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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 2 (C566021)
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:

11331

Name:

Tuberous Sclerosis 2

Definition:

Alternative IDs:

OMIM:613254

ParentIDs:

MESH:D014402

TreeNumbers:

C04.445.810/C566021 |C04.651.800/C566021 |C04.700.632/C566021 |C10.500.507.400.750/C566021 |C10.562.850/C566021 |C10.574.500.865/C566021 |C16.131.666.507.400.750/C566021 |C16.320.400.880/C566021 |C16.320.700.636/C566021

Synonyms:

TSC2 |TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF, INCLUDED

Slim Mappings:

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

Reference:

MedGen: C566021
MeSH: C566021
OMIM: 613254;

Genes: IFNG; TSC2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009727	Achromatic retinal patches
3	HP:0009720	Adenoma sebaceum
4	HP:0009592	Astrocytoma
5	HP:0007018	Attention deficit hyperactivity disorder
6	HP:0000717	Autism
7	HP:0000957	Cafe-au-lait spot
8	HP:0009729	Cardiac rhabdomyoma
9	HP:0002514	Cerebral calcification
10	HP:0010762	Chordoma
11	HP:0009717	Cortical tubers
12	HP:0002888	Ependymoma
13	HP:0000169	Gingival fibromatosis
14	HP:0001425	Heterogeneous
15	HP:0000821	Hypothyroidism
16	HP:0012469	Infantile spasms
17	HP:0001249	Intellectual disability	HP:0040284
18	HP:0009734	Optic nerve glioma
19	HP:0003812	Phenotypic variability
20	HP:0000826	Precocious puberty
21	HP:0006772	Renal angiomyolipoma
22	HP:0005584	Renal cell carcinoma
23	HP:0000107	Renal cyst
24	HP:0001250	Seizure
25	HP:0009721	Shagreen patch
26	HP:0001328	Specific learning disability
27	HP:0001482	Subcutaneous nodule
28	HP:0009716	Subependymal nodules
29	HP:0009724	Subungual fibromas
30	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_000488.3(SERPINC1):c.1213C>A (p.Leu405Ile)	462	SERPINC1	not provided	483352859	RCV000087280;	N	MedGen:C1860707,OMIM:613254	1	173876593	173876593	NM_000488.3:c.1213C>A	NP_000479.1:p.Leu405Ile	NC_000001.10:g.173876593G>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.1154-7C>A	462	SERPINC1	not provided	483352858	RCV000087278;	N	MedGen:C1860707,OMIM:613254	1	173876659	173876659	NM_000488.3:c.1154-7C>A		NC_000001.10:g.173876659G>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.1033_1035delGAG (p.Glu345del)	462	SERPINC1	not provided	483352855	RCV000087277;	N	MedGen:C1860707,OMIM:613254	1	173878808	173878810	NM_000488.3:c.1033_1035delGAG	NP_000479.1:p.Glu345del	NC_000001.10:g.173878808_173878810delCTC	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.1016G>A (p.Trp339Ter)	462	SERPINC1	not provided	483352856	RCV000087276;	N	MedGen:C1860707,OMIM:613254	1	173878827	173878827	NM_000488.3:c.1016G>A	NP_000479.1:p.Trp339Ter	NC_000001.10:g.173878827C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.849_853dupGATGT (p.Tyr285Terfs)	462	SERPINC1	not provided	483352857	RCV000087291;	N	MedGen:C1860707,OMIM:613254	1	173878990	173878994	NM_000488.3:c.849_853dupGATGT	NP_000479.1:p.Tyr285Terfs	NC_000001.10:g.173878990_173878994dupACATC	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.641C>A (p.Ser214Tyr)	462	SERPINC1	not provided	483352854	RCV000087290;	N	MedGen:C1860707,OMIM:613254	1	173880013	173880013	NM_000488.3:c.641C>A	NP_000479.1:p.Ser214Tyr	NC_000001.10:g.173880013G>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.624+11G>A	462	SERPINC1	not provided	483352846	RCV000087289;	N	MedGen:C1860707,OMIM:613254	1	173880926	173880926	NM_000488.3:c.624+11G>A		NC_000001.10:g.173880926C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.598G>C (p.Ala200Pro)	462	SERPINC1	not provided	483352853	RCV000087288;	N	MedGen:C1860707,OMIM:613254	1	173880963	173880963	NM_000488.3:c.598G>C	NP_000479.1:p.Ala200Pro	NC_000001.10:g.173880963C>G	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.536T>A (p.Phe179Tyr)	462	SERPINC1	not provided	483352847	RCV000087287;	N	MedGen:C1860707,OMIM:613254	1	173881025	173881025	NM_000488.3:c.536T>A	NP_000479.1:p.Phe179Tyr	NC_000001.10:g.173881025A>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe)	462	SERPINC1	not provided	483352851	RCV000087286;	N	MedGen:C1860707,OMIM:613254	1	173881055	173881055	NM_000488.3:c.506C>T	NP_000479.1:p.Ser169Phe	NC_000001.10:g.173881055G>A	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.491G>A (p.Arg164Gln)	462	SERPINC1	not provided	483352852	RCV000087285;	N	MedGen:C1860707,OMIM:613254	1	173881070	173881070	NM_000488.3:c.491G>A	NP_000479.1:p.Arg164Gln	NC_000001.10:g.173881070C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.486_487delCT (p.Tyr163Serfs)	462	SERPINC1	not provided	483352850	RCV000087284;	N	MedGen:C1860707,OMIM:613254	1	173881074	173881075	NM_000488.3:c.486_487delCT	NP_000479.1:p.Tyr163Serfs	NC_000001.10:g.173881074_173881075delAG	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.458T>A (p.Phe153Tyr)	462	SERPINC1	not provided	483352848	RCV000087283;	N	MedGen:C1860707,OMIM:613254	1	173881103	173881103	NM_000488.3:c.458T>A	NP_000479.1:p.Phe153Tyr	NC_000001.10:g.173881103A>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.409-24A>C	462	SERPINC1	not provided	483352849	RCV000087281;	N	MedGen:C1860707,OMIM:613254	1	173881176	173881176	NM_000488.3:c.409-24A>C		NC_000001.10:g.173881176T>G	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.116_123delTCTGCACA (p.Ile39Serfs)	462	SERPINC1	not provided	483352844	RCV000087279;	N	MedGen:C1860707,OMIM:613254	1	173883976	173883983	NM_000488.3:c.116_123delTCTGCACA	NP_000479.1:p.Ile39Serfs	NC_000001.10:g.173883976_173883983delTGTGCAGA	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.42-12G>A	462	SERPINC1	not provided	483352845	RCV000087282;	N	MedGen:C1860707,OMIM:613254	1	173884069	173884069	NM_000488.3:c.42-12G>A		NC_000001.10:g.173884069C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.