.Lys614Arg) single nucleotide variant TSC1-related condition [RCV003909075]|Tuberous sclerosis 1 [RCV003613704] Chr9:132905737 [GRCh38]
Chr9:135781124 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1438+19C>T single nucleotide variant Tuberous sclerosis 1 [RCV003613683] Chr9:132906712 [GRCh38]
Chr9:135782099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2419_2420dup (p.Ala808fs) duplication Tuberous sclerosis 1 [RCV003613716] Chr9:132901670..132901671 [GRCh38]
Chr9:135777057..135777058 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003613744] Chr9:132927267 [GRCh38]
Chr9:135802654 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3143C>G (p.Pro1048Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003613760] Chr9:132896587 [GRCh38]
Chr9:135771974 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391+19G>A single nucleotide variant Tuberous sclerosis 1 [RCV003615417] Chr9:132902586 [GRCh38]
Chr9:135777973 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2674A>G (p.Arg892Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003613719] Chr9:132897562 [GRCh38]
Chr9:135772949 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.884G>T (p.Ser295Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003613722] Chr9:132912311 [GRCh38]
Chr9:135787698 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3438C>G (p.Asp1146Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003613784] Chr9:132896292 [GRCh38]
Chr9:135771679 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.550G>A (p.Val184Met) single nucleotide variant Tuberous sclerosis 1 [RCV003613757] Chr9:132921932 [GRCh38]
Chr9:135797319 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3026A>G (p.Glu1009Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003613761] Chr9:132896704 [GRCh38]
Chr9:135772091 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1464G>C (p.Glu488Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003613779] Chr9:132906114 [GRCh38]
Chr9:135781501 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3020A>G (p.His1007Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003614546] Chr9:132896710 [GRCh38]
Chr9:135772097 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1787T>G (p.Phe596Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003614554] Chr9:132905791 [GRCh38]
Chr9:135781178 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1912G>T (p.Asp638Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003614582] Chr9:132905666 [GRCh38]
Chr9:135781053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2691G>A (p.Gln897=) single nucleotide variant Tuberous sclerosis 1 [RCV003613855] Chr9:132897545 [GRCh38]
Chr9:135772932 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+15C>G single nucleotide variant Tuberous sclerosis 1 [RCV003613856] Chr9:132897169 [GRCh38]
Chr9:135772556 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.210+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV003613859] Chr9:132927200 [GRCh38]
Chr9:135802587 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.161del (p.Ser54fs) deletion Tuberous sclerosis 1 [RCV003613864] Chr9:132927250 [GRCh38]
Chr9:135802637 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.400_412dup (p.Thr138fs) duplication Tuberous sclerosis 1 [RCV003613820] Chr9:132923443..132923444 [GRCh38]
Chr9:135798830..135798831 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1333+12G>A single nucleotide variant Tuberous sclerosis 1 [RCV003613852] Chr9:132907289 [GRCh38]
Chr9:135782676 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1538_1997+108del deletion Tuberous sclerosis 1 [RCV003613873] Chr9:132905473..132906040 [GRCh38]
Chr9:135780860..135781427 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1317G>T (p.Leu439=) single nucleotide variant Tuberous sclerosis 1 [RCV003613876] Chr9:132907317 [GRCh38]
Chr9:135782704 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+12_2208+29del deletion Tuberous sclerosis 1 [RCV003613905] Chr9:132903622..132903639 [GRCh38]
Chr9:135779009..135779026 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2283C>T (p.Tyr761=) single nucleotide variant Tuberous sclerosis 1 [RCV003613866] Chr9:132902713 [GRCh38]
Chr9:135778100 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1334-30_1344del deletion Tuberous sclerosis 1 [RCV003613917] Chr9:132906825..132906865 [GRCh38]
Chr9:135782212..135782252 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3128G>A (p.Ser1043Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003613906] Chr9:132896602 [GRCh38]
Chr9:135771989 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.673G>T (p.Glu225Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003614026] Chr9:132921427 [GRCh38]
Chr9:135796814 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.64C>A (p.Arg22=) single nucleotide variant Tuberous sclerosis 1 [RCV003613988] Chr9:132928809 [GRCh38]
Chr9:135804196 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2741C>T (p.Ser914Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003614244] Chr9:132897495 [GRCh38]
Chr9:135772882 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1997+2dup duplication Tuberous sclerosis 1 [RCV003614648] Chr9:132905578..132905579 [GRCh38]
Chr9:135780965..135780966 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2702G>A (p.Arg901Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003614649] Chr9:132897534 [GRCh38]
Chr9:135772921 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2975+5G>T single nucleotide variant Tuberous sclerosis 1 [RCV003614654] Chr9:132897179 [GRCh38]
Chr9:135772566 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.924T>C (p.Thr308=) single nucleotide variant Tuberous sclerosis 1 [RCV003614657] Chr9:132911558 [GRCh38]
Chr9:135786945 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+15C>T single nucleotide variant Tuberous sclerosis 1 [RCV003615326] Chr9:132905566 [GRCh38]
Chr9:135780953 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1914del (p.Asp638fs) deletion Tuberous sclerosis 1 [RCV003614665] Chr9:132905664 [GRCh38]
Chr9:135781051 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1404T>C (p.Ser468=) single nucleotide variant Tuberous sclerosis 1 [RCV003614666] Chr9:132906765 [GRCh38]
Chr9:135782152 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1487C>T (p.Pro496Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614677] Chr9:132906091 [GRCh38]
Chr9:135781478 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.30T>A (p.Leu10=) single nucleotide variant Tuberous sclerosis 1 [RCV003614681] Chr9:132928843 [GRCh38]
Chr9:135804230 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2814-16G>A single nucleotide variant Tuberous sclerosis 1 [RCV003614651] Chr9:132897361 [GRCh38]
Chr9:135772748 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.225del (p.Ile76fs) deletion Tuberous sclerosis 1 [RCV003614702] Chr9:132925725 [GRCh38]
Chr9:135801112 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.798del (p.Thr267fs) deletion Tuberous sclerosis 1 [RCV003614708] Chr9:132912397 [GRCh38]
Chr9:135787784 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2213A>G (p.Asp738Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003614729] Chr9:132902783 [GRCh38]
Chr9:135778170 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.737+17del deletion Tuberous sclerosis 1 [RCV003614759] Chr9:132921346 [GRCh38]
Chr9:135796733 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1997+3A>C single nucleotide variant Tuberous sclerosis 1 [RCV003614764] Chr9:132905578 [GRCh38]
Chr9:135780965 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1138_1141+1del deletion Tuberous sclerosis 1 [RCV003614773] Chr9:132911001..132911005 [GRCh38]
Chr9:135786388..135786392 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1978C>T (p.His660Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003614783] Chr9:132905600 [GRCh38]
Chr9:135780987 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1263+7T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614809] Chr9:132910564 [GRCh38]
Chr9:135785951 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+8G>A single nucleotide variant Tuberous sclerosis 1 [RCV003614830] Chr9:132912274 [GRCh38]
Chr9:135787661 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2743C>T (p.His915Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003614834] Chr9:132897493 [GRCh38]
Chr9:135772880 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.106+16T>C single nucleotide variant Tuberous sclerosis 1 [RCV003615291] Chr9:132928751 [GRCh38]
Chr9:135804138 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1082C>G (p.Ser361Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003614872] Chr9:132911061 [GRCh38]
Chr9:135786448 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+9G>A single nucleotide variant Tuberous sclerosis 1 [RCV003614890] Chr9:132900706 [GRCh38]
Chr9:135776093 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1649A>T (p.Gln550Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614901] Chr9:132905929 [GRCh38]
Chr9:135781316 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2548_2554del (p.Arg850fs) deletion Tuberous sclerosis 1 [RCV003614910] Chr9:132900786..132900792 [GRCh38]
Chr9:135776173..135776179 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.364-15C>A single nucleotide variant Tuberous sclerosis 1 [RCV003615207] Chr9:132923507 [GRCh38]
