Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hamartoma (D006222)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Malformations of Cortical Development, Group I (D065703)
Parent Node: Neoplasms, Multiple Primary (D009378)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..Tuberous Sclerosis (D014402)
Child Nodes:
........Polycystic kidneys, severe infantile with tuberous sclerosis (C536328)
........Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
........Tuberous Sclerosis 1 (C565346)
........Tuberous Sclerosis 2 (C566021)
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11329

Name:

Tuberous Sclerosis

Definition:

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

Alternative IDs:

ParentIDs:

TreeNumbers:

C04.445.810 |C04.651.800 |C04.700.632 |C10.500.507.400.750 |C10.562.850 |C10.574.500.865 |C16.131.666.507.400.750 |C16.320.400.880 |C16.320.700.636

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D014402
MeSH: D014402
OMIM: 191100;

Genes: TSC1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002086	Abnormality of the respiratory system
3	HP:0009727	Achromatic retinal patches
4	HP:0009720	Adenoma sebaceum
5	HP:0009592	Astrocytoma
6	HP:0007018	Attention deficit hyperactivity disorder
7	HP:0000717	Autism
8	HP:0000957	Cafe-au-lait spot
9	HP:0009729	Cardiac rhabdomyoma
10	HP:0002514	Cerebral calcification
11	HP:0010762	Chordoma
12	HP:0009717	Cortical tubers
13	HP:0009722	Dental enamel pits
14	HP:0002888	Ependymoma
15	HP:0000169	Gingival fibromatosis
16	HP:0001425	Heterogeneous
17	HP:0009719	Hypomelanotic macule
18	HP:0000821	Hypothyroidism
19	HP:0012469	Infantile spasms
20	HP:0001249	Intellectual disability	HP:0040284
21	HP:0009734	Optic nerve glioma
22	HP:0003812	Phenotypic variability
23	HP:0009554	Preauricular hair displacement
24	HP:0000826	Precocious puberty
25	HP:0200024	Premature chromatid separation
26	HP:0006772	Renal angiomyolipoma
27	HP:0005584	Renal cell carcinoma
28	HP:0000107	Renal cyst
29	HP:0001250	Seizure
30	HP:0009721	Shagreen patch
31	HP:0001328	Specific learning disability
32	HP:0001482	Subcutaneous nodule
33	HP:0009716	Subependymal nodules
34	HP:0009724	Subungual fibromas
35	HP:0001716	Wolff-Parkinson-White syndrome