-11G>A	462	SERPINC1	not provided	483352843	RCV000087274;	N	MedGen:C1860707,OMIM:613254	1	173886408	173886408	NM_000488.3:c.-11G>A		NC_000001.10:g.173886408C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000488.3(SERPINC1):c.-35C>T	462	SERPINC1	not provided	200460215	RCV000087275;	N	MedGen:C1860707,OMIM:613254	1	173886432	173886432	NM_000488.3:c.-35C>T		NC_000001.10:g.173886432G>A	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.34A>T (p.Lys12Ter)	7249	TSC2	Pathogenic	45512692	RCV000013202; RCV000042837;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2098650	2098650	NM_000548.4:c.34A>T	NP_000539.2:p.Lys12Ter		OMIM Allelic Variant:191092.0003,Tuberous sclerosis database (TSC2):TSC2_00047	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.45dupT (p.Lys16Terfs)	7249	TSC2	Pathogenic	863225040	RCV000201207;	N	MedGen:C1860707,OMIM:613254	16	2098661	2098661	NM_000548.4:c.45dupT	NP_000539.2:p.Lys16Terfs	NC_000016.9:g.2098661dupT	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.226-2A>G	7249	TSC2	Pathogenic	45517096	RCV000201113; RCV000042457;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2103341	2103341	NM_000548.4:c.226-2A>G			Tuberous sclerosis database (TSC2):TSC2_00798	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.228C>T (p.His76=)	7249	TSC2	Benign;Likely benign;Uncertain significance	45517097	RCV000205829; RCV000042459; RCV000125702; RCV000186671; RCV000163371;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2103345	2103345	NM_000548.4:c.228C>T	NP_000539.2:p.His76=		Tuberous sclerosis database (TSC2):TSC2_00035	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.255C>T (p.Val85=)	7249	TSC2	Benign;Likely benign	45517098	RCV000203895; RCV000042832; RCV000125703; RCV000163465;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2103372	2103372	NM_000548.4:c.255C>T	NP_000539.2:p.Val85=		Tuberous sclerosis database (TSC2):TSC2_00074	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.569dupA (p.Tyr190Terfs)	7249	TSC2	Pathogenic	137854359	RCV000201021; RCV000043304;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2105490	2105490	NM_000548.4:c.569dupA	NP_000539.2:p.Tyr190Terfs		Tuberous sclerosis database (TSC2):TSC2_00093	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.583A>G (p.Ile195Val)	7249	TSC2	Likely benign;Uncertain significance	148325559	RCV000205768; RCV000189962;	N	MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2105504	2105504	NM_000548.4:c.583A>G	NP_000539.2:p.Ile195Val		-	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.646G>T (p.Glu216Ter)	7249	TSC2	Pathogenic	45517118	RCV000201082; RCV000042640;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2106243	2106243	NM_000548.4:c.646G>T	NP_000539.2:p.Glu216Ter		Tuberous sclerosis database (TSC2):TSC2_00803	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.648+1G>A	7249	TSC2	Pathogenic	45488893	RCV000201164; RCV000042670;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2106246	2106246	NM_000548.4:c.648+1G>A			Tuberous sclerosis database (TSC2):TSC2_00365	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.649-1G>C	7249	TSC2	Pathogenic	794727906	RCV000180176;	N	MedGen:C1860707,OMIM:613254	16	2106644	2106644	NM_000548.4:c.649-1G>C		NC_000016.9:g.2106644G>C	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.729C>G (p.Leu243=)	7249	TSC2	Benign;Likely benign	45473698	RCV000204102; RCV000042642; RCV000180175; RCV000163296;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2106725	2106725	NM_000548.4:c.729C>G	NP_000539.2:p.Leu243=		Tuberous sclerosis database (TSC2):TSC2_00122	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.826_827delAT (p.Met276Valfs)	7249	TSC2	Pathogenic	137853977	RCV000180518; RCV000042707;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2107157	2107158	NM_000548.4:c.826_827delAT	NP_000539.2:p.Met276Valfs		Tuberous sclerosis database (TSC2):TSC2_00131	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.848+1G>A	7249	TSC2	Pathogenic	45466296	RCV000201109; RCV000043189; RCV000190083;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2107180	2107180	NM_000548.4:c.848+1G>A			Tuberous sclerosis database (TSC2):TSC2_00806	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.848+7G>A	7249	TSC2	Benign	45442896	RCV000205344; RCV000042659; RCV000125706; RCV000210774;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2107186	2107186	NM_000548.4:c.848+7G>A			Tuberous sclerosis database (TSC2):TSC2_00898	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.948G>A (p.Pro316=)	7249	TSC2	Benign;Likely benign	45517141	RCV000206528; RCV000042655; RCV000125639; RCV000163422;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2108847	