Chr9:135798894 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.107-6A>G single nucleotide variant Tuberous sclerosis 1 [RCV003615390] Chr9:132927310 [GRCh38]
Chr9:135802697 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.113_114delinsAT (p.Gly38Asp) indel Tuberous sclerosis 1 [RCV003614945] Chr9:132927297..132927298 [GRCh38]
Chr9:135802684..135802685 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3174A>G (p.Pro1058=) single nucleotide variant Tuberous sclerosis 1 [RCV003614954] Chr9:132896556 [GRCh38]
Chr9:135771943 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1267G>A (p.Glu423Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003614962] Chr9:132907367 [GRCh38]
Chr9:135782754 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.931C>T (p.Pro311Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003615509] Chr9:132911551 [GRCh38]
Chr9:135786938 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2314del (p.Met771_Val772insTer) deletion Tuberous sclerosis 1 [RCV003614275] Chr9:132902682 [GRCh38]
Chr9:135778069 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2626-14_2626-4dup duplication Tuberous sclerosis 1 [RCV003614331] Chr9:132897613..132897614 [GRCh38]
Chr9:135773000..135773001 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.658G>A (p.Val220Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003615041] Chr9:132921824 [GRCh38]
Chr9:135797211 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1781T>C (p.Val594Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003614352] Chr9:132905797 [GRCh38]
Chr9:135781184 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-16A>T single nucleotide variant Tuberous sclerosis 1 [RCV003614396] Chr9:132921452 [GRCh38]
Chr9:135796839 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1330T>A (p.Ser444Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003614403] Chr9:132907304 [GRCh38]
Chr9:135782691 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3365G>A (p.Gly1122Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003614409] Chr9:132896365 [GRCh38]
Chr9:135771752 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1263+18T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614420] Chr9:132910553 [GRCh38]
Chr9:135785940 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+20T>A single nucleotide variant Tuberous sclerosis 1 [RCV003613576] Chr9:132897164 [GRCh38]
Chr9:135772551 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2041+7T>C single nucleotide variant Tuberous sclerosis 1 [RCV003615087] Chr9:132904404 [GRCh38]
Chr9:135779791 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+20C>A single nucleotide variant Tuberous sclerosis 1 [RCV003615094] Chr9:132903631 [GRCh38]
Chr9:135779018 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3351A>C (p.Leu1117=) single nucleotide variant Tuberous sclerosis 1 [RCV003613602] Chr9:132896379 [GRCh38]
Chr9:135771766 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.364-1G>A single nucleotide variant Tuberous sclerosis 1 [RCV003613830] Chr9:132923493 [GRCh38]
Chr9:135798880 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2503-14T>G single nucleotide variant Tuberous sclerosis 1 [RCV003613837] Chr9:132900851 [GRCh38]
Chr9:135776238 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2455A>G (p.Asn819Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003613862] Chr9:132901636 [GRCh38]
Chr9:135777023 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2625+10G>T single nucleotide variant Tuberous sclerosis 1 [RCV003613939] Chr9:132900705 [GRCh38]
Chr9:135776092 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2428C>G (p.Leu810Val) single nucleotide variant Tuberous sclerosis 1 [RCV003613967] Chr9:132901663 [GRCh38]
Chr9:135777050 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.607T>G (p.Leu203Val) single nucleotide variant Tuberous sclerosis 1 [RCV003614005] Chr9:132921875 [GRCh38]
Chr9:135797262 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2208+10G>A single nucleotide variant Tuberous sclerosis 1 [RCV003838284] Chr9:132903641 [GRCh38]
Chr9:135779028 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.913+2T>A single nucleotide variant Tuberous sclerosis 1 [RCV003614017] Chr9:132912280 [GRCh38]
Chr9:135787667 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1472C>G (p.Thr491Arg) single nucleotide variant TSC1-related condition [RCV003984402]|Tuberous sclerosis 1 [RCV003614415] Chr9:132906106 [GRCh38]
Chr9:135781493 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.752A>G (p.Glu251Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003614501] Chr9:132912443 [GRCh38]
Chr9:135787830 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.760G>A (p.Asp254Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003614521] Chr9:132912435 [GRCh38]
Chr9:135787822 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.211-12T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614528] Chr9:132925751 [GRCh38]
Chr9:135801138 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+7A>C single nucleotide variant Tuberous sclerosis 1 [RCV003614559] Chr9:132903644 [GRCh38]
Chr9:135779031 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.106+13_106+15del microsatellite Tuberous sclerosis 1 [RCV003613547] Chr9:132928752..132928754 [GRCh38]
Chr9:135804139..135804141 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.43del (p.Asp15fs) deletion Tuberous sclerosis 1 [RCV003614611] Chr9:132928830 [GRCh38]
Chr9:135804217 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1290A>T (p.Pro430=) single nucleotide variant Tuberous sclerosis 1 [RCV003614613] Chr9:132907344 [GRCh38]
Chr9:135782731 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.978_988del (p.Pro327fs) deletion Tuberous sclerosis 1 [RCV003614615] Chr9:132911494..132911504 [GRCh38]
Chr9:135786881..135786891 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1029+15A>G single nucleotide variant Tuberous sclerosis 1 [RCV003614715] Chr9:132911438 [GRCh38]
Chr9:135786825 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.296_297del (p.Leu99fs) deletion Tuberous sclerosis 1 [RCV003614721] Chr9:132925653..132925654 [GRCh38]
Chr9:135801040..135801041 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1141+15_1141+23del deletion Tuberous sclerosis 1 [RCV003614772] Chr9:132910979..132910987 [GRCh38]
Chr9:135786366..135786374 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2042-9T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614775] Chr9:132903826 [GRCh38]
Chr9:135779213 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2144G>C (p.Arg715Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003614801] Chr9:132903715 [GRCh38]
Chr9:135779102 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+18T>G single nucleotide variant Tuberous sclerosis 1 [RCV003614813] Chr9:132910984 [GRCh38]
Chr9:135786371 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2837G>C (p.Ser946Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003613595] Chr9:132897322 [GRCh38]
Chr9:135772709 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2461G>C (p.Val821Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614741] Chr9:132901630 [GRCh38]
Chr9:135777017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2506T>G (p.Ser836Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003614949] Chr9:132900834 [GRCh38]
Chr9:135776221 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.157A>G (p.Ser53Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003614967] Chr9:132927254 [GRCh38]
Chr9:135802641 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1786T>C (p.Phe596Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003613621] Chr9:132905792 [GRCh38]
Chr9:135781179 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1246G>T (p.Val416Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003613639] Chr9:132910588 [GRCh38]
Chr9:135785975 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2390A>G (p.Gln797Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003615072] Chr9:132902606 [GRCh38]
Chr9:135777993 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3035C>T (p.Ser1012Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003613661] Chr9:132896695 [GRCh38]
Chr9:135772082 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-12C>T single nucleotide variant Tuberous sclerosis 1 [RCV003839936] Chr9:132921448 [GRCh38]
Chr9:135796835 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+9T>C single nucleotide variant Tuberous sclerosis 1 [RCV003615199] Chr9:132906722 [GRCh38]
Chr9:135782109 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1325G>A (p.Arg442Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003615215] Chr9:132907309 [GRCh38]
Chr9:135782696 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1271G>A (p.Arg424Lys) single nucleotide variant Tuberous sclerosis 1 [RCV003615224] Chr9:132907363 [GRCh38]
Chr9:135782750 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.52A>T (p.Met18Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003615237] Chr9:132928821 [GRCh38]
Chr9:135804208 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2045C>T (p.Ser682Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003613687] Chr9:132903814 [GRCh38]
Chr9:135779201 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.638T>C (p.Leu213Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003615360] Chr9:132921844 [GRCh38]
Chr9:135797231 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.403G>T (p.Val135Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003613746] Chr9:132923453 [GRCh38]
