MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

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,ClinVar, CTD

Term ID:

12420

Name:

Tuberous Sclerosis 2

Definition:

Alternative IDs:

OMIM:613254

ParentIDs:

MESH:D014402

TreeNumbers:

C04.445.810/C566021 |C04.651.800/C566021 |C04.700.700/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 |C16.320.700.700/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;
MSeqDR :
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 NAMDC: 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 NAMDC: 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	Seizures NAMDC: Seizures
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 NAMDC: Wolff-Parkinson-White

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
NC_000016.10:g.(?_2039924)_(2093096_?)del	-1	MIR1225;NTHL1;PKD1;TSC2	Pathogenic	-1	RCV001032167\|RCV001386091;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2143097	na	na	-1	-
NC_000016.10:g.(?_2039924)_(2093096_?)dup	-1	MIR1225;NTHL1;PKD1;TSC2	Uncertain significance	-1	RCV001032498\|RCV001318970;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2143097	na	na	-1	-
NC_000016.10:g.(?_2039924)_(2048065_?)dup	-1	NTHL1;TSC2	Uncertain significance	-1	RCV001033362\|RCV001364791;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2098066	na	na	-1	-
NC_000016.10:g.(?_2039924)_(2065645_?)dup	-1	NTHL1;TSC2	Uncertain significance	-1	RCV001031245\|RCV001345089;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2115646	na	na	-1	-
NC_000016.10:g.(?_2039924)_(2082514_?)dup	-1	NTHL1;TSC2	Uncertain significance	-1	RCV001033192\|RCV001364792;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2132515	na	na	-1	-
NC_000016.10:g.(?_2039924)_(2060823_?)dup	-1	NTHL1;TSC2	Uncertain significance	-1	RCV001031073\|RCV001318971;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2110824	na	na	-1	-
NC_000016.9:g.(?_2089925)_(2104451_?)del	-1	NTHL1;TSC2	Pathogenic	-1	RCV001960628\|RCV001960627;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2089925	2104451	na	na	-1	-
NC_000016.9:g.(?_2097700)_(2129439_?)dup	-1	NTHL1;TSC2	Uncertain significance	-1	RCV001916096\|RCV001916097;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2097700	2129439	na	na	-1	-
NM_000488.4(SERPINC1):c.1213C>A (p.Leu405Ile)	462	SERPINC1	not provided	rs483352859	RCV000087280;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173876593	173876593	G	T	1:g.173876593G>T	ClinGen:CA150675	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1154-7C>A	462	SERPINC1	not provided	rs483352858	RCV000087278;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173876659	173876659	G	T	1:g.173876659G>T	ClinGen:CA150673	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1030GAG[1] (p.Glu345del)	462	SERPINC1	not provided	rs483352855	RCV000087277;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173878808	173878810	TCTC	T	1:g.173878808_173878810del	ClinGen:CA150670	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)	462	SERPINC1	Pathogenic	rs483352856	RCV000087276\|RCV001857426;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|Human Phenotype Ontology:HP:0001976,MONDO:MONDO:0013144,MedGen:C0272375,OMIM:613118, Orphanet:82	1	173878827	173878827	C	T	1:g.173878827C>T	ClinGen:CA150667	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.849_853dup (p.Tyr285Ter)	462	SERPINC1	not provided	rs483352857	RCV000087291;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173878989	173878990	T	TACATC	1:g.173878989_173878990insACATC	ClinGen:CA150699	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr)	462	SERPINC1	not provided	rs483352854	RCV000087290;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173880013	173880013	G	T	1:g.173880013G>T	ClinGen:CA150697,UniProtKB:P01008#VAR_007057	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.624+11G>A	462	SERPINC1	not provided	rs483352846	RCV000087289;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173880926	173880926	C	T	1:g.173880926C>T	ClinGen:CA150696	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.598G>C (p.Ala200Pro)	462	SERPINC1	not provided	rs483352853	RCV000087288;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173880963	173880963	C	G	1:g.173880963C>G	ClinGen:CA150693	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.536T>A (p.Phe179Tyr)	462	SERPINC1	not provided	rs483352847	RCV000087287;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881025	173881025	A	T	1:g.173881025A>T	ClinGen:CA150690	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.506C>T (p.Ser169Phe)	462	SERPINC1	not provided	rs483352851	RCV000087286;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881055	173881055	G	A	1:g.173881055G>A	ClinGen:CA150687	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.491G>A (p.Arg164Gln)	462	SERPINC1	not provided	rs483352852	RCV000087285;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881070	173881070	C	T	1:g.173881070C>T	ClinGen:CA150684	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.486_487del (p.Tyr163fs)	462	SERPINC1	not provided	rs483352850	RCV000087284;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881074	173881075	TAG	T	1:g.173881074_173881075del	ClinGen:CA150683	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.458T>A (p.Phe153Tyr)	462	SERPINC1	not provided	rs483352848	RCV000087283;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881103	173881103	A	T	1:g.173881103A>T	ClinGen:CA150680	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.409-24A>C	462	SERPINC1	not provided	rs483352849	RCV000087281;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173881176	173881176	T	G	1:g.173881176T>G	ClinGen:CA150678	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.116_123del (p.Ile39fs)	462	SERPINC1	not provided	rs483352844	RCV000087279;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173883976	173883983	CTGTGCAGA	C	1:g.173883976_173883983del	ClinGen:CA150674	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.42-12G>A	462	SERPINC1	not provided	rs483352845	RCV000087282;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173884069	173884069	C	T	1:g.173884069C>T	ClinGen:CA150679	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.-11G>A	462	SERPINC1	not provided	rs483352843	RCV000087274;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173886408	173886408	C	T	1:g.173886408C>T	ClinGen:CA150665	C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.-35C>T	462	SERPINC1	not provided	rs200460215	RCV000087275;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	1	173886432	173886432	G	A	1:g.173886432G>A	ClinGen:CA150666	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_624055)_(2115656_?)del	7249	TSC2	Pathogenic	-1	RCV000811345;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	624055	2115656	na	na		-
NC_000016.9:g.(?_624055)_(2148005_?)del	7249	TSC2	Pathogenic	-1	RCV001033183;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	624055	2148005	na	na	-1	-
NC_000016.9:g.(?_1203718)_(2185710_?)del	7249	TSC2	Pathogenic	-1	RCV001033886;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	1203718	2185710	na	na	-1	-
NC_000016.10:g.(?_1523498)_(2064447_?)del	7249	TSC2	Pathogenic	-1	RCV001032344;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	1573499	2114448	na	na	-1	-
NC_000016.9:g.(?_2003468)_(2126543_?)del	7249	TSC2	Pathogenic	-1	RCV001949704;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2003468	2126543	na	na	-1	-
NC_000016.9:g.(?_2034220)_(2136892_?)del	7249	TSC2	Pathogenic	-1	RCV001939677;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2034220	2136892	na	na	-1	-
NC_000016.9:g.(?_2089915)_(2110824_?)dup	7249	TSC2	Uncertain significance	-1	RCV000821273;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089915	2110824	na	na		-
NC_000016.9:g.(?_2089915)_(2138621_?)dup	7249	TSC2	Uncertain significance	-1	RCV000795442;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089915	2138621	na	na		-
NC_000016.10:g.(?_2039914)_(2048065_?)dup	7249	TSC2	Uncertain significance	-1	RCV001032335;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089915	2098066	na	na	-1	-
NC_000016.9:g.(?_2089925)_(2114438_?)del	7249	TSC2	Pathogenic	-1	RCV001386093;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2114438	na	na	-1	-
NC_000016.9:g.(?_2089925)_(2098774_?)del	7249	TSC2	Pathogenic	-1	RCV001955370;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2098774	na	na	-1	-
NC_000016.9:g.(?_2089925)_(2098066_?)del	7249	TSC2	Uncertain significance	-1	RCV001900298;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2098066	na	na	-1	-
NC_000016.9:g.(?_2089925)_(2136390_?)dup	7249	TSC2	Uncertain significance	-1	RCV001880693;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2089925	2136390	na	na	-1	-
NC_000016.9:g.(?_2096109)_(2100507_?)del	7249	TSC2	Pathogenic	-1	RCV001942201;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2096109	2100507	na	na	-1	-
NC_000016.9:g.(?_2097990)_(2138611_?)del	7249	TSC2	Pathogenic	-1	RCV001962941;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2097990	2138611	na	na	-1	-
NC_000016.9:g.(?_2098588)_(2138713_?)dup	7249	TSC2	Uncertain significance	-1	RCV000474005;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098588	2138713	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048587)_(2065635_?)del	7249	TSC2	Pathogenic	-1	RCV000459900;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098588	2115636	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098597)_(2150587_?)del	7249	TSC2	Pathogenic	-1	RCV000525326;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2150587	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098597)_(2130398_?)del	7249	TSC2	Pathogenic	-1	RCV000551128;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2130398	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2048773_?)del	7249	TSC2	Pathogenic	-1	RCV000526208;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2098774	na	na	-1	-
NC_000016.9:g.(?_2098597)_(2115656_?)del	7249	TSC2	Pathogenic	-1	RCV000536234;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2115656	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2106697_?)del	7249	TSC2	Pathogenic	-1	RCV000708278;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2156698	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2074415_?)del	7249	TSC2	Pathogenic	-1	RCV000819217;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2124416	na	na		-
NC_000016.10:g.(?_2048596)_(2119398_?)del	7249	TSC2	Pathogenic	-1	RCV000800659;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2169399	na	na		-
NC_000016.10:g.(?_2048596)_(2098004_?)del	7249	TSC2	Pathogenic	-1	RCV001033917;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2148005	na	na	-1	-
NC_000016.10:g.(?_2048596)_(2111891_?)del	7249	TSC2	Pathogenic	-1	RCV001033829;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2161892	na	na	-1	-
NC_000016.10:g.(?_2048596)_(2135709_?)del	7249	TSC2	Pathogenic	-1	RCV001033700;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2185710	na	na	-1	-
NC_000016.9:g.(?_2098597)_(2103473_?)del	7249	TSC2	Pathogenic	-1	RCV001388941;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2103473	na	na	-1	-
NC_000016.9:g.(?_2098597)_(2108894_?)del	7249	TSC2	Pathogenic	-1	RCV001383833;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098597	2108894	na	na	-1	-
NC_000016.9:g.(?_2098611)_(2110820_?)dup	7249	TSC2	Uncertain significance	-1	RCV000644425;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098611	2110820	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048610)_(2088616_?)del	7249	TSC2	Pathogenic	-1	RCV000644422;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098611	2138617	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098617)_(2110824_?)dup	7249	TSC2	Uncertain significance	-1	RCV001364793;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098617	2110824	na	na	-1	-
NM_000548.5(TSC2):c.1A>G (p.Met1Val)	7249	TSC2	Uncertain significance	-1	RCV001867345;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098617	2098617	A	G	2098617	-
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)	7249	TSC2	Uncertain significance	rs2084667702	RCV001299467;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098618	2098618	T	C	2098618	-
NM_000548.5(TSC2):c.2T>A (p.Met1Lys)	7249	TSC2	Uncertain significance	-1	RCV001891847;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098618	2098618	T	A	2098618	-
NM_000548.5(TSC2):c.4G>T (p.Ala2Ser)	7249	TSC2	Uncertain significance	-1	RCV001894812;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098620	2098620	G	T	2098620	-
NM_000548.5(TSC2):c.5C>T (p.Ala2Val)	7249	TSC2	Uncertain significance	rs2084668501	RCV001057284;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098621	2098621	C	T	16:g.2098621C>T	-
NM_000548.5(TSC2):c.9A>G (p.Lys3=)	7249	TSC2	Likely benign	-1	RCV002208367;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098625	2098625	A	G	2098625	-
NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)	7249	TSC2	Uncertain significance	rs147206318	RCV000815336;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098627	2098627	C	T	16:g.2098627C>T	-
NM_000548.5(TSC2):c.13del (p.Thr5fs)	7249	TSC2	Pathogenic	rs2084669441	RCV001039905;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098628	2098628	CA	C	16:g.2098628_2098628del	-
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala)	7249	TSC2	Uncertain significance	rs45517093	RCV000042993\|RCV000644262;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098629	2098629	A	G	16:g.2098629A>G	ClinGen:CA014750,Tuberous sclerosis database (TSC2):TSC2_00932	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.16dup (p.Ser6fs)	7249	TSC2	Pathogenic	-1	RCV002049578;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098630	2098631	C	CA	2098630	-
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)	7249	TSC2	Uncertain significance	rs1555494544	RCV000644162;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098632	2098632	A	G	NC_000016.9:g.2098632A>G	ClinGen:CA394300569	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.16A>T (p.Ser6Cys)	7249	TSC2	Uncertain significance	rs1555494544	RCV001062131;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098632	2098632	A	T	16:g.2098632A>T	-
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)	7249	TSC2	Conflicting interpretations of pathogenicity	rs758239066	RCV000213113\|RCV000537615;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098633	2098633	G	A	16:g.2098633G>A	ClinGen:CA033570	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.17G>C (p.Ser6Thr)	7249	TSC2	Uncertain significance	-1	RCV001969155;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098633	2098633	G	C	2098633	-
NM_000548.5(TSC2):c.20_21del (p.Lys7fs)	7249	TSC2	Pathogenic	-1	RCV001951282;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098635	2098636	CAA	C	2098634	-
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)	7249	TSC2	Benign/Likely benign	rs137854215	RCV000042450\|RCV000466851\|RCV000574466\|RCV001719782;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2098636	2098636	A	G	16:g.2098636A>G	ClinGen:CA016732,Tuberous sclerosis database (TSC2):TSC2_01044	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.20A>C (p.Lys7Thr)	7249	TSC2	Uncertain significance	rs137854215	RCV001213412;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098636	2098636	A	C	16:g.2098636A>C	-
NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)	7249	TSC2	Uncertain significance	rs1596233815	RCV000798636;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098638	2098638	G	A	16:g.2098638G>A	-
NM_000548.5(TSC2):c.22del (p.Asp8fs)	7249	TSC2	Pathogenic	-1	RCV001974986;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098638	2098638	AG	A	2098637	-
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)	7249	TSC2	Pathogenic	rs397515228	RCV000055535\|RCV001248431;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098642	2098642	C	G	16:g.2098642C>G	ClinGen:CA017918,Tuberous sclerosis database (TSC2):TSC2_01143	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.27A>G (p.Ser9=)	7249	TSC2	Likely benign	rs1555494555	RCV000535024;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098643	2098643	A	G	NC_000016.9:g.2098643A>G	ClinGen:CA492954118	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098645)_(2130379_2131595)del	7249	TSC2	Pathogenic	-1	RCV000449513;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098645	2131595	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.29G>T (p.Gly10Val)	7249	TSC2	Uncertain significance	rs2084671697	RCV001207076;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098645	2098645	G	T	16:g.2098645G>T	-
NM_000548.5(TSC2):c.30C>T (p.Gly10=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs876659726	RCV000223166\|RCV001323370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098646	2098646	C	T	16:g.2098646C>T	ClinGen:CA10579869	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.30C>G (p.Gly10=)	7249	TSC2	Likely benign	rs876659726	RCV000871568\|RCV001409876;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098646	2098646	C	G	16:g.2098646C>G	-
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=)	7249	TSC2	Benign/Likely benign	rs1064794201	RCV000485758\|RCV001018649\|RCV001797735;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098647	2098649	TTG	CTA	NC_000016.9:g.2098647_2098649delinsCTA	ClinGen:CA16620083	CN169374 not specified;
NM_000548.5(TSC2):c.31T>C (p.Leu11=)	7249	TSC2	Benign/Likely benign	rs978517404	RCV000644369\|RCV001019156\|RCV001550289;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2098647	2098647	T	C	NC_000016.9:g.2098647T>C	ClinGen:CA276768580	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.33G>A (p.Leu11=)	7249	TSC2	Likely benign	rs1190907341	RCV000969814\|RCV001437194;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098649	2098649	G	A	16:g.2098649G>A	-
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)	7249	TSC2	Pathogenic	rs45512692	RCV000013202\|RCV000042837;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805	16	2098650	2098650	A	T	16:g.2098650A>T	ClinGen:CA019229,Tuberous sclerosis database (TSC2):TSC2_00047,OMIM:191092.0003	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.37_39del (p.Glu13del)	7249	TSC2	Uncertain significance	rs778509364	RCV000792358;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098651	2098653	AAGG	A	16:g.2098651_2098653del	-
NM_000548.5(TSC2):c.36G>A (p.Lys12=)	7249	TSC2	Likely benign	rs1596233951	RCV000930139;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098652	2098652	G	A	16:g.2098652G>A	-
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)	7249	TSC2	Uncertain significance	rs1555494586	RCV000562925\|RCV001853810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098653	2098653	G	A	16:g.2098653G>A	ClinGen:CA394300845	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)	7249	TSC2	Uncertain significance	-1	RCV001369543;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098655	2098655	G	T	2098655	-
NM_000548.5(TSC2):c.41del (p.Lys14fs)	7249	TSC2	Pathogenic	rs2084674122	RCV001214238;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098656	2098656	GA	G	16:g.2098656_2098656del	-
NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)	7249	TSC2	Uncertain significance	-1	RCV001901149;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098657	2098657	A	G	2098657	-
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)	7249	TSC2	Pathogenic	rs397515020	RCV000201207;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098658	2098659	G	GT	16:g.2098658_2098659insT	ClinGen:CA279123	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)	7249	TSC2	Pathogenic	rs397514958	RCV000055146\|RCV001250502;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098659	2098665	GTTTAAGA	G	16:g.2098659_2098665del	ClinGen:CA020645,Tuberous sclerosis database (TSC2):TSC2_02410	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.45_53del (p.Phe15_Ile17del)	7249	TSC2	Uncertain significance	-1	RCV001937492;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098660	2098668	TTTAAGATTC	T	2098659	-
NM_000548.5(TSC2):c.48G>C (p.Lys16Asn)	7249	TSC2	Uncertain significance	rs2084674938	RCV001324147;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098664	2098664	G	C	2098664	-
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)	7249	TSC2	Uncertain significance	rs1274194851	RCV001023388\|RCV001337454;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098665	2098665	A	G	16:g.2098665A>G	-
NM_000548.5(TSC2):c.51T>C (p.Ile17=)	7249	TSC2	Likely benign	-1	RCV002151492;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098667	2098667	T	C	2098667	-
NM_000548.5(TSC2):c.54G>T (p.Leu18=)	7249	TSC2	Likely benign	-1	RCV001475033;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098670	2098670	G	T	2098670	-
NM_000548.5(TSC2):c.54G>C (p.Leu18=)	7249	TSC2	Likely benign	-1	RCV002157984;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098670	2098670	G	C	2098670	-
NM_000548.5(TSC2):c.54G>A (p.Leu18=)	7249	TSC2	Likely benign	-1	RCV002207118;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098670	2098670	G	A	2098670	-
NM_000548.5(TSC2):c.55T>C (p.Leu19=)	7249	TSC2	Likely benign	-1	RCV001422305;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098671	2098671	T	C	2098671	-
NM_000548.5(TSC2):c.59G>T (p.Gly20Val)	7249	TSC2	Uncertain significance	-1	RCV001947221;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098675	2098675	G	T	2098675	-
NM_000548.5(TSC2):c.60A>G (p.Gly20=)	7249	TSC2	Likely benign	rs1060504108	RCV000462795\|RCV001506612;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098676	2098676	A	G	NC_000016.9:g.2098676A>G	ClinGen:CA16615025	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.60A>C (p.Gly20=)	7249	TSC2	Likely benign	rs1060504108	RCV000891699;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098676	2098676	A	C	16:g.2098676A>C	-
NM_000548.5(TSC2):c.61C>A (p.Leu21Met)	7249	TSC2	Uncertain significance	rs2084676177	RCV001315122;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098677	2098677	C	A	2098677	-
NM_000548.5(TSC2):c.65G>C (p.Gly22Ala)	7249	TSC2	Uncertain significance	rs2084676497	RCV001320097;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098681	2098681	G	C	2098681	-
NM_000548.5(TSC2):c.70C>A (p.Pro24Thr)	7249	TSC2	Uncertain significance	rs1567380585	RCV000690087;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098686	2098686	C	A	NC_000016.9:g.2098686C>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.71C>T (p.Pro24Leu)	7249	TSC2	Uncertain significance	rs868467487	RCV001205363;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098687	2098687	C	T	16:g.2098687C>T	-
NM_000548.5(TSC2):c.71C>A (p.Pro24Gln)	7249	TSC2	Uncertain significance	rs868467487	RCV001348642;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098687	2098687	C	A	2098687	-
NM_000548.5(TSC2):c.72G>A (p.Pro24=)	7249	TSC2	Likely benign	rs754121475	RCV000932387\|RCV001414056;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098688	2098688	G	A	16:g.2098688G>A	-
NM_000548.5(TSC2):c.72G>C (p.Pro24=)	7249	TSC2	Likely benign	-1	RCV001448135;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098688	2098688	G	C	2098688	-
NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)	7249	TSC2	Uncertain significance	rs759867905	RCV000644165;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098690	2098690	G	A	NC_000016.9:g.2098690G>A	ClinGen:CA056318	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.75G>A (p.Arg25=)	7249	TSC2	Likely benign	-1	RCV001489134;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098691	2098691	G	A	2098691	-
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)	7249	TSC2	Uncertain significance	rs1555494636	RCV000520283\|RCV000556475;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098693	2098693	C	T	NC_000016.9:g.2098693C>T	ClinGen:CA394301263
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)	7249	TSC2	Uncertain significance	rs2084677815	RCV001118862\|RCV001882385;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098695	2098695	A	G	16:g.2098695A>G	-
NM_000548.5(TSC2):c.82C>A (p.Pro28Thr)	7249	TSC2	Uncertain significance	rs200480606	RCV001224456;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098698	2098698	C	A	16:g.2098698C>A	-
NM_000548.5(TSC2):c.83C>A (p.Pro28His)	7249	TSC2	Benign/Likely benign	rs1057522105	RCV000428159\|RCV000468568;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098699	2098699	C	A	16:g.2098699C>A	ClinGen:CA16607134	CN169374 not specified;
NM_000548.5(TSC2):c.86G>A (p.Arg29Lys)	7249	TSC2	Uncertain significance	rs1567380695	RCV000693713;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098702	2098702	G	A	NC_000016.9:g.2098702G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.86G>C (p.Arg29Thr)	7249	TSC2	Uncertain significance	rs1567380695	RCV001215302;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098702	2098702	G	C	16:g.2098702G>C	-
NM_000548.5(TSC2):c.87G>T (p.Arg29Ser)	7249	TSC2	Uncertain significance	rs1010489256	RCV001313020;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098703	2098703	G	T	2098703	-
NM_000548.5(TSC2):c.87G>A (p.Arg29=)	7249	TSC2	Likely benign	-1	RCV002156886;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098703	2098703	G	A	2098703	-
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)	7249	TSC2	Uncertain significance	rs1425163522	RCV000699032;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098705	2098705	C	G	NC_000016.9:g.2098705C>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.92C>T (p.Ala31Val)	7249	TSC2	Uncertain significance	rs1567380741	RCV000700683;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098708	2098708	C	T	NC_000016.9:g.2098708C>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)	7249	TSC2	Uncertain significance	rs2084679567	RCV001247049;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098710	2098710	G	A	16:g.2098710G>A	-
