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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

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

Disease Browser
Parent Node: Tuberous Sclerosis (D014402)
..Starting node ..Tuberous Sclerosis 1 (C565346)
Child Nodes:
Sister Nodes:
..Polycystic kidneys, severe infantile with tuberous sclerosis (C536328)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Tuberous Sclerosis 1 (C565346)
..Tuberous Sclerosis 2 (C566021)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11330

Name:

Tuberous Sclerosis 1

Definition:

Alternative IDs:

OMIM:191100

ParentIDs:

MESH:D014402

TreeNumbers:

C04.445.810/C565346 |C04.651.800/C565346 |C04.700.632/C565346 |C10.500.507.400.750/C565346 |C10.562.850/C565346 |C10.574.500.865/C565346 |C16.131.666.507.400.750/C565346 |C16.320.400.880/C565346 |C16.320.700.636/C565346

Synonyms:

TS |TSC |TSC1 |TUBEROSE SCLEROSIS |TUBEROUS SCLEROSIS COMPLEX

Slim Mappings:

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

Reference:

MedGen: C565346
MeSH: C565346
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