Chr9:135798840 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107-12T>G single nucleotide variant Tuberous sclerosis 1 [RCV003613777] Chr9:132927316 [GRCh38]
Chr9:135802703 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1445T>C (p.Ile482Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003614016] Chr9:132906133 [GRCh38]
Chr9:135781520 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.497T>C (p.Leu166Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003614020] Chr9:132923359 [GRCh38]
Chr9:135798746 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3390G>T (p.Lys1130Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003613987] Chr9:132896340 [GRCh38]
Chr9:135771727 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1859T>C (p.Val620Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003614858] Chr9:132905719 [GRCh38]
Chr9:135781106 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1030-12T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614875] Chr9:132911125 [GRCh38]
Chr9:135786512 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2391+16C>A single nucleotide variant Tuberous sclerosis 1 [RCV003614892] Chr9:132902589 [GRCh38]
Chr9:135777976 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1912G>A (p.Asp638Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003614942] Chr9:132905666 [GRCh38]
Chr9:135781053 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3223C>A (p.Pro1075Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003854651] Chr9:132896507 [GRCh38]
Chr9:135771894 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+20C>T single nucleotide variant Tuberous sclerosis 1 [RCV003615145] Chr9:132912262 [GRCh38]
Chr9:135787649 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1119C>G (p.Tyr373Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003615393] Chr9:132911024 [GRCh38]
Chr9:135786411 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.273G>T (p.Ser91=) single nucleotide variant Tuberous sclerosis 1 [RCV003615415] Chr9:132925677 [GRCh38]
Chr9:135801064 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2813+9C>G single nucleotide variant Tuberous sclerosis 1 [RCV003615358] Chr9:132897414 [GRCh38]
Chr9:135772801 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2467C>G (p.His823Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003615476] Chr9:132901624 [GRCh38]
Chr9:135777011 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.509-17A>G single nucleotide variant Tuberous sclerosis 1 [RCV003850663] Chr9:132921990 [GRCh38]
Chr9:135797377 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2326C>A (p.His776Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003614297] Chr9:132902670 [GRCh38]
Chr9:135778057 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+7A>C single nucleotide variant Tuberous sclerosis 1 [RCV003614373] Chr9:132910995 [GRCh38]
Chr9:135786382 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1889A>C (p.Lys630Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003614418] Chr9:132905689 [GRCh38]
Chr9:135781076 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2042-15C>T single nucleotide variant Tuberous sclerosis 1 [RCV003614461] Chr9:132903832 [GRCh38]
Chr9:135779219 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3373T>A (p.Leu1125Met) single nucleotide variant Tuberous sclerosis 1 [RCV003614472] Chr9:132896357 [GRCh38]
Chr9:135771744 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.811T>C (p.Tyr271His) single nucleotide variant Tuberous sclerosis 1 [RCV003614506] Chr9:132912384 [GRCh38]
Chr9:135787771 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.59del (p.Gly20fs) deletion Tuberous sclerosis 1 [RCV003614532] Chr9:132928814 [GRCh38]
Chr9:135804201 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3269T>C (p.Met1090Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003614568] Chr9:132896461 [GRCh38]
Chr9:135771848 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3428C>G (p.Pro1143Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003614581] Chr9:132896302 [GRCh38]
Chr9:135771689 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2588del (p.Leu863fs) deletion Tuberous sclerosis 1 [RCV003613541] Chr9:132900752 [GRCh38]
Chr9:135776139 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1029+14T>G single nucleotide variant Tuberous sclerosis 1 [RCV003614617] Chr9:132911439 [GRCh38]
Chr9:135786826 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3160C>T (p.Gln1054Ter) single nucleotide variant Tuberous sclerosis 1 [RCV003614706] Chr9:132896570 [GRCh38]
Chr9:135771957 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2652T>C (p.Tyr884=) single nucleotide variant Tuberous sclerosis 1 [RCV003613590] Chr9:132897584 [GRCh38]
Chr9:135772971 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.480T>G (p.Arg160=) single nucleotide variant Tuberous sclerosis 1 [RCV003613600] Chr9:132923376 [GRCh38]
Chr9:135798763 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2344C>G (p.Leu782Val) single nucleotide variant Tuberous sclerosis 1 [RCV003614733] Chr9:132902652 [GRCh38]
Chr9:135778039 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2885T>C (p.Ile962Thr) single nucleotide variant Tuberous sclerosis 1 [RCV003614882] Chr9:132897274 [GRCh38]
Chr9:135772661 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2967A>T (p.Ala989=) single nucleotide variant Tuberous sclerosis 1 [RCV003614932] Chr9:132897192 [GRCh38]
Chr9:135772579 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.277_278inv (p.Leu93Arg) inversion Tuberous sclerosis 1 [RCV003614938] Chr9:132925672..132925673 [GRCh38]
Chr9:135801059..135801060 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.837C>A (p.His279Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003614987] Chr9:132912358 [GRCh38]
Chr9:135787745 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1526G>T (p.Arg509Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003613651] Chr9:132906052 [GRCh38]
Chr9:135781439 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.913+18T>C single nucleotide variant Tuberous sclerosis 1 [RCV003613654] Chr9:132912264 [GRCh38]
Chr9:135787651 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3404T>A (p.Leu1135Gln) single nucleotide variant Tuberous sclerosis 1 [RCV003613690] Chr9:132896326 [GRCh38]
Chr9:135771713 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1165G>A (p.Gly389Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003613698] Chr9:132910669 [GRCh38]
Chr9:135786056 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.185C>G (p.Thr62Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003615101] Chr9:132927226 [GRCh38]
Chr9:135802613 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1475C>T (p.Ala492Val) single nucleotide variant Tuberous sclerosis 1 [RCV003615124] Chr9:132906103 [GRCh38]
Chr9:135781490 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2503-14T>C single nucleotide variant Tuberous sclerosis 1 [RCV003613714] Chr9:132900851 [GRCh38]
Chr9:135776238 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1773G>C (p.Pro591=) single nucleotide variant Tuberous sclerosis 1 [RCV003615269] Chr9:132905805 [GRCh38]
Chr9:135781192 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.385C>A (p.Leu129Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003615305] Chr9:132923471 [GRCh38]
Chr9:135798858 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.19G>A (p.Val7Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003615306] Chr9:132928854 [GRCh38]
Chr9:135804241 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1311TCT[1] (p.Leu439del) microsatellite Tuberous sclerosis 1 [RCV003615308] Chr9:132907318..132907320 [GRCh38]
Chr9:135782705..135782707 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.31C>T (p.Leu11Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003615322] Chr9:132928842 [GRCh38]
Chr9:135804229 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1264-13C>A single nucleotide variant Tuberous sclerosis 1 [RCV003613800] Chr9:132907383 [GRCh38]
Chr9:135782770 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1006del (p.Arg336fs) deletion Tuberous sclerosis 1 [RCV003613807] Chr9:132911476 [GRCh38]
Chr9:135786863 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.3358_3359del (p.Glu1120fs) deletion Tuberous sclerosis 1 [RCV003613831] Chr9:132896371..132896372 [GRCh38]
Chr9:135771758..135771759 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.710C>A (p.Ser237Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003813759] Chr9:132921390 [GRCh38]
Chr9:135796777 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2208+18G>T single nucleotide variant Tuberous sclerosis 1 [RCV003614489] Chr9:132903633 [GRCh38]
Chr9:135779020 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2337C>T (p.Ile779=) single nucleotide variant Tuberous sclerosis 1 [RCV003614586] Chr9:132902659 [GRCh38]
Chr9:135778046 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2805C>T (p.Leu935=) single nucleotide variant Tuberous sclerosis 1 [RCV003613994] Chr9:132897431 [GRCh38]
Chr9:135772818 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.42G>C (p.Leu14=) single nucleotide variant Tuberous sclerosis 1 [RCV003614612] Chr9:132928831 [GRCh38]
Chr9:135804218 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2970A>C (p.Glu990Asp) single nucleotide variant Tuberous sclerosis 1 [RCV003614641] Chr9:132897189 [GRCh38]