NM_000548.5(TSC2):c.95A>G (p.Glu32Gly)	7249	TSC2	Uncertain significance	rs1482573368	RCV001070398;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098711	2098711	A	G	16:g.2098711A>G	-
NM_000548.5(TSC2):c.96G>A (p.Glu32=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1567380772	RCV000719918\|RCV000867393\|RCV001731910;	N	MedGen:C2711754\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2098712	2098712	G	A	NC_000016.9:g.2098712G>A	-
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)	7249	TSC2	Uncertain significance	rs370230541	RCV000563255\|RCV000644191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098713	2098713	G	A	16:g.2098713G>A	ClinGen:CA056868	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)	7249	TSC2	Benign	rs1352220583	RCV000644123;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098714	2098714	G	A	16:g.2098714G>A	ClinGen:CA394301452	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.100A>G (p.Lys34Glu)	7249	TSC2	Uncertain significance	rs2084680573	RCV001322979;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098716	2098716	A	G	2098716	-
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)	7249	TSC2	Benign/Likely benign	rs777988634	RCV000189880\|RCV000475609\|RCV001009700;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2098717	2098717	A	C	NC_000016.9:g.2098717A>C	ClinGen:CA027975	CN169374 not specified;
NM_000548.5(TSC2):c.105_106del (p.Gln35fs)	7249	TSC2	Pathogenic	rs2084681207	RCV001068366;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098720	2098721	CAG	C	16:g.2098720_2098721del	-
NM_000548.5(TSC2):c.105G>A (p.Gln35=)	7249	TSC2	Likely benign	-1	RCV001485554;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098721	2098721	G	A	2098721	-
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)	7249	TSC2	Conflicting interpretations of pathogenicity	rs757113497	RCV000189881\|RCV000467572\|RCV000717924;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C2711754	16	2098722	2098722	A	G	16:g.2098722A>G	ClinGen:CA028094	CN169374 not specified;
NM_000548.5(TSC2):c.107C>T (p.Thr36Met)	7249	TSC2	Uncertain significance	-1	RCV001371341;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098723	2098723	C	T	2098723	-
NM_000548.5(TSC2):c.108G>A (p.Thr36=)	7249	TSC2	Benign/Likely benign	rs781075483	RCV000472571\|RCV001683509;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2098724	2098724	G	A	NC_000016.9:g.2098724G>A	ClinGen:CA028121	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.113T>C (p.Phe38Ser)	7249	TSC2	Uncertain significance	rs745604417	RCV001306471;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098729	2098729	T	C	2098729	-
NM_000548.5(TSC2):c.113T>A (p.Phe38Tyr)	7249	TSC2	Uncertain significance	-1	RCV001367176;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098729	2098729	T	A	2098729	-
NM_000548.5(TSC2):c.114T>C (p.Phe38=)	7249	TSC2	Likely benign	rs1060504110	RCV000465604\|RCV001429563;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098730	2098730	T	C	NC_000016.9:g.2098730T>C	ClinGen:CA16614887	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.114_115insC (p.Ile39fs)	7249	TSC2	Pathogenic	rs2084683129	RCV001049073;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098730	2098731	T	TC	16:g.2098730_2098731insC	-
NM_000548.5(TSC2):c.116TCA[1] (p.Ile40del)	7249	TSC2	Uncertain significance	-1	RCV001960128;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098731	2098733	TATC	T	2098730	-
NM_000548.5(TSC2):c.116T>C (p.Ile39Thr)	7249	TSC2	Uncertain significance	rs184437554	RCV000468085;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098732	2098732	T	C	NC_000016.9:g.2098732T>C	ClinGen:CA16614890	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.117C>A (p.Ile39=)	7249	TSC2	Likely benign	-1	RCV002204052;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098733	2098733	C	A	2098733	-
NM_000548.5(TSC2):c.118A>G (p.Ile40Val)	7249	TSC2	Uncertain significance	rs2084683845	RCV001062049;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098734	2098734	A	G	16:g.2098734A>G	-
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)	7249	TSC2	Uncertain significance	rs1596234558	RCV000811607;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098737	2098737	A	T	16:g.2098737A>T	-
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)	7249	TSC2	Uncertain significance	-1	RCV001914808;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098737	2098737	A	G	2098737	-
NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)	7249	TSC2	Uncertain significance	rs1385450866	RCV001347824;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098738	2098738	C	T	2098738	-
NM_000548.5(TSC2):c.123C>T (p.Thr41=)	7249	TSC2	Benign/Likely benign	rs1060504100	RCV000464170\|RCV000573695;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2098739	2098739	C	T	NC_000016.9:g.2098739C>T	ClinGen:CA16615026	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.125C>T (p.Ala42Val)	7249	TSC2	Uncertain significance	-1	RCV001969899;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098741	2098741	C	T	2098741	-
NM_000548.5(TSC2):c.126G>A (p.Ala42=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs886043548	RCV000374977\|RCV000562725\|RCV001083832;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098742	2098742	G	A	16:g.2098742G>A	ClinGen:CA10605643	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.126G>C (p.Ala42=)	7249	TSC2	Likely benign	-1	RCV002109524;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098742	2098742	G	C	2098742	-
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)	7249	TSC2	Uncertain significance	rs2084685904	RCV001071459\|RCV001811642;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2098743	2098743	G	A	16:g.2098743G>A	-
NM_000548.5(TSC2):c.129A>G (p.Glu43=)	7249	TSC2	Likely benign	-1	RCV002156053;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098745	2098745	A	G	2098745	-
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)	7249	TSC2	Uncertain significance	rs1190102918	RCV000644150\|RCV001010984;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2098747	2098747	T	C	16:g.2098747T>C	ClinGen:CA394301782	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)	7249	TSC2	Pathogenic	rs137854360	RCV000042406\|RCV000484317\|RCV000554425;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098748	2098751	TACTG	T	NC_000016.9:g.2098749_2098752del	ClinGen:CA014408,Tuberous sclerosis database (TSC2):TSC2_00341
NM_000548.5(TSC2):c.132A>G (p.Ile44Met)	7249	TSC2	Uncertain significance	rs796053508	RCV000190066\|RCV000644127;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098748	2098748	A	G	NC_000016.9:g.2098748A>G	ClinGen:CA319579
NM_000548.5(TSC2):c.133C>T (p.Leu45=)	7249	TSC2	Benign/Likely benign	rs1555494707	RCV000533001\|RCV001011119;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2098749	2098749	C	T	16:g.2098749C>T	ClinGen:CA492954621	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)	7249	TSC2	Uncertain significance	rs1555494707	RCV000792194;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098749	2098749	C	G	16:g.2098749C>G	-
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)	7249	TSC2	Uncertain significance	rs1383831944	RCV000543191;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098750	2098750	T	G	NC_000016.9:g.2098750T>G	ClinGen:CA394301803	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)	7249	TSC2	Uncertain significance	rs1383831944	RCV001223108;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098750	2098750	T	C	16:g.2098750T>C	-
NM_000548.5(TSC2):c.138_138+1del	7249	TSC2	Pathogenic	rs137854117	RCV000042937\|RCV000413387\|RCV001056624;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098751	2098752	TGA	T	16:g.2098751_2098752del	ClinGen:CA262847,Tuberous sclerosis database (TSC2):TSC2_00796	CN517202 not provided;
NM_000548.5(TSC2):c.136_138+1del	7249	TSC2	Pathogenic	rs137854117	RCV000546941;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098751	2098754	TGAGA	T	16:g.2098751_2098754del	ClinGen:CA658658339	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.135G>T (p.Leu45=)	7249	TSC2	Likely benign	rs1555494715	RCV000644388;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098751	2098751	G	T	16:g.2098751G>T	ClinGen:CA492954638	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.135G>C (p.Leu45=)	7249	TSC2	Likely benign	-1	RCV002166955;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098751	2098751	G	C	2098751	-
NM_000548.5(TSC2):c.138+6_138+9del	7249	TSC2	Uncertain significance	rs2084688881	RCV001232901;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098753	2098756	AGAGT	A	16:g.2098753_2098756del	-
NM_000548.5(TSC2):c.138+2T>C	7249	TSC2	Pathogenic	rs137854226	RCV000042410\|RCV000518195\|RCV001852874;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098756	2098756	T	C	16:g.2098756T>C	ClinGen:CA014657,Tuberous sclerosis database (TSC2):TSC2_01099	CN517202 not provided;
NM_000548.5(TSC2):c.138+4A>G	7249	TSC2	Uncertain significance	-1	RCV001360135;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098758	2098758	A	G	2098758	-
NM_000548.5(TSC2):c.138+5G>A	7249	TSC2	Pathogenic	rs45481400	RCV000043461\|RCV001380069\|RCV001843466;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2098759	2098759	G	A	16:g.2098759G>A	ClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.138+5G>C	7249	TSC2	Pathogenic	-1	RCV001381931;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098759	2098759	G	C	2098759	-
NM_000548.5(TSC2):c.138+6T>C	7249	TSC2	Uncertain significance	rs1252109762	RCV000806644;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098760	2098760	T	C	16:g.2098760T>C	-
NM_000548.5(TSC2):c.138+7G>A	7249	TSC2	Likely benign	rs1596234900	RCV000977155\|RCV001429252;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098761	2098761	G	A	16:g.2098761G>A	-
NM_000548.5(TSC2):c.138+10C>G	7249	TSC2	Uncertain significance	rs748932830	RCV000460123;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098764	2098764	C	G	NC_000016.9:g.2098764C>G	ClinGen:CA029771	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.138+13C>T	7249	TSC2	Likely benign	-1	RCV002220105;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098767	2098767	C	T	2098767	-
NM_000548.5(TSC2):c.138+14C>G	7249	TSC2	Benign	rs201204330	RCV000125643\|RCV001118863\|RCV001797628;	N	MedGen:CN169374\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098768	2098768	C	G	NC_000016.9:g.2098768C>G	ClinGen:CA014640	CN169374 not specified;
NM_000548.5(TSC2):c.138+14C>T	7249	TSC2	Likely benign	-1	RCV002132717;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098768	2098768	C	T	2098768	-
NM_000548.5(TSC2):c.138+15T>A	7249	TSC2	Likely benign	-1	RCV002204508;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098769	2098769	T	A	2098769	-
NM_000548.5(TSC2):c.138+16G>A	7249	TSC2	Likely benign	rs1555494744	RCV000604776\|RCV002064233;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098770	2098770	G	A	16:g.2098770G>A	ClinGen:CA658798464	CN169374 not specified;
NM_000548.5(TSC2):c.138+18G>A	7249	TSC2	Likely benign	-1	RCV002101300;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098772	2098772	G	A	2098772	-
NM_000548.5(TSC2):c.138+19T>G	7249	TSC2	Likely benign	-1	RCV002181311;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098773	2098773	T	G	2098773	-
NM_000548.5(TSC2):c.138+19T>C	7249	TSC2	Likely benign	-1	RCV002174461;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098773	2098773	T	C	2098773	-
NM_000548.5(TSC2):c.138+20C>G	7249	TSC2	Benign	rs45517092	RCV000043023\|RCV000125644\|RCV001528276\|RCV002054852;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098774	2098774	C	G	16:g.2098774C>G	ClinGen:CA014650,Tuberous sclerosis database (TSC2):TSC2_00342	CN169374 not specified;
NM_000548.5(TSC2):c.138+20C>T	7249	TSC2	Likely benign	-1	RCV002167126;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2098774	2098774	C	T	2098774	-
NM_000548.5(TSC2):c.139-17_139-15del	7249	TSC2	Likely benign	-1	RCV002103163;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100379	2100381	TTTC	T	2100378	-
NC_000016.9:g.(?_2100381)_(2100507_?)del	7249	TSC2	Pathogenic	-1	RCV000554791;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100381	2100507	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2100381)_(2115656_?)dup	7249	TSC2	Pathogenic	-1	RCV000708080;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100381	2115656	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-17C>T	7249	TSC2	Likely benign	-1	RCV002210115;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100384	2100384	C	T	2100384	-
NM_000548.5(TSC2):c.139-15T>G	7249	TSC2	Likely benign	rs563094714	RCV000600709\|RCV002066812;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100386	2100386	T	G	16:g.2100386T>G	ClinGen:CA029945	CN169374 not specified;
NM_000548.5(TSC2):c.139-15T>A	7249	TSC2	Likely benign	-1	RCV002184934;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100386	2100386	T	A	2100386	-
NM_000548.5(TSC2):c.139-14T>G	7249	TSC2	Likely benign	-1	RCV002114259;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100387	2100387	T	G	2100387	-
NC_000016.10:g.(?_2050390)_(2050496_?)del	7249	TSC2	Pathogenic	-1	RCV000810670;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100391	2100497	na	na		-
NM_000548.5(TSC2):c.139-10C>T	7249	TSC2	Likely benign	rs996641937	RCV000877088;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100391	2100391	C	T	16:g.2100391C>T	-
NC_000016.10:g.(?_2050390)_(2088620_?)dup	7249	TSC2	Uncertain significance	-1	RCV001033634;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100391	2138621	na	na	-1	-
NC_000016.9:g.(?_2100391)_(2100497_?)dup	7249	TSC2	Uncertain significance	-1	RCV001303986;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100391	2100497	na	na	-1	-
NM_000548.5(TSC2):c.139-9_139-8delinsCT	7249	TSC2	Likely benign	-1	RCV001434360;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100392	2100393	TC	CT	2100392	-
NM_000548.5(TSC2):c.139-8C>T	7249	TSC2	Likely benign	-1	RCV001397706;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100393	2100393	C	T	2100393	-
NM_000548.5(TSC2):c.139-8C>G	7249	TSC2	Likely benign	-1	RCV002145422;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100393	2100393	C	G	2100393	-
NM_000548.5(TSC2):c.139-6C>G	7249	TSC2	Uncertain significance	rs778516569	RCV000466793;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100395	2100395	C	G	NC_000016.9:g.2100395C>G	ClinGen:CA16614605	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-6C>T	7249	TSC2	Benign/Likely benign	rs778516569	RCV000457202\|RCV001577665\|RCV001770360;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2100395	2100395	C	T	NC_000016.9:g.2100395C>T	ClinGen:CA030153	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-4C>G	7249	TSC2	Likely benign	-1	RCV001407090;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100397	2100397	C	G	2100397	-
NM_000548.5(TSC2):c.139-4C>T	7249	TSC2	Likely benign	-1	RCV002117239;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100397	2100397	C	T	2100397	-
NM_000548.5(TSC2):c.139-2A>G	7249	TSC2	Pathogenic	rs2084954667	RCV001069910;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100399	2100399	A	G	16:g.2100399A>G	-
NM_000548.5(TSC2):c.139-1G>A	7249	TSC2	Pathogenic	rs1567386603	RCV000702898;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100400	2100400	G	A	NC_000016.9:g.2100400G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.141A>G (p.Glu47=)	7249	TSC2	Likely benign	-1	RCV002212209;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100403	2100403	A	G	2100403	-
NM_000548.5(TSC2):c.142C>G (p.Leu48Val)	7249	TSC2	Uncertain significance	-1	RCV002043372;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100404	2100404	C	G	2100404	-
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn)	7249	TSC2	Uncertain significance	rs2084956276	RCV001329368;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100408	2100408	G	A	2100408	-
NM_000548.5(TSC2):c.147C>T (p.Ser49=)	7249	TSC2	Uncertain significance	rs1555495692	RCV000544845;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100409	2100409	C	T	NC_000016.9:g.2100409C>T	ClinGen:CA492954855	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.148A>G (p.Met50Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs140618379	RCV000726243\|RCV000243799\|RCV001086583\|RCV001011846;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2100410	2100410	A	G	NC_000016.9:g.2100410A>G	ClinGen:CA030828	CN169374 not specified;
NM_000548.5(TSC2):c.149T>C (p.Met50Thr)	7249	TSC2	Uncertain significance	rs1060500955	RCV000460225;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100411	2100411	T	C	NC_000016.9:g.2100411T>C	ClinGen:CA16614895	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.151G>C (p.Glu51Gln)	7249	TSC2	Uncertain significance	rs910205065	RCV001039280;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100413	2100413	G	C	16:g.2100413G>C	-
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)	7249	TSC2	Conflicting interpretations of pathogenicity	rs772617064	RCV000468262\|RCV000575026\|RCV001705072;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2100414	2100414	A	C	16:g.2100414A>C	ClinGen:CA030988	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.153A>G (p.Glu51=)	7249	TSC2	Likely benign	rs746366461	RCV000609890\|RCV002066527;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100415	2100415	A	G	16:g.2100415A>G	ClinGen:CA492954857	CN169374 not specified;
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp)	7249	TSC2	Uncertain significance	rs746366461	RCV000699718;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100415	2100415	A	C	NC_000016.9:g.2100415A>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)	7249	TSC2	Uncertain significance	rs746366461	RCV001011988\|RCV001860687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100415	2100415	A	T	16:g.2100415A>T	-
NM_000548.5(TSC2):c.154T>C (p.Cys52Arg)	7249	TSC2	Uncertain significance	rs2084958377	RCV001302635;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100416	2100416	T	C	2100416	-
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)	7249	TSC2	Uncertain significance	rs1394176023	RCV001057035;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100422	2100422	C	T	16:g.2100422C>T	-
NM_000548.5(TSC2):c.160C>G (p.Leu54Val)	7249	TSC2	Uncertain significance	-1	RCV002013141;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100422	2100422	C	G	2100422	-
NM_000548.5(TSC2):c.163A>C (p.Asn55His)	7249	TSC2	Uncertain significance	rs2084958940	RCV001050079;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100425	2100425	A	C	16:g.2100425A>C	-
NM_000548.5(TSC2):c.164A>G (p.Asn55Ser)	7249	TSC2	Uncertain significance	rs1555495709	RCV000644247;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100426	2100426	A	G	NC_000016.9:g.2100426A>G	ClinGen:CA394303217	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.165C>T (p.Asn55=)	7249	TSC2	Benign/Likely benign	rs1596245687	RCV001012551\|RCV001499710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100427	2100427	C	T	16:g.2100427C>T	-
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)	7249	TSC2	Benign/Likely benign	rs144165984	RCV000148918\|RCV000226143\|RCV000571093\|RCV001704075;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2100429	2100429	A	G	16:g.2100429A>G	ClinGen:CA015434	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.167A>T (p.Asn56Ile)	7249	TSC2	Uncertain significance	rs144165984	RCV001213199;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100429	2100429	A	T	16:g.2100429A>T	-
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)	7249	TSC2	Uncertain significance	rs1430159201	RCV000644128\|RCV001012687;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2100431	2100431	C	T	16:g.2100431C>T	ClinGen:CA394303257	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.170G>A (p.Arg57His)	7249	TSC2	Uncertain significance	rs397514949	RCV000055135\|RCV000472366;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100432	2100432	G	A	16:g.2100432G>A	ClinGen:CA015456,Tuberous sclerosis database (TSC2):TSC2_01144	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.172A>G (p.Ile58Val)	7249	TSC2	Uncertain significance	rs2084960700	RCV001035627;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100434	2100434	A	G	16:g.2100434A>G	-
NM_000548.5(TSC2):c.174C>A (p.Ile58=)	7249	TSC2	Likely benign	-1	RCV001425029;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100436	2100436	C	A	2100436	-
NM_000548.5(TSC2):c.174C>T (p.Ile58=)	7249	TSC2	Likely benign	-1	RCV002129482;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100436	2100436	C	T	2100436	-
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)	7249	TSC2	Uncertain significance	rs1015282988	RCV000815994\|RCV001249157\|RCV001013003;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2100437	2100437	C	T	16:g.2100437C>T	-
NM_000548.5(TSC2):c.175C>A (p.Arg59=)	7249	TSC2	Uncertain significance	-1	RCV001928611;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100437	2100437	C	A	2100437	-
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)	7249	TSC2	Uncertain significance	rs1161261925	RCV000568734\|RCV001298117;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100438	2100438	G	A	16:g.2100438G>A	ClinGen:CA394303300	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.176G>C (p.Arg59Pro)	7249	TSC2	Uncertain significance	rs1161261925	RCV000644163;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100438	2100438	G	C	16:g.2100438G>C	ClinGen:CA394303302	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.178A>G (p.Met60Val)	7249	TSC2	Uncertain significance	rs1053960780	RCV001059775;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100440	2100440	A	G	16:g.2100440A>G	-
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)	7249	TSC2	Uncertain significance	-1	RCV002009515;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100440	2100440	A	T	2100440	-
NM_000548.5(TSC2):c.181A>T (p.Ile61Leu)	7249	TSC2	Uncertain significance	rs2084961446	RCV001041377;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100443	2100443	A	T	16:g.2100443A>T	-
NM_000548.5(TSC2):c.181A>G (p.Ile61Val)	7249	TSC2	Uncertain significance	rs2084961446	RCV001212093;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100443	2100443	A	G	16:g.2100443A>G	-
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)	7249	TSC2	Uncertain significance	rs2084961841	RCV001304127;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100445	2100445	A	G	2100445	-
NM_000548.5(TSC2):c.188A>T (p.Gln63Leu)	7249	TSC2	Uncertain significance	-1	RCV001978581;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100450	2100450	A	T	2100450	-
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	7249	TSC2	Uncertain significance	rs397515081	RCV000055320\|RCV000644085\|RCV001118864\|RCV001815178;	N	MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2100452	2100452	A	G	16:g.2100452A>G	ClinGen:CA016191,Tuberous sclerosis database (TSC2):TSC2_02103	C1510586 Autism spectrum disorder;
NM_000548.5(TSC2):c.190A>T (p.Ile64Phe)	7249	TSC2	Uncertain significance	rs397515081	RCV000799165;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100452	2100452	A	T	16:g.2100452A>T	-
NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)	7249	TSC2	Uncertain significance	rs1060500965	RCV000459248;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100455	2100455	T	C	NC_000016.9:g.2100455T>C	ClinGen:CA16614896	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.194G>A (p.Cys65Tyr)	7249	TSC2	Uncertain significance	-1	RCV001362238;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100456	2100456	G	A	2100456	-
NM_000548.5(TSC2):c.195T>C (p.Cys65=)	7249	TSC2	Likely benign	-1	RCV001415134;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100457	2100457	T	C	2100457	-
NM_000548.5(TSC2):c.198A>G (p.Glu66=)	7249	TSC2	Likely benign	rs1596245865	RCV000976269\|RCV001484782;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100460	2100460	A	G	16:g.2100460A>G	-
NM_000548.5(TSC2):c.199G>A (p.Val67Ile)	7249	TSC2	Uncertain significance	rs774506901	RCV000644157;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100461	2100461	G	A	NC_000016.9:g.2100461G>A	ClinGen:CA035477	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.199G>T (p.Val67Phe)	7249	TSC2	Uncertain significance	rs774506901	RCV001042241;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100461	2100461	G	T	16:g.2100461G>T	-
NM_000548.5(TSC2):c.201C>T (p.Val67=)	7249	TSC2	Benign/Likely benign	rs45460096	RCV000043366\|RCV000465495\|RCV001014071\|RCV001091436;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2100463	2100463	C	T	16:g.2100463C>T	ClinGen:CA016432,Tuberous sclerosis database (TSC2):TSC2_00344	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.201_202delinsTC (p.Ala68Pro)	7249	TSC2	Uncertain significance	rs1567387058	RCV000692507;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100463	2100464	CG	TC	NC_000016.9:g.2100463_2100464delinsTC	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.201C>A (p.Val67=)	7249	TSC2	Likely benign	-1	RCV001471377;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100463	2100463	C	A	2100463	-
NM_000548.5(TSC2):c.201C>G (p.Val67=)	7249	TSC2	Likely benign	-1	RCV002128640;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100463	2100463	C	G	2100463	-
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro)	7249	TSC2	Uncertain significance	rs767626323	RCV000691567;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100464	2100464	G	C	NC_000016.9:g.2100464G>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)	7249	TSC2	Uncertain significance	rs767626323	RCV001241744;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100464	2100464	G	A	16:g.2100464G>A	-