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=)	7248	TSC1	Benign;Likely benign	35593170	RCV000206605; RCV000054911; RCV000042275; RCV000118694; RCV000163278;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135771793	135771793	NM_000368.4:c.3324C>T	NP_000359.1:p.Gly1108=	NC_000009.11:g.135771793G>A	Tuberous sclerosis database (TSC1):TSC1_00189	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=)	7248	TSC1	Benign	116747861	RCV000204589; RCV000042270; RCV000130762;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135771835	135771835	NM_000368.4:c.3282G>A	NP_000359.1:p.Glu1094=	NC_000009.11:g.135771835C>T	Tuberous sclerosis database (TSC1):TSC1_00188	C0027672 Hereditary cancer-predisposing syndrome; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser)	7248	TSC1	Benign;Likely benign;Uncertain significance	118203742	RCV000206026; RCV000054850; RCV000034609; RCV000122196; RCV000130763;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374; MedGen:CN221809	9	135772014	135772014	NM_000368.4:c.3103G>A	NP_000359.1:p.Gly1035Ser	NC_000009.11:g.135772014C>T	Tuberous sclerosis database (TSC1):TSC1_00187	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2865C>T (p.Thr955=)	7248	TSC1	Benign;Likely benign	45468995	RCV000205209; RCV000042259; RCV000152157; RCV000163343;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135772681	135772681	NM_000368.4:c.2865C>T	NP_000359.1:p.Thr955=	NC_000009.11:g.135772681G>A	Tuberous sclerosis database (TSC1):TSC1_00283	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2698C>T (p.Gln900Ter)	7248	TSC1	Pathogenic	397514871	RCV000201112; RCV000055019;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135772925	135772925	NM_000368.4:c.2698C>T	NP_000359.1:p.Gln900Ter	NC_000009.11:g.135772925G>A	Tuberous sclerosis database (TSC1):TSC1_00520	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2675_2676delGA (p.Arg892Lysfs)	7248	TSC1	Pathogenic	118203726	RCV000201049; RCV000042241;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135772947	135772948	NM_000368.4:c.2675_2676delGA	NP_000359.1:p.Arg892Lysfs	NC_000009.11:g.135772947_135772948delTC	Tuberous sclerosis database (TSC1):TSC1_00179	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2672delA (p.Asn891Thrfs)	7248	TSC1	Pathogenic	397514875	RCV000201176; RCV000055029;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135772951	135772951	NM_000368.4:c.2672delA	NP_000359.1:p.Asn891Thrfs	NC_000009.11:g.135772951delT	Tuberous sclerosis database (TSC1):TSC1_00465	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2626-4_2626-3insTT	7248	TSC1	Benign	5901000	RCV000202910; RCV000176155;	N	MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135773000	135773001	NM_000368.4:c.2626-4_2626-3insTT		NC_000009.11:g.135773000_135773001insAA,NC_000009.11:g.135773001dupA	-	CN221809 not provided; C1854465 191100 Tuberous sclerosis 1
NM_000368.4(TSC1):c.2626-4dupT	7248	TSC1	Benign	5901000	RCV000202711; RCV000176156;	N	MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135773001	135773001	NM_000368.4:c.2626-4dupT		NC_000009.11:g.135773000_135773001insAA,NC_000009.11:g.135773001dupA	-	CN169374 not specified; C1854465 191100 Tuberous sclerosis 1
NM_000368.4(TSC1):c.2515_2518delGAGT (p.Glu839Argfs)	7248	TSC1	Pathogenic	794727320	RCV000176033;	N	MedGen:C1854465,OMIM:191100	9	135776209	135776212	NM_000368.4:c.2515_2518delGAGT	NP_000359.1:p.Glu839Argfs	NC_000009.11:g.135776209_135776212delACTC	-	C1854465 191100 Tuberous sclerosis 1
NM_000368.4(TSC1):c.2509_2512delAACA (p.Asn837Valfs)	7248	TSC1	Pathogenic	118203707	RCV000201118; RCV000042222;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135776215	135776218	NM_000368.4:c.2509_2512delAACA	NP_000359.1:p.Asn837Valfs	NC_000009.11:g.135776215_135776218delTGTT	Tuberous sclerosis database (TSC1):TSC1_00170,Tuberous sclerosis database (TSC1):TSC1_00233	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter)	7248	TSC1	Pathogenic	118203682	RCV000201048; RCV000042194;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135778027	135778027	NM_000368.4:c.2356C>T	NP_000359.1:p.Arg786Ter	NC_000009.11:g.135778027G>A	Tuberous sclerosis database (TSC1):TSC1_00156	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr)	7248	TSC1	Benign;Likely benign;Pathogenic;Uncertain significance	118203657	RCV000005410; RCV000005409; RCV000054851; RCV000034607; RCV000118692; RCV000129684;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1846389; MedGen:C1854465,OMIM:191100; MedGen:CN169374; MedGen:CN221809	9	135779052	135779052	NM_000368.4:c.2194C>T	NP_000359.1:p.His732Tyr	NC_000009.11:g.135779052G>A	OMIM Allelic Variant:605284.0007,Tuberous sclerosis database (TSC1):TSC1_00144	C1846389 Focal cortical dysplasia of Taylor type 2B; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter)	7248	TSC1	Pathogenic	118203631	RCV000201087; RCV000054891; RCV000042136;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135779172	135779172	NM_000368.4:c.2074C>T	NP_000359.1:p.Arg692Ter	NC_000009.11:g.135779172G>A	Tuberous sclerosis database (TSC1):TSC1_00130	C0005684 109800 Malignant tumor of urinary bladder; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.2041+1G>A	7248	TSC1	Pathogenic	397514842	RCV000201001; RCV000054979;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135779797	135779797	NM_000368.4:c.2041+1G>A		NC_000009.11:g.135779797C>T	Tuberous sclerosis database (TSC1):TSC1_00705	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1977G>A (p.Ala659=)	7248	TSC1	Benign;Likely benign	35958226	RCV000206688; RCV000125630; RCV000163606;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135780988	135780988	NM_000368.4:c.1977G>A	NP_000359.1:p.Ala659=	NC_000009.11:g.135780988C>T	-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1