Chr9:135772576 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2041+5A>C single nucleotide variant Tuberous sclerosis 1 [RCV003614728] Chr9:132904406 [GRCh38]
Chr9:135779793 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.434A>C (p.Gln145Pro) single nucleotide variant Tuberous sclerosis 1 [RCV003613689] Chr9:132923422 [GRCh38]
Chr9:135798809 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2618C>A (p.Thr873Asn) single nucleotide variant Tuberous sclerosis 1 [RCV003613707] Chr9:132900722 [GRCh38]
Chr9:135776109 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2461_2463del (p.Val821del) deletion Tuberous sclerosis 1 [RCV003613847] Chr9:132901628..132901630 [GRCh38]
Chr9:135777015..135777017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1998-8C>A single nucleotide variant Tuberous sclerosis 1 [RCV003613877] Chr9:132904462 [GRCh38]
Chr9:135779849 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2392-6_2398del deletion Tuberous sclerosis 1 [RCV003613886] Chr9:132901693..132901705 [GRCh38]
Chr9:135777080..135777092 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.3162G>A (p.Gln1054=) single nucleotide variant Tuberous sclerosis 1 [RCV003613895] Chr9:132896568 [GRCh38]
Chr9:135771955 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.43G>T (p.Asp15Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003613927] Chr9:132928830 [GRCh38]
Chr9:135804217 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1344del (p.Gly449fs) deletion Tuberous sclerosis 1 [RCV003613937] Chr9:132906825 [GRCh38]
Chr9:135782212 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-20T>C single nucleotide variant Tuberous sclerosis 1 [RCV003613941] Chr9:132927324 [GRCh38]
Chr9:135802711 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.238del (p.Val80fs) deletion Tuberous sclerosis 1 [RCV003613978] Chr9:132925712 [GRCh38]
Chr9:135801099 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2618C>T (p.Thr873Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003613556] Chr9:132900722 [GRCh38]
Chr9:135776109 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.664-11A>T single nucleotide variant Tuberous sclerosis 1 [RCV003614380] Chr9:132921447 [GRCh38]
Chr9:135796834 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.161C>G (p.Ser54Cys) single nucleotide variant Tuberous sclerosis 1 [RCV003614402] Chr9:132927250 [GRCh38]
Chr9:135802637 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1160C>T (p.Pro387Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614470] Chr9:132910674 [GRCh38]
Chr9:135786061 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1820T>A (p.Leu607His) single nucleotide variant Tuberous sclerosis 1 [RCV003613648] Chr9:132905758 [GRCh38]
Chr9:135781145 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.107-4T>A single nucleotide variant Tuberous sclerosis 1 [RCV003835296] Chr9:132927308 [GRCh38]
Chr9:135802695 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.239T>C (p.Val80Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003614411] Chr9:132925711 [GRCh38]
Chr9:135801098 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1518C>A (p.Pro506=) single nucleotide variant Tuberous sclerosis 1 [RCV003614563] Chr9:132906060 [GRCh38]
Chr9:135781447 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.558_559dup (p.Leu187fs) duplication Tuberous sclerosis 1 [RCV003614653] Chr9:132921922..132921923 [GRCh38]
Chr9:135797309..135797310 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1758T>G (p.Cys586Trp) single nucleotide variant Tuberous sclerosis 1 [RCV003614628] Chr9:132905820 [GRCh38]
Chr9:135781207 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1531A>G (p.Ser511Gly) single nucleotide variant Tuberous sclerosis 1 [RCV003613717] Chr9:132906047 [GRCh38]
Chr9:135781434 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2392-20G>A single nucleotide variant Tuberous sclerosis 1 [RCV003614518] Chr9:132901719 [GRCh38]
Chr9:135777106 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.532G>T (p.Val178Phe) single nucleotide variant Tuberous sclerosis 1 [RCV003614804] Chr9:132921950 [GRCh38]
Chr9:135797337 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1715G>C (p.Cys572Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003614735] Chr9:132905863 [GRCh38]
Chr9:135781250 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=) single nucleotide variant Tuberous sclerosis 1 [RCV003614734] Chr9:132896712 [GRCh38]
Chr9:135772099 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3239C>T (p.Ser1080Leu) single nucleotide variant Tuberous sclerosis 1 [RCV003614828] Chr9:132896491 [GRCh38]
Chr9:135771878 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.817_824del (p.Asp273fs) deletion Tuberous sclerosis 1 [RCV003614845] Chr9:132912371..132912378 [GRCh38]
Chr9:135787758..135787765 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2209-18A>G single nucleotide variant Tuberous sclerosis 1 [RCV003614956] Chr9:132902805 [GRCh38]
Chr9:135778192 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3186G>A (p.Arg1062=) single nucleotide variant Tuberous sclerosis 1 [RCV003850813] Chr9:132896544 [GRCh38]
Chr9:135771931 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3329C>T (p.Thr1110Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003613748] Chr9:132896401 [GRCh38]
Chr9:135771788 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1584C>G (p.Gly528=) single nucleotide variant Tuberous sclerosis 1 [RCV003613796] Chr9:132905994 [GRCh38]
Chr9:135781381 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.405G>A (p.Val135=) single nucleotide variant Tuberous sclerosis 1 [RCV003614643] Chr9:132923451 [GRCh38]
Chr9:135798838 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2954C>T (p.Ala985Val) single nucleotide variant Tuberous sclerosis 1 [RCV003614686] Chr9:132897205 [GRCh38]
Chr9:135772592 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1141+12_1141+13insG insertion Tuberous sclerosis 1 [RCV003614771] Chr9:132910989..132910990 [GRCh38]
Chr9:135786376..135786377 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2209-17T>C single nucleotide variant Tuberous sclerosis 1 [RCV003614995] Chr9:132902804 [GRCh38]
Chr9:135778191 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+14C>G single nucleotide variant Tuberous sclerosis 1 [RCV003615008] Chr9:132923334 [GRCh38]
Chr9:135798721 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2741C>A (p.Ser914Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003613823] Chr9:132897495 [GRCh38]
Chr9:135772882 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1601_1602del (p.Glu534fs) deletion Tuberous sclerosis 1 [RCV003613874] Chr9:132905976..132905977 [GRCh38]
Chr9:135781363..135781364 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2391+1G>T single nucleotide variant Tuberous sclerosis 1 [RCV003613875] Chr9:132902604 [GRCh38]
Chr9:135777991 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.47C>A (p.Ser16Tyr) single nucleotide variant Tuberous sclerosis 1 [RCV003614994] Chr9:132928826 [GRCh38]
Chr9:135804213 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2361G>A (p.Glu787=) single nucleotide variant Tuberous sclerosis 1 [RCV003615059] Chr9:132902635 [GRCh38]
Chr9:135778022 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.704C>T (p.Thr235Ile) single nucleotide variant Tuberous sclerosis 1 [RCV003615069] Chr9:132921396 [GRCh38]
Chr9:135796783 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1072C>T (p.Pro358Ser) single nucleotide variant Tuberous sclerosis 1 [RCV003615253] Chr9:132911071 [GRCh38]
Chr9:135786458 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2055A>G (p.Ser685=) single nucleotide variant Tuberous sclerosis 1 [RCV003615189] Chr9:132903804 [GRCh38]
Chr9:135779191 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.330A>C (p.Ala110=) single nucleotide variant Tuberous sclerosis 1 [RCV003832433] Chr9:132925620 [GRCh38]
Chr9:135801007 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+16G>A single nucleotide variant Tuberous sclerosis 1 [RCV003615421] Chr9:132903635 [GRCh38]
Chr9:135779022 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.522A>G (p.Glu174=) single nucleotide variant Tuberous sclerosis 1 [RCV003614270] Chr9:132921960 [GRCh38]
Chr9:135797347 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2844T>C (p.Tyr948=) single nucleotide variant Tuberous sclerosis 1 [RCV003614271] Chr9:132897315 [GRCh38]
Chr9:135772702 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2958_2959insCTCCCTCTCCCTCTCCCTCTCCCACGGCCGCGGGCACCCCCCGCACACCGCCACACACCCACCCAAACCCCCAACAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAAAGCAGAAGCAGCT (p.Glu987fs) insertion Tuberous sclerosis 1 [RCV003613565] Chr9:132897200..132897201 [GRCh38]
Chr9:135772587..135772588 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1429A>G (p.Lys477Glu) single nucleotide variant Tuberous sclerosis 1 [RCV003613601] Chr9:132906740 [GRCh38]
Chr9:135782127 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1610_1611del (p.His537fs) microsatellite Tuberous sclerosis 1 [RCV003613637] Chr9:132905967..132905968 [GRCh38]
Chr9:135781354..135781355 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1438+14G>C single nucleotide variant Tuberous sclerosis 1 [RCV003613674] Chr9:132906717 [GRCh38]
Chr9:135782104 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1817A>G (p.His606Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003859995] Chr9:132905761 [GRCh38]