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)	7249	TSC2	Uncertain significance	rs45517095	RCV000644149;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100467	2100467	A	G	NC_000016.9:g.2100467A>G	ClinGen:CA036103	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.209C>G (p.Thr70Ser)	7249	TSC2	Uncertain significance	rs1013995962	RCV000820820;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100471	2100471	C	G	16:g.2100471C>G	-
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)	7249	TSC2	Uncertain significance	rs1013995962	RCV000999527\|RCV001235307;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100471	2100471	C	A	16:g.2100471C>A	-
NM_000548.5(TSC2):c.210C>G (p.Thr70=)	7249	TSC2	Likely benign	-1	RCV001472965;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100472	2100472	C	G	2100472	-
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)	7249	TSC2	Conflicting interpretations of pathogenicity	rs766200310	RCV000190013\|RCV001079014\|RCV001770139;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2100475	2100475	G	T	NC_000016.9:g.2100475G>T	ClinGen:CA036834
NM_000548.5(TSC2):c.214A>G (p.Lys72Glu)	7249	TSC2	Uncertain significance	rs2084967199	RCV001314218;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100476	2100476	A	G	2100476	-
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)	7249	TSC2	Uncertain significance	rs1489623582	RCV000549108\|RCV001014482;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2100477	2100477	A	G	NC_000016.9:g.2100477A>G	ClinGen:CA394303587	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.216A>G (p.Lys72=)	7249	TSC2	Likely benign	-1	RCV001459944;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100478	2100478	A	G	2100478	-
NM_000548.5(TSC2):c.216A>C (p.Lys72Asn)	7249	TSC2	Uncertain significance	-1	RCV002050196;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100478	2100478	A	C	2100478	-
NM_000548.5(TSC2):c.217T>G (p.Phe73Val)	7249	TSC2	Uncertain significance	rs1596245977	RCV001042005;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100479	2100479	T	G	16:g.2100479T>G	-
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)	7249	TSC2	Uncertain significance	rs2084968438	RCV001350626;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100483	2100483	A	G	2100483	-
NM_000548.5(TSC2):c.222A>G (p.Glu74=)	7249	TSC2	Likely benign	-1	RCV001496535;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100484	2100484	A	G	2100484	-
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)	7249	TSC2	Benign/Likely benign	rs145470784	RCV000148919\|RCV000460205\|RCV000561674\|RCV001086061;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100485	2100485	G	A	16:g.2100485G>A	ClinGen:CA017070	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.223G>C (p.Glu75Gln)	7249	TSC2	Uncertain significance	rs145470784	RCV001351266;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100485	2100485	G	C	2100485	-
NM_000548.5(TSC2):c.225+1G>A	7249	TSC2	Likely pathogenic	rs1567387207	RCV000768348\|RCV001378178;	N	MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994\|MONDO:MONDO:0013199,MedGen:C186	16	2100488	2100488	G	A	NC_000016.9:g.2100488G>A	-
NM_000548.5(TSC2):c.225+2T>C	7249	TSC2	Uncertain significance	rs397515105	RCV001035357;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100489	2100489	T	C	16:g.2100489T>C	-
NM_000548.5(TSC2):c.225+3A>G	7249	TSC2	Uncertain significance	rs1060500963	RCV000470560;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100490	2100490	A	G	NC_000016.9:g.2100490A>G	ClinGen:CA16614607	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+4G>A	7249	TSC2	Benign	rs201901739	RCV000473509;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100491	2100491	G	A	NC_000016.9:g.2100491G>A	ClinGen:CA037914	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+5G>T	7249	TSC2	Conflicting interpretations of pathogenicity	rs778371172	RCV000465873\|RCV001014932;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2100492	2100492	G	T	NC_000016.9:g.2100492G>T	ClinGen:CA037940	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+7T>C	7249	TSC2	Likely benign	rs1596246066	RCV000936286;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100494	2100494	T	C	16:g.2100494T>C	-
NM_000548.5(TSC2):c.225+10T>A	7249	TSC2	Likely benign	-1	RCV001486390;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100497	2100497	T	A	2100497	-
NM_000548.5(TSC2):c.225+12C>A	7249	TSC2	Likely benign	rs886038352	RCV000244526\|RCV002057393;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100499	2100499	C	A	NC_000016.9:g.2100499C>A	ClinGen:CA10587220	CN169374 not specified;
NM_000548.5(TSC2):c.225+12C>T	7249	TSC2	Likely benign	-1	RCV002136980;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100499	2100499	C	T	2100499	-
NM_000548.5(TSC2):c.225+16T>A	7249	TSC2	Likely benign	-1	RCV002086424;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100503	2100503	T	A	2100503	-
NM_000548.5(TSC2):c.225+19G>A	7249	TSC2	Likely benign	rs980875984	RCV000601128\|RCV002063279;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100506	2100506	G	A	16:g.2100506G>A	ClinGen:CA276769513	CN169374 not specified;
NM_000548.5(TSC2):c.225+19G>C	7249	TSC2	Likely benign	-1	RCV002180032;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100506	2100506	G	C	2100506	-
NM_000548.5(TSC2):c.225+20C>G	7249	TSC2	Uncertain significance	-1	RCV002001825;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2100507	2100507	C	G	2100507	-
NC_000016.10:g.(?_2053322)_(2092208_?)del	7249	TSC2	Pathogenic	-1	RCV000708500;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103323	2142209	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2053322)_(2057459_?)del	7249	TSC2	Pathogenic	-1	RCV000817938;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103323	2107460	na	na		-
NC_000016.9:g.(?_2103323)_(2185710_?)del	7249	TSC2	Pathogenic	-1	RCV001381343;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103323	2185710	na	na	-1	-
NC_000016.9:g.(?_2103323)_(2115656_?)del	7249	TSC2	Pathogenic	-1	RCV001951426;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103323	2115656	na	na	-1	-
NM_000548.5(TSC2):c.226-20G>A	7249	TSC2	Likely benign	-1	RCV002163368;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103323	2103323	G	A	2103323	-
NM_000548.5(TSC2):c.226-19T>G	7249	TSC2	Likely benign	-1	RCV002191587;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103324	2103324	T	G	2103324	-
NM_000548.5(TSC2):c.226-18C>T	7249	TSC2	Likely benign	-1	RCV002104828;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103325	2103325	C	T	2103325	-
NM_000548.5(TSC2):c.226-17C>T	7249	TSC2	Likely benign	-1	RCV002092032;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103326	2103326	C	T	2103326	-
NM_000548.5(TSC2):c.226-15C>T	7249	TSC2	Likely benign	-1	RCV002120232;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103328	2103328	C	T	2103328	-
NM_000548.5(TSC2):c.226-13C>T	7249	TSC2	Benign/Likely benign	rs886038353	RCV000249272\|RCV001797698\|RCV001711658;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103330	2103330	C	T	16:g.2103330C>T	ClinGen:CA10587221	CN169374 not specified;
NM_000548.5(TSC2):c.226-8G>A	7249	TSC2	Uncertain significance	rs2085356308	RCV001319983;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103335	2103335	G	A	2103335	-
NM_000548.5(TSC2):c.226-7G>C	7249	TSC2	Likely benign	rs1555496912	RCV000644412;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103336	2103336	G	C	16:g.2103336G>C	ClinGen:CA658798466	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2103337)_(2110820_?)del	7249	TSC2	Pathogenic	-1	RCV001381342;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103337	2110820	na	na	-1	-
NM_000548.5(TSC2):c.226-5G>A	7249	TSC2	Likely benign	rs1596258779	RCV000870288;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103338	2103338	G	A	16:g.2103338G>A	-
NM_000548.5(TSC2):c.226-5G>C	7249	TSC2	Likely benign	rs1596258779	RCV000921363\|RCV001495322;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103338	2103338	G	C	16:g.2103338G>C	-
NM_000548.5(TSC2):c.226-2A>G	7249	TSC2	Pathogenic	rs45517096	RCV000042457\|RCV000201113;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103341	2103341	A	G	16:g.2103341A>G	ClinGen:CA017124,Tuberous sclerosis database (TSC2):TSC2_00798	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.226-1G>A	7249	TSC2	Likely pathogenic	rs397515134	RCV000055397\|RCV001379463;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103342	2103342	G	A	16:g.2103342G>A	ClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs574779350	RCV000367424\|RCV000470663\|RCV000565361\|RCV001721240;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2103343	2103343	C	T	NC_000016.9:g.2103343C>T	ClinGen:CA038111	C0027672 Hereditary cancer-predisposing syndrome;
NC_000016.10:g.(?_2053342)_(2060813_?)del	7249	TSC2	Pathogenic	-1	RCV000466727;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103343	2110814	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.228C>T (p.His76=)	7249	TSC2	Benign/Likely benign	rs45517097	RCV000042459\|RCV000163371\|RCV000186671\|RCV000205829\|RCV001531834;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103345	2103345	C	T	16:g.2103345C>T	ClinGen:CA017149,Tuberous sclerosis database (TSC2):TSC2_00035	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)	7249	TSC2	Uncertain significance	rs777459404	RCV000699574\|RCV001756222;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103346	2103346	G	A	NC_000016.9:g.2103346G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)	7249	TSC2	Uncertain significance	rs777459404	RCV001243533;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103346	2103346	G	T	16:g.2103346G>T	-
NM_000548.5(TSC2):c.231A>C (p.Ala77=)	7249	TSC2	Benign/Likely benign	-1	RCV001438643\|RCV001664878;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103348	2103348	A	C	2103348	-
NM_000548.5(TSC2):c.231A>G (p.Ala77=)	7249	TSC2	Likely benign	-1	RCV002154118;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103348	2103348	A	G	2103348	-
NM_000548.5(TSC2):c.233T>C (p.Val78Ala)	7249	TSC2	Uncertain significance	rs1163221525	RCV000796282;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103350	2103350	T	C	16:g.2103350T>C	-
NM_000548.5(TSC2):c.234G>A (p.Val78=)	7249	TSC2	Likely benign	rs1347487177	RCV000930778;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103351	2103351	G	A	16:g.2103351G>A	-
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys)	7249	TSC2	Uncertain significance	-1	RCV001890261;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103352	2103352	G	A	2103352	-
NM_000548.5(TSC2):c.236A>T (p.Glu79Val)	7249	TSC2	Uncertain significance	rs2085359439	RCV001238358;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103353	2103353	A	T	16:g.2103353A>T	-
NM_000548.5(TSC2):c.237A>T (p.Glu79Asp)	7249	TSC2	Uncertain significance	rs1567394781	RCV000685553;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103354	2103354	A	T	NC_000016.9:g.2103354A>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)	7249	TSC2	Uncertain significance	rs2085359793	RCV001212999;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103355	2103355	G	A	16:g.2103355G>A	-
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)	7249	TSC2	Uncertain significance	rs142580483	RCV000812994;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103356	2103356	C	T	16:g.2103356C>T	-
NM_000548.5(TSC2):c.243C>G (p.Leu81=)	7249	TSC2	Likely benign	-1	RCV001399420;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103360	2103360	C	G	2103360	-
NM_000548.5(TSC2):c.244T>C (p.Trp82Arg)	7249	TSC2	Uncertain significance	rs878854083	RCV000229782;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103361	2103361	T	C	NC_000016.9:g.2103361T>C	ClinGen:CA10583278	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)	7249	TSC2	Pathogenic	rs397514933	RCV000055114\|RCV001853087;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103362	2103362	G	A	16:g.2103362G>A	ClinGen:CA017462,Tuberous sclerosis database (TSC2):TSC2_01145	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)	7249	TSC2	Pathogenic	rs1567394860	RCV000704652;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103363	2103363	G	A	NC_000016.9:g.2103363G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.249G>A (p.Lys83=)	7249	TSC2	Likely benign	-1	RCV001393254;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103366	2103366	G	A	2103366	-
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu)	7249	TSC2	Uncertain significance	-1	RCV001977371;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103368	2103368	C	A	2103368	-
NM_000548.5(TSC2):c.252G>A (p.Ala84=)	7249	TSC2	Likely benign	rs1316543957	RCV000945273;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103369	2103369	G	A	16:g.2103369G>A	-
NM_000548.5(TSC2):c.255C>T (p.Val85=)	7249	TSC2	Benign/Likely benign	rs45517098	RCV000042832\|RCV000125703\|RCV000163465\|RCV000203895\|RCV001531835;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103372	2103372	C	T	16:g.2103372C>T	ClinGen:CA017667,Tuberous sclerosis database (TSC2):TSC2_00074	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)	7249	TSC2	Benign/Likely benign	rs1190158836	RCV000696894\|RCV001564684;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103373	2103373	G	A	16:g.2103373G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1369594860	RCV000701640\|RCV001016002\|RCV001580538\|RCV001771989;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2103374	2103374	C	T	NC_000016.9:g.2103374C>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.258G>A (p.Ala86=)	7249	TSC2	Benign/Likely benign	rs397514912	RCV000055087\|RCV001016033\|RCV000426888\|RCV000474570;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103375	2103375	G	A	16:g.2103375G>A	ClinGen:CA017702,Tuberous sclerosis database (TSC2):TSC2_01992	CN169374 not specified;
NM_000548.5(TSC2):c.258G>C (p.Ala86=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397514912	RCV000375405\|RCV000870004\|RCV001016034;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103375	2103375	G	C	NC_000016.9:g.2103375G>C	ClinGen:CA10648011	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.261T>C (p.Asp87=)	7249	TSC2	Likely benign	rs1555496967	RCV000644341;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103378	2103378	T	C	16:g.2103378T>C	ClinGen:CA492955199	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)	7249	TSC2	Uncertain significance	rs1555496967	RCV001068441;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103378	2103378	T	A	16:g.2103378T>A	-
NM_000548.5(TSC2):c.262C>T (p.Leu88=)	7249	TSC2	Benign/Likely benign	rs45485999	RCV000042475\|RCV000125704\|RCV000229062\|RCV000567644\|RCV001811307;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2103379	2103379	C	T	16:g.2103379C>T	ClinGen:CA017731,Tuberous sclerosis database (TSC2):TSC2_00298	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.264G>A (p.Leu88=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1466279830	RCV000940368\|RCV001569812;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103381	2103381	G	A	16:g.2103381G>A	-
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)	7249	TSC2	Pathogenic	rs45517099	RCV000043003\|RCV000381969\|RCV000491603\|RCV000707342;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103385	2103385	C	T	NC_000016.9:g.2103385C>T	ClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036
NM_000548.5(TSC2):c.270G>A (p.Gln90=)	7249	TSC2	Benign/Likely benign	rs779310889	RCV000538146\|RCV001016247\|RCV001120818\|RCV001545071;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2103387	2103387	G	A	NC_000016.9:g.2103387G>A	ClinGen:CA040998	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)	7249	TSC2	Uncertain significance	rs1555496979	RCV000547536;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103388	2103388	C	A	NC_000016.9:g.2103388C>A	ClinGen:CA394305662	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)	7249	TSC2	Uncertain significance	rs1555496979	RCV000644211;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103388	2103388	C	T	NC_000016.9:g.2103388C>T	ClinGen:CA394305664	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)	7249	TSC2	Benign	rs45482691	RCV000042484\|RCV000122218\|RCV000163281\|RCV000473293\|RCV001529022;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103389	2103389	C	T	16:g.2103389C>T	ClinGen:CA017971,Tuberous sclerosis database (TSC2):TSC2_00346	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.273G>A (p.Pro91=)	7249	TSC2	Benign/Likely benign	rs772296140	RCV000469924\|RCV000840690\|RCV001016455;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103390	2103390	G	A	NC_000016.9:g.2103390G>A	ClinGen:CA041112	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.273G>T (p.Pro91=)	7249	TSC2	Likely benign	-1	RCV002185365;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103390	2103390	G	T	2103390	-
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)	7249	TSC2	Benign/Likely benign	rs137853994	RCV000043383\|RCV000122217\|RCV000130758\|RCV000989412\|RCV001703939;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103392	2103392	A	T	16:g.2103392A>T	ClinGen:CA018098,Tuberous sclerosis database (TSC2):TSC2_00963	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.276G>A (p.Glu92=)	7249	TSC2	Likely benign	-1	RCV001431981;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103393	2103393	G	A	2103393	-
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp)	7249	TSC2	Uncertain significance	rs760688660	RCV000557507;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103394	2103394	C	T	NC_000016.9:g.2103394C>T	ClinGen:CA041936	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)	7249	TSC2	Uncertain significance	rs1222477746	RCV000546307\|RCV000575589;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103395	2103395	G	A	16:g.2103395G>A	ClinGen:CA394305714	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs200045926	RCV000471856\|RCV001797088;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103398	2103398	C	T	NC_000016.9:g.2103398C>T	ClinGen:CA042049	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.282G>A (p.Pro94=)	7249	TSC2	Benign/Likely benign	rs145624233	RCV000225943\|RCV000433616\|RCV001016711;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103399	2103399	G	A	16:g.2103399G>A	ClinGen:CA042087	CN169374 not specified;
NM_000548.5(TSC2):c.282G>T (p.Pro94=)	7249	TSC2	Likely benign	-1	RCV002203874;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103399	2103399	G	T	2103399	-
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)	7249	TSC2	Uncertain significance	rs2085369170	RCV001299057;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103401	2103401	T	G	2103401	-
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro)	7249	TSC2	Uncertain significance	-1	RCV002048909;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103401	2103401	T	C	2103401	-
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys)	7249	TSC2	Uncertain significance	-1	RCV001366693;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103403	2103403	G	A	2103403	-
NM_000548.5(TSC2):c.287A>G (p.Glu96Gly)	7249	TSC2	Uncertain significance	-1	RCV002039815;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103404	2103404	A	G	2103404	-
NM_000548.5(TSC2):c.289G>C (p.Ala97Pro)	7249	TSC2	Uncertain significance	rs1446873736	RCV000800654;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103406	2103406	G	C	16:g.2103406G>C	-
NM_000548.5(TSC2):c.289G>A (p.Ala97Thr)	7249	TSC2	Uncertain significance	rs1446873736	RCV001324139;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103406	2103406	G	A	2103406	-
NM_000548.5(TSC2):c.291C>G (p.Ala97=)	7249	TSC2	Benign/Likely benign	rs137933794	RCV000252756\|RCV000229470\|RCV000565061\|RCV000378878;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805	16	2103408	2103408	C	G	NC_000016.9:g.2103408C>G	ClinGen:CA042768	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)	7249	TSC2	Conflicting interpretations of pathogenicity	rs372321790	RCV000055443\|RCV000573567\|RCV000989413\|RCV001555447;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103409	2103409	C	T	16:g.2103409C>T	ClinGen:CA018319,Tuberous sclerosis database (TSC2):TSC2_01996	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.292C>A (p.Arg98=)	7249	TSC2	Benign/Likely benign	rs372321790	RCV000477405\|RCV000561644;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103409	2103409	C	A	NC_000016.9:g.2103409C>A	ClinGen:CA16614608	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)	7249	TSC2	Uncertain significance	rs1478204355	RCV000796897\|RCV001840733;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103410	2103410	G	A	16:g.2103410G>A	-
NM_000548.5(TSC2):c.293G>C (p.Arg98Pro)	7249	TSC2	Uncertain significance	-1	RCV001988255;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103410	2103410	G	C	2103410	-
NM_000548.5(TSC2):c.294G>C (p.Arg98=)	7249	TSC2	Likely benign	-1	RCV002182060;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103411	2103411	G	C	2103411	-
NM_000548.5(TSC2):c.297C>T (p.His99=)	7249	TSC2	Benign/Likely benign	rs752498350	RCV000529244\|RCV001017755\|RCV001120819\|RCV001171692;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2103414	2103414	C	T	NC_000016.9:g.2103414C>T	ClinGen:CA043607	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)	7249	TSC2	Uncertain significance	rs369314296	RCV001222030;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103415	2103415	G	A	16:g.2103415G>A	-
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs375824753	RCV000575476\|RCV000594514\|RCV000761927\|RCV001086235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103416	2103416	C	T	NC_000016.9:g.2103416C>T	ClinGen:CA043693	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.300G>A (p.Ala100=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517100	RCV000043438\|RCV000163268\|RCV000251650\|RCV000724097\|RCV001082842;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103417	2103417	G	A	16:g.2103417G>A	ClinGen:CA018399,Tuberous sclerosis database (TSC2):TSC2_00038	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.300G>T (p.Ala100=)	7249	TSC2	Likely benign	-1	RCV002165501;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103417	2103417	G	T	2103417	-
NM_000548.5(TSC2):c.301G>A (p.Val101Met)	7249	TSC2	Uncertain significance	rs878854089	RCV000227019\|RCV000569350;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2103418	2103418	G	A	NC_000016.9:g.2103418G>A	ClinGen:CA10583279	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)	7249	TSC2	Uncertain significance	rs878854089	RCV000822093;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103418	2103418	G	T	16:g.2103418G>T	-
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)	7249	TSC2	Uncertain significance	rs2085372909	RCV001314345;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103419	2103419	T	C	2103419	-
NM_000548.5(TSC2):c.307G>A (p.Ala103Thr)	7249	TSC2	Uncertain significance	-1	RCV001926996;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103424	2103424	G	A	2103424	-
NM_000548.5(TSC2):c.308C>T (p.Ala103Val)	7249	TSC2	Uncertain significance	rs1555497043	RCV000536490;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103425	2103425	C	T	NC_000016.9:g.2103425C>T	ClinGen:CA394305903	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.308C>G (p.Ala103Gly)	7249	TSC2	Uncertain significance	-1	RCV001883905;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103425	2103425	C	G	2103425	-
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)	7249	TSC2	Uncertain significance	rs1596259554	RCV000820374;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103427	2103427	C	G	16:g.2103427C>G	-
NM_000548.5(TSC2):c.310C>T (p.Leu104=)	7249	TSC2	Likely benign	-1	RCV001438589;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103427	2103427	C	T	2103427	-
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)	7249	TSC2	Likely pathogenic	rs2085373985	RCV001065161;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103428	2103428	T	C	16:g.2103428T>C	-
NM_000548.5(TSC2):c.317A>C (p.Lys106Thr)	7249	TSC2	Uncertain significance	rs1567395686	RCV000699028;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103434	2103434	A	C	NC_000016.9:g.2103434A>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.317A>G (p.Lys106Arg)	7249	TSC2	Uncertain significance	-1	RCV001978573;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103434	2103434	A	G	2103434	-
NM_000548.5(TSC2):c.318G>A (p.Lys106=)	7249	TSC2	Uncertain significance	rs756890243	RCV001327449;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103435	2103435	G	A	2103435	-
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)	7249	TSC2	Uncertain significance	rs2085374926	RCV001223559;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103437	2103437	C	A	16:g.2103437C>A	-
NM_000548.5(TSC2):c.320C>T (p.Ala107Val)	7249	TSC2	Uncertain significance	-1	RCV001918143;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103437	2103437	C	T	2103437	-
NM_000548.5(TSC2):c.322dup (p.Ile108fs)	7249	TSC2	Pathogenic	rs2085375504	RCV001061746;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103438	2103439	C	CA	16:g.2103438_2103439insA	-
NM_000548.5(TSC2):c.321C>T (p.Ala107=)	7249	TSC2	Likely benign	-1	RCV001450560;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103438	2103438	C	T	2103438	-
NM_000548.5(TSC2):c.322A>G (p.Ile108Val)	7249	TSC2	Uncertain significance	rs955754399	RCV000538970;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103439	2103439	A	G	NC_000016.9:g.2103439A>G	ClinGen:CA276771132	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.323T>C (p.Ile108Thr)	7249	TSC2	Uncertain significance	rs1233900284	RCV001222001;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103440	2103440	T	C	16:g.2103440T>C	-