NM_000368.4(TSC1):c.1959dupA (p.Gln654Thrfs)	7248	TSC1	Pathogenic	118203603	RCV000201178; RCV000042108;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135781006	135781006	NM_000368.4:c.1959dupA	NP_000359.1:p.Gln654Thrfs	NC_000009.11:g.135781006dupT	Tuberous sclerosis database (TSC1):TSC1_00121	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1904_1905delCA (p.Thr635Argfs)	7248	TSC1	Pathogenic	118203597	RCV000005406; RCV000042102;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135781060	135781061	NM_000368.4:c.1904_1905delCA	NP_000359.1:p.Thr635Argfs	NC_000009.11:g.135781060_135781061delTG	OMIM Allelic Variant:605284.0004,Tuberous sclerosis database (TSC1):TSC1_00117,Tuberous sclerosis database (TSC1):TSC1_00223	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1888_1891delAAAG (p.Lys630Glnfs)	7248	TSC1	Pathogenic	118203595	RCV000005403; RCV000042099; RCV000189868;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135781074	135781077	NM_000368.4:c.1888_1891delAAAG	NP_000359.1:p.Lys630Glnfs	NC_000009.11:g.135781074_135781077delCTTT	OMIM Allelic Variant:605284.0001,Tuberous sclerosis database (TSC1):TSC1_00116,Tuberous sclerosis database (TSC1):TSC1_00116	CN221809 not provided; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1794C>T (p.Ser598=)	7248	TSC1	Likely benign	766438395	RCV000204435;	N	MedGen:C1854465,OMIM:191100	9	135781171	135781171	NM_000368.4:c.1794C>T	NP_000359.1:p.Ser598=	NC_000009.11:g.135781171G>A	-	C1854465 191100 Tuberous sclerosis 1
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg)	7248	TSC1	Benign;Uncertain significance	118203576	RCV000005405; RCV000042078; RCV000118691; RCV000163265;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135781205	135781205	NM_000368.4:c.1760A>G	NP_000359.1:p.Lys587Arg	NC_000009.11:g.135781205T>C	OMIM Allelic Variant:605284.0003,Tuberous sclerosis database (TSC1):TSC1_00108	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1726T>C (p.Leu576=)	7248	TSC1	Benign	118203567	RCV000206175; RCV000055008; RCV000042069; RCV000174844; RCV000162960;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135781239	135781239	NM_000368.4:c.1726T>C	NP_000359.1:p.Leu576=	NC_000009.11:g.135781239A>G	Tuberous sclerosis database (TSC1):TSC1_00274	C0027672 Hereditary cancer-predisposing syndrome; C0005684 109800 Malignant tumor of urinary bladder; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1680_1702del23 (p.Ser561Argfs)	7248	TSC1	Pathogenic	118203557	RCV000005407; RCV000054946;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135781263	135781285	NM_000368.4:c.1680_1702del23	NP_000359.1:p.Ser561Argfs	NC_000009.11:g.135781263_135781285del23	OMIM Allelic Variant:605284.0005,Tuberous sclerosis database (TSC1):TSC1_00200,Tuberous sclerosis database (TSC1):TSC1_00660	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1580_1581delAG (p.Gln527Argfs)	7248	TSC1	Pathogenic	118203550	RCV000201005; RCV000042052;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135781384	135781385	NM_000368.4:c.1580_1581delAG	NP_000359.1:p.Gln527Argfs	NC_000009.11:g.135781384_135781385delCT	Tuberous sclerosis database (TSC1):TSC1_00099	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter)	7248	TSC1	Pathogenic	118203542	RCV000201132; RCV000055036; RCV000042043; RCV000189847;	N	MedGen:C0005684,OMIM:109800,SNOMED CT:399326009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135781440	135781440	NM_000368.4:c.1525C>T	NP_000359.1:p.Arg509Ter	NC_000009.11:g.135781440G>A	Tuberous sclerosis database (TSC1):TSC1_00096	C0005684 109800 Malignant tumor of urinary bladder; CN221809 not provided; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1431_1434delAGAA (p.Glu478Lysfs)	7248	TSC1	Pathogenic	118203527	RCV000201075; RCV000042026;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135782122	135782125	NM_000368.4:c.1431_1434delAGAA	NP_000359.1:p.Glu478Lysfs	NC_000009.11:g.135782122_135782125delTTCT	Tuberous sclerosis database (TSC1):TSC1_00088	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser)	7248	TSC1	Benign	118203518	RCV000203929; RCV000054961; RCV000042017; RCV000122189; RCV000130698;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1510586; MedGen:C1854465,OMIM:191100; MedGen:CN169374	9	135782214	135782214	NM_000368.4:c.1342C>T	