Chr9:135781148 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3015A>G (p.Val1005=) single nucleotide variant Tuberous sclerosis 1 [RCV003819377] Chr9:132896715 [GRCh38]
Chr9:135772102 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1030-19T>C single nucleotide variant Tuberous sclerosis 1 [RCV003864158] Chr9:132911132 [GRCh38]
Chr9:135786519 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.636C>T (p.Asn212=) single nucleotide variant Tuberous sclerosis 1 [RCV003864171] Chr9:132921846 [GRCh38]
Chr9:135797233 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3100G>C (p.Gly1034Arg) single nucleotide variant Tuberous sclerosis 1 [RCV003863264] Chr9:132896630 [GRCh38]
Chr9:135772017 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.3126C>T (p.Ser1042=) single nucleotide variant Tuberous sclerosis 1 [RCV003821245] Chr9:132896604 [GRCh38]
Chr9:135771991 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1438+14G>A single nucleotide variant Tuberous sclerosis 1 [RCV003856999] Chr9:132906717 [GRCh38]
Chr9:135782104 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.508+9C>T single nucleotide variant Tuberous sclerosis 1 [RCV003863716] Chr9:132923339 [GRCh38]
Chr9:135798726 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.663+13T>C single nucleotide variant Tuberous sclerosis 1 [RCV003841890] Chr9:132921806 [GRCh38]
Chr9:135797193 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3229A>G (p.Thr1077Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003845158] Chr9:132896501 [GRCh38]
Chr9:135771888 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2502+11del deletion Tuberous sclerosis 1 [RCV003868165] Chr9:132901578 [GRCh38]
Chr9:135776965 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2208+15G>A single nucleotide variant Tuberous sclerosis 1 [RCV003867505] Chr9:132903636 [GRCh38]
Chr9:135779023 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2278_2291del (p.Arg760fs) deletion not provided [RCV003736515] Chr9:132902705..132902718 [GRCh38]
Chr9:135778092..135778105 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.107-16C>T single nucleotide variant Tuberous sclerosis 1 [RCV003872184] Chr9:132927320 [GRCh38]
Chr9:135802707 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.480T>A (p.Arg160=) single nucleotide variant Tuberous sclerosis 1 [RCV003866959] Chr9:132923376 [GRCh38]
Chr9:135798763 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2187G>A (p.Leu729=) single nucleotide variant Tuberous sclerosis 1 [RCV003870850] Chr9:132903672 [GRCh38]
Chr9:135779059 [GRCh37]
Chr9:9q34.13		 benign
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs) deletion Tuberous sclerosis 1 [RCV003986014] Chr9:132902716..132902725 [GRCh38]
Chr9:135778103..135778112 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.1940A>T (p.Glu647Val) single nucleotide variant Tuberous sclerosis 1 [RCV003861479] Chr9:132905638 [GRCh38]
Chr9:135781025 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2556G>A (p.Leu852=) single nucleotide variant Tuberous sclerosis 1 [RCV003871660] Chr9:132900784 [GRCh38]
Chr9:135776171 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1800G>A (p.Gln600=) single nucleotide variant Tuberous sclerosis 1 [RCV003858728] Chr9:132905778 [GRCh38]
Chr9:135781165 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2975+12_2975+13del deletion Tuberous sclerosis 1 [RCV003820293] Chr9:132897171..132897172 [GRCh38]
Chr9:135772558..135772559 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1548G>A (p.Gln516=) single nucleotide variant Tuberous sclerosis 1 [RCV003847517] Chr9:132906030 [GRCh38]
Chr9:135781417 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2074del (p.Arg692fs) deletion not provided [RCV003736427] Chr9:132903785 [GRCh38]
Chr9:135779172 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2814-7C>G single nucleotide variant Tuberous sclerosis 1 [RCV003844549] Chr9:132897352 [GRCh38]
Chr9:135772739 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.364-16A>G single nucleotide variant Tuberous sclerosis 1 [RCV003841901] Chr9:132923508 [GRCh38]
Chr9:135798895 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2317A>G (p.Thr773Ala) single nucleotide variant Tuberous sclerosis 1 [RCV003861447] Chr9:132902679 [GRCh38]
Chr9:135778066 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.936C>T (p.Tyr312=) single nucleotide variant Tuberous sclerosis 1 [RCV003819698] Chr9:132911546 [GRCh38]
Chr9:135786933 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3199_3211delinsGCCAGCATCCCCACCACTGTGGG (p.Met1067fs) indel not provided [RCV003887780] Chr9:132896519..132896531 [GRCh38]
Chr9:135771906..135771918 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.1574_1584delinsTTTCCAAGGG (p.Ser525fs) indel TSC1-related condition [RCV003982620] Chr9:132905994..132906004 [GRCh38]
Chr9:135781381..135781391 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.182del (p.Leu61fs) deletion Tuberous sclerosis 1 [RCV003985215] Chr9:132927229 [GRCh38]
Chr9:135802616 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2626-3_2626-2insTTA insertion TSC1-related condition [RCV003981639] Chr9:132897612..132897613 [GRCh38]
Chr9:135772999..135773000 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1527dup (p.Asp510fs) duplication TSC1-related condition [RCV003911593] Chr9:132906050..132906051 [GRCh38]
Chr9:135781437..135781438 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.1578T>C (p.Ser526=) single nucleotide variant TSC1-related condition [RCV003947010] Chr9:132906000 [GRCh38]
Chr9:135781387 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2626-9_2626-4del deletion TSC1-related condition [RCV003959534] Chr9:132897614..132897619 [GRCh38]
Chr9:135773001..135773006 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.2282dup (p.Tyr761Ter) duplication TSC1-related condition [RCV003894472] Chr9:132902713..132902714 [GRCh38]
Chr9:135778100..135778101 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2626-24G>A single nucleotide variant TSC1-related condition [RCV003969133] Chr9:132897634 [GRCh38]
Chr9:135773021 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.1002G>T (p.Ser334=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379966] Chr9:132911480 [GRCh38]
Chr9:135786867 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.707G>C (p.Gly236Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379473] Chr9:132921393 [GRCh38]
Chr9:135796780 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379956] Chr9:132923348 [GRCh38]
Chr9:135798735 [GRCh37]
Chr9:9q34.13		 likely pathogenic
NM_000368.5(TSC1):c.2688C>T (p.Leu896=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379968] Chr9:132897548 [GRCh38]
Chr9:135772935 [GRCh37]
Chr9:9q34.13		 likely benign
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003361416] Chr9:132896575 [GRCh38]
Chr9:135771962 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.2453del (p.Asn818fs) deletion Tuberous sclerosis 1 [RCV003334725] Chr9:132901638 [GRCh38]
Chr9:135777025 [GRCh37]
Chr9:9q34.13		 pathogenic
NM_000368.5(TSC1):c.2009C>A (p.Pro670His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379970]|Tuberous sclerosis 1 [RCV003778127] Chr9:132904443 [GRCh38]
Chr9:135779830 [GRCh37]
Chr9:9q34.13		 uncertain significance
NM_000368.5(TSC1):c.389C>A (p.Thr130Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003379542] Chr9:132923467 [GRCh38]
Chr9:135798854 [GRCh37]
Chr9:9q34.13		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR32hsa-miR-32-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22431589

Predicted Target Of
Summary Value
Count of predictions:6953
Count of miRNA genes:1194
Interacting mature miRNAs:1511
Transcripts:ENST00000298552, ENST00000403810, ENST00000440111, ENST00000461879, ENST00000475903, ENST00000490179, ENST00000493467, ENST00000545250
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH98742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,785,244 - 135,785,339UniSTSGRCh37
Build 369134,775,065 - 134,775,160RGDNCBI36
Celera9106,326,984 - 106,327,079RGD
Cytogenetic Map9q34UniSTS
HuRef9105,279,168 - 105,279,263UniSTS
GeneMap99-GB4 RH Map9410.89UniSTS
SHGC-144586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,786,830 - 135,787,133UniSTSGRCh37
Build 369134,776,651 - 134,776,954RGDNCBI36
Celera9106,328,570 - 106,328,872RGD
Cytogenetic Map9q34UniSTS
HuRef9105,280,754 - 105,281,056UniSTS
TNG Radiation Hybrid Map951614.0UniSTS
PMC18172P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,796,754 - 135,797,304UniSTSGRCh37
GRCh379135,796,754 - 135,797,303UniSTSGRCh37
Build 369134,786,575 - 134,787,124RGDNCBI36
Celera9106,338,493 - 106,339,043UniSTS
Celera9106,338,493 - 106,339,042RGD
Cytogenetic Map9q34UniSTS
HuRef9105,290,442 - 105,290,992UniSTS
HuRef9105,290,443 - 105,290,992UniSTS
STS-H11389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,766,781 - 135,767,022UniSTSGRCh37
Build 369134,756,602 - 134,756,843RGDNCBI36
Celera9106,308,519 - 106,308,760RGD
Cytogenetic Map9q34UniSTS
HuRef9105,260,704 - 105,260,945UniSTS
GeneMap99-GB4 RH Map9410.79UniSTS
RH35815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,766,781 - 135,766,943UniSTSGRCh37
Build 369134,756,602 - 134,756,764RGDNCBI36
Celera9106,308,519 - 106,308,681RGD
Cytogenetic Map9q34UniSTS
HuRef9105,260,704 - 105,260,866UniSTS
GeneMap99-GB4 RH Map9410.59UniSTS
TSC1__5147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,766,732 - 135,767,360UniSTSGRCh37