NM_000548.5(TSC2):c.324C>T (p.Ile108=)	7249	TSC2	Benign/Likely benign	rs973500815	RCV000841200\|RCV001081831;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103441	2103441	C	T	NC_000016.9:g.2103441C>T	ClinGen:CA16614687	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.325G>A (p.Val109Met)	7249	TSC2	Conflicting interpretations of pathogenicity	rs369932305	RCV000189956\|RCV000233520;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103442	2103442	G	A	NC_000016.9:g.2103442G>A	ClinGen:CA045030	CN169374 not specified;
NM_000548.5(TSC2):c.327G>A (p.Val109=)	7249	TSC2	Benign/Likely benign	rs754348511	RCV000472726\|RCV000573177\|RCV001584181;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2103444	2103444	G	A	NC_000016.9:g.2103444G>A	ClinGen:CA045117	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.329A>G (p.Gln110Arg)	7249	TSC2	Uncertain significance	rs2085376654	RCV001221880;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103446	2103446	A	G	16:g.2103446A>G	-
NM_000548.5(TSC2):c.329A>C (p.Gln110Pro)	7249	TSC2	Uncertain significance	-1	RCV002047336;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103446	2103446	A	C	2103446	-
NM_000548.5(TSC2):c.330G>A (p.Gln110=)	7249	TSC2	Likely benign	-1	RCV001441836;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103447	2103447	G	A	2103447	-
NM_000548.5(TSC2):c.335_336+14del	7249	TSC2	Likely pathogenic	rs1596259720	RCV000813207;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103448	2103463	GGGGCAGGTAAGGCCCA	G	16:g.2103448_2103463del	-
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)	7249	TSC2	Uncertain significance	rs1266039524	RCV001019984\|RCV001242066;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103448	2103448	G	T	16:g.2103448G>T	-
NM_000548.5(TSC2):c.333G>C (p.Gly111=)	7249	TSC2	Likely benign	rs1198874350	RCV000551772;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103450	2103450	G	C	NC_000016.9:g.2103450G>C	ClinGen:CA492955282	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.333G>A (p.Gly111=)	7249	TSC2	Likely benign	-1	RCV002148481;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103450	2103450	G	A	2103450	-
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)	7249	TSC2	Uncertain significance	rs397515308	RCV001020055\|RCV001040529;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103451	2103451	C	G	16:g.2103451C>G	-
NM_000548.5(TSC2):c.336+1G>A	7249	TSC2	Pathogenic	rs45517102	RCV000043330\|RCV000476030;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103454	2103454	G	A	16:g.2103454G>A	ClinGen:CA018966,Tuberous sclerosis database (TSC2):TSC2_00040	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.336+1G>C	7249	TSC2	Pathogenic	rs45517102	RCV000644166;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103454	2103454	G	C	NC_000016.9:g.2103454G>C	ClinGen:CA394306095	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.336+5G>C	7249	TSC2	Pathogenic/Likely pathogenic	rs1057523242	RCV000817980\|RCV001698247;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2103458	2103458	G	C	NC_000016.9:g.2103458G>C	ClinGen:CA16607137	CN169374 not specified;
NM_000548.5(TSC2):c.336+6G>A	7249	TSC2	Uncertain significance	rs2085379244	RCV001221391;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103459	2103459	G	A	16:g.2103459G>A	-
NM_000548.5(TSC2):c.336+7C>A	7249	TSC2	Likely benign	rs1199855368	RCV000938633;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103460	2103460	C	A	16:g.2103460C>A	-
NM_000548.5(TSC2):c.336+8C>T	7249	TSC2	Benign/Likely benign	rs779174834	RCV000435849\|RCV000919718\|RCV001797721;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103461	2103461	C	T	16:g.2103461C>T	ClinGen:CA046185	CN169374 not specified;
NM_000548.5(TSC2):c.336+10A>G	7249	TSC2	Benign	rs587778005	RCV000119927\|RCV000230864;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103463	2103463	A	G	16:g.2103463A>G	ClinGen:CA018957	CN169374 not specified;
NM_000548.5(TSC2):c.336+11G>T	7249	TSC2	Likely benign	-1	RCV002218658;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103464	2103464	G	T	2103464	-
NM_000548.5(TSC2):c.336+14C>T	7249	TSC2	Conflicting interpretations of pathogenicity	rs570065416	RCV000610912\|RCV001797761\|RCV001770540;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2103467	2103467	C	T	16:g.2103467C>T	ClinGen:CA045804	CN169374 not specified;
NM_000548.5(TSC2):c.336+15G>C	7249	TSC2	Likely benign	-1	RCV002081553;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103468	2103468	G	C	2103468	-
NM_000548.5(TSC2):c.336+15G>A	7249	TSC2	Likely benign	-1	RCV002186519;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103468	2103468	G	A	2103468	-
NM_000548.5(TSC2):c.336+17C>T	7249	TSC2	Likely benign	-1	RCV002123764;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103470	2103470	C	T	2103470	-
NM_000548.5(TSC2):c.336+18G>A	7249	TSC2	Likely benign	-1	RCV002192324;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103471	2103471	G	A	2103471	-
NM_000548.5(TSC2):c.336+18G>T	7249	TSC2	Likely benign	-1	RCV002159452;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103471	2103471	G	T	2103471	-
NM_000548.5(TSC2):c.336+19C>A	7249	TSC2	Likely benign	-1	RCV002174460;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2103472	2103472	C	A	2103472	-
NM_000548.5(TSC2):c.337-20C>G	7249	TSC2	Likely benign	-1	RCV002123145;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104277	2104277	C	G	2104277	-
NM_000548.5(TSC2):c.337-18T>C	7249	TSC2	Likely benign	-1	RCV002101012;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104279	2104279	T	C	2104279	-
NM_000548.5(TSC2):c.337-17G>A	7249	TSC2	Likely benign	-1	RCV002156240;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104280	2104280	G	A	2104280	-
NM_000548.5(TSC2):c.337-16_337-15delinsCC	7249	TSC2	Likely benign	-1	RCV002117285;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104281	2104282	TG	CC	2104281	-
NM_000548.5(TSC2):c.337-15G>C	7249	TSC2	Likely benign	-1	RCV002124096;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104282	2104282	G	C	2104282	-
NM_000548.5(TSC2):c.337-12T>A	7249	TSC2	Likely benign	-1	RCV002101968;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104285	2104285	T	A	2104285	-
NM_000548.5(TSC2):c.337-6C>G	7249	TSC2	Likely benign	rs760230326	RCV000954019\|RCV001433175;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104291	2104291	C	G	16:g.2104291C>G	-
NM_000548.5(TSC2):c.337-3T>C	7249	TSC2	Conflicting interpretations of pathogenicity	rs770515822	RCV000525098\|RCV001020124;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104294	2104294	T	C	NC_000016.9:g.2104294T>C	ClinGen:CA276771490	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.337-1G>A	7249	TSC2	Pathogenic	rs45517105	RCV000055243\|RCV000553650\|RCV000518372;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2104296	2104296	G	A	16:g.2104296G>A	ClinGen:CA019014,Tuberous sclerosis database (TSC2):TSC2_02412	CN517202 not provided;
NM_000548.5(TSC2):c.339C>T (p.Gly113=)	7249	TSC2	Benign/Likely benign	rs368451664	RCV000189957\|RCV000644068;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104299	2104299	C	T	16:g.2104299C>T	ClinGen:CA046718	CN169374 not specified;
NM_000548.5(TSC2):c.339C>A (p.Gly113=)	7249	TSC2	Likely benign	-1	RCV002206932;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104299	2104299	C	A	2104299	-
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397515021	RCV000055573\|RCV001020231\|RCV000227736;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104300	2104300	G	A	16:g.2104300G>A	ClinGen:CA019111,Tuberous sclerosis database (TSC2):TSC2_02051	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)	7249	TSC2	Uncertain significance	rs1555497542	RCV000560861;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104302	2104302	G	C	NC_000016.9:g.2104302G>C	ClinGen:CA394306402	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)	7249	TSC2	Uncertain significance	rs1256047792	RCV000802000;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104303	2104303	C	T	16:g.2104303C>T	-
NM_000548.5(TSC2):c.344G>A (p.Arg115His)	7249	TSC2	Conflicting interpretations of pathogenicity	rs764529584	RCV000544848\|RCV001020329;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104304	2104304	G	A	NC_000016.9:g.2104304G>A	ClinGen:CA046888	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)	7249	TSC2	Uncertain significance	rs764529584	RCV001020330\|RCV001860982;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104304	2104304	G	C	16:g.2104304G>C	-
NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)	7249	TSC2	Uncertain significance	rs764529584	RCV001020331\|RCV001323822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104304	2104304	G	T	16:g.2104304G>T	-
NM_000548.5(TSC2):c.347del (p.Leu116fs)	7249	TSC2	Pathogenic	rs1567398983	RCV000702867;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104305	2104305	GT	G	16:g.2104305_2104305del	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.346T>C (p.Leu116=)	7249	TSC2	Likely benign	rs751923657	RCV000557250;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104306	2104306	T	C	16:g.2104306T>C	ClinGen:CA046984	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352dup (p.Val118fs)	7249	TSC2	Pathogenic	rs137853982	RCV000042521\|RCV000190065\|RCV001852879;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104307	2104308	T	TG	16:g.2104307_2104308insG	ClinGen:CA019247,Tuberous sclerosis database (TSC2):TSC2_00965	CN517202 not provided;
NM_000548.5(TSC2):c.352del (p.Val118fs)	7249	TSC2	Pathogenic	-1	RCV002035369;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104308	2104308	TG	T	2104307	-
NM_000548.5(TSC2):c.348G>A (p.Leu116=)	7249	TSC2	Likely benign	-1	RCV002212845;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104308	2104308	G	A	2104308	-
NM_000548.5(TSC2):c.351G>A (p.Gly117=)	7249	TSC2	Likely benign	rs1555497554	RCV000644321;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104311	2104311	G	A	NC_000016.9:g.2104311G>A	ClinGen:CA492955345	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)	7249	TSC2	Uncertain significance	rs878854094	RCV000231912\|RCV001020537;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104312	2104312	G	T	NC_000016.9:g.2104312G>T	ClinGen:CA10583280	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352G>A (p.Val118Ile)	7249	TSC2	Uncertain significance	rs878854094	RCV000694884;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104312	2104312	G	A	16:g.2104312G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.354C>G (p.Val118=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs762228318	RCV000338308\|RCV001020576\|RCV001089150;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104314	2104314	C	G	16:g.2104314C>G	ClinGen:CA047411	CN169374 not specified;
NM_000548.5(TSC2):c.354C>T (p.Val118=)	7249	TSC2	Likely benign	rs762228318	RCV000907549\|RCV001487569;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104314	2104314	C	T	16:g.2104314C>T	-
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)	7249	TSC2	Uncertain significance	rs1596264734	RCV001020610\|RCV001235216\|RCV001766849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2104315	2104315	C	T	16:g.2104315C>T	-
NM_000548.5(TSC2):c.356T>G (p.Leu119Arg)	7249	TSC2	Uncertain significance	rs1477548902	RCV000528192;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104316	2104316	T	G	16:g.2104316T>G	ClinGen:CA394306574	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.357C>G (p.Leu119=)	7249	TSC2	Benign/Likely benign	rs1168763677	RCV000569747\|RCV000934760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104317	2104317	C	G	16:g.2104317C>G	ClinGen:CA492955352	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.357C>T (p.Leu119=)	7249	TSC2	Likely benign	rs1168763677	RCV000937615\|RCV001431019;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104317	2104317	C	T	16:g.2104317C>T	-
NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCT	7249	TSC2	Pathogenic	-1	RCV001905607;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104317	2104318	C	CAGAGCCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGC	2104317	-
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)	7249	TSC2	Pathogenic	rs1131691602	RCV000494472\|RCV000689112;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104318	2104318	A	T	NC_000016.9:g.2104318A>T	ClinGen:CA394306592
NM_000548.5(TSC2):c.359G>A (p.Arg120Lys)	7249	TSC2	Uncertain significance	-1	RCV002000998;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104319	2104319	G	A	2104319	-
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)	7249	TSC2	Conflicting interpretations of pathogenicity	rs767755750	RCV000546990\|RCV000575342;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104322	2104322	C	G	NC_000016.9:g.2104322C>G	ClinGen:CA047888	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.364del (p.Leu122fs)	7249	TSC2	Pathogenic	rs2085499583	RCV001194683;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104322	2104322	GC	G	16:g.2104322_2104322del	-
NM_000548.5(TSC2):c.362C>T (p.Ala121Val)	7249	TSC2	Uncertain significance	rs767755750	RCV001315794;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104322	2104322	C	T	2104322	-
NM_000548.5(TSC2):c.363C>T (p.Ala121=)	7249	TSC2	Benign/Likely benign	rs45517106	RCV000042790\|RCV000163844\|RCV000472305\|RCV001531836;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2104323	2104323	C	T	16:g.2104323C>T	ClinGen:CA019425,Tuberous sclerosis database (TSC2):TSC2_00351	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)	7249	TSC2	Uncertain significance	rs1175373447	RCV000821089;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104324	2104324	C	T	16:g.2104324C>T	-
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)	7249	TSC2	Uncertain significance	rs1342475885	RCV000644181;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104325	2104327	CTCT	C	16:g.2104325_2104327del	ClinGen:CA620373021	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.365T>A (p.Leu122His)	7249	TSC2	Uncertain significance	rs756263581	RCV000822531;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104325	2104325	T	A	16:g.2104325T>A	-
NM_000548.5(TSC2):c.366C>T (p.Leu122=)	7249	TSC2	Benign/Likely benign	rs1397677711	RCV000571323\|RCV000644413;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104326	2104326	C	T	16:g.2104326C>T	ClinGen:CA492955358	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.369C>G (p.Phe123Leu)	7249	TSC2	Uncertain significance	rs1567399252	RCV000687993;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104329	2104329	C	G	NC_000016.9:g.2104329C>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.369C>T (p.Phe123=)	7249	TSC2	Likely benign	-1	RCV002125987;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104329	2104329	C	T	2104329	-
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)	7249	TSC2	Uncertain significance	rs547231441	RCV000802848\|RCV001020948;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104330	2104330	T	C	16:g.2104330T>C	-
NM_000548.5(TSC2):c.372T>C (p.Phe124=)	7249	TSC2	Likely benign	rs753922923	RCV000909147;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104332	2104332	T	C	16:g.2104332T>C	-
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs767059758	RCV000550667\|RCV001021036\|RCV001115885\|RCV001591241;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2104334	2104334	A	G	NC_000016.9:g.2104334A>G	ClinGen:CA048294	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)	7249	TSC2	Uncertain significance	rs778928295	RCV000561673\|RCV001295259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104335	2104335	G	C	16:g.2104335G>C	ClinGen:CA048320	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.375G>A (p.Lys125=)	7249	TSC2	Uncertain significance	rs778928295	RCV000699522;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104335	2104335	G	A	NC_000016.9:g.2104335G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.376G>T (p.Val126Phe)	7249	TSC2	Uncertain significance	rs1458070269	RCV001242234;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104336	2104336	G	T	16:g.2104336G>T	-
NM_000548.5(TSC2):c.376G>A (p.Val126Ile)	7249	TSC2	Uncertain significance	rs1458070269	RCV001322237;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104336	2104336	G	A	2104336	-
NM_000548.5(TSC2):c.377T>C (p.Val126Ala)	7249	TSC2	Uncertain significance	rs2085502098	RCV001046520;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104337	2104337	T	C	16:g.2104337T>C	-
NM_000548.5(TSC2):c.378C>G (p.Val126=)	7249	TSC2	Likely benign	-1	RCV001458530;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104338	2104338	C	G	2104338	-
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)	7249	TSC2	Uncertain significance	rs1207714822	RCV001216204\|RCV001732074;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2104339	2104339	A	G	16:g.2104339A>G	-
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)	7249	TSC2	Uncertain significance	-1	RCV001765728\|RCV001882892;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104341	2104341	C	G	2104341	-
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)	7249	TSC2	Uncertain significance	rs748095129	RCV000701802;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104344	2104344	G	T	16:g.2104344G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.384G>A (p.Lys128=)	7249	TSC2	Likely benign	rs748095129	RCV000943640\|RCV001416224;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104344	2104344	G	A	16:g.2104344G>A	-
NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr)	7249	TSC2	Uncertain significance	rs771961048	RCV000644250;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104345	2104345	G	T	NC_000016.9:g.2104345G>T	ClinGen:CA048912	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.386A>T (p.Asp129Val)	7249	TSC2	Uncertain significance	rs1555497612	RCV000644235;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104346	2104346	A	T	16:g.2104346A>T	ClinGen:CA394306880	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu)	7249	TSC2	Uncertain significance	-1	RCV001955733;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104347	2104347	T	A	2104347	-
NM_000548.5(TSC2):c.390C>T (p.Tyr130=)	7249	TSC2	Likely benign	-1	RCV002213999;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104350	2104350	C	T	2104350	-
NM_000548.5(TSC2):c.391C>A (p.Pro131Thr)	7249	TSC2	Uncertain significance	rs777398393	RCV000232197;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104351	2104351	C	A	NC_000016.9:g.2104351C>A	ClinGen:CA10583281	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)	7249	TSC2	Uncertain significance	rs777398393	RCV001236083;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104351	2104351	C	G	16:g.2104351C>G	-
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)	7249	TSC2	Uncertain significance	-1	RCV001924768;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104351	2104351	C	T	2104351	-
NM_000548.5(TSC2):c.392C>T (p.Pro131Leu)	7249	TSC2	Uncertain significance	rs1487984678	RCV000811943;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104352	2104352	C	T	16:g.2104352C>T	-
NM_000548.5(TSC2):c.392C>G (p.Pro131Arg)	7249	TSC2	Uncertain significance	rs1487984678	RCV001217704;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104352	2104352	C	G	16:g.2104352C>G	-
NM_000548.5(TSC2):c.393T>C (p.Pro131=)	7249	TSC2	Likely benign	-1	RCV001461442;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104353	2104353	T	C	2104353	-
NM_000548.5(TSC2):c.394T>C (p.Ser132Pro)	7249	TSC2	Uncertain significance	rs1191673224	RCV000702015;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104354	2104354	T	C	16:g.2104354T>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)	7249	TSC2	Benign/Likely benign	rs137854391	RCV000043300\|RCV000464621\|RCV000421754;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2104355	2104355	C	G	16:g.2104355C>G	ClinGen:CA019748,Tuberous sclerosis database (TSC2):TSC2_01086	CN169374 not specified;
NM_000548.5(TSC2):c.396C>T (p.Ser132=)	7249	TSC2	Likely benign	rs1060504083	RCV000460866\|RCV001426447;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104356	2104356	C	T	NC_000016.9:g.2104356C>T	ClinGen:CA16614610	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.398A>C (p.Asn133Thr)	7249	TSC2	Uncertain significance	rs1265446222	RCV001219580;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104358	2104358	A	C	16:g.2104358A>C	-
NM_000548.5(TSC2):c.399C>T (p.Asn133=)	7249	TSC2	Benign	rs746704620	RCV000644307;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104359	2104359	C	T	NC_000016.9:g.2104359C>T	ClinGen:CA049898	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.399C>A (p.Asn133Lys)	7249	TSC2	Uncertain significance	rs746704620	RCV001048312;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104359	2104359	C	A	16:g.2104359C>A	-
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)	7249	TSC2	Uncertain significance	rs1555497641	RCV000555560\|RCV001021650;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104360	2104360	G	A	NC_000016.9:g.2104360G>A	ClinGen:CA394306969	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)	7249	TSC2	Pathogenic	rs1555497641	RCV000989414;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104360	2104360	G	T	16:g.2104360G>T	-
NM_000548.5(TSC2):c.401A>G (p.Glu134Gly)	7249	TSC2	Uncertain significance	-1	RCV002002721;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104361	2104361	A	G	2104361	-
NM_000548.5(TSC2):c.403G>A (p.Asp135Asn)	7249	TSC2	Uncertain significance	-1	RCV001876653;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104363	2104363	G	A	2104363	-
NM_000548.5(TSC2):c.404A>G (p.Asp135Gly)	7249	TSC2	Uncertain significance	rs2085506301	RCV001295193;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104364	2104364	A	G	2104364	-
NM_000548.5(TSC2):c.405C>T (p.Asp135=)	7249	TSC2	Likely benign	rs1005115266	RCV000976912\|RCV001412710;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104365	2104365	C	T	16:g.2104365C>T	-
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)	7249	TSC2	Uncertain significance	rs1350803240	RCV000793084;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104366	2104366	C	T	16:g.2104366C>T	-
NM_000548.5(TSC2):c.408T>G (p.Leu136=)	7249	TSC2	Benign/Likely benign	rs1037058497	RCV000546001\|RCV000612123;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2104368	2104368	T	G	16:g.2104368T>G	ClinGen:CA276771525	CN169374 not specified;
NM_000548.5(TSC2):c.409C>T (p.His137Tyr)	7249	TSC2	Uncertain significance	rs1596265133	RCV000813997;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104369	2104369	C	T	16:g.2104369C>T	-
NM_000548.5(TSC2):c.410A>G (p.His137Arg)	7249	TSC2	Uncertain significance	rs45517107	RCV000042542\|RCV001321102;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104370	2104370	A	G	16:g.2104370A>G	Tuberous sclerosis database (TSC2):TSC2_00069,ClinGen:CA019961,UniProtKB:P49815#VAR_009415	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.411C>T (p.His137=)	7249	TSC2	Benign/Likely benign	rs776129896	RCV000534425\|RCV000572402\|RCV001821553;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	16	2104371	2104371	C	T	16:g.2104371C>T	ClinGen:CA050522	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.411C>G (p.His137Gln)	7249	TSC2	Uncertain significance	-1	RCV002024189;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104371	2104371	C	G	2104371	-
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)	7249	TSC2	Uncertain significance	rs1173061992	RCV000802752\|RCV001805870;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2104372	2104372	G	A	16:g.2104372G>A	-
NM_000548.5(TSC2):c.416G>A (p.Arg139Lys)	7249	TSC2	Uncertain significance	rs2085508015	RCV001225356;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104376	2104376	G	A	16:g.2104376G>A	-
NM_000548.5(TSC2):c.418C>T (p.Leu140=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1555497657	RCV000572774\|RCV000693802;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104378	2104378	C	T	16:g.2104378C>T	ClinGen:CA492955495	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.420G>A (p.Leu140=)	7249	TSC2	Benign/Likely benign	rs876660078	RCV000221035\|RCV001400333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104380	2104380	G	A	16:g.2104380G>A	ClinGen:CA10579871	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)	7249	TSC2	Pathogenic	rs1060500924	RCV000458135;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104381	2104381	G	T	NC_000016.9:g.2104381G>T	ClinGen:CA16614902	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.422A>G (p.Glu141Gly)	7249	TSC2	Uncertain significance	-1	RCV001954223;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104382	2104382	A	G	2104382	-
NM_000548.5(TSC2):c.423_424delinsAA (p.Val142Ile)	7249	TSC2	Uncertain significance	rs2085508858	RCV001226962;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104383	2104384	GG	AA	NC_000016.9:g.2104383_2104384delinsAA	-
NM_000548.5(TSC2):c.424G>C (p.Val142Leu)	7249	TSC2	Uncertain significance	-1	RCV001876337;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104384	2104384	G	C	2104384	-
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs137854406	RCV000043165\|RCV000431983\|RCV000476314;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104389	2104389	C	G	16:g.2104389C>G	ClinGen:CA020223,Tuberous sclerosis database (TSC2):TSC2_01089	CN169374 not specified;
NM_000548.5(TSC2):c.429C>T (p.Phe143=)	7249	TSC2	Likely benign	rs137854406	RCV000419615\|RCV002063402;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104389	2104389	C	T	16:g.2104389C>T	ClinGen:CA050814	CN169374 not specified;
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)	7249	TSC2	Benign/Likely benign	rs769286175	RCV000189958\|RCV000229518;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104391	2104391	A	G	NC_000016.9:g.2104391A>G	ClinGen:CA050850	CN169374 not specified;