NP_000359.1:p.Pro448Ser	NC_000009.11:g.135782214G>A	Tuberous sclerosis database (TSC1):TSC1_00442	C1510586 Autism spectrum disorders; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.1257delC (p.Arg420Glyfs)	7248	TSC1	Pathogenic	118203506	RCV000201015; RCV000042000;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135785964	135785964	NM_000368.4:c.1257delC	NP_000359.1:p.Arg420Glyfs	NC_000009.11:g.135785964delG	Tuberous sclerosis database (TSC1):TSC1_00079	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.989_990delTG (p.Leu330Glnfs)	7248	TSC1	Pathogenic	118203479	RCV000201052; RCV000042389;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135786879	135786880	NM_000368.4:c.989_990delTG	NP_000359.1:p.Leu330Glnfs	NC_000009.11:g.135786879_135786880delCA	Tuberous sclerosis database (TSC1):TSC1_00208	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.989dupT (p.Ser331Glufs)	7248	TSC1	Pathogenic	118203478	RCV000201139; RCV000042390; RCV000189866;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135786880	135786880	NM_000368.4:c.989dupT	NP_000359.1:p.Ser331Glufs	NC_000009.11:g.135786880dupA	Tuberous sclerosis database (TSC1):TSC1_00067	CN221809 not provided; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.973C>T (p.Gln325Ter)	7248	TSC1	Pathogenic	118203474	RCV000201208; RCV000042385;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135786896	135786896	NM_000368.4:c.973C>T	NP_000359.1:p.Gln325Ter	NC_000009.11:g.135786896G>A	Tuberous sclerosis database (TSC1):TSC1_00206	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.901_902delCA (p.Gln301Glufs)	7248	TSC1	Pathogenic	118203464	RCV000180495; RCV000042375;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135787680	135787681	NM_000368.4:c.901_902delCA	NP_000359.1:p.Gln301Glufs	NC_000009.11:g.135787680_135787681delTG	Tuberous sclerosis database (TSC1):TSC1_00329	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.866C>G (p.Ser289Ter)	7248	TSC1	Pathogenic	397514867	RCV000201058; RCV000055015;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135787716	135787716	NM_000368.4:c.866C>G	NP_000359.1:p.Ser289Ter	NC_000009.11:g.135787716G>C	Tuberous sclerosis database (TSC1):TSC1_00565	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter)	7248	TSC1	Pathogenic	118203447	RCV000005404; RCV000042356;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135787833	135787833	NM_000368.4:c.749T>A	NP_000359.1:p.Leu250Ter	NC_000009.11:g.135787833A>C,NC_000009.11:g.135787833A>T	OMIM Allelic Variant:605284.0002,Tuberous sclerosis database (TSC1):TSC1_00402	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter)	7248	TSC1	Pathogenic	118203434	RCV000201189; RCV000042345;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135796754	135796754	NM_000368.4:c.733C>T	NP_000359.1:p.Arg245Ter	NC_000009.11:g.135796754G>A	Tuberous sclerosis database (TSC1):TSC1_00040	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter)	7248	TSC1	Pathogenic	118203427	RCV000201126; RCV000042337; RCV000189836;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100; MedGen:CN221809	9	135796805	135796805	NM_000368.4:c.682C>T	NP_000359.1:p.Arg228Ter	NC_000009.11:g.135796805G>A	Tuberous sclerosis database (TSC1):TSC1_00037	CN221809 not provided; C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.671T>G (p.Met224Arg)	7248	TSC1	Pathogenic	118203426	RCV000005411; RCV000042336;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135796816	135796816	NM_000368.4:c.671T>G	NP_000359.1:p.Met224Arg	NC_000009.11:g.135796816A>C	OMIM Allelic Variant:605284.0008,Tuberous sclerosis database (TSC1):TSC1_00036	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.664-1G>C	7248	TSC1	Pathogenic	118203423	RCV000201068; RCV000042334;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135796824	135796824	NM_000368.4:c.664-1G>C		NC_000009.11:g.135796824C>G,NC_000009.11:g.135796824C>T	Tuberous sclerosis database (TSC1):TSC1_00417	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro)	7248	TSC1	Pathogenic	118203396	RCV000005412; RCV000042306;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135797330	135797330	NM_000368.4:c.539T>C	NP_000359.1:p.Leu180Pro	NC_000009.11:g.135797330A>G	OMIM Allelic Variant:605284.0009,Tuberous sclerosis database (TSC1):TSC1_00411	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.271_272delTC (p.Ser91Valfs)	7248	TSC1	Pathogenic	118203360	RCV000201195; RCV000042247;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135801065	135801066	NM_000368.4:c.271_272delTC	NP_000359.1:p.Ser91Valfs	NC_000009.11:g.135801065_135801066delGA	Tuberous sclerosis database (TSC1):TSC1_00011	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome
NM_000368.4(TSC1):c.211-2A>C	7248	TSC1	Pathogenic	118203352	RCV000201170; RCV000042154;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1854465,OMIM:191100	9	135801128	135801128	NM_000368.4:c.211-2A>C		NC_000009.11:g.135801128T>G	Tuberous sclerosis database (TSC1):TSC1_00243	C1854465 191100 Tuberous sclerosis 1; C0041341 Tuberous sclerosis syndrome