Build 369134,756,553 - 134,757,181RGDNCBI36
Celera9106,308,470 - 106,309,098RGD
HuRef9105,260,655 - 105,261,283UniSTS
STS-D87683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,771,352 - 135,771,593UniSTSGRCh37
Build 369134,761,173 - 134,761,414RGDNCBI36
Celera9106,313,090 - 106,313,331RGD
Cytogenetic Map9q34UniSTS
HuRef9105,265,274 - 105,265,515UniSTS
GeneMap99-GB4 RH Map9409.35UniSTS
D9S1916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,771,964 - 135,772,107UniSTSGRCh37
Build 369134,761,785 - 134,761,928RGDNCBI36
Celera9106,313,702 - 106,313,845RGD
Cytogenetic Map9q34UniSTS
HuRef9105,265,886 - 105,266,029UniSTS
Whitehead-YAC Contig Map9 UniSTS
D9S2005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379135,804,865 - 135,804,967UniSTSGRCh37
Build 369134,794,686 - 134,794,788RGDNCBI36
Celera9106,346,606 - 106,346,708RGD
Cytogenetic Map9q34UniSTS
HuRef9105,298,555 - 105,298,657UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2238 1559 1325 236 960 95 3889 1451 2974 254 1369 1503 157 1 1079 2368 4 2
Low 201 1430 400 387 989 369 468 746 760 165 91 110 18 125 420 2
Below cutoff 2 1 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA215977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB190910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF013168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF234185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF251792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF323440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF680930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY922727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY922728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC224280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC224281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N63914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000298552   ⟹   ENSP00000298552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000403810   ⟹   ENSP00000386093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,910,999 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000440111   ⟹   ENSP00000394524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,350 - 132,928,955 (-)Ensembl
RefSeq Acc Id: ENST00000461879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,921,819 - 132,923,684 (-)Ensembl
RefSeq Acc Id: ENST00000475903   ⟹   ENSP00000496126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,619 (-)Ensembl
RefSeq Acc Id: ENST00000490179   ⟹   ENSP00000495533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,612 (-)Ensembl
RefSeq Acc Id: ENST00000493467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,909,807 - 132,912,468 (-)Ensembl
RefSeq Acc Id: ENST00000545250   ⟹   ENSP00000444017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,350 - 132,928,955 (-)Ensembl
RefSeq Acc Id: ENST00000642249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,939,071 - 132,944,834 (-)Ensembl
RefSeq Acc Id: ENST00000642261   ⟹   ENSP00000494743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000642344   ⟹   ENSP00000494847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,906,751 - 132,944,572 (-)Ensembl
RefSeq Acc Id: ENST00000642617   ⟹   ENSP00000493773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,895,912 - 132,944,623 (-)Ensembl
RefSeq Acc Id: ENST00000642627   ⟹   ENSP00000496772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,353 - 132,944,619 (-)Ensembl
RefSeq Acc Id: ENST00000642646   ⟹   ENSP00000496292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,909,807 - 132,944,627 (-)Ensembl
RefSeq Acc Id: ENST00000642745   ⟹   ENSP00000493963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,909,752 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000642811   ⟹   ENSP00000495554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,895,078 - 132,944,619 (-)Ensembl
RefSeq Acc Id: ENST00000642854   ⟹   ENSP00000494639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,911,291 - 132,944,694 (-)Ensembl
RefSeq Acc Id: ENST00000643072   ⟹   ENSP00000496691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,896,198 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000643275   ⟹   ENSP00000495598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000643362   ⟹   ENSP00000496398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,946,874 (-)Ensembl
RefSeq Acc Id: ENST00000643583   ⟹   ENSP00000494685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,895,978 - 132,944,615 (-)Ensembl
RefSeq Acc Id: ENST00000643625   ⟹   ENSP00000495546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,348 - 132,944,595 (-)Ensembl
RefSeq Acc Id: ENST00000643691   ⟹   ENSP00000494916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000643875   ⟹   ENSP00000495158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,893,353 - 132,944,617 (-)Ensembl
RefSeq Acc Id: ENST00000644097   ⟹   ENSP00000494682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,353 - 132,944,769 (-)Ensembl
RefSeq Acc Id: ENST00000644184   ⟹   ENSP00000495428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,353 - 132,944,623 (-)Ensembl
RefSeq Acc Id: ENST00000644255   ⟹   ENSP00000493608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,896,088 - 132,944,626 (-)Ensembl
RefSeq Acc Id: ENST00000644319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,895,999 - 132,912,921 (-)Ensembl
RefSeq Acc Id: ENST00000644786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,392 - 132,901,958 (-)Ensembl
RefSeq Acc Id: ENST00000644882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,375 - 132,906,532 (-)Ensembl
RefSeq Acc Id: ENST00000644997   ⟹   ENSP00000495654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,910,571 - 132,944,572 (-)Ensembl
RefSeq Acc Id: ENST00000645129   ⟹   ENSP00000493639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000645150   ⟹   ENSP00000494365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,909,807 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000645346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,941,396 - 132,944,553 (-)Ensembl
RefSeq Acc Id: ENST00000645901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,894,849 - 132,944,631 (-)Ensembl
RefSeq Acc Id: ENST00000645904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,921,941 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000646391   ⟹   ENSP00000494104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,896,167 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000646440   ⟹   ENSP00000495830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,349 - 132,945,375 (-)Ensembl
RefSeq Acc Id: ENST00000646625   ⟹   ENSP00000496263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,353 - 132,944,633 (-)Ensembl
RefSeq Acc Id: ENST00000646788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,939,071 - 132,944,558 (-)Ensembl
RefSeq Acc Id: ENST00000646831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,940,735 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000647078   ⟹   ENSP00000496066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,910,261 - 132,944,627 (-)Ensembl
RefSeq Acc Id: ENST00000647262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,894,778 - 132,906,542 (-)Ensembl
RefSeq Acc Id: ENST00000647279   ⟹   ENSP00000494502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,895,912 - 132,944,608 (-)Ensembl
RefSeq Acc Id: ENST00000647462   ⟹   ENSP00000495821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,910,261 - 132,944,616 (-)Ensembl
RefSeq Acc Id: ENST00000647506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,898,980 - 132,944,627 (-)Ensembl
RefSeq Acc Id: ENST00000647534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9132,891,390 - 132,911,206 (-)Ensembl
RefSeq Acc Id: NM_000368   ⟹   NP_000359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
GRCh379135,766,735 - 135,820,094 (-)NCBI
Build 369134,756,557 - 134,809,841 (-)NCBI Archive
HuRef9105,260,658 - 105,313,711 (-)ENTREZGENE
CHM1_19135,917,213 - 135,970,447 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001162426   ⟹   NP_001155898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
GRCh379135,766,735 - 135,820,094 (-)NCBI
HuRef9105,260,658 - 105,313,711 (-)ENTREZGENE
CHM1_19135,917,213 - 135,970,447 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001162427   ⟹   NP_001155899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
GRCh379135,766,735 - 135,820,094 (-)NCBI
HuRef9105,260,658 - 105,313,711 (-)ENTREZGENE