NM_000548.5(TSC2):c.432G>C (p.Lys144Asn)	7249	TSC2	Uncertain significance	rs2085509615	RCV001338814;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104392	2104392	G	C	2104392	-
NM_000548.5(TSC2):c.432G>A (p.Lys144=)	7249	TSC2	Likely benign	-1	RCV002147736;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104392	2104392	G	A	2104392	-
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)	7249	TSC2	Benign/Likely benign	rs774892845	RCV000565404\|RCV000601232\|RCV000644327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104393	2104393	G	A	16:g.2104393G>A	ClinGen:CA050881	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.434C>T (p.Ala145Val)	7249	TSC2	Uncertain significance	rs1596265255	RCV001022336\|RCV001348361;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104394	2104394	C	T	16:g.2104394C>T	-
NM_000548.5(TSC2):c.434C>G (p.Ala145Gly)	7249	TSC2	Uncertain significance	-1	RCV001905314;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104394	2104394	C	G	2104394	-
NM_000548.5(TSC2):c.435C>T (p.Ala145=)	7249	TSC2	Likely benign	-1	RCV002126837;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104395	2104395	C	T	2104395	-
NM_000548.5(TSC2):c.436C>G (p.Leu146Val)	7249	TSC2	Uncertain significance	rs997604465	RCV001315553;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104396	2104396	C	G	2104396	-
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)	7249	TSC2	Uncertain significance	-1	RCV001881684;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104396	2104396	C	T	2104396	-
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)	7249	TSC2	Pathogenic	rs137854292	RCV000043153\|RCV001253193;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104398	2104399	TCA	T	16:g.2104398_2104399del	ClinGen:CA020391,Tuberous sclerosis database (TSC2):TSC2_00296	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.438C>T (p.Leu146=)	7249	TSC2	Likely benign	-1	RCV001416418;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104398	2104398	C	T	2104398	-
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)	7249	TSC2	Uncertain significance	rs1596265301	RCV000822948;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104399	2104399	A	G	16:g.2104399A>G	-
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)	7249	TSC2	Likely pathogenic	rs1555497690	RCV000644114;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104400	2104400	C	A	NC_000016.9:g.2104400C>A	ClinGen:CA394308347	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile)	7249	TSC2	Uncertain significance	rs1555497690	RCV001300691;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104400	2104400	C	T	2104400	-
NM_000548.5(TSC2):c.442G>C (p.Asp148His)	7249	TSC2	Uncertain significance	-1	RCV002035799;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104402	2104402	G	C	2104402	-
NM_000548.5(TSC2):c.444C>T (p.Asp148=)	7249	TSC2	Benign/Likely benign	rs767968378	RCV001022503\|RCV001394584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104404	2104404	C	T	16:g.2104404C>T	-
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp)	7249	TSC2	Uncertain significance	rs878854107	RCV000232638;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104405	2104405	A	G	NC_000016.9:g.2104405A>G	ClinGen:CA10583282	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)	7249	TSC2	Uncertain significance	rs1029118280	RCV000573948\|RCV000644253\|RCV001545040;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2104406	2104406	A	G	16:g.2104406A>G	ClinGen:CA276771541	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.447T>C (p.Asn149=)	7249	TSC2	Likely benign	-1	RCV001471643;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104407	2104407	T	C	2104407	-
NM_000548.5(TSC2):c.450G>A (p.Gly150=)	7249	TSC2	Benign/Likely benign	rs372000734	RCV000473158\|RCV000562794\|RCV001704389;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2104410	2104410	G	A	16:g.2104410G>A	ClinGen:CA051466	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.453A>G (p.Arg151=)	7249	TSC2	Likely benign	-1	RCV001448968;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104413	2104413	A	G	2104413	-
NM_000548.5(TSC2):c.453A>T (p.Arg151Ser)	7249	TSC2	Uncertain significance	-1	RCV002048653;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104413	2104413	A	T	2104413	-
NM_000548.5(TSC2):c.454C>G (p.His152Asp)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397515285	RCV000055607\|RCV000575914\|RCV001557660\|RCV000465969;	N	MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104414	2104414	C	G	16:g.2104414C>G	ClinGen:CA020642,Tuberous sclerosis database (TSC2):TSC2_02104	C1510586 Autism spectrum disorder;
NM_000548.5(TSC2):c.456C>T (p.His152=)	7249	TSC2	Benign/Likely benign	rs1596265401	RCV000873026\|RCV001022713;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104416	2104416	C	T	16:g.2104416C>T	-
NM_000548.5(TSC2):c.457A>G (p.Ile153Val)	7249	TSC2	Uncertain significance	rs1555497700	RCV000566766\|RCV001215453;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104417	2104417	A	G	NC_000016.9:g.2104417A>G	ClinGen:CA394308459	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile)	7249	TSC2	Uncertain significance	rs1215092245	RCV000644109;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104421	2104421	C	T	NC_000016.9:g.2104421C>T	ClinGen:CA394308479	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.464_466del (p.Tyr155del)	7249	TSC2	Uncertain significance	rs2085513777	RCV001051707;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104422	2104424	CCTA	C	16:g.2104422_2104424del	-
NM_000548.5(TSC2):c.462C>T (p.Thr154=)	7249	TSC2	Likely benign	-1	RCV002128871;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104422	2104422	C	T	2104422	-
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)	7249	TSC2	Conflicting interpretations of pathogenicity	rs755177576	RCV000644170\|RCV001022839;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2104424	2104424	A	G	NC_000016.9:g.2104424A>G	ClinGen:CA052014	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)	7249	TSC2	Benign/Likely benign	rs45444196	RCV000055368\|RCV000189959\|RCV000569174\|RCV000477063;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104425	2104425	C	T	16:g.2104425C>T	ClinGen:CA020832,Tuberous sclerosis database (TSC2):TSC2_02122	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.468G>A (p.Leu156=)	7249	TSC2	Uncertain significance	rs2085514413	RCV001048281;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104428	2104428	G	A	16:g.2104428G>A	-
NM_000548.5(TSC2):c.470A>G (p.Glu157Gly)	7249	TSC2	Uncertain significance	-1	RCV002033512;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104430	2104430	A	G	2104430	-
NM_000548.5(TSC2):c.471G>A (p.Glu157=)	7249	TSC2	Likely benign	-1	RCV001506082;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104431	2104431	G	A	2104431	-
NM_000548.5(TSC2):c.472G>A (p.Glu158Lys)	7249	TSC2	Uncertain significance	rs1596265482	RCV000824576;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104432	2104432	G	A	16:g.2104432G>A	-
NM_000548.5(TSC2):c.473A>G (p.Glu158Gly)	7249	TSC2	Uncertain significance	rs2085515389	RCV001224960;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104433	2104433	A	G	16:g.2104433A>G	-
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)	7249	TSC2	Pathogenic	rs1555497714	RCV000644141;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104435	2104435	G	T	16:g.2104435G>T	ClinGen:CA394308572	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)	7249	TSC2	Uncertain significance	rs1555497716	RCV000644265;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104436	2104436	A	T	NC_000016.9:g.2104436A>T	ClinGen:CA394308577	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.479T>A (p.Leu160Gln)	7249	TSC2	Uncertain significance	rs1555497725	RCV000534568;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104439	2104439	T	A	16:g.2104439T>A	ClinGen:CA394308591	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.479T>G (p.Leu160Arg)	7249	TSC2	Uncertain significance	-1	RCV001962790;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104439	2104439	T	G	2104439	-
NM_000548.5(TSC2):c.481G>A (p.Ala161Thr)	7249	TSC2	Uncertain significance	-1	RCV002012518;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104441	2104441	G	A	2104441	-
NM_000548.5(TSC2):c.481+1G>A	7249	TSC2	Pathogenic	-1	RCV001391263\|RCV001871999;	N	Human Phenotype Ontology:HP:0009717,MedGen:C1968959; Human Phenotype Ontology:HP:0032046,MedGen:C2938983\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104442	2104442	G	A	2104442	-
NM_000548.5(TSC2):c.481+5G>A	7249	TSC2	Pathogenic	rs137854135	RCV000055192\|RCV001039974;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104446	2104446	G	A	16:g.2104446G>A	ClinGen:CA021022,Tuberous sclerosis database (TSC2):TSC2_01146	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.481+5G>C	7249	TSC2	Uncertain significance	rs137854135	RCV001027853;	N	MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994	16	2104446	2104446	G	C	16:g.2104446G>C	-
NM_000548.5(TSC2):c.481+7G>T	7249	TSC2	Likely benign	-1	RCV001472634;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104448	2104448	G	T	2104448	-
NM_000548.5(TSC2):c.481+8C>T	7249	TSC2	Benign/Likely benign	rs758228838	RCV000229808\|RCV000609987;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2104449	2104449	C	T	NC_000016.9:g.2104449C>T	ClinGen:CA052556	CN169374 not specified;
NM_000548.5(TSC2):c.481+9C>T	7249	TSC2	Benign/Likely benign	rs201026150	RCV000559493\|RCV000607140;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2104450	2104450	C	T	NC_000016.9:g.2104450C>T	ClinGen:CA276771565	CN169374 not specified;
NM_000548.5(TSC2):c.481+10A>C	7249	TSC2	Likely benign	rs1196443311	RCV000546935;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104451	2104451	A	C	16:g.2104451A>C	ClinGen:CA658658347	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.481+10A>G	7249	TSC2	Likely benign	rs1196443311	RCV000943780;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104451	2104451	A	G	16:g.2104451A>G	-
NM_000548.5(TSC2):c.481+11C>A	7249	TSC2	Likely benign	-1	RCV002116745;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104452	2104452	C	A	2104452	-
NM_000548.5(TSC2):c.481+11C>T	7249	TSC2	Likely benign	-1	RCV002177473;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104452	2104452	C	T	2104452	-
NM_000548.5(TSC2):c.481+12C>T	7249	TSC2	Likely benign	rs777645015	RCV000600938\|RCV002066761;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104453	2104453	C	T	16:g.2104453C>T	ClinGen:CA052495	CN169374 not specified;
NM_000548.5(TSC2):c.481+14T>G	7249	TSC2	Likely benign	-1	RCV002152824;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2104455	2104455	T	G	2104455	-
NM_000548.5(TSC2):c.482-20_482-15del	7249	TSC2	Likely benign	-1	RCV002087508;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105382	2105387	ACTGCCG	A	2105381	-
NM_000548.5(TSC2):c.482-20T>A	7249	TSC2	Benign/Likely benign	rs548831116	RCV000607963\|RCV001811116\|RCV002066762;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105383	2105383	T	A	16:g.2105383T>A	ClinGen:CA052584	CN169374 not specified;
NC_000016.10:g.(?_2055382)_(2119398_?)del	7249	TSC2	Pathogenic	-1	RCV000708429;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105383	2169399	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.482-20T>C	7249	TSC2	Likely benign	-1	RCV002104428;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105383	2105383	T	C	2105383	-
NM_000548.5(TSC2):c.482-17C>T	7249	TSC2	Likely benign	rs201589515	RCV000443105\|RCV002065069;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105386	2105386	C	T	16:g.2105386C>T	ClinGen:CA052574	CN169374 not specified;
NM_000548.5(TSC2):c.482-16G>A	7249	TSC2	Benign	-1	RCV002115783;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105387	2105387	G	A	2105387	-
NM_000548.5(TSC2):c.482-14C>A	7249	TSC2	Uncertain significance	-1	RCV001904088;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105389	2105389	C	A	2105389	-
NM_000548.5(TSC2):c.482-14C>T	7249	TSC2	Likely benign	-1	RCV002078763;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105389	2105389	C	T	2105389	-
NM_000548.5(TSC2):c.482-13G>A	7249	TSC2	Likely benign	-1	RCV002103252;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105390	2105390	G	A	2105390	-
NM_000548.5(TSC2):c.482-13G>C	7249	TSC2	Likely benign	-1	RCV002174511;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105390	2105390	G	C	2105390	-
NM_000548.5(TSC2):c.482-7C>G	7249	TSC2	Uncertain significance	rs2085648892	RCV001301633;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105396	2105396	C	G	2105396	-
NM_000548.5(TSC2):c.482-7C>A	7249	TSC2	Uncertain significance	rs2085648892	RCV001341307;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105396	2105396	C	A	2105396	-
NM_000548.5(TSC2):c.482-5C>T	7249	TSC2	Likely benign	rs397515071	RCV000055307\|RCV001481149;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105398	2105398	C	T	16:g.2105398C>T	ClinGen:CA021060,Tuberous sclerosis database (TSC2):TSC2_01215	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.482-5C>G	7249	TSC2	Uncertain significance	rs397515071	RCV001294706;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105398	2105398	C	G	2105398	-
NM_000548.5(TSC2):c.482-4C>T	7249	TSC2	Benign/Likely benign	rs780938957	RCV000945068\|RCV001655648;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2105399	2105399	C	T	16:g.2105399C>T	-
NM_000548.5(TSC2):c.482-4_482-3delinsGT	7249	TSC2	Uncertain significance	rs2085650597	RCV001047639;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105399	2105400	CC	GT	NC_000016.9:g.2105399_2105400delinsGT	-
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)	7249	TSC2	Uncertain significance	rs45481496	RCV000042584\|RCV000809485;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105403	2105403	C	T	NC_000016.9:g.2105403C>T	ClinGen:CA021073,Tuberous sclerosis database (TSC2):TSC2_00894	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.482C>G (p.Ala161Gly)	7249	TSC2	Uncertain significance	rs45481496	RCV000804201;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105403	2105403	C	G	16:g.2105403C>G	-
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1257721773	RCV000644082\|RCV001023148;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105405	2105405	G	A	NC_000016.9:g.2105405G>A	ClinGen:CA394309028	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.486C>T (p.Asp162=)	7249	TSC2	Benign/Likely benign	rs45473598	RCV000042588\|RCV000231138\|RCV000563906\|RCV001547668\|RCV001844021;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MedGen:CN169374	16	2105407	2105407	C	T	16:g.2105407C>T	ClinGen:CA021156,Tuberous sclerosis database (TSC2):TSC2_00078	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)	7249	TSC2	Pathogenic	rs137854122	RCV000043145\|RCV000478381\|RCV000818975;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105408	2105409	CTT	C	NC_000016.9:g.2105409_2105410del	ClinGen:CA021186,Tuberous sclerosis database (TSC2):TSC2_00099
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)	7249	TSC2	Uncertain significance	rs1596270677	RCV000820781\|RCV001585759;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2105409	2105409	T	C	16:g.2105409T>C	-
NM_000548.5(TSC2):c.492C>T (p.Val164=)	7249	TSC2	Likely benign	rs1424637610	RCV000525738;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105413	2105413	C	T	16:g.2105413C>T	ClinGen:CA492955723	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.493C>T (p.Leu165=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs758521946	RCV000179332\|RCV000563723\|RCV001084292;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105414	2105414	C	T	16:g.2105414C>T	ClinGen:CA021361	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.495G>A (p.Leu165=)	7249	TSC2	Likely benign	-1	RCV002132968;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105416	2105416	G	A	2105416	-
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)	7249	TSC2	Uncertain significance	rs1555498118	RCV000574722\|RCV000644193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105420	2105420	T	C	16:g.2105420T>C	ClinGen:CA394309132	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)	7249	TSC2	Pathogenic	rs1131691794	RCV000493895\|RCV001050966;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105421	2105421	G	A	NC_000016.9:g.2105421G>A	ClinGen:CA394309138
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)	7249	TSC2	Uncertain significance	rs755728007	RCV000547492\|RCV000765259;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C184638	16	2105422	2105422	G	C	16:g.2105422G>C	ClinGen:CA053524	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)	7249	TSC2	Uncertain significance	rs779566253	RCV001235749;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105423	2105423	A	C	16:g.2105423A>C	-
NM_000548.5(TSC2):c.502A>G (p.Met168Val)	7249	TSC2	Uncertain significance	rs779566253	RCV001352453;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105423	2105423	A	G	2105423	-
NM_000548.5(TSC2):c.503T>C (p.Met168Thr)	7249	TSC2	Uncertain significance	rs1555498124	RCV000540210;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105424	2105424	T	C	NC_000016.9:g.2105424T>C	ClinGen:CA394309172	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.504G>T (p.Met168Ile)	7249	TSC2	Uncertain significance	rs748692173	RCV000701409;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105425	2105425	G	T	NC_000016.9:g.2105425G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.505G>A (p.Asp169Asn)	7249	TSC2	Uncertain significance	rs2085657148	RCV001224818;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105426	2105426	G	A	16:g.2105426G>A	-
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1596270815	RCV000796975\|RCV001023518;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105429	2105429	G	A	16:g.2105429G>A	-
NM_000548.5(TSC2):c.509T>C (p.Val170Ala)	7249	TSC2	Uncertain significance	rs2085658266	RCV001035170;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105430	2105430	T	C	16:g.2105430T>C	-
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)	7249	TSC2	Uncertain significance	rs983899092	RCV000822669;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105433	2105433	G	A	16:g.2105433G>A	-
NM_000548.5(TSC2):c.517T>G (p.Ser173Ala)	7249	TSC2	Uncertain significance	-1	RCV001926474;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105438	2105438	T	G	2105438	-
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)	7249	TSC2	Uncertain significance	rs773662047	RCV001220756;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105439	2105439	C	T	16:g.2105439C>T	-
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs747538587	RCV000551476\|RCV000590906\|RCV001023750;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105442	2105442	C	T	16:g.2105442C>T	ClinGen:CA054487	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.522G>A (p.Ser174=)	7249	TSC2	Uncertain significance	rs2085660429	RCV001062182;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105443	2105443	G	A	16:g.2105443G>A	-
NM_000548.5(TSC2):c.522G>C (p.Ser174=)	7249	TSC2	Likely benign	-1	RCV001395673;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105443	2105443	G	C	2105443	-
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)	7249	TSC2	Uncertain significance	rs1555498151	RCV000644172;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105444	2105444	G	A	NC_000016.9:g.2105444G>A	ClinGen:CA394309294	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln)	7249	TSC2	Uncertain significance	rs1555498151	RCV001338617;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105444	2105444	G	C	2105444	-
NM_000548.5(TSC2):c.525A>G (p.Glu175=)	7249	TSC2	Likely benign	-1	RCV002165529;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105446	2105446	A	G	2105446	-
NM_000548.5(TSC2):c.528C>A (p.Phe176Leu)	7249	TSC2	Uncertain significance	-1	RCV001874164;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105449	2105449	C	A	2105449	-
NM_000548.5(TSC2):c.529C>T (p.Leu177Phe)	7249	TSC2	Uncertain significance	rs867879148	RCV001054854;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105450	2105450	C	T	16:g.2105450C>T	-
NM_000548.5(TSC2):c.532C>T (p.Leu178=)	7249	TSC2	Benign/Likely benign	rs1465941679	RCV000547945\|RCV000565994;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105453	2105453	C	T	NC_000016.9:g.2105453C>T	ClinGen:CA492955787	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.533T>C (p.Leu178Pro)	7249	TSC2	Uncertain significance	-1	RCV002026837;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105454	2105454	T	C	2105454	-
NM_000548.5(TSC2):c.535G>A (p.Val179Met)	7249	TSC2	Uncertain significance	rs777105764	RCV000538231;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105456	2105456	G	A	NC_000016.9:g.2105456G>A	ClinGen:CA055211	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.537G>A (p.Val179=)	7249	TSC2	Likely benign	-1	RCV002099128;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105458	2105458	G	A	2105458	-
NM_000548.5(TSC2):c.538C>A (p.Leu180Met)	7249	TSC2	Uncertain significance	rs45485591	RCV000704944;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105459	2105459	C	A	NC_000016.9:g.2105459C>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.539T>G (p.Leu180Arg)	7249	TSC2	Uncertain significance	rs1567403610	RCV000689885;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105460	2105460	T	G	16:g.2105460T>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.540G>A (p.Leu180=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1567403619	RCV001091438\|RCV001340217;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105461	2105461	G	A	16:g.2105461G>A	-
NM_000548.5(TSC2):c.541G>A (p.Val181Met)	7249	TSC2	Uncertain significance	-1	RCV001911647;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105462	2105462	G	A	2105462	-
NM_000548.5(TSC2):c.545A>T (p.Asn182Ile)	7249	TSC2	Uncertain significance	rs1016698636	RCV001035216;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105466	2105466	A	T	16:g.2105466A>T	-
NM_000548.5(TSC2):c.546C>T (p.Asn182=)	7249	TSC2	Likely benign	-1	RCV002072508;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105467	2105467	C	T	2105467	-
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)	7249	TSC2	Uncertain significance	rs1415519717	RCV000644251;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105470	2105470	G	C	NC_000016.9:g.2105470G>C	ClinGen:CA394309485	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.551T>G (p.Val184Gly)	7249	TSC2	Uncertain significance	rs2085667006	RCV001208134;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105472	2105472	T	G	16:g.2105472T>G	-
NM_000548.5(TSC2):c.551T>A (p.Val184Asp)	7249	TSC2	Likely pathogenic	-1	RCV001379717;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105472	2105472	T	A	2105472	-
NM_000548.5(TSC2):c.552C>T (p.Val184=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs199991910	RCV000289780\|RCV000467132\|RCV000431095\|RCV000566695\|RCV001083691;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105473	2105473	C	T	NC_000016.9:g.2105473C>T	ClinGen:CA055387	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.554A>C (p.Lys185Thr)	7249	TSC2	Uncertain significance	-1	RCV001935678;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105475	2105475	A	C	2105475	-
NM_000548.5(TSC2):c.558C>T (p.Phe186=)	7249	TSC2	Likely benign	rs775642056	RCV000467275;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105479	2105479	C	T	NC_000016.9:g.2105479C>T	ClinGen:CA055391	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.558C>A (p.Phe186Leu)	7249	TSC2	Uncertain significance	rs775642056	RCV001321506;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105479	2105479	C	A	2105479	-
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45505405	RCV000163373\|RCV000190050\|RCV000765260\|RCV001086110;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; Human Phenotype Ontology:HP:0032051,MONDO:MONDO:00	16	2105481	2105481	A	G	NC_000016.9:g.2105481A>G	ClinGen:CA022534
NM_000548.5(TSC2):c.564C>T (p.Ser188=)	7249	TSC2	Likely benign	-1	RCV001485909;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105485	2105485	C	T	2105485	-
NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs764218079	RCV000227485\|RCV001024387;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105487	2105487	G	A	NC_000016.9:g.2105487G>A	ClinGen:CA055403	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)	7249	TSC2	Uncertain significance	rs764218079	RCV001024388\|RCV001315789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105487	2105487	G	C	16:g.2105487G>C	-
NM_000548.5(TSC2):c.567T>A (p.Cys189Ter)	7249	TSC2	Pathogenic	rs2085669104	RCV001040877;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105488	2105488	T	A	16:g.2105488T>A	-
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)	7249	TSC2	Pathogenic	rs137854359	RCV000043304\|RCV000201021;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105489	2105490	T	TA	16:g.2105489_2105490insA	ClinGen:CA022559,Tuberous sclerosis database (TSC2):TSC2_00093	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.570C>T (p.Tyr190=)	7249	TSC2	Likely benign	-1	RCV001427621;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105491	2105491	C	T	2105491	-
NM_000548.5(TSC2):c.571C>T (p.Leu191Phe)	7249	TSC2	Uncertain significance	rs1555498201	RCV000644190;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105492	2105492	C	T	NC_000016.9:g.2105492C>T	ClinGen:CA394309670	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.573C>T (p.Leu191=)	7249	TSC2	Benign/Likely benign	rs397515059	RCV000055288\|RCV001024464\|RCV000552561;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105494	2105494	C	T	16:g.2105494C>T	ClinGen:CA022574,Tuberous sclerosis database (TSC2):TSC2_01147	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.573C>G (p.Leu191=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397515059	RCV000179331\|RCV001085605;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105494	2105494	C	G	16:g.2105494C>G	ClinGen:CA022569	CN169374 not specified;