2108847	NM_000548.4:c.948G>A	NP_000539.2:p.Pro316=		Tuberous sclerosis database (TSC2):TSC2_00933	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1004C>G (p.Ser335Cys)	7249	TSC2	Uncertain significance	45517144	RCV000202762; RCV000042915;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2110699	2110699	NM_000548.4:c.1004C>G	NP_000539.2:p.Ser335Cys		Tuberous sclerosis database (TSC2):TSC2_00738	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1040A>G (p.Lys347Arg)	7249	TSC2	Uncertain significance	367963898	RCV000205714; RCV000055159;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2110735	2110735	NM_000548.4:c.1040A>G	NP_000539.2:p.Lys347Arg		Tuberous sclerosis database (TSC2):TSC2_02339	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1100G>A (p.Arg367Gln)	7249	TSC2	Benign;Likely benign	1800725	RCV000203922; RCV000054867; RCV000034642; RCV000118696; RCV000129200;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2110795	2110795	NM_000548.4:c.1100G>A	NP_000539.2:p.Arg367Gln		Tuberous sclerosis database (TSC2):TSC2_00163	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1110G>A (p.Gln370=)	7249	TSC2	Benign	1800742	RCV000204769; RCV000042396; RCV000118697; RCV000163259;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2110805	2110805	NM_000548.4:c.1110G>A	NP_000539.2:p.Gln370=		Tuberous sclerosis database (TSC2):TSC2_00164	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1229T>G (p.Leu410Arg)	7249	TSC2	Likely pathogenic	137854298	RCV000201010; RCV000042942;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2111981	2111981	NM_000548.4:c.1229T>G	NP_000539.2:p.Leu410Arg		Tuberous sclerosis database (TSC2):TSC2_01125	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1255C>T (p.Pro419Ser)	7249	TSC2	Pathogenic	45517159	RCV000201101; RCV000043444;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2112007	2112007	NM_000548.4:c.1255C>T	NP_000539.2:p.Pro419Ser		Tuberous sclerosis database (TSC2):TSC2_00389	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1281C>A (p.Ile427=)	7249	TSC2	Benign;Likely benign	45478892	RCV000055284; RCV000205713; RCV000042948; RCV000174491; RCV000163377;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2112521	2112521	NM_000548.4:c.1281C>A	NP_000539.2:p.Ile427=		Tuberous sclerosis database (TSC2):TSC2_00064	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1322G>A (p.Trp441Ter)	7249	TSC2	Pathogenic	45515894	RCV000013216; RCV000043450;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2112562	2112562	NM_000548.4:c.1322G>A	NP_000539.2:p.Trp441Ter		OMIM Allelic Variant:191092.0017,Tuberous sclerosis database (TSC2):TSC2_00393	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1362-32C>G	7249	TSC2	Likely benign	45517166	RCV000210892; RCV000042967;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2112941	2112941	NM_000548.4:c.1362-32C>G			Tuberous sclerosis database (TSC2):TSC2_00396	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1372C>T (p.Arg458Ter)	7249	TSC2	Pathogenic	45517169	RCV000201131; RCV000042408;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2112983	2112983	NM_000548.4:c.1372C>T	NP_000539.2:p.Arg458Ter		Tuberous sclerosis database (TSC2):TSC2_00070	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1378G>A (p.Ala460Thr)	7249	TSC2	Benign;Likely benign	137854154	RCV000204918; RCV000042922; RCV000122206; RCV000130880;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2112989	2112989	NM_000548.4:c.1378G>A	NP_000539.2:p.Ala460Thr		Tuberous sclerosis database (TSC2):TSC2_01096	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1432C>T (p.Gln478Ter)	7249	TSC2	Pathogenic	121964862	RCV000013208; RCV000042413;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2113043	2113043	NM_000548.4:c.1432C>T	NP_000539.2:p.Gln478Ter		OMIM Allelic Variant:191092.0008,Tuberous sclerosis database (TSC2):TSC2_01030	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1444-2A>G	7249	TSC2	Pathogenic	45517174	RCV000201016; RCV000042895;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2114271	2114271	NM_000548.4:c.1444-2A>G			Tuberous sclerosis database (TSC2):TSC2_00003	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1447G>T (p.Glu483Ter)	7249	TSC2	Pathogenic	397515297	RCV000201103; RCV000055085;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2114276	2114276	NM_000548.4:c.1447G>T	NP_000539.2:p.Glu483Ter		Tuberous sclerosis database (TSC2):TSC2_02030	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1513C>T (p.Arg505Ter)	7249	TSC2	Pathogenic	45517179	RCV000055539; RCV000013204; RCV000043399;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254	16	2114342	2114342	NM_000548.4:c.1513C>T	NP_000539.2:p.Arg505Ter		OMIM Allelic Variant:191092.0005,Tuberous sclerosis database (TSC2):TSC2_00051	C0751674 606690 Lymphangiomyomatosis; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1543C>T (p.Leu515=)	7249	TSC2	Benign;Likely benign	35896166	RCV000204045; RCV000055387; RCV000118699; RCV000162956;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2114372	2114372	NM_000548.4:c.1543C>T	NP_000539.2:p.Leu515=		Tuberous sclerosis database (TSC2):TSC2_02346	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1599+1G>A	7249	TSC2	