CHM1_19135,917,213 - 135,970,447 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362177   ⟹   NP_001349106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001406592   ⟹   NP_001393521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406593   ⟹   NP_001393522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406594   ⟹   NP_001393523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406595   ⟹   NP_001393524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406596   ⟹   NP_001393525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406597   ⟹   NP_001393526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406598   ⟹   NP_001393527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406599   ⟹   NP_001393528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406600   ⟹   NP_001393529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406601   ⟹   NP_001393530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406602   ⟹   NP_001393531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406603   ⟹   NP_001393532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406604   ⟹   NP_001393533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406605   ⟹   NP_001393534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406606   ⟹   NP_001393535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406607   ⟹   NP_001393536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406608   ⟹   NP_001393537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406609   ⟹   NP_001393538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406610   ⟹   NP_001393539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406611   ⟹   NP_001393540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406612   ⟹   NP_001393541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406613   ⟹   NP_001393542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406614   ⟹   NP_001393543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406615   ⟹   NP_001393544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406616   ⟹   NP_001393545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406617   ⟹   NP_001393546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406618   ⟹   NP_001393547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406619   ⟹   NP_001393548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406620   ⟹   NP_001393549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406621   ⟹   NP_001393550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406622   ⟹   NP_001393551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406623   ⟹   NP_001393552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406624   ⟹   NP_001393553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406625   ⟹   NP_001393554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406626   ⟹   NP_001393555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406627   ⟹   NP_001393556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406628   ⟹   NP_001393557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406629   ⟹   NP_001393558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NM_001406630   ⟹   NP_001393559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NR_176214
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NR_176215
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NR_176216
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NR_176217
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: NR_176218
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,944,616 (-)NCBI
T2T-CHM13v2.09145,103,162 - 145,156,431 (-)NCBI
RefSeq Acc Id: XM_011518979   ⟹   XP_011517281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,891,349 - 132,945,378 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054363718   ⟹   XP_054219693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09145,103,162 - 145,157,190 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155898 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155899 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349106 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393521 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393523 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393524 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393526 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393527 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393528 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393530 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393531 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393541 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393542 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393544 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393545 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393546 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393547 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393548 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393551 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393552 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393554 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393557 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393558 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393559 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517281 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219693 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51674 (Get FASTA)   NCBI Sequence Viewer  
  AAF61948 (Get FASTA)   NCBI Sequence Viewer  
  AAG02406 (Get FASTA)   NCBI Sequence Viewer  
  AAH47772 (Get FASTA)   NCBI Sequence Viewer  
  AAH70032 (Get FASTA)   NCBI Sequence Viewer  
  AAI08669 (Get FASTA)   NCBI Sequence Viewer  
  AAI21001 (Get FASTA)   NCBI Sequence Viewer  
  AAK12099 (Get FASTA)   NCBI Sequence Viewer  
  AAK60414 (Get FASTA)   NCBI Sequence Viewer  
  AAK60415 (Get FASTA)   NCBI Sequence Viewer  
  AAK60416 (Get FASTA)   NCBI Sequence Viewer  
  ABS18758 (Get FASTA)   NCBI Sequence Viewer  
  AHW56593 (Get FASTA)   NCBI Sequence Viewer  
  AWN00468 (Get FASTA)   NCBI Sequence Viewer  
  AWN00469 (Get FASTA)   NCBI Sequence Viewer  
  BAA13436 (Get FASTA)   NCBI Sequence Viewer  
  BAD91314 (Get FASTA)   NCBI Sequence Viewer  
  BAH12548 (Get FASTA)   NCBI Sequence Viewer  
  BAH13090 (Get FASTA)   NCBI Sequence Viewer  
  BAH13883 (Get FASTA)   NCBI Sequence Viewer  
  BAX02960 (Get FASTA)   NCBI Sequence Viewer  
  BAX02961 (Get FASTA)   NCBI Sequence Viewer  
  EAW88021 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000298552
  ENSP00000298552.3
  ENSP00000386093.1
  ENSP00000394524
  ENSP00000394524.2
  ENSP00000444017
  ENSP00000444017.1
  ENSP00000493608.1
  ENSP00000493639
  ENSP00000493639.2
  ENSP00000493773
  ENSP00000493773.1
  ENSP00000493963.1
  ENSP00000494104.1
  ENSP00000494365.1
  ENSP00000494502.1
  ENSP00000494639.1
  ENSP00000494682
  ENSP00000494682.1
  ENSP00000494685
  ENSP00000494685.1
  ENSP00000494743.2
  ENSP00000494847.1
  ENSP00000494916
  ENSP00000494916.2
  ENSP00000495158
  ENSP00000495158.1
  ENSP00000495428
  ENSP00000495428.2
  ENSP00000495533
  ENSP00000495533.1
  ENSP00000495533.2
  ENSP00000495546.2
  ENSP00000495554.1
  ENSP00000495598.2
  ENSP00000495654.1
  ENSP00000495821.1
  ENSP00000495830
  ENSP00000495830.1
  ENSP00000495830.2
  ENSP00000496066.1
  ENSP00000496126.2
  ENSP00000496263
  ENSP00000496263.1
  ENSP00000496292.1
  ENSP00000496398.2
  ENSP00000496691
  ENSP00000496691.1
  ENSP00000496772
  ENSP00000496772.1
GenBank Protein Q92574 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001155899   ⟸   NM_001162427
- Peptide Label: isoform 4
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001155898   ⟸   NM_001162426
- Peptide Label: isoform 3
- UniProtKB: A0A2R8YGL0 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL),   A0A2R8Y5S3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000359   ⟸   NM_000368
- Peptide Label: isoform 1
- UniProtKB: B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   Q92574 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517281   ⟸   XM_011518979
- Peptide Label: isoform X1
- UniProtKB: B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   Q92574 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349106   ⟸   NM_001362177
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000495533   ⟸   ENST00000490179
RefSeq Acc Id: ENSP00000444017   ⟸   ENST00000545250
RefSeq Acc Id: ENSP00000394524   ⟸   ENST00000440111
RefSeq Acc Id: ENSP00000298552   ⟸   ENST00000298552
RefSeq Acc Id: ENSP00000386093   ⟸   ENST00000403810
RefSeq Acc Id: ENSP00000494847   ⟸   ENST00000642344
RefSeq Acc Id: ENSP00000494743   ⟸   ENST00000642261
RefSeq Acc Id: ENSP00000494639   ⟸   ENST00000642854
RefSeq Acc Id: ENSP00000495554   ⟸   ENST00000642811
RefSeq Acc Id: ENSP00000493963   ⟸   ENST00000642745
RefSeq Acc Id: ENSP00000496772   ⟸   ENST00000642627
RefSeq Acc Id: ENSP00000493773   ⟸   ENST00000642617
RefSeq Acc Id: ENSP00000496292   ⟸   ENST00000642646
RefSeq Acc Id: ENSP00000496398   ⟸   ENST00000643362
RefSeq Acc Id: ENSP00000495598   ⟸   ENST00000643275
RefSeq Acc Id: ENSP00000496691   ⟸   ENST00000643072
RefSeq Acc Id: ENSP00000495546   ⟸   ENST00000643625
RefSeq Acc Id: ENSP00000494916   ⟸   ENST00000643691
RefSeq Acc Id: ENSP00000494685   ⟸   ENST00000643583
RefSeq Acc Id: ENSP00000495158   ⟸   ENST00000643875
RefSeq Acc Id: ENSP00000495654   ⟸   ENST00000644997
RefSeq Acc Id: ENSP00000493608   ⟸   ENST00000644255
RefSeq Acc Id: ENSP00000495428   ⟸   ENST00000644184
RefSeq Acc Id: ENSP00000494682   ⟸   ENST00000644097
RefSeq Acc Id: ENSP00000493639   ⟸   ENST00000645129
RefSeq Acc Id: ENSP00000494365   ⟸   ENST00000645150
RefSeq Acc Id: ENSP00000495830   ⟸   ENST00000646440
RefSeq Acc Id: ENSP00000494104   ⟸   ENST00000646391
RefSeq Acc Id: ENSP00000496263   ⟸   ENST00000646625
RefSeq Acc Id: ENSP00000494502   ⟸   ENST00000647279
RefSeq Acc Id: ENSP00000496066   ⟸   ENST00000647078
RefSeq Acc Id: ENSP00000496126   ⟸   ENST00000475903
RefSeq Acc Id: ENSP00000495821   ⟸   ENST00000647462
RefSeq Acc Id: NP_001393549   ⟸   NM_001406620
- Peptide Label: isoform 11
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393547   ⟸   NM_001406618
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393554   ⟸   NM_001406625