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn)	7249	TSC2	Uncertain significance	rs1284679649	RCV000644204;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105495	2105495	G	A	16:g.2105495G>A	ClinGen:CA394309714	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.576C>T (p.Asp192=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs761704292	RCV000728148\|RCV001083499;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105497	2105497	C	T	NC_000016.9:g.2105497C>T	ClinGen:CA055420	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517112	RCV000189961\|RCV000219746\|RCV000698793;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105498	2105498	G	A	NC_000016.9:g.2105498G>A	ClinGen:CA055433	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.578A>C (p.Glu193Ala)	7249	TSC2	Uncertain significance	rs2085672813	RCV001042210;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105499	2105499	A	C	16:g.2105499A>C	-
NM_000548.5(TSC2):c.578A>G (p.Glu193Gly)	7249	TSC2	Uncertain significance	-1	RCV001885601;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105499	2105499	A	G	2105499	-
NM_000548.5(TSC2):c.579G>A (p.Glu193=)	7249	TSC2	Likely benign	rs1192379518	RCV000928973\|RCV001422999;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105500	2105500	G	A	16:g.2105500G>A	-
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)	7249	TSC2	Benign/Likely benign	rs750174170	RCV001024577\|RCV001464550;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105503	2105503	C	T	16:g.2105503C>T	-
NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter)	7249	TSC2	Pathogenic	rs750174170	RCV001224397;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105503	2105503	C	G	16:g.2105503C>G	-
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)	7249	TSC2	Benign/Likely benign	rs148325559	RCV000189962\|RCV000205768\|RCV000573793;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2105504	2105504	A	G	NC_000016.9:g.2105504A>G	ClinGen:CA055442	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.585C>T (p.Ile195=)	7249	TSC2	Likely benign	rs397515309	RCV000644401;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105506	2105506	C	T	NC_000016.9:g.2105506C>T	ClinGen:CA055446	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)	7249	TSC2	Uncertain significance	rs397515309	RCV000704748;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105506	2105506	C	G	NC_000016.9:g.2105506C>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517113	RCV000043220\|RCV000473187\|RCV001024627\|RCV001719786;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2105507	2105507	G	A	16:g.2105507G>A	ClinGen:CA022594,Tuberous sclerosis database (TSC2):TSC2_00356	CN169374 not specified;
NM_000548.5(TSC2):c.587C>T (p.Ala196Val)	7249	TSC2	Uncertain significance	rs1596271211	RCV000810242;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105508	2105508	C	T	16:g.2105508C>T	-
NM_000548.5(TSC2):c.590G>A (p.Arg197Lys)	7249	TSC2	Uncertain significance	-1	RCV001372608;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105511	2105511	G	A	2105511	-
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)	7249	TSC2	Uncertain significance	rs45517114	RCV000042635\|RCV000455251\|RCV001370970;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105514	2105514	T	C	16:g.2105514T>C	ClinGen:CA022610,Tuberous sclerosis database (TSC2):TSC2_00880	CN169374 not specified;
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)	7249	TSC2	Uncertain significance	rs1452242351	RCV001063651;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105515	2105515	G	A	16:g.2105515G>A	-
NM_000548.5(TSC2):c.595G>C (p.Val199Leu)	7249	TSC2	Uncertain significance	rs587778733	RCV000122219\|RCV000810100;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105516	2105516	G	C	NC_000016.9:g.2105516G>C	ClinGen:CA022614	CN169374 not specified;
NM_000548.5(TSC2):c.596T>C (p.Val199Ala)	7249	TSC2	Uncertain significance	rs1555498243	RCV000533114;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105517	2105517	T	C	NC_000016.9:g.2105517T>C	ClinGen:CA394309899	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)	7249	TSC2	Uncertain significance	rs2085677930	RCV001231599;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105520	2105520	A	G	16:g.2105520A>G	-
NM_000548.5(TSC2):c.599+2T>G	7249	TSC2	Likely pathogenic	rs45484992	RCV000043142\|RCV001037420;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105522	2105522	T	G	16:g.2105522T>G	ClinGen:CA022631,Tuberous sclerosis database (TSC2):TSC2_00897	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+3A>G	7249	TSC2	Conflicting interpretations of pathogenicity	rs397514899	RCV000055073\|RCV000557913\|RCV001529485;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2105523	2105523	A	G	16:g.2105523A>G	ClinGen:CA022636,Tuberous sclerosis database (TSC2):TSC2_02127	CN169374 not specified;
NM_000548.5(TSC2):c.599+5_599+7del	7249	TSC2	Uncertain significance	-1	RCV002053874;	N	Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2105523	2105525	TAAG	T	2105522	-
NM_000548.5(TSC2):c.599+4A>G	7249	TSC2	Uncertain significance	rs397515140	RCV000055405\|RCV001063099;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105524	2105524	A	G	16:g.2105524A>G	ClinGen:CA022641,Tuberous sclerosis database (TSC2):TSC2_02128	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+5G>A	7249	TSC2	Uncertain significance	rs45463996	RCV000043143\|RCV000792508;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105525	2105525	G	A	NC_000016.9:g.2105525G>A	ClinGen:CA022643,Tuberous sclerosis database (TSC2):TSC2_00360	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+5G>C	7249	TSC2	Uncertain significance	rs45463996	RCV000043144\|RCV001368708;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105525	2105525	G	C	16:g.2105525G>C	ClinGen:CA022647,Tuberous sclerosis database (TSC2):TSC2_00881	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+6A>G	7249	TSC2	Uncertain significance	rs2085679383	RCV001302077;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105526	2105526	A	G	2105526	-
NM_000548.5(TSC2):c.599+8A>G	7249	TSC2	Likely benign	-1	RCV001466085;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105528	2105528	A	G	2105528	-
NM_000548.5(TSC2):c.599+10_599+12del	7249	TSC2	Likely benign	-1	RCV002112503;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105528	2105530	AAAG	A	2105527	-
NM_000548.5(TSC2):c.599+10G>C	7249	TSC2	Benign/Likely benign	rs1037449903	RCV000422677\|RCV000545787;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105530	2105530	G	C	16:g.2105530G>C	ClinGen:CA16607278	CN169374 not specified;
NM_000548.5(TSC2):c.599+10G>T	7249	TSC2	Likely benign	rs1037449903	RCV000975915\|RCV001398484;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105530	2105530	G	T	16:g.2105530G>T	-
NM_000548.5(TSC2):c.599+17G>C	7249	TSC2	Benign/Likely benign	rs533989586	RCV000189965\|RCV002054243;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2105537	2105537	G	C	16:g.2105537G>C	ClinGen:CA055484	CN169374 not specified;
NC_000016.10:g.(?_2056176)_(2074415_?)del	7249	TSC2	Pathogenic	-1	RCV000644426;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106177	2124416	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2056176)_(2064447_?)del	7249	TSC2	Pathogenic	-1	RCV000809999;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106177	2114448	na	na		-
NM_000548.5(TSC2):c.600-20G>C	7249	TSC2	Likely benign	-1	RCV002114350;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106177	2106177	G	C	2106177	-
NM_000548.5(TSC2):c.600-18G>A	7249	TSC2	Likely benign	-1	RCV002094424;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106179	2106179	G	A	2106179	-
NM_000548.5(TSC2):c.600-18G>C	7249	TSC2	Likely benign	-1	RCV002206179;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106179	2106179	G	C	2106179	-
NM_000548.5(TSC2):c.600-15C>T	7249	TSC2	Likely benign	rs369708731	RCV000055313\|RCV000601818\|RCV002054886;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106182	2106182	C	T	16:g.2106182C>T	ClinGen:CA022661,Tuberous sclerosis database (TSC2):TSC2_01138	CN169374 not specified;
NM_000548.5(TSC2):c.600-15C>A	7249	TSC2	Likely benign	-1	RCV002201854;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106182	2106182	C	A	2106182	-
NM_000548.5(TSC2):c.600-14G>A	7249	TSC2	Likely benign	-1	RCV002215665;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106183	2106183	G	A	2106183	-
NM_000548.5(TSC2):c.600-10C>T	7249	TSC2	Likely benign	rs1555498511	RCV000644402;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106187	2106187	C	T	16:g.2106187C>T	ClinGen:CA394310475	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.600-9T>A	7249	TSC2	Uncertain significance	-1	RCV001920118;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106188	2106188	T	A	2106188	-
NM_000548.5(TSC2):c.600-7C>T	7249	TSC2	Likely benign	-1	RCV001495168;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106190	2106190	C	T	2106190	-
NM_000548.5(TSC2):c.600-5T>C	7249	TSC2	Likely benign	rs779176291	RCV000930337\|RCV001403359;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106192	2106192	T	C	16:g.2106192T>C	-
NM_000548.5(TSC2):c.600-4G>T	7249	TSC2	Likely benign	-1	RCV002123794;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106193	2106193	G	T	2106193	-
NM_000548.5(TSC2):c.600-2A>T	7249	TSC2	Pathogenic	rs45468592	RCV001329371;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106195	2106195	A	T	2106195	-
NM_000548.5(TSC2):c.600-1G>A	7249	TSC2	Pathogenic	rs45517117	RCV000043169\|RCV000685234;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106196	2106196	G	A	16:g.2106196G>A	ClinGen:CA022665,Tuberous sclerosis database (TSC2):TSC2_00100	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.601A>T (p.Met201Leu)	7249	TSC2	Uncertain significance	rs1596275224	RCV001024810\|RCV001063455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106198	2106198	A	T	16:g.2106198A>T	-
NM_000548.5(TSC2):c.601A>G (p.Met201Val)	7249	TSC2	Uncertain significance	rs1596275224	RCV001217149;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106198	2106198	A	G	16:g.2106198A>G	-
NM_000548.5(TSC2):c.602T>C (p.Met201Thr)	7249	TSC2	Uncertain significance	-1	RCV001931275;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106199	2106199	T	C	2106199	-
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)	7249	TSC2	Uncertain significance	rs45506197	RCV000043148\|RCV000691597\|RCV001024832;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106200	2106200	G	C	16:g.2106200G>C	ClinGen:CA022680,Tuberous sclerosis database (TSC2):TSC2_00362	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.606C>T (p.Ile202=)	7249	TSC2	Likely benign	-1	RCV002201069;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106203	2106203	C	T	2106203	-
NM_000548.5(TSC2):c.609T>C (p.Cys203=)	7249	TSC2	Likely benign	rs1596275256	RCV000980586;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106206	2106206	T	C	16:g.2106206T>C	-
NM_000548.5(TSC2):c.610C>T (p.Leu204=)	7249	TSC2	Likely benign	-1	RCV002156257;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106207	2106207	C	T	2106207	-
NM_000548.5(TSC2):c.613C>G (p.Leu205Val)	7249	TSC2	Uncertain significance	rs1596275276	RCV000799456;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106210	2106210	C	G	16:g.2106210C>G	-
NM_000548.5(TSC2):c.613C>T (p.Leu205=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1596275276	RCV000939323\|RCV001024930\|RCV001814244;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106210	2106210	C	T	16:g.2106210C>T	-
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)	7249	TSC2	Uncertain significance	rs2085789314	RCV001066224;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106211	2106211	T	C	16:g.2106211T>C	-
NM_000548.5(TSC2):c.615G>A (p.Leu205=)	7249	TSC2	Likely benign	rs1596275291	RCV000932614\|RCV001398921;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106212	2106212	G	A	16:g.2106212G>A	-
NM_000548.5(TSC2):c.615G>C (p.Leu205=)	7249	TSC2	Likely benign	-1	RCV001458630;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106212	2106212	G	C	2106212	-
NM_000548.5(TSC2):c.616T>C (p.Cys206Arg)	7249	TSC2	Uncertain significance	rs1596275305	RCV000803803;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106213	2106213	T	C	16:g.2106213T>C	-
NM_000548.5(TSC2):c.617G>A (p.Cys206Tyr)	7249	TSC2	Uncertain significance	-1	RCV001366939;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106214	2106214	G	A	2106214	-
NM_000548.5(TSC2):c.618C>T (p.Cys206=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45498496	RCV000462179\|RCV000715908\|RCV001086082;	N	MedGen:CN517202\|MedGen:C2711754\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106215	2106215	C	T	NC_000016.9:g.2106215C>T	ClinGen:CA055766	CN169374 not specified;
NM_000548.5(TSC2):c.618del (p.Cys206fs)	7249	TSC2	Pathogenic	-1	RCV002007370;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106215	2106215	GC	G	2106214	-
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)	7249	TSC2	Conflicting interpretations of pathogenicity	rs139929314	RCV000729897\|RCV001024992\|RCV001087306;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106216	2106216	G	A	16:g.2106216G>A	ClinGen:CA055776	CN169374 not specified;
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)	7249	TSC2	Conflicting interpretations of pathogenicity	rs374410454	RCV000055314\|RCV000533936\|RCV001553178;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106219	2106219	C	T	16:g.2106219C>T	ClinGen:CA022695,Tuberous sclerosis database (TSC2):TSC2_02129	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.622C>A (p.Arg208=)	7249	TSC2	Uncertain significance	rs374410454	RCV001051030;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106219	2106219	C	A	16:g.2106219C>A	-
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)	7249	TSC2	Benign/Likely benign	rs368386966	RCV001025035\|RCV001510846;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106220	2106220	G	A	16:g.2106220G>A	-
NM_000548.5(TSC2):c.627C>T (p.Thr209=)	7249	TSC2	Benign/Likely benign	rs776293094	RCV000465242\|RCV001025075\|RCV001704367;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106224	2106224	C	T	16:g.2106224C>T	ClinGen:CA055830	CN169374 not specified;
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)	7249	TSC2	Benign/Likely benign	rs147196739	RCV000163340\|RCV000189966\|RCV000229264\|RCV000347186\|RCV001721043;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2106225	2106225	G	A	16:g.2106225G>A	ClinGen:CA022705	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.628G>C (p.Ala210Pro)	7249	TSC2	Uncertain significance	-1	RCV002018547;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106225	2106225	G	C	2106225	-
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)	7249	TSC2	Benign/Likely benign	rs764925296	RCV000167112\|RCV000233190\|RCV001721086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106226	2106226	C	T	16:g.2106226C>T	ClinGen:CA022710	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.629C>G (p.Ala210Gly)	7249	TSC2	Uncertain significance	-1	RCV002025971;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106226	2106226	C	G	2106226	-
NM_000548.5(TSC2):c.630G>A (p.Ala210=)	7249	TSC2	Benign/Likely benign	rs567756494	RCV000227094\|RCV000392629\|RCV000491740\|RCV001711627;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106227	2106227	G	A	NC_000016.9:g.2106227G>A	ClinGen:CA055849	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.630G>C (p.Ala210=)	7249	TSC2	Likely benign	-1	RCV001462373;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106227	2106227	G	C	2106227	-
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)	7249	TSC2	Uncertain significance	rs878854120	RCV000230979\|RCV001025142;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106229	2106229	C	T	NC_000016.9:g.2106229C>T	ClinGen:CA10583283	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.632C>A (p.Ser211Tyr)	7249	TSC2	Uncertain significance	rs878854120	RCV000808653;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106229	2106229	C	A	16:g.2106229C>A	-
NM_000548.5(TSC2):c.633C>G (p.Ser211=)	7249	TSC2	Benign/Likely benign	rs762659998	RCV000644415\|RCV001025148;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106230	2106230	C	G	NC_000016.9:g.2106230C>G	ClinGen:CA492956354	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.633C>T (p.Ser211=)	7249	TSC2	Likely benign	rs762659998	RCV000898787\|RCV001488887;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106230	2106230	C	T	16:g.2106230C>T	-
NM_000548.5(TSC2):c.635C>T (p.Ser212Phe)	7249	TSC2	Uncertain significance	rs2085795216	RCV001240103;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106232	2106232	C	T	16:g.2106232C>T	-
NM_000548.5(TSC2):c.636T>C (p.Ser212=)	7249	TSC2	Likely benign	-1	RCV001505467;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106233	2106233	T	C	2106233	-
NM_000548.5(TSC2):c.637G>A (p.Val213Met)	7249	TSC2	Uncertain significance	rs1060500927	RCV000466914;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106234	2106234	G	A	NC_000016.9:g.2106234G>A	ClinGen:CA16614905	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.641_648+1del	7249	TSC2	Uncertain significance	rs2085795613	RCV001321641;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106236	2106244	TGGACATAGA	T	2106235	-
NM_000548.5(TSC2):c.642C>T (p.Asp214=)	7249	TSC2	Likely benign	-1	RCV001469513;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106239	2106239	C	T	2106239	-
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)	7249	TSC2	Uncertain significance	rs1293515155	RCV000802751\|RCV001759528;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106240	2106240	A	G	16:g.2106240A>G	-
NM_000548.5(TSC2):c.644T>C (p.Ile215Thr)	7249	TSC2	Uncertain significance	rs1555498571	RCV000546698;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106241	2106241	T	C	NC_000016.9:g.2106241T>C	ClinGen:CA394311067	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.645_648del (p.Ile215fs)	7249	TSC2	Pathogenic	rs1596275494	RCV000808105;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106242	2106245	TAGAG	T	16:g.2106242_2106245del	-
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)	7249	TSC2	Uncertain significance	rs45517118	RCV000042639\|RCV000644252;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106243	2106243	G	A	NC_000016.9:g.2106243G>A	ClinGen:CA022720,Tuberous sclerosis database (TSC2):TSC2_00364
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)	7249	TSC2	Pathogenic	rs45517118	RCV000042640\|RCV000201082;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106243	2106243	G	T	16:g.2106243G>T	ClinGen:CA022725,Tuberous sclerosis database (TSC2):TSC2_00803	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln)	7249	TSC2	Uncertain significance	rs45517118	RCV000802146;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106243	2106243	G	C	16:g.2106243G>C	-
NM_000548.5(TSC2):c.648+1G>A	7249	TSC2	Pathogenic	rs45488893	RCV000042670\|RCV000201164;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106246	2106246	G	A	16:g.2106246G>A	ClinGen:CA022731,Tuberous sclerosis database (TSC2):TSC2_00365	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.648+4A>G	7249	TSC2	Uncertain significance	-1	RCV002014582;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106249	2106249	A	G	2106249	-
NM_000548.5(TSC2):c.648+5G>C	7249	TSC2	Uncertain significance	rs2085796888	RCV001044994;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106250	2106250	G	C	16:g.2106250G>C	-
NM_000548.5(TSC2):c.648+5G>A	7249	TSC2	Uncertain significance	-1	RCV002038512;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106250	2106250	G	A	2106250	-
NM_000548.5(TSC2):c.648+6T>C	7249	TSC2	Conflicting interpretations of pathogenicity	rs372007135	RCV000523471\|RCV001086111;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106251	2106251	T	C	NC_000016.9:g.2106251T>C	ClinGen:CA055922
NM_000548.5(TSC2):c.648+7G>C	7249	TSC2	Likely benign	-1	RCV001436635;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106252	2106252	G	C	2106252	-
NM_000548.5(TSC2):c.648+7G>T	7249	TSC2	Likely benign	-1	RCV002119172;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106252	2106252	G	T	2106252	-
NM_000548.5(TSC2):c.648+9C>T	7249	TSC2	Benign	rs756588732	RCV000477601;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106254	2106254	C	T	NC_000016.9:g.2106254C>T	ClinGen:CA055929	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.648+9C>G	7249	TSC2	Likely benign	rs756588732	RCV000902146;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106254	2106254	C	G	16:g.2106254C>G	-
NM_000548.5(TSC2):c.648+10T>C	7249	TSC2	Likely benign	-1	RCV001399763;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106255	2106255	T	C	2106255	-
NM_000548.5(TSC2):c.648+11C>G	7249	TSC2	Likely benign	-1	RCV002159212;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106256	2106256	C	G	2106256	-
NM_000548.5(TSC2):c.648+12C>A	7249	TSC2	Likely benign	-1	RCV002194893;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106257	2106257	C	A	2106257	-
NM_000548.5(TSC2):c.648+13C>A	7249	TSC2	Likely benign	-1	RCV002139678;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106258	2106258	C	A	2106258	-
NM_000548.5(TSC2):c.648+13C>T	7249	TSC2	Likely benign	-1	RCV002157072;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106258	2106258	C	T	2106258	-
NM_000548.5(TSC2):c.648+14C>T	7249	TSC2	Likely benign	rs941595244	RCV000430696\|RCV002059880;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106259	2106259	C	T	16:g.2106259C>T	ClinGen:CA16607283	CN169374 not specified;
NM_000548.5(TSC2):c.648+17C>A	7249	TSC2	Likely benign	rs755431618	RCV000427744\|RCV002059606;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106262	2106262	C	A	16:g.2106262C>A	ClinGen:CA055880	CN169374 not specified;
NM_000548.5(TSC2):c.648+18C>T	7249	TSC2	Likely benign	-1	RCV002127541;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106263	2106263	C	T	2106263	-
NM_000548.5(TSC2):c.648+19C>T	7249	TSC2	Likely benign	rs1196860918	RCV000616975\|RCV002062999;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106264	2106264	C	T	16:g.2106264C>T	ClinGen:CA658798473	CN169374 not specified;
NM_000548.5(TSC2):c.648+19C>G	7249	TSC2	Likely benign	-1	RCV002091357;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106264	2106264	C	G	2106264	-
NC_000016.9:g.(?_2106344)_(2107114_?)del	7249	TSC2	Pathogenic	-1	RCV002044931;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106344	2107114	na	na	-1	-
NM_000548.5(TSC2):c.649-20G>A	7249	TSC2	Benign/Likely benign	rs377558380	RCV000444158\|RCV002061547;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106625	2106625	G	A	16:g.2106625G>A	ClinGen:CA055938	CN169374 not specified;
NM_000548.5(TSC2):c.649-20G>T	7249	TSC2	Likely benign	-1	RCV002144300;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106625	2106625	G	T	2106625	-
NM_000548.5(TSC2):c.649-18C>T	7249	TSC2	Benign/Likely benign	-1	RCV001679881\|RCV002073190;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106627	2106627	C	T	2106627	-
NM_000548.5(TSC2):c.649-18C>A	7249	TSC2	Likely benign	-1	RCV002134315;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106627	2106627	C	A	2106627	-
NM_000548.5(TSC2):c.649-17G>A	7249	TSC2	Likely benign	-1	RCV002178440;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106628	2106628	G	A	2106628	-
NM_000548.5(TSC2):c.649-16T>C	7249	TSC2	Likely benign	-1	RCV002074893;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106629	2106629	T	C	2106629	-
NM_000548.5(TSC2):c.649-11C>G	7249	TSC2	Likely benign	-1	RCV002136189;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106634	2106634	C	G	2106634	-
NM_000548.5(TSC2):c.649-9C>G	7249	TSC2	Benign/Likely benign	rs781099543	RCV000534873\|RCV001613358;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106636	2106636	C	G	16:g.2106636C>G	ClinGen:CA056040	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-9C>T	7249	TSC2	Likely benign	-1	RCV001418819;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106636	2106636	C	T	2106636	-
NM_000548.5(TSC2):c.649-8T>C	7249	TSC2	Likely benign	-1	RCV001428778;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106637	2106637	T	C	2106637	-
NM_000548.5(TSC2):c.649-7C>A	7249	TSC2	Uncertain significance	rs1596277822	RCV000811764;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106638	2106638	C	A	16:g.2106638C>A	-
NM_000548.5(TSC2):c.649-6C>T	7249	TSC2	Likely benign	-1	RCV001437683;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106639	2106639	C	T	2106639	-
NM_000548.5(TSC2):c.649-5A>T	7249	TSC2	Likely benign	rs1555498745	RCV000559114\|RCV001401881;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106640	2106640	A	T	NC_000016.9:g.2106640A>T	ClinGen:CA658658354	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-4C>T	7249	TSC2	Likely benign	rs1329743344	RCV000644319;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106641	2106641	C	T	NC_000016.9:g.2106641C>T	ClinGen:CA620373170	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-1G>A	7249	TSC2	Likely pathogenic	rs794727906	RCV000660340;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106644	2106644	G	A	NC_000016.9:g.2106644G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649G>C (p.Val217Leu)	7249	TSC2	Uncertain significance	rs1567407896	RCV000701842;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106645	2106645	G	C	16:g.2106645G>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)	7249	TSC2	Uncertain significance	-1	RCV002027146;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106645	2106645	G	A	2106645	-