Pathogenic	45517182	RCV000201163; RCV000042908;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2114429	2114429	NM_000548.4:c.1599+1G>A			Tuberous sclerosis database (TSC2):TSC2_00817	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1656A>G (p.Ala552=)	7249	TSC2	Likely benign	373515515	RCV000206816; RCV000055049;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2115576	2115576	NM_000548.4:c.1656A>G	NP_000539.2:p.Ala552=		Tuberous sclerosis database (TSC2):TSC2_02350	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr)	7249	TSC2	Benign;Likely benign	1800729	RCV000204294; RCV000054859; RCV000034646; RCV000122209; RCV000129673;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2120487	2120487	NM_000548.4:c.1747G>A	NP_000539.2:p.Ala583Thr		Tuberous sclerosis database (TSC2):TSC2_00178	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr)	7249	TSC2	Likely benign	45517203	RCV000204009; RCV000054869; RCV000034647; RCV000175145; RCV000163316;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2120559	2120559	NM_000548.4:c.1819G>A	NP_000539.2:p.Ala607Thr		Tuberous sclerosis database (TSC2):TSC2_00008	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1832G>A (p.Arg611Gln)	7249	TSC2	Pathogenic	28934872	RCV000055317; RCV000013205; RCV000042946;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254	16	2120572	2120572	NM_000548.4:c.1832G>A	NP_000539.2:p.Arg611Gln		OMIM Allelic Variant:191092.0006,Tuberous sclerosis database (TSC2):TSC2_00105	C0751674 606690 Lymphangiomyomatosis; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1946T>C (p.Met649Thr)	7249	TSC2	Likely benign	45490792	RCV000202889; RCV000043458; RCV000122211;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2121617	2121617	NM_000548.4:c.1946T>C	NP_000539.2:p.Met649Thr		Tuberous sclerosis database (TSC2):TSC2_00429	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.1959_1960delAG (p.Gly654Leufs)	7249	TSC2	Pathogenic	397515226	RCV000201097; RCV000055533;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2121797	2121798	NM_000548.4:c.1959_1960delAG	NP_000539.2:p.Gly654Leufs		Tuberous sclerosis database (TSC2):TSC2_01185	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2009C>T (p.Pro670Leu)	7249	TSC2	Likely benign;Uncertain significance	397515288	RCV000204401; RCV000055611; RCV000189898;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2121847	2121847	NM_000548.4:c.2009C>T	NP_000539.2:p.Pro670Leu		Tuberous sclerosis database (TSC2):TSC2_01222	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2031C>T (p.Pro677=)	7249	TSC2	Benign;Likely benign;Uncertain significance	45517208	RCV000203878; RCV000042878; RCV000175404; RCV000163346;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2121869	2121869	NM_000548.4:c.2031C>T	NP_000539.2:p.Pro677=		Tuberous sclerosis database (TSC2):TSC2_00191	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2032G>A (p.Ala678Thr)	7249	TSC2	Benign;Likely benign;Uncertain significance	200494044	RCV000205984; RCV000189900; RCV000163290;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2121870	2121870	NM_000548.4:c.2032G>A	NP_000539.2:p.Ala678Thr		-	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.2056_2059dupTACT (p.Ser687Leufs)	7249	TSC2	Pathogenic	137854337	RCV000013203; RCV000043367;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2121894	2121897	NM_000548.4:c.2056_2059dupTACT	NP_000539.2:p.Ser687Leufs		OMIM Allelic Variant:191092.0004,Tuberous sclerosis database (TSC2):TSC2_00062	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2108G>A (p.Trp703Ter)	7249	TSC2	Pathogenic	45517213	RCV000201180; RCV000043001;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2122252	2122252	NM_000548.4:c.2108G>A	NP_000539.2:p.Trp703Ter		Tuberous sclerosis database (TSC2):TSC2_00440	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2150T>G (p.Leu717Arg)	7249	TSC2	Pathogenic	45517214	RCV000013207; RCV000042452;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2122294	2122294	NM_000548.4:c.2150T>G	NP_000539.2:p.Leu717Arg		OMIM Allelic Variant:191092.0007,Tuberous sclerosis database (TSC2):TSC2_00247	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2251C>T (p.Arg751Ter)	7249	TSC2	Pathogenic	45517222	RCV000201032; RCV000043398;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2122880	2122880	NM_000548.4:c.2251C>T	NP_000539.2:p.Arg751Ter		Tuberous sclerosis database (TSC2):TSC2_00197	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2355+2_2355+5delTAGG	7249	TSC2	Pathogenic	137854250	RCV000013215; RCV000042461;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2122986	2122989	NM_000548.4:c.2355+2_2355+5delTAGG			OMIM Allelic Variant:191092.0016,Tuberous sclerosis database (TSC2):TSC2_00254,Tuberous sclerosis database (TSC2):TSC2_01112	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2356-2A>C	7249	TSC2	Pathogenic	45517229	RCV000201046; RCV000042463;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2124199	2124199	NM_000548.4:c.2356-2A>C			Tuberous sclerosis database (TSC2):TSC2_00203	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2410T>C (p.Cys804Arg)	7249	TSC2	Likely pathogenic;Pathogenic	137853995	RCV000201105; RCV000042990; RCV000189999;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2124255	