- Peptide Label: isoform 13
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393550   ⟸   NM_001406621
- Peptide Label: isoform 11
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393546   ⟸   NM_001406617
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393542   ⟸   NM_001406613
- Peptide Label: isoform 10
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393541   ⟸   NM_001406612
- Peptide Label: isoform 9
- UniProtKB: A0A2R8YD74 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393539   ⟸   NM_001406610
- Peptide Label: isoform 4
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393556   ⟸   NM_001406627
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001393558   ⟸   NM_001406629
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001393532   ⟸   NM_001406603
- Peptide Label: isoform 6
- UniProtKB: A0A2R8YFV7 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393538   ⟸   NM_001406609
- Peptide Label: isoform 8
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393526   ⟸   NM_001406597
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y5S3 (UniProtKB/TrEMBL),   A0A2R8YGL0 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393531   ⟸   NM_001406602
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5N2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393535   ⟸   NM_001406606
- Peptide Label: isoform 7
- UniProtKB: A0A2R8Y6S1 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393521   ⟸   NM_001406592
- Peptide Label: isoform 1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393529   ⟸   NM_001406600
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y5S3 (UniProtKB/TrEMBL),   A0A2R8YGL0 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393524   ⟸   NM_001406595
- Peptide Label: isoform 1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393548   ⟸   NM_001406619
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393527   ⟸   NM_001406598
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y5S3 (UniProtKB/TrEMBL),   A0A2R8YGL0 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393536   ⟸   NM_001406607
- Peptide Label: isoform 7
- UniProtKB: A0A2R8Y6S1 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393522   ⟸   NM_001406593
- Peptide Label: isoform 1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393525   ⟸   NM_001406596
- Peptide Label: isoform 1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393551   ⟸   NM_001406622
- Peptide Label: isoform 11
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393543   ⟸   NM_001406614
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393540   ⟸   NM_001406611
- Peptide Label: isoform 9
- UniProtKB: A0A2R8YD74 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393557   ⟸   NM_001406628
- Peptide Label: isoform 15
RefSeq Acc Id: NP_001393555   ⟸   NM_001406626
- Peptide Label: isoform 14
RefSeq Acc Id: NP_001393533   ⟸   NM_001406604
- Peptide Label: isoform 6
- UniProtKB: A0A2R8YFV7 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393537   ⟸   NM_001406608
- Peptide Label: isoform 8
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393530   ⟸   NM_001406601
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5N2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393534   ⟸   NM_001406605
- Peptide Label: isoform 7
- UniProtKB: A0A2R8Y6S1 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393559   ⟸   NM_001406630
- Peptide Label: isoform 16
RefSeq Acc Id: NP_001393553   ⟸   NM_001406624
- Peptide Label: isoform 12
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393545   ⟸   NM_001406616
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393552   ⟸   NM_001406623
- Peptide Label: isoform 11
- UniProtKB: A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393544   ⟸   NM_001406615
- Peptide Label: isoform 5
- UniProtKB: A0A2R8Y5M3 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393528   ⟸   NM_001406599
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y5S3 (UniProtKB/TrEMBL),   A0A2R8YGL0 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393523   ⟸   NM_001406594
- Peptide Label: isoform 1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   X5D9D2 (UniProtKB/TrEMBL),   A0A2R8YGX7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219693   ⟸   XM_054363718
- Peptide Label: isoform X1
- UniProtKB: Q92574 (UniProtKB/Swiss-Prot),   B7Z897 (UniProtKB/Swiss-Prot),   Q5VVN5 (UniProtKB/Swiss-Prot),   A0A2R8YGX7 (UniProtKB/TrEMBL),   X5D9D2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92574-F1-model_v2 AlphaFold Q92574 1-1164 view protein structure

Promoters
RGD ID:7216481
Promoter ID:EPDNEW_H13987
Type:initiation region
Name:TSC1_1
Description:tuberous sclerosis 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389132,944,616 - 132,944,676EPDNEW
RGD ID:6808333
Promoter ID:HG_KWN:65406
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000368,   NM_001162426,   NM_001162427,   OTTHUMT00000054800,   OTTHUMT00000054803,   UC004CCC.1,   UC004CCD.1,   UC004CCE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369134,809,716 - 134,810,647 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12362 AgrOrtholog
COSMIC TSC1 COSMIC
Ensembl Genes ENSG00000165699 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000298552 ENTREZGENE
  ENST00000298552.9 UniProtKB/Swiss-Prot
  ENST00000403810.6 UniProtKB/TrEMBL
  ENST00000440111 ENTREZGENE
  ENST00000440111.6 UniProtKB/Swiss-Prot
  ENST00000475903.7 UniProtKB/TrEMBL
  ENST00000490179 ENTREZGENE
  ENST00000490179.3 UniProtKB/TrEMBL
  ENST00000490179.4 UniProtKB/Swiss-Prot
  ENST00000545250 ENTREZGENE
  ENST00000545250.5 UniProtKB/Swiss-Prot
  ENST00000642261 ENTREZGENE
  ENST00000642261.2 UniProtKB/TrEMBL
  ENST00000642344.1 UniProtKB/TrEMBL
  ENST00000642617 ENTREZGENE
  ENST00000642617.1 UniProtKB/TrEMBL
  ENST00000642627 ENTREZGENE
  ENST00000642627.1 UniProtKB/TrEMBL
  ENST00000642646.1 UniProtKB/TrEMBL
  ENST00000642745.1 UniProtKB/TrEMBL
  ENST00000642811.1 UniProtKB/TrEMBL
  ENST00000642854.1 UniProtKB/TrEMBL
  ENST00000643072 ENTREZGENE
  ENST00000643072.1 UniProtKB/Swiss-Prot
  ENST00000643275.2 UniProtKB/TrEMBL
  ENST00000643362.2 UniProtKB/TrEMBL
  ENST00000643583 ENTREZGENE
  ENST00000643583.1 UniProtKB/TrEMBL
  ENST00000643625 ENTREZGENE
  ENST00000643625.2 UniProtKB/TrEMBL
  ENST00000643691 ENTREZGENE
  ENST00000643691.2 UniProtKB/TrEMBL
  ENST00000643875 ENTREZGENE
  ENST00000643875.1 UniProtKB/Swiss-Prot
  ENST00000644097 ENTREZGENE
  ENST00000644097.1 UniProtKB/TrEMBL
  ENST00000644184 ENTREZGENE
  ENST00000644184.2 UniProtKB/TrEMBL
  ENST00000644255.1 UniProtKB/TrEMBL
  ENST00000644997.1 UniProtKB/TrEMBL
  ENST00000645129 ENTREZGENE
  ENST00000645129.2 UniProtKB/TrEMBL
  ENST00000645150.1 UniProtKB/TrEMBL
  ENST00000646391.1 UniProtKB/TrEMBL
  ENST00000646440 ENTREZGENE
  ENST00000646440.1 UniProtKB/TrEMBL
  ENST00000646440.2 UniProtKB/Swiss-Prot
  ENST00000646625 ENTREZGENE
  ENST00000646625.1 UniProtKB/Swiss-Prot
  ENST00000647078.2 UniProtKB/TrEMBL
  ENST00000647279.1 UniProtKB/TrEMBL
  ENST00000647462.1 UniProtKB/TrEMBL
GTEx ENSG00000165699 GTEx
HGNC ID HGNC:12362 ENTREZGENE
Human Proteome Map TSC1 Human Proteome Map
InterPro ARM-type_fold UniProtKB/TrEMBL
  Hamartin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7248 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7248 ENTREZGENE
OMIM 605284 OMIM
PANTHER HAMARTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15154 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hamartin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37034 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/TrEMBL
UniProt A0A1V1FGH6_HUMAN UniProtKB/TrEMBL
  A0A1V1FM02_HUMAN UniProtKB/TrEMBL
  A0A2R8Y419_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5F8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5J1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5M3 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5N2 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5Q4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5S3 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y5U8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6N1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6S1 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y6S8_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6T5_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6W1_HUMAN UniProtKB/TrEMBL
  A0A2R8Y756_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7E9_HUMAN UniProtKB/TrEMBL
  A0A2R8YD74 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YEH9_HUMAN UniProtKB/TrEMBL
  A0A2R8YFV7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YGL0 ENTREZGENE
  A0A2R8YGX7 ENTREZGENE, UniProtKB/TrEMBL
  A0A2Z3J316_HUMAN UniProtKB/TrEMBL
  A0A2Z3J3Z0_HUMAN UniProtKB/TrEMBL
  A7L806_HUMAN UniProtKB/TrEMBL
  B7Z897 ENTREZGENE
  Q0VAM5_HUMAN UniProtKB/TrEMBL
  Q32NF0_HUMAN UniProtKB/TrEMBL
  Q59IT9_HUMAN UniProtKB/TrEMBL
  Q5VVN5 ENTREZGENE
  Q86WV8_HUMAN UniProtKB/TrEMBL
  Q92574 ENTREZGENE
  Q96RT3_HUMAN UniProtKB/TrEMBL
  Q96RT4_HUMAN UniProtKB/TrEMBL
  Q96RT5_HUMAN UniProtKB/TrEMBL
  TSC1_HUMAN UniProtKB/Swiss-Prot
  X5D9D2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A2R8YGL0 UniProtKB/TrEMBL
  B7Z897 UniProtKB/Swiss-Prot
  Q5VVN5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-04 TSC1  TSC complex subunit 1  TSC1  tuberous sclerosis 1  Symbol and/or name change 5135510 APPROVED