NM_000548.5(TSC2):c.651C>G (p.Val217=)	7249	TSC2	Likely benign	rs780004703	RCV000876282;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106647	2106647	C	G	16:g.2106647C>G	-
NM_000548.5(TSC2):c.651C>A (p.Val217=)	7249	TSC2	Likely benign	-1	RCV002212872;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106647	2106647	C	A	2106647	-
NM_000548.5(TSC2):c.655C>T (p.Leu219=)	7249	TSC2	Benign/Likely benign	rs369046625	RCV000566623\|RCV000644292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106651	2106651	C	T	16:g.2106651C>T	ClinGen:CA056061	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)	7249	TSC2	Uncertain significance	-1	RCV001954399;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106651	2106651	C	G	2106651	-
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)	7249	TSC2	Uncertain significance	rs397515249	RCV000055561\|RCV001053191;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106652	2106652	T	C	16:g.2106652T>C	ClinGen:CA022749,Tuberous sclerosis database (TSC2):TSC2_02012	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.657G>A (p.Leu219=)	7249	TSC2	Benign/Likely benign	rs768570301	RCV000442911\|RCV000547338\|RCV001025430;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106653	2106653	G	A	16:g.2106653G>A	ClinGen:CA056065	CN169374 not specified;
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)	7249	TSC2	Pathogenic	rs45517119	RCV000042671\|RCV000520962\|RCV000699187;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106654	2106654	C	T	NC_000016.9:g.2106654C>T	ClinGen:CA022760,Tuberous sclerosis database (TSC2):TSC2_00366
NM_000548.5(TSC2):c.658C>G (p.Gln220Glu)	7249	TSC2	Uncertain significance	rs45517119	RCV000685632;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106654	2106654	C	G	16:g.2106654C>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.661G>A (p.Val221Met)	7249	TSC2	Uncertain significance	rs1567408059	RCV000694031;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106657	2106657	G	A	NC_000016.9:g.2106657G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.663G>A (p.Val221=)	7249	TSC2	Benign/Likely benign	rs774115464	RCV000190051\|RCV000983864\|RCV001025485;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106659	2106659	G	A	NC_000016.9:g.2106659G>A	ClinGen:CA056077	CN169374 not specified;
NM_000548.5(TSC2):c.664C>T (p.Leu222=)	7249	TSC2	Likely benign	-1	RCV001472603;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106660	2106660	C	T	2106660	-
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)	7249	TSC2	Uncertain significance	rs45517120	RCV000042641\|RCV001852883;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106661	2106661	T	C	16:g.2106661T>C	ClinGen:CA022775,Tuberous sclerosis database (TSC2):TSC2_00804	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.666G>A (p.Leu222=)	7249	TSC2	Likely benign	rs761351907	RCV000932389\|RCV001498074;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106662	2106662	G	A	16:g.2106662G>A	-
NM_000548.5(TSC2):c.667G>A (p.Asp223Asn)	7249	TSC2	Uncertain significance	-1	RCV002022867;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106663	2106663	G	A	2106663	-
NM_000548.5(TSC2):c.669C>T (p.Asp223=)	7249	TSC2	Benign/Likely benign	rs35501344	RCV000472417\|RCV001025543\|RCV001778969;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106665	2106665	C	T	NC_000016.9:g.2106665C>T	ClinGen:CA056094	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs772558666	RCV000528200\|RCV001770447;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2106666	2106666	G	A	16:g.2106666G>A	ClinGen:CA056104	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.670G>T (p.Ala224Ser)	7249	TSC2	Uncertain significance	rs772558666	RCV001226297;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106666	2106666	G	T	16:g.2106666G>T	-
NM_000548.5(TSC2):c.671C>T (p.Ala224Val)	7249	TSC2	Uncertain significance	-1	RCV002007796;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106667	2106667	C	T	2106667	-
NM_000548.5(TSC2):c.672C>T (p.Ala224=)	7249	TSC2	Benign/Likely benign	rs138897064	RCV000464750\|RCV000561692\|RCV001696905;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106668	2106668	C	T	NC_000016.9:g.2106668C>T	ClinGen:CA056111	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.673G>A (p.Val225Met)	7249	TSC2	Conflicting interpretations of pathogenicity	rs142919353	RCV000466214\|RCV000572112;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106669	2106669	G	A	NC_000016.9:g.2106669G>A	ClinGen:CA056118	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.673G>T (p.Val225Leu)	7249	TSC2	Uncertain significance	rs142919353	RCV000685449;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106669	2106669	G	T	16:g.2106669G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)	7249	TSC2	Uncertain significance	rs1437259556	RCV001025611\|RCV001221065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106670	2106670	T	C	16:g.2106670T>C	-
NM_000548.5(TSC2):c.674T>A (p.Val225Glu)	7249	TSC2	Uncertain significance	rs1437259556	RCV001313096;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106670	2106670	T	A	2106670	-
NM_000548.5(TSC2):c.675G>A (p.Val225=)	7249	TSC2	Likely benign	-1	RCV001409759;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106671	2106671	G	A	2106671	-
NM_000548.5(TSC2):c.676G>C (p.Val226Leu)	7249	TSC2	Uncertain significance	rs2085881555	RCV001224304;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106672	2106672	G	C	16:g.2106672G>C	-
NM_000548.5(TSC2):c.678C>T (p.Val226=)	7249	TSC2	Likely benign	-1	RCV001479247;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106674	2106674	C	T	2106674	-
NM_000548.5(TSC2):c.679T>G (p.Cys227Gly)	7249	TSC2	Uncertain significance	rs753197543	RCV001299291;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106675	2106675	T	G	2106675	-
NM_000548.5(TSC2):c.681C>T (p.Cys227=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45443205	RCV000043158\|RCV000427770\|RCV000571297\|RCV000727275\|RCV001082427;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106677	2106677	C	T	16:g.2106677C>T	ClinGen:CA022794,Tuberous sclerosis database (TSC2):TSC2_00945	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter)	7249	TSC2	Pathogenic	rs1567408314	RCV000700694;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106678	2106679	T	TA	16:g.2106678_2106679insA	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)	7249	TSC2	Uncertain significance	rs2085882405	RCV001309775;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106679	2106679	A	G	2106679	-
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)	7249	TSC2	Likely benign	rs397515034	RCV000864938;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106680	2106680	C	T	16:g.2106680C>T	-
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1555498800	RCV000536042\|RCV001025745;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106682	2106682	A	G	NC_000016.9:g.2106682A>G	ClinGen:CA394312549	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.688T>C (p.Cys230Arg)	7249	TSC2	Uncertain significance	rs1043187800	RCV001056878;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106684	2106684	T	C	16:g.2106684T>C	-
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)	7249	TSC2	Uncertain significance	rs1043187800	RCV001206583;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106684	2106684	T	A	16:g.2106684T>A	-
NM_000548.5(TSC2):c.691_692dup (p.Pro232fs)	7249	TSC2	Pathogenic	-1	RCV001999926;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106686	2106687	C	CCT	2106686	-
NM_000548.5(TSC2):c.691C>T (p.Leu231=)	7249	TSC2	Likely benign	rs1555498820	RCV000548243;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106687	2106687	C	T	NC_000016.9:g.2106687C>T	ClinGen:CA492957099	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)	7249	TSC2	Uncertain significance	rs751846529	RCV000458732;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106690	2106690	C	T	NC_000016.9:g.2106690C>T	ClinGen:CA056156	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs760100924	RCV000575507\|RCV000686831\|RCV001115886\|RCV001538849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2106691	2106691	C	T	16:g.2106691C>T	ClinGen:CA056163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.696G>A (p.Pro232=)	7249	TSC2	Benign/Likely benign	rs539797467	RCV000460295\|RCV000572090\|RCV001721497;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106692	2106692	G	A	NC_000016.9:g.2106692G>A	ClinGen:CA056169	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.697G>T (p.Ala233Ser)	7249	TSC2	Uncertain significance	rs1567408479	RCV000699433;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106693	2106693	G	T	16:g.2106693G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.698C>G (p.Ala233Gly)	7249	TSC2	Uncertain significance	rs1555498839	RCV000528797;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106694	2106694	C	G	NC_000016.9:g.2106694C>G	ClinGen:CA394312631	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.699T>C (p.Ala233=)	7249	TSC2	Likely benign	rs1596278327	RCV000934405\|RCV001409126;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106695	2106695	T	C	16:g.2106695T>C	-
NM_000548.5(TSC2):c.699T>G (p.Ala233=)	7249	TSC2	Likely benign	-1	RCV001417244;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106695	2106695	T	G	2106695	-
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)	7249	TSC2	Uncertain significance	rs397515018	RCV000793792\|RCV001796781;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106696	2106696	G	C	16:g.2106696G>C	-
NM_000548.5(TSC2):c.703A>G (p.Ser235Gly)	7249	TSC2	Uncertain significance	rs1567408536	RCV000691661;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106699	2106699	A	G	16:g.2106699A>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)	7249	TSC2	Benign/Likely benign	rs397514957	RCV000055145\|RCV000570091\|RCV000865248;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106700	2106700	G	A	16:g.2106700G>A	ClinGen:CA022820,Tuberous sclerosis database (TSC2):TSC2_01216	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.710dup (p.Leu238fs)	7249	TSC2	Pathogenic	rs397515166	RCV000644125;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106703	2106704	T	TC	NC_000016.9:g.2106706dup	ClinGen:CA658798474	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1596278377	RCV001026014\|RCV001862350;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106703	2106703	T	C	16:g.2106703T>C	-
NM_000548.5(TSC2):c.707_708delinsCT (p.Leu236Pro)	7249	TSC2	Uncertain significance	rs2085886566	RCV001231521;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106703	2106704	TC	CT	NC_000016.9:g.2106703_2106704delinsCT	-
NM_000548.5(TSC2):c.708C>T (p.Leu236=)	7249	TSC2	Benign/Likely benign	rs756121647	RCV000163449\|RCV000307587\|RCV000658730\|RCV001079536;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106704	2106704	C	T	16:g.2106704C>T	ClinGen:CA022830	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.709C>G (p.Pro237Ala)	7249	TSC2	Uncertain significance	rs1555498859	RCV001203242;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106705	2106705	C	G	16:g.2106705C>G	-
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)	7249	TSC2	Benign/Likely benign	rs139060277	RCV000190052\|RCV000227699\|RCV001026051;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106706	2106706	C	T	NC_000016.9:g.2106706C>T	ClinGen:CA056182	CN169374 not specified;
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg)	7249	TSC2	Uncertain significance	rs139060277	RCV000573510\|RCV001238459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106706	2106706	C	G	NC_000016.9:g.2106706C>G	ClinGen:CA394312711	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.710C>A (p.Pro237Gln)	7249	TSC2	Uncertain significance	rs139060277	RCV001055262;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106706	2106706	C	A	16:g.2106706C>A	-
NM_000548.5(TSC2):c.711G>A (p.Pro237=)	7249	TSC2	Benign	rs189380607	RCV000541543;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106707	2106707	G	A	NC_000016.9:g.2106707G>A	ClinGen:CA056185	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.712C>T (p.Leu238=)	7249	TSC2	Likely benign	-1	RCV002165960;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106708	2106708	C	T	2106708	-
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)	7249	TSC2	Uncertain significance	rs768623382	RCV000809469\|RCV001026083;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106709	2106709	T	C	16:g.2106709T>C	-
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)	7249	TSC2	Benign/Likely benign	rs778544723	RCV000464650\|RCV001721234;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106712	2106712	T	G	NC_000016.9:g.2106712T>G	ClinGen:CA056200	CN169374 not specified;
NM_000548.5(TSC2):c.718_720del (p.Ile240del)	7249	TSC2	Uncertain significance	-1	RCV002007814;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106712	2106714	TTCA	T	2106711	-
NM_000548.5(TSC2):c.717C>A (p.Phe239Leu)	7249	TSC2	Uncertain significance	rs1567408727	RCV001048016;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106713	2106713	C	A	16:g.2106713C>A	-
NM_000548.5(TSC2):c.717C>T (p.Phe239=)	7249	TSC2	Likely benign	-1	RCV001396938;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106713	2106713	C	T	2106713	-
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)	7249	TSC2	Uncertain significance	rs796053482	RCV000801305;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106714	2106714	A	G	16:g.2106714A>G	-
NM_000548.5(TSC2):c.718A>T (p.Ile240Phe)	7249	TSC2	Uncertain significance	rs796053482	RCV000471121;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106714	2106714	A	T	NC_000016.9:g.2106714A>T	ClinGen:CA16614690	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.720C>T (p.Ile240=)	7249	TSC2	Benign/Likely benign	rs45517123	RCV000043176\|RCV000477220\|RCV000609500\|RCV001026159\|RCV001815176;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106716	2106716	C	T	16:g.2106716C>T	ClinGen:CA022859,Tuberous sclerosis database (TSC2):TSC2_00305	CN169374 not specified;
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)	7249	TSC2	Benign/Likely benign	rs200943828	RCV000554001\|RCV000572855\|RCV001712292\|RCV001797720;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MedGen:CN169374	16	2106717	2106717	G	A	16:g.2106717G>A	ClinGen:CA056228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)	7249	TSC2	Uncertain significance	rs200943828	RCV000644255\|RCV001756076;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106717	2106717	G	C	NC_000016.9:g.2106717G>C	ClinGen:CA394312728	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.722T>C (p.Val241Ala)	7249	TSC2	Uncertain significance	-1	RCV001365152;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106718	2106718	T	C	2106718	-
NM_000548.5(TSC2):c.724dup (p.Thr242fs)	7249	TSC2	Pathogenic	rs397515256	RCV000055569\|RCV001058718;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106719	2106720	T	TA	16:g.2106719_2106720insA	ClinGen:CA022864,Tuberous sclerosis database (TSC2):TSC2_02333	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.725C>T (p.Thr242Ile)	7249	TSC2	Uncertain significance	rs1007232729	RCV000794968;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106721	2106721	C	T	16:g.2106721C>T	-
NM_000548.5(TSC2):c.725C>A (p.Thr242Asn)	7249	TSC2	Uncertain significance	-1	RCV001364267;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106721	2106721	C	A	2106721	-
NM_000548.5(TSC2):c.726C>T (p.Thr242=)	7249	TSC2	Benign/Likely benign	rs570051626	RCV000251683\|RCV001026217\|RCV000525190\|RCV001640487;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106722	2106722	C	T	NC_000016.9:g.2106722C>T	ClinGen:CA056233	CN169374 not specified;
NM_000548.5(TSC2):c.727C>G (p.Leu243Val)	7249	TSC2	Uncertain significance	rs796053502	RCV000230600;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106723	2106723	C	G	NC_000016.9:g.2106723C>G	ClinGen:CA10583284	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.729C>G (p.Leu243=)	7249	TSC2	Benign/Likely benign	rs45473698	RCV000042642\|RCV000163296\|RCV000180175\|RCV000204102\|RCV001811309;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106725	2106725	C	G	16:g.2106725C>G	ClinGen:CA022884,Tuberous sclerosis database (TSC2):TSC2_00122	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.729C>T (p.Leu243=)	7249	TSC2	Benign/Likely benign	rs45473698	RCV000931957\|RCV001026241\|RCV001470664;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106725	2106725	C	T	16:g.2106725C>T	-
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)	7249	TSC2	Conflicting interpretations of pathogenicity	rs375574283	RCV000472885\|RCV000565481\|RCV001584139;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2106729	2106729	C	T	NC_000016.9:g.2106729C>T	ClinGen:CA056249	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)	7249	TSC2	Uncertain significance	rs375574283	RCV000542183\|RCV001026291;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106729	2106729	C	G	NC_000016.9:g.2106729C>G	ClinGen:CA394312748	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.734G>A (p.Arg245His)	7249	TSC2	Benign/Likely benign	rs397515011	RCV000055226\|RCV000248644\|RCV000570250\|RCV000234531;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106730	2106730	G	A	16:g.2106730G>A	ClinGen:CA022905,Tuberous sclerosis database (TSC2):TSC2_02052	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.735C>T (p.Arg245=)	7249	TSC2	Likely benign	rs763419528	RCV000464967;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106731	2106731	C	T	NC_000016.9:g.2106731C>T	ClinGen:CA056266	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)	7249	TSC2	Conflicting interpretations of pathogenicity	rs137854123	RCV000042644\|RCV000554931\|RCV000612409;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2106732	2106732	A	G	16:g.2106732A>G	ClinGen:CA022910,Tuberous sclerosis database (TSC2):TSC2_01100	CN169374 not specified;
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs774526017	RCV000405414\|RCV000433208\|RCV000465522;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106735	2106735	A	G	NC_000016.9:g.2106735A>G	ClinGen:CA056277	CN169374 not specified;
NM_000548.5(TSC2):c.741C>T (p.Ile247=)	7249	TSC2	Likely benign	-1	RCV001399131;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106737	2106737	C	T	2106737	-
NM_000548.5(TSC2):c.743A>T (p.Asn248Ile)	7249	TSC2	Uncertain significance	rs762104739	RCV000477259;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106739	2106739	A	T	NC_000016.9:g.2106739A>T	ClinGen:CA16614645	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)	7249	TSC2	Conflicting interpretations of pathogenicity	rs762104739	RCV000644409\|RCV001026437;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106739	2106739	A	G	16:g.2106739A>G	ClinGen:CA056283	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.744C>T (p.Asn248=)	7249	TSC2	Benign/Likely benign	rs767565673	RCV000467885\|RCV001026446;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106740	2106740	C	T	NC_000016.9:g.2106740C>T	ClinGen:CA056290	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)	7249	TSC2	Uncertain significance	rs750649974	RCV000703235\|RCV001026461;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106741	2106741	G	A	16:g.2106741G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)	7249	TSC2	Uncertain significance	rs750649974	RCV000691727\|RCV001026462;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2106741	2106741	G	C	NC_000016.9:g.2106741G>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)	7249	TSC2	Uncertain significance	rs1596278719	RCV000796617;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106742	2106742	T	C	16:g.2106742T>C	-
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)	7249	TSC2	Uncertain significance	rs2085894886	RCV001061281;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106744	2106744	A	G	16:g.2106744A>G	-
NM_000548.5(TSC2):c.749A>G (p.Lys250Arg)	7249	TSC2	Uncertain significance	-1	RCV001891849;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106745	2106745	A	G	2106745	-
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)	7249	TSC2	Uncertain significance	rs1114167465	RCV000530979;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106747	2106747	G	A	NC_000016.9:g.2106747G>A	ClinGen:CA394312779	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.754C>A (p.Leu252Ile)	7249	TSC2	Uncertain significance	rs766770734	RCV000685902;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106750	2106750	C	A	16:g.2106750C>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.756C>G (p.Leu252=)	7249	TSC2	Likely benign	rs1026303888	RCV000943645\|RCV001421636;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106752	2106752	C	G	16:g.2106752C>G	-
NM_000548.5(TSC2):c.756C>T (p.Leu252=)	7249	TSC2	Likely benign	rs1026303888	RCV000937372\|RCV001494366;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106752	2106752	C	T	16:g.2106752C>T	-
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)	7249	TSC2	Uncertain significance	rs766547457	RCV000543169;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106754	2106754	G	T	NC_000016.9:g.2106754G>T	ClinGen:CA394312795	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr)	7249	TSC2	Benign	rs766547457	RCV000917318;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106754	2106754	G	A	16:g.2106754G>A	-
NM_000548.5(TSC2):c.759C>T (p.Cys253=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517125	RCV000467398\|RCV001026603\|RCV001088133;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106755	2106755	C	T	16:g.2106755C>T	ClinGen:CA056333	CN169374 not specified;
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)	7249	TSC2	Benign/Likely benign	rs45517126	RCV000055452\|RCV000190054\|RCV000571293\|RCV000228440\|RCV001531837;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2106756	2106756	G	A	16:g.2106756G>A	ClinGen:CA022920,Tuberous sclerosis database (TSC2):TSC2_02053	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.762G>A (p.Glu254=)	7249	TSC2	Likely benign	-1	RCV001427095;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106758	2106758	G	A	2106758	-
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs)	7249	TSC2	Pathogenic	rs1567409292	RCV000687442;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106760	2106761	C	CTT	NC_000016.9:g.2106761_2106762dup	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.764C>A (p.Pro255His)	7249	TSC2	Uncertain significance	-1	RCV002001425;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106760	2106760	C	A	2106760	-
NM_000548.5(TSC2):c.767G>T (p.Cys256Phe)	7249	TSC2	Uncertain significance	rs1567409304	RCV000706450;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106763	2106763	G	T	16:g.2106763G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.768C>T (p.Cys256=)	7249	TSC2	Benign	rs45517127	RCV000555586;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106764	2106764	C	T	NC_000016.9:g.2106764C>T	ClinGen:CA056350	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.768C>G (p.Cys256Trp)	7249	TSC2	Uncertain significance	-1	RCV001915998;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106764	2106764	C	G	2106764	-
NM_000548.5(TSC2):c.769del (p.Trp257fs)	7249	TSC2	Pathogenic	rs2085898708	RCV001211842;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106765	2106765	CT	C	16:g.2106765_2106765del	-
NM_000548.5(TSC2):c.774+1G>A	7249	TSC2	Pathogenic	rs45517128	RCV000043186\|RCV000423250\|RCV001037395;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106771	2106771	G	A	NC_000016.9:g.2106771G>A	ClinGen:CA022937,Tuberous sclerosis database (TSC2):TSC2_00805
NM_000548.5(TSC2):c.774+3G>C	7249	TSC2	Uncertain significance	-1	RCV001928384;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106773	2106773	G	C	2106773	-
NM_000548.5(TSC2):c.774+4G>A	7249	TSC2	Benign	rs1244859914	RCV000531916;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106774	2106774	G	A	NC_000016.9:g.2106774G>A	ClinGen:CA658658357	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.774+4G>C	7249	TSC2	Uncertain significance	-1	RCV001902904;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106774	2106774	G	C	2106774	-
NM_000548.5(TSC2):c.774+12G>A	7249	TSC2	Likely benign	-1	RCV002071584;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106782	2106782	G	A	2106782	-
NM_000548.5(TSC2):c.774+15A>T	7249	TSC2	Likely benign	-1	RCV002193304;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2106785	2106785	A	T	2106785	-
NM_000548.5(TSC2):c.775-17C>T	7249	TSC2	Likely benign	rs137854299	RCV000434978\|RCV002061548;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107089	2107089	C	T	16:g.2107089C>T	ClinGen:CA056417	CN169374 not specified;
NM_000548.5(TSC2):c.775-16G>A	7249	TSC2	Likely benign	-1	RCV002095868;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107090	2107090	G	A	2107090	-
NM_000548.5(TSC2):c.775-14_775-13del	7249	TSC2	Likely benign	rs1555499015	RCV000608538\|RCV002062898;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107092	2107093	CAT	C	16:g.2107092_2107093del	ClinGen:CA658798476	CN169374 not specified;
NM_000548.5(TSC2):c.775-14A>G	7249	TSC2	Likely benign	-1	RCV002138462;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107092	2107092	A	G	2107092	-
NM_000548.5(TSC2):c.775-12T>C	7249	TSC2	Likely benign	-1	RCV001649792\|RCV002073020;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107094	2107094	T	C	2107094	-
NM_000548.5(TSC2):c.775-10T>G	7249	TSC2	Uncertain significance	rs1555499018	RCV000544379;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107096	2107096	T	G	NC_000016.9:g.2107096T>G	ClinGen:CA658658358	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-9G>A	7249	TSC2	Likely benign	rs1596280442	RCV000938908;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107097	2107097	G	A	16:g.2107097G>A	-