2124255	NM_000548.4:c.2410T>C	NP_000539.2:p.Cys804Arg		Tuberous sclerosis database (TSC2):TSC2_01116	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2459_2461delTCA (p.Ile820del)	7249	TSC2	Likely pathogenic	137854128	RCV000201194; RCV000042853;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2124304	2124306	NM_000548.4:c.2459_2461delTCA	NP_000539.2:p.Ile820del		Tuberous sclerosis database (TSC2):TSC2_00461,Tuberous sclerosis database (TSC2):TSC2_01060	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met)	7249	TSC2	Likely benign	45517238	RCV000204134; RCV000054857; RCV000034649; RCV000176271; RCV000163390;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2124321	2124321	NM_000548.4:c.2476C>A	NP_000539.2:p.Leu826Met		Tuberous sclerosis database (TSC2):TSC2_00132	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2545+26G>A	7249	TSC2	Benign	45517242	RCV000205383; RCV000042888;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2124416	2124416	NM_000548.4:c.2545+26G>A			Tuberous sclerosis database (TSC2):TSC2_00468	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2546-4G>A	7249	TSC2	Likely benign	746958032	RCV000205581;	N	MedGen:C1860707,OMIM:613254	16	2125796	2125796	NM_000548.4:c.2546-4G>A		NC_000016.9:g.2125796G>A	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.2546-2A>G	7249	TSC2	Pathogenic	45517246	RCV000176373; RCV000043045;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2125798	2125798	NM_000548.4:c.2546-2A>G			Tuberous sclerosis database (TSC2):TSC2_00832	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2639+1G>C	7249	TSC2	Pathogenic	45517252	RCV000201066; RCV000043111;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2125894	2125894	NM_000548.4:c.2639+1G>C			Tuberous sclerosis database (TSC2):TSC2_00475	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2666C>T (p.Ala889Val)	7249	TSC2	Pathogenic	137854155	RCV000201152; RCV000042847;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2126095	2126095	NM_000548.4:c.2666C>T	NP_000539.2:p.Ala889Val		Tuberous sclerosis database (TSC2):TSC2_01111	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2712C>G (p.Phe904Leu)	7249	TSC2	Likely benign;Uncertain significance	137920189	RCV000203097; RCV000189910;	N	MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2126141	2126141	NM_000548.4:c.2712C>G	NP_000539.2:p.Phe904Leu		-	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.2713C>T (p.Arg905Trp)	7249	TSC2	Pathogenic	45517258	RCV000013213; RCV000042962;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2126142	2126142	NM_000548.4:c.2713C>T	NP_000539.2:p.Arg905Trp		OMIM Allelic Variant:191092.0014,Tuberous sclerosis database (TSC2):TSC2_00110	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2713C>G (p.Arg905Gly)	7249	TSC2	Pathogenic	45517258	RCV000013214; RCV000042482;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2126142	2126142	NM_000548.4:c.2713C>G	NP_000539.2:p.Arg905Gly		OMIM Allelic Variant:191092.0015,Tuberous sclerosis database (TSC2):TSC2_00259	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.2714G>A (p.Arg905Gln)	7249	TSC2	Pathogenic	45517259	RCV000013212; RCV000221069; RCV000042875;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	2126143	2126143	NM_000548.4:c.2714G>A	NP_000539.2:p.Arg905Gln		OMIM Allelic Variant:191092.0013,Tuberous sclerosis database (TSC2):TSC2_00134	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000548.4(TSC2):c.2838-6C>T	7249	TSC2	Likely benign	528706539	RCV000205443;	N	MedGen:C1860707,OMIM:613254	16	2127593	2127593	NM_000548.4:c.2838-6C>T		NC_000016.9:g.2127593C>T	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.2979G>A (p.Thr993=)	7249	TSC2	Benign;Likely benign	45517277	RCV000203727; RCV000043038; RCV000125668; RCV000163283;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2129045	2129045	NM_000548.4:c.2979G>A	NP_000539.2:p.Thr993=		Tuberous sclerosis database (TSC2):TSC2_00491	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3095G>C (p.Arg1032Pro)	7249	TSC2	Likely pathogenic	45491698	RCV000201071; RCV000042500;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2129161	2129161	NM_000548.4:c.3095G>C	NP_000539.2:p.Arg1032Pro		Tuberous sclerosis database (TSC2):TSC2_00739	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3106T>C (p.Ser1036Pro)	7249	TSC2	Pathogenic	45517281	RCV000190879; RCV000043309;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2129172	2129172	NM_000548.4:c.3106T>C	NP_000539.2:p.Ser1036Pro		Tuberous sclerosis database (TSC2):TSC2_00497	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3126G>C (p.Pro1042=)	7249	TSC2	Benign;Likely benign	36078782	RCV000205029; RCV000043004; RCV000118703; RCV000163284;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2129192	2129192	NM_000548.4:c.3126G>C	NP_000539.2:p.Pro1042=		Tuberous sclerosis database (TSC2):TSC2_00499	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3140T>C (p.Val1047Ala)	7249	TSC2	Likely benign;Uncertain significance	45517284	RCV000204880; RCV000042825; RCV000122221; RCV000163970;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2129285	2129285	NM_000548.4:c.3140T>C	NP_000539.2:p.Val1047Ala		Tuberous sclerosis database (TSC2):TSC2_00507	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3206_3207delTG (p.Val1069Aspfs)	7249	TSC2	Pathogenic	137854076	RCV000201154; RCV000042505;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2129351	2129352	NM_000548.4:c.3206_3207delTG	NP_000539.2:p.Val1069Aspfs		Tuberous sclerosis database (TSC2):TSC2_00509	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs)	7249	TSC2	Pathogenic	137854314	RCV000201003; RCV000043342; RCV000190061;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2130169	2130169	NM_000548.4:c.3401delG	NP_000539.2:p.Gly1134Alafs		Tuberous sclerosis database (TSC2):TSC2_00209	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3412C>T (p.Arg1138Ter)	7249	TSC2	Pathogenic	45451497	RCV000201090; RCV000042516; RCV000190075;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2130180	2130180	NM_000548.4:c.3412C>T	NP_000539.2:p.Arg1138Ter		Tuberous sclerosis database (TSC2):TSC2_00267	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3598C>T (p.Arg1200Trp)	7249	TSC2	Pathogenic	45438205	RCV000190880; RCV000043035; RCV000190021;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2130366	2130366	NM_000548.4:c.3598C>T	NP_000539.2:p.Arg1200Trp		Tuberous sclerosis database (TSC2):TSC2_00056	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3611G>A (p.Gly1204Glu)	7249	TSC2	Likely pathogenic	45462194	RCV000201026; RCV000043416;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2131596	2131596	NM_000548.4:c.3611G>A	NP_000539.2:p.Gly1204Glu		Tuberous sclerosis database (TSC2):TSC2_00885	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3696dupT (p.Asn1233Terfs)	7249	TSC2	Pathogenic	137854210	RCV000201083; RCV000042799;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2131681	2131681	NM_000548.4:c.3696dupT	NP_000539.2:p.Asn1233Terfs		Tuberous sclerosis database (TSC2):TSC2_00783	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.3883+8C>G	7249	TSC2	Benign;Likely benign	45517316	RCV000206140; RCV000043293; RCV000118704;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2132513	2132513	NM_000548.4:c.3883+8C>G			Tuberous sclerosis database (TSC2):TSC2_00539	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4077C>T (p.Ile1359=)	7249	TSC2	Benign;Likely benign;Uncertain significance	150999168	RCV000206845; RCV000177763; RCV000189925;	N	MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2134300	2134300	NM_000548.4:c.4077C>T	NP_000539.2:p.Ile1359=		-	CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.4096G>T (p.Glu1366Ter)	7249	TSC2	Pathogenic	45517327	RCV000201169; RCV000042815;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134319	2134319	NM_000548.4:c.4096G>T	NP_000539.2:p.Glu1366Ter		Tuberous sclerosis database (TSC2):TSC2_00557	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4115_4116delTG (p.Val1372Glyfs)	7249	TSC2	Pathogenic	137854368	RCV000201043; RCV000042543;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134338	2134339	NM_000548.4:c.4115_4116delTG	NP_000539.2:p.Val1372Glyfs		Tuberous sclerosis database (TSC2):TSC2_00858	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4147_4163dup17 (p.Pro1389Alafs)	7249	TSC2	Pathogenic	397515009	RCV000201100; RCV000055224;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134370	2134386	NM_000548.4:c.4147_4163dup17	NP_000539.2:p.Pro1389Alafs		Tuberous sclerosis database (TSC2):TSC2_01191	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4180_4181delCT (p.Leu1394Alafs)	7249	TSC2	Pathogenic	137854363	RCV000201157; RCV000043327;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134403	2134404	NM_000548.4:c.4180_4181delCT	NP_000539.2:p.Leu1394Alafs		Tuberous sclerosis database (TSC2):TSC2_00565	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp)	7249	TSC2	Likely benign;Uncertain significance	45517333	RCV000203781; RCV000054871; RCV000034657;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2134448	2134448	NM_000548.4:c.4225C>T	NP_000539.2:p.Arg1409Trp		Tuberous sclerosis database (TSC2):TSC2_00506	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4269G>A (p.Leu1423=)	7249	TSC2	Benign;Likely benign	45438898	RCV000203676; RCV000042548; RCV000177761; RCV000163262;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2134492	2134492	NM_000548.4:c.4269G>A	NP_000539.2:p.Leu1423=		Tuberous sclerosis database (TSC2):TSC2_00570	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4318C>T (p.Gln1440Ter)	7249	TSC2	Pathogenic	45517337	RCV000201035; RCV000042784;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134541	2134541	NM_000548.4:c.4318C>T	NP_000539.2:p.Gln1440Ter		Tuberous sclerosis database (TSC2):TSC2_00860	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4375C>T (p.Arg1459Ter)	7249	TSC2	Pathogenic	45517340	RCV000201120; RCV000043253; RCV000190004;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2134598	2134598	NM_000548.4:c.4375C>T	NP_000539.2:p.Arg1459Ter		Tuberous sclerosis database (TSC2):TSC2_00221	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4415delG (p.Gly1472Alafs)	7249	TSC2	Pathogenic	794727573	RCV000177762;	N	MedGen:C1860707,OMIM:613254	16	2134638	2134638	NM_000548.4:c.4415delG	NP_000539.2:p.Gly1472Alafs	NC_000016.9:g.2134638delG	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.4508A>C (p.Gln1503Pro)	7249	TSC2	Pathogenic	45516293	RCV000013210; RCV000043266;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2134966	2134966	NM_000548.4:c.4508A>C	NP_000539.2:p.Gln1503Pro		OMIM Allelic Variant:191092.0011,Tuberous sclerosis database (TSC2):TSC2_00747	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del)	7249	TSC2	Benign;Likely benign	137854239	RCV000206029; RCV000042561; RCV000034659; RCV000122238; RCV000131063;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2134985	2134987	NM_000548.4:c.4527_4529delCTT	NP_000539.2:p.Phe1510del	NC_000016.9:g.2134985_2134987delCTT	Tuberous sclerosis database (TSC2):TSC2_00017	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4536C>T (p.Asp1512=)	7249	TSC2	Benign;Likely benign	35986575	RCV000055290; RCV000206462; RCV000042764; RCV000118709; RCV000163349;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2134994	2134994	NM_000548.4:c.4536C>T	NP_000539.2:p.Asp1512=		Tuberous sclerosis database (TSC2):TSC2_00018	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4544_4547delACAA (p.Asn1515Serfs)	7249	TSC2	Pathogenic	137854175	RCV000201030; RCV000042563;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2135002	2135005	NM_000548.4:c.4544_4547delACAA	NP_000539.2:p.Asn1515Serfs		Tuberous sclerosis database (TSC2):TSC2_00019,Tuberous sclerosis database (TSC2):TSC2_00590	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4617A>G (p.Ser1539=)	7249	TSC2	Uncertain significance	201038907	RCV000205870;	N	MedGen:C1860707,OMIM:613254	16	2135278	2135278	NM_000548.4:c.4617A>G	NP_000539.2:p.Ser1539=	NC_000016.9:g.2135278A>G	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.4638C>T (p.Ala1546=)	7249	TSC2	Benign;Likely benign	45517354	RCV000205623; RCV000043287; RCV000125691; RCV000163426;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2135299	2135299	NM_000548.4:c.4638C>T	NP_000539.2:p.Ala1546=		Tuberous sclerosis database (TSC2):TSC2_00958	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4642delC (p.Leu1548Cysfs)	7249	TSC2	Pathogenic	137854083	RCV000013200; RCV000042568;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2135303	2135303	NM_000548.4:c.4642delC	NP_000539.2:p.Leu1548Cysfs		OMIM Allelic Variant:191092.0002,Tuberous sclerosis database (TSC2):TSC2_00011	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4716G>A (p.Thr1572=)	7249	TSC2	Likely benign	369346726	RCV000206862;	N	MedGen:C1860707,OMIM:613254	16	2136247	2136247	NM_000548.4:c.4716G>A	NP_000539.2:p.Thr1572=	NC_000016.9:g.2136247G>A	-	C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.4762C>T (p.Gln1588Ter)	7249	TSC2	Pathogenic	45479192	RCV000201115; RCV000043363;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2136293	2136293	NM_000548.4:c.4762C>T	NP_000539.2:p.Gln1588Ter		Tuberous sclerosis database (TSC2):TSC2_00866	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4842_4844delCAT (p.Ile1614del)	7249	TSC2	Pathogenic	137854331	RCV000201210; RCV000042585;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2136373	2136375	NM_000548.4:c.4842_4844delCAT	NP_000539.2:p.Ile1614del		Tuberous sclerosis database (TSC2):TSC2_00118	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4912_4914delAAG (p.Lys1638del)	7249	TSC2	Pathogenic	137854261	RCV000201053; RCV000043159;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2136795	2136797	NM_000548.4:c.4912_4914delAAG	NP_000539.2:p.Lys1638del		Tuberous sclerosis database (TSC2):TSC2_00872,Tuberous sclerosis database (TSC2):TSC2_01128	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4934_4935delTT (p.Phe1645Cysfs)	7249	TSC2	Pathogenic	137854249	RCV000201116; RCV000043248;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2136817	2136818	NM_000548.4:c.4934_4935delTT	NP_000539.2:p.Phe1645Cysfs		Tuberous sclerosis database (TSC2):TSC2_00068	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4959C>T (p.Ser1653=)	7249	TSC2	Benign	45517384	RCV000204644; RCV000043084; RCV000220474; RCV000055088; RCV000163269;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2136842	2136842	NM_000548.4:c.4959C>T	NP_000539.2:p.Ser1653=		Tuberous sclerosis database (TSC2):TSC2_00031	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4989+1G>A	7249	TSC2	Pathogenic	45517386	RCV000201203; RCV000042728;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2136873	2136873	NM_000548.4:c.4989+1G>A			Tuberous sclerosis database (TSC2):TSC2_00628	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.4990-7C>T	7249	TSC2	Benign	45457095	RCV000203909; RCV000042737; RCV000125695;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2137857	2137857	NM_000548.4:c.4990-7C>T			Tuberous sclerosis database (TSC2):TSC2_00629	CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5024C>T (p.Pro1675Leu)	7249	TSC2	Pathogenic	45483392	RCV000055436; RCV000013201; RCV000043065;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254	16	2137898	2137898	NM_000548.4:c.5024C>T	NP_000539.2:p.Pro1675Leu		OMIM Allelic Variant:191092.0009,Tuberous sclerosis database (TSC2):TSC2_00033	C0751674 606690 Lymphangiomyomatosis; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.3(TSC2):c.5068+27_5069-47del	7249	TSC2	Benign	137854209	