NM_000548.5(TSC2):c.775-9G>C	7249	TSC2	Likely benign	-1	RCV002216051;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107097	2107097	G	C	2107097	-
NM_000548.5(TSC2):c.775-7C>G	7249	TSC2	Likely benign	-1	RCV001502385;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107099	2107099	C	G	2107099	-
NM_000548.5(TSC2):c.775-5C>T	7249	TSC2	Conflicting interpretations of pathogenicity	rs181827303	RCV000232338\|RCV001117342\|RCV001086775\|RCV001026786;	N	MedGen:CN517202\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2107101	2107101	C	T	NC_000016.9:g.2107101C>T	ClinGen:CA10583285	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-5C>G	7249	TSC2	Likely benign	rs181827303	RCV000644330;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107101	2107101	C	G	NC_000016.9:g.2107101C>G	ClinGen:CA658798477	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-4G>A	7249	TSC2	Benign/Likely benign	rs754957491	RCV000163888\|RCV000457384\|RCV001657912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2107102	2107102	G	A	16:g.2107102G>A	ClinGen:CA022971	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.775-3C>A	7249	TSC2	Uncertain significance	rs397514909	RCV001205115;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107103	2107103	C	A	16:g.2107103C>A	-
NM_000548.5(TSC2):c.775-1G>A	7249	TSC2	Likely pathogenic	rs45454192	RCV000043251\|RCV001237072;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107105	2107105	G	A	16:g.2107105G>A	ClinGen:CA022965,Tuberous sclerosis database (TSC2):TSC2_00158	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.775-1G>C	7249	TSC2	Pathogenic	rs45454192	RCV001262864;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107105	2107105	G	C	16:g.2107105G>C	-
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)	7249	TSC2	Uncertain significance	rs2085953921	RCV001223777;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107109	2107109	A	T	16:g.2107109A>T	-
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)	7249	TSC2	Benign/Likely benign	rs45517130	RCV000042646\|RCV000055120\|RCV000571475\|RCV000841881\|RCV001080453;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107112	2107112	C	T	NC_000016.9:g.2107112C>T	ClinGen:CA022976,UniProtKB:P49815#VAR_009419,Tuberous sclerosis database (TSC2):TSC2_00159	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)	7249	TSC2	Uncertain significance	rs45517130	RCV000537091\|RCV001026846;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2107112	2107112	C	G	NC_000016.9:g.2107112C>G	ClinGen:CA394312974	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45502703	RCV000190055\|RCV000572337\|RCV001084043;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107113	2107113	G	A	NC_000016.9:g.2107113G>A	ClinGen:CA319570
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)	7249	TSC2	Pathogenic	rs2085955298	RCV001194691;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107113	2107114	G	GT	16:g.2107113_2107114insT	-
NM_000548.5(TSC2):c.782G>T (p.Arg261Leu)	7249	TSC2	Uncertain significance	-1	RCV001990357;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107113	2107113	G	T	2107113	-
NM_000548.5(TSC2):c.785A>T (p.Asn262Ile)	7249	TSC2	Uncertain significance	rs2085955900	RCV001296545;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107116	2107116	A	T	2107116	-
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)	7249	TSC2	Uncertain significance	rs1485087555	RCV001302613;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107117	2107117	C	A	2107117	-
NM_000548.5(TSC2):c.786C>T (p.Asn262=)	7249	TSC2	Likely benign	-1	RCV001418706;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107117	2107117	C	T	2107117	-
NM_000548.5(TSC2):c.787C>T (p.Leu263Phe)	7249	TSC2	Uncertain significance	-1	RCV002012331;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107118	2107118	C	T	2107118	-
NM_000548.5(TSC2):c.789C>T (p.Leu263=)	7249	TSC2	Likely benign	-1	RCV001476655;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107120	2107120	C	T	2107120	-
NM_000548.5(TSC2):c.790C>T (p.Leu264Phe)	7249	TSC2	Uncertain significance	rs2085956949	RCV001239986;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107121	2107121	C	T	16:g.2107121C>T	-
NM_000548.5(TSC2):c.793G>A (p.Gly265Ser)	7249	TSC2	Uncertain significance	rs1567410457	RCV000695465;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107124	2107124	G	A	NC_000016.9:g.2107124G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)	7249	TSC2	Uncertain significance	-1	RCV002034388;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107125	2107125	G	T	2107125	-
NM_000548.5(TSC2):c.796A>G (p.Thr266Ala)	7249	TSC2	Uncertain significance	-1	RCV001361738;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107127	2107127	A	G	2107127	-
NM_000548.5(TSC2):c.798C>A (p.Thr266=)	7249	TSC2	Likely benign	-1	RCV001487220;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107129	2107129	C	A	2107129	-
NM_000548.5(TSC2):c.802C>T (p.Leu268=)	7249	TSC2	Likely benign	-1	RCV001424397;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107133	2107133	C	T	2107133	-
NM_000548.5(TSC2):c.802C>G (p.Leu268Val)	7249	TSC2	Uncertain significance	-1	RCV001987573;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107133	2107133	C	G	2107133	-
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)	7249	TSC2	Uncertain significance	rs2085959207	RCV001068528;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107134	2107134	T	G	16:g.2107134T>G	-
NM_000548.5(TSC2):c.804G>A (p.Leu268=)	7249	TSC2	Uncertain significance	-1	RCV001372332;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107135	2107135	G	A	2107135	-
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)	7249	TSC2	Uncertain significance	rs1596280654	RCV001027127\|RCV001043328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107136	2107136	G	A	16:g.2107136G>A	-
NM_000548.5(TSC2):c.807C>T (p.Gly269=)	7249	TSC2	Benign/Likely benign	rs1297815371	RCV000545305\|RCV000574665\|RCV001569675;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2107138	2107138	C	T	NC_000016.9:g.2107138C>T	ClinGen:CA492958276	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.807C>A (p.Gly269=)	7249	TSC2	Likely benign	rs1297815371	RCV000937193\|RCV001394052;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107138	2107138	C	A	16:g.2107138C>A	-
NM_000548.5(TSC2):c.810_811dup (p.Ser271fs)	7249	TSC2	Pathogenic	-1	RCV001384635;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107138	2107139	C	CCA	2107138	-
NM_000548.5(TSC2):c.810C>T (p.His270=)	7249	TSC2	Likely benign	rs1596280678	RCV000933946;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107141	2107141	C	T	16:g.2107141C>T	-
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)	7249	TSC2	Uncertain significance	rs1555499071	RCV000557721;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107142	2107142	A	G	NC_000016.9:g.2107142A>G	ClinGen:CA394313169	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.813C>T (p.Ser271=)	7249	TSC2	Likely benign	rs752676212	RCV000644370;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107144	2107144	C	T	NC_000016.9:g.2107144C>T	ClinGen:CA056443	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs373818076	RCV000435776\|RCV000229042\|RCV000570779\|RCV001086224;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107145	2107145	G	A	NC_000016.9:g.2107145G>A	ClinGen:CA056449	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)	7249	TSC2	Uncertain significance	rs373818076	RCV000699437;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107145	2107145	G	T	16:g.2107145G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.816C>A (p.Ala272=)	7249	TSC2	Likely benign	rs917246659	RCV000644354;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107147	2107147	C	A	NC_000016.9:g.2107147C>A	ClinGen:CA492958368	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.816C>T (p.Ala272=)	7249	TSC2	Likely benign	-1	RCV001418134;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107147	2107147	C	T	2107147	-
NM_000548.5(TSC2):c.816C>G (p.Ala272=)	7249	TSC2	Likely benign	-1	RCV001435563;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107147	2107147	C	G	2107147	-
NM_000548.5(TSC2):c.817A>G (p.Ile273Val)	7249	TSC2	Uncertain significance	-1	RCV001372080;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107148	2107148	A	G	2107148	-
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)	7249	TSC2	Uncertain significance	rs367642937	RCV000465565;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107151	2107151	T	G	NC_000016.9:g.2107151T>G	ClinGen:CA056457	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)	7249	TSC2	Uncertain significance	rs1305592691	RCV000567862\|RCV001035509;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107152	2107152	A	G	16:g.2107152A>G	ClinGen:CA394313259	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)	7249	TSC2	Likely benign	-1	RCV001433918;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107153	2107153	C	T	2107153	-
NM_000548.5(TSC2):c.826_827del (p.Met276fs)	7249	TSC2	Pathogenic	rs137853977	RCV000042707\|RCV000180518\|RCV000312270;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2107157	2107158	CAT	C	NC_000016.9:g.2107157_2107158del	ClinGen:CA023003,Tuberous sclerosis database (TSC2):TSC2_00131
NM_000548.5(TSC2):c.827T>C (p.Met276Thr)	7249	TSC2	Uncertain significance	rs1281538226	RCV000705751;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107158	2107158	T	C	NC_000016.9:g.2107158T>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)	7249	TSC2	Uncertain significance	rs1318274503	RCV000538015\|RCV001779000;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2107159	2107159	G	A	NC_000016.9:g.2107159G>A	ClinGen:CA394313332	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.828G>T (p.Met276Ile)	7249	TSC2	Uncertain significance	rs1318274503	RCV001049757;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107159	2107159	G	T	16:g.2107159G>T	-
NM_000548.5(TSC2):c.832dup (p.His278fs)	7249	TSC2	Pathogenic	rs137854020	RCV000042708\|RCV000698426;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107161	2107162	G	GC	16:g.2107161_2107162insC	Tuberous sclerosis database (TSC2):TSC2_00546,ClinGen:CA023009	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.830G>T (p.Cys277Phe)	7249	TSC2	Uncertain significance	-1	RCV002024704;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107161	2107161	G	T	2107161	-
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp)	7249	TSC2	Uncertain significance	rs1057523424	RCV000518815\|RCV000689830;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107162	2107162	C	G	NC_000016.9:g.2107162C>G	ClinGen:CA394313376	CN169374 not specified;
NM_000548.5(TSC2):c.832C>T (p.His278Tyr)	7249	TSC2	Uncertain significance	rs2085965079	RCV001297628;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107163	2107163	C	T	2107163	-
NM_000548.5(TSC2):c.833A>G (p.His278Arg)	7249	TSC2	Benign/Likely benign	rs397515266	RCV000231955\|RCV001534673;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2107164	2107164	A	G	NC_000016.9:g.2107164A>G	ClinGen:CA10583286	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.834C>T (p.His278=)	7249	TSC2	Likely benign	rs1596280873	RCV000936857\|RCV001418437;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107165	2107165	C	T	16:g.2107165C>T	-
NM_000548.5(TSC2):c.837C>T (p.Leu279=)	7249	TSC2	Benign/Likely benign	rs746694709	RCV000163951\|RCV000838400\|RCV001088089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107168	2107168	C	T	NC_000016.9:g.2107168C>T	ClinGen:CA023016	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.838A>G (p.Met280Val)	7249	TSC2	Uncertain significance	rs1596280903	RCV000800713;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107169	2107169	A	G	16:g.2107169A>G	-
NM_000548.5(TSC2):c.844G>T (p.Asp282Tyr)	7249	TSC2	Uncertain significance	-1	RCV002041512;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107175	2107175	G	T	2107175	-
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)	7249	TSC2	Uncertain significance	rs587778734	RCV000122220\|RCV000550508\|RCV001017849;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2107177	2107177	C	A	16:g.2107177C>A	ClinGen:CA023019	CN169374 not specified;
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)	7249	TSC2	Uncertain significance	rs1596280931	RCV000824063;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107178	2107178	A	G	16:g.2107178A>G	-
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)	7249	TSC2	Uncertain significance	-1	RCV002044155;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107179	2107179	G	A	2107179	-
NM_000548.5(TSC2):c.848+1G>A	7249	TSC2	Pathogenic	rs45466296	RCV000043189\|RCV000190083\|RCV000201109;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107180	2107180	G	A	NC_000016.9:g.2107180G>A	ClinGen:CA023022,Tuberous sclerosis database (TSC2):TSC2_00806
NM_000548.5(TSC2):c.848+5G>A	7249	TSC2	Conflicting interpretations of pathogenicity	rs1370989559	RCV000526766\|RCV001017884;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2107184	2107184	G	A	NC_000016.9:g.2107184G>A	ClinGen:CA658658340	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.848+8_848+9del	7249	TSC2	Likely benign	-1	RCV002219003;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107184	2107185	AGT	A	2107183	-
NM_000548.5(TSC2):c.848+7G>A	7249	TSC2	Benign	rs45442896	RCV000042659\|RCV000125706\|RCV000205344\|RCV000210774\|RCV001079837;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107186	2107186	G	A	16:g.2107186G>A	ClinGen:CA023033,Tuberous sclerosis database (TSC2):TSC2_00898	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.848+9G>A	7249	TSC2	Likely benign	-1	RCV001392508;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107188	2107188	G	A	2107188	-
NM_000548.5(TSC2):c.848+10G>A	7249	TSC2	Likely benign	-1	RCV001458448;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107189	2107189	G	A	2107189	-
NM_000548.5(TSC2):c.848+12G>A	7249	TSC2	Likely benign	-1	RCV002213706;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107191	2107191	G	A	2107191	-
NM_000548.5(TSC2):c.848+13G>T	7249	TSC2	Likely benign	rs1402619251	RCV000602568\|RCV002062907;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107192	2107192	G	T	16:g.2107192G>T	ClinGen:CA620373205	CN169374 not specified;
NM_000548.5(TSC2):c.848+13G>A	7249	TSC2	Likely benign	-1	RCV002146264;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107192	2107192	G	A	2107192	-
NM_000548.5(TSC2):c.848+19G>A	7249	TSC2	Likely benign	rs1044793633	RCV000606890\|RCV002066879;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107198	2107198	G	A	16:g.2107198G>A	ClinGen:CA276774990	CN169374 not specified;
NM_000548.5(TSC2):c.848+20C>T	7249	TSC2	Likely benign	rs1459744028	RCV000613604\|RCV002063113;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2107199	2107199	C	T	16:g.2107199C>T	ClinGen:CA620373207	CN169374 not specified;
NM_000548.5(TSC2):c.848+281C>T	7249	TSC2	Pathogenic	rs45517132	RCV000043190\|RCV000457139\|RCV001197516;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2107460	2107460	C	T	16:g.2107460C>T	ClinGen:CA023025,Tuberous sclerosis database (TSC2):TSC2_00140	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-19C>T	7249	TSC2	Likely benign	-1	RCV002100245;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108729	2108729	C	T	2108729	-
NM_000548.5(TSC2):c.849-17C>A	7249	TSC2	Likely benign	-1	RCV002185989;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108731	2108731	C	A	2108731	-
NM_000548.5(TSC2):c.849-16T>C	7249	TSC2	Likely benign	-1	RCV002194055;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108732	2108732	T	C	2108732	-
NM_000548.5(TSC2):c.849-13G>A	7249	TSC2	Conflicting interpretations of pathogenicity	rs886051787	RCV000356020\|RCV001545007\|RCV001797706;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108735	2108735	G	A	NC_000016.9:g.2108735G>A	ClinGen:CA10637322	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.849-12G>A	7249	TSC2	Likely benign	-1	RCV002149654;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108736	2108736	G	A	2108736	-
NC_000016.9:g.(?_2108738)_(2138621_?)dup	7249	TSC2	Uncertain significance	-1	RCV000815904;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108738	2138621	na	na		-
NM_000548.5(TSC2):c.849-9dup	7249	TSC2	Conflicting interpretations of pathogenicity	rs764626623	RCV000864781\|RCV001593077;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108738	2108739	A	AC	16:g.2108738_2108739insC	-
NM_000548.5(TSC2):c.849-10A>T	7249	TSC2	Likely benign	rs1596288175	RCV000920068;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108738	2108738	A	T	16:g.2108738A>T	-
NC_000016.10:g.(?_2058737)_(2088610_?)dup	7249	TSC2	Uncertain significance	-1	RCV001031056;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108738	2138611	na	na	-1	-
NC_000016.10:g.(?_2058737)_(2093096_?)del	7249	TSC2	Pathogenic	-1	RCV001032849;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108738	2143097	na	na	-1	-
NM_000548.5(TSC2):c.849-10A>G	7249	TSC2	Uncertain significance	rs1596288175	RCV001240367;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108738	2108738	A	G	16:g.2108738A>G	-
NM_000548.5(TSC2):c.849-9C>T	7249	TSC2	Likely benign	-1	RCV001471354;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108739	2108739	C	T	2108739	-
NM_000548.5(TSC2):c.849-8A>G	7249	TSC2	Conflicting interpretations of pathogenicity	rs765336852	RCV000372838\|RCV001079726\|RCV001117344;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805	16	2108740	2108740	A	G	16:g.2108740A>G	ClinGen:CA056570	CN169374 not specified;
NM_000548.5(TSC2):c.849-7del	7249	TSC2	Likely benign	rs1555499625	RCV000534685;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108741	2108741	AC	A	NC_000016.9:g.2108741del	ClinGen:CA658658341	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-6T>G	7249	TSC2	Conflicting interpretations of pathogenicity	rs886038358	RCV000245598\|RCV001049053;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108742	2108742	T	G	NC_000016.9:g.2108742T>G	ClinGen:CA10587222	CN169374 not specified;
NC_000016.9:g.(?_2108742)_(2138617_?)dup	7249	TSC2	Uncertain significance	-1	RCV000644424;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108742	2138617	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-4_849-3del	7249	TSC2	Uncertain significance	rs1295449344	RCV001058067;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108742	2108743	CTT	C	16:g.2108742_2108743del	-
NM_000548.5(TSC2):c.849-4T>C	7249	TSC2	Conflicting interpretations of pathogenicity	rs752614339	RCV000221547\|RCV000644217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108744	2108744	T	C	16:g.2108744T>C	ClinGen:CA056565	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.849-3T>C	7249	TSC2	Uncertain significance	rs45489591	RCV000644159;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108745	2108745	T	C	NC_000016.9:g.2108745T>C	ClinGen:CA658798478	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-1G>A	7249	TSC2	Pathogenic/Likely pathogenic	rs45506396	RCV000042648\|RCV000439973\|RCV001039254;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108747	2108747	G	A	NC_000016.9:g.2108747G>A	ClinGen:CA023038,Tuberous sclerosis database (TSC2):TSC2_00148
NM_000548.5(TSC2):c.849-1G>C	7249	TSC2	Likely pathogenic	rs45506396	RCV000055302\|RCV000660341;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108747	2108747	G	C	16:g.2108747G>C	ClinGen:CA023041,Tuberous sclerosis database (TSC2):TSC2_02084	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)	7249	TSC2	Uncertain significance	rs1596288325	RCV000807453;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108748	2108748	A	C	16:g.2108748A>C	-
NM_000548.5(TSC2):c.851C>G (p.Ala284Gly)	7249	TSC2	Uncertain significance	rs1195702502	RCV001305140;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108750	2108750	C	G	2108750	-
NM_000548.5(TSC2):c.851C>T (p.Ala284Val)	7249	TSC2	Uncertain significance	-1	RCV001991822;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108750	2108750	C	T	2108750	-
NM_000548.5(TSC2):c.852C>T (p.Ala284=)	7249	TSC2	Likely benign	rs1555499631	RCV000551420;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108751	2108751	C	T	NC_000016.9:g.2108751C>T	ClinGen:CA492959538	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs794726983	RCV000173708\|RCV000644400;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108754	2108754	C	T	16:g.2108754C>T	ClinGen:CA023053	CN169374 not specified;
NM_000548.5(TSC2):c.856A>G (p.Met286Val)	7249	TSC2	Benign/Likely benign	rs1800748	RCV000043277\|RCV000122201\|RCV000163382\|RCV000713944\|RCV001084045;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108755	2108755	A	G	16:g.2108755A>G	ClinGen:CA023055,UniProtKB:P49815#VAR_009421,Tuberous sclerosis database (TSC2):TSC2_00160	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517136	RCV000043278\|RCV000421501\|RCV000457171\|RCV001018037;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108756	2108756	T	C	16:g.2108756T>C	ClinGen:CA023058,UniProtKB:P49815#VAR_009420,Tuberous sclerosis database (TSC2):TSC2_00549	CN169374 not specified;
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)	7249	TSC2	Uncertain significance	rs397515300	RCV000687612;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108758	2108758	G	A	NC_000016.9:g.2108758G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)	7249	TSC2	Benign/Likely benign	rs192567788	RCV000231494\|RCV001018094\|RCV000608375;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	16	2108760	2108760	G	C	NC_000016.9:g.2108760G>C	ClinGen:CA056597	CN169374 not specified;
NM_000548.5(TSC2):c.862G>A (p.Asp288Asn)	7249	TSC2	Uncertain significance	rs1555499648	RCV000644097;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108761	2108761	G	A	NC_000016.9:g.2108761G>A	ClinGen:CA394315000	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.864C>T (p.Asp288=)	7249	TSC2	Benign/Likely benign	rs780887572	RCV000471683\|RCV001018131;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108763	2108763	C	T	NC_000016.9:g.2108763C>T	ClinGen:CA056607	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)	7249	TSC2	Likely benign	rs780887572	RCV000644160;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108763	2108763	C	G	NC_000016.9:g.2108763C>G	ClinGen:CA276775635	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.865G>A (p.Ala289Thr)	7249	TSC2	Uncertain significance	rs750060649	RCV001045028;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108764	2108764	G	A	16:g.2108764G>A	-
NM_000548.5(TSC2):c.866C>T (p.Ala289Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs755631210	RCV000527430\|RCV000568400;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108765	2108765	C	T	NC_000016.9:g.2108765C>T	ClinGen:CA056623	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.867G>A (p.Ala289=)	7249	TSC2	Benign/Likely benign	rs375163125	RCV000218987\|RCV000644363\|RCV001762472;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108766	2108766	G	A	16:g.2108766G>A	ClinGen:CA056629	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.867G>T (p.Ala289=)	7249	TSC2	Likely benign	rs375163125	RCV000540165;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108766	2108766	G	T	16:g.2108766G>T	ClinGen:CA056638	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.867G>C (p.Ala289=)	7249	TSC2	Likely benign	-1	RCV002092853;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108766	2108766	G	C	2108766	-
NM_000548.5(TSC2):c.869C>T (p.Pro290Leu)	7249	TSC2	Uncertain significance	-1	RCV001993634;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108768	2108768	C	T	2108768	-
NM_000548.5(TSC2):c.870C>T (p.Pro290=)	7249	TSC2	Likely benign	-1	RCV002105570;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108769	2108769	C	T	2108769	-
NM_000548.5(TSC2):c.871C>T (p.Leu291=)	7249	TSC2	Likely benign	rs45517137	RCV000042651\|RCV000928483\|RCV001439994;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108770	2108770	C	T	16:g.2108770C>T	ClinGen:CA023067,Tuberous sclerosis database (TSC2):TSC2_00048	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.871C>G (p.Leu291Val)	7249	TSC2	Uncertain significance	-1	RCV002046319;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108770	2108770	C	G	2108770	-
NM_000548.5(TSC2):c.874C>T (p.Leu292=)	7249	TSC2	Likely benign	rs1031153520	RCV000938039;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108773	2108773	C	T	16:g.2108773C>T	-
NM_000548.5(TSC2):c.878G>A (p.Arg293Lys)	7249	TSC2	Uncertain significance	-1	RCV002046535;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108777	2108777	G	A	2108777	-
NM_000548.5(TSC2):c.879A>G (p.Arg293=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs369222477	RCV000870337\|RCV001018344\|RCV001117345;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805	16	2108778	2108778	A	G	16:g.2108778A>G	-
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)	7249	TSC2	Uncertain significance	-1	RCV002045836;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108783	2108783	C	A	2108783	-
NM_000548.5(TSC2):c.885C>T (p.Ala295=)	7249	TSC2	Benign/Likely benign	rs778296481	RCV000610089\|RCV001018416\|RCV000958380;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108784	2108784	C	T	16:g.2108784C>T	ClinGen:CA056646	CN169374 not specified;
NM_000548.5(TSC2):c.886G>A (p.Val296Met)	7249	TSC2	Conflicting interpretations of pathogenicity	rs747237113	RCV000415290\|RCV000466469\|RCV001197195;	N	Human Phenotype Ontology:HP:0009717,MedGen:C1968959\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2108785	2108785	G	A	NC_000016.9:g.2108785G>A	ClinGen:CA16043501	C1968959 Cortical tubers;
NM_000548.5(TSC2):c.886G>T (p.Val296Leu)	7249	TSC2	Uncertain significance	rs747237113	