RCV000210536; RCV000055266;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2137969	2138002	NM_000548.3:c.5068+27_5069-47del		NC_000016.9:g.2137969_2138002del34	Tuberous sclerosis database (TSC2):TSC2_00144,Tuberous sclerosis database (TSC2):TSC2_02397	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5106C>A (p.Ile1702=)	7249	TSC2	Benign;Likely benign	45483700	RCV000205066; RCV000043334; RCV000125699; RCV000163466;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374	16	2138086	2138086	NM_000548.4:c.5106C>A	NP_000539.2:p.Ile1702=		Tuberous sclerosis database (TSC2):TSC2_00643	C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5138G>C (p.Arg1713Pro)	7249	TSC2	Likely pathogenic	45517395	RCV000201077; RCV000043198;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138118	2138118	NM_000548.4:c.5138G>C	NP_000539.2:p.Arg1713Pro		Tuberous sclerosis database (TSC2):TSC2_00877	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5160+1G>A	7249	TSC2	Pathogenic	45517399	RCV000201137; RCV000042685;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138141	2138141	NM_000548.4:c.5160+1G>A			Tuberous sclerosis database (TSC2):TSC2_00648	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5170C>T (p.Gln1724Ter)	7249	TSC2	Pathogenic	45472701	RCV000201008; RCV000043217;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138237	2138237	NM_000548.4:c.5170C>T	NP_000539.2:p.Gln1724Ter		Tuberous sclerosis database (TSC2):TSC2_00147	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5227C>T (p.Arg1743Trp)	7249	TSC2	Pathogenic	45517412	RCV000201065; RCV000042731; RCV000190076;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2138294	2138294	NM_000548.4:c.5227C>T	NP_000539.2:p.Arg1743Trp		Tuberous sclerosis database (TSC2):TSC2_00329	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5228G>A (p.Arg1743Gln)	7249	TSC2	Pathogenic	45507199	RCV000201149; RCV000043227; RCV000190035;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN221809	16	2138295	2138295	NM_000548.4:c.5228G>A	NP_000539.2:p.Arg1743Gln		Tuberous sclerosis database (TSC2):TSC2_00096	CN221809 not provided; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5238_5255del18 (p.His1746_Arg1751del)	7249	TSC2	Pathogenic	137854218	RCV000013211; RCV000043162; RCV000055053;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254	16	2138305	2138322	NM_000548.4:c.5238_5255del18	NP_000539.2:p.His1746_Arg1751del		OMIM Allelic Variant:191092.0012,Tuberous sclerosis database (TSC2):TSC2_00149,Tuberous sclerosis database (TSC2):TSC2_00709	C0751674 606690 Lymphangiomyomatosis; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5252_5259+19del27	7249	TSC2	Pathogenic	137854397	RCV000201086; RCV000042626;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138319	2138345	NM_000548.4:c.5252_5259+19del27			Tuberous sclerosis database (TSC2):TSC2_00661	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5259+1delG	7249	TSC2	Pathogenic	137854317	RCV000201172; RCV000042677;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138327	2138327	NM_000548.4:c.5259+1delG			Tuberous sclerosis database (TSC2):TSC2_00554	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr)	7249	TSC2	Benign;Likely benign	9209	RCV000205152; RCV000054870; RCV000034662; RCV000118714; RCV000163420;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2138508	2138508	NM_000548.4:c.5321G>C	NP_000539.2:p.Ser1774Thr		Tuberous sclerosis database (TSC2):TSC2_00891	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser)	7249	TSC2	Benign;Likely benign	45517419	RCV000202756; RCV000054855; RCV000034663; RCV000122242; RCV000130722;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2138546	2138546	NM_000548.4:c.5359G>A	NP_000539.2:p.Gly1787Ser		Tuberous sclerosis database (TSC2):TSC2_00301	C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome
NM_000548.4(TSC2):c.5383C>T (p.Arg1795Cys)	7249	TSC2	Benign;Likely benign;Uncertain significance	45517423	RCV000204788; RCV000054862; RCV000034665; RCV000178483; RCV000055245; RCV000163344; RCV000148917;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C0751674,OMIM:606690,ORPHA:538,SNOMED CT:73017001; MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221561; MedGen:CN221809	16	2138570	2138570	NM_000548.4:c.5383C>T	NP_000539.2:p.Arg1795Cys		Tuberous sclerosis database (TSC2):TSC2_00666	C0027672 Hereditary cancer-predisposing syndrome; C0751674 606690 Lymphangiomyomatosis; CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2; CN221561 Tuberous sclerosis and lymphangiomyomatosis; C0041341 Tuberous scle
NM_000548.4(TSC2):c.5418T>G (p.Phe1806Leu)	7249	TSC2	Likely benign;Uncertain significance	200004126	RCV000206054; RCV000034666; RCV000189954;	N	MedGen:C1860707,OMIM:613254; MedGen:CN169374; MedGen:CN221809	16	2138605	2138605	NM_000548.4:c.5418T>G	NP_000539.2:p.Phe1806Leu		-	CN221809 not provided; CN169374 not specified; C1860707 613254 Tuberous sclerosis 2
NM_000548.4(TSC2):c.*26G>A	7249	TSC2	not provided	13332015	RCV000058883; RCV000042924;	N	MedGen:C0041341, Orphanet:ORPHA805,SNOMED CT:7199000; MedGen:C1860707,OMIM:613254	16	2138637	2138637	NM_000548.4:c.*26G>A			Tuberous sclerosis database (TSC2):TSC2_00241	C1860707 613254 Tuberous sclerosis 2; C0041341 Tuberous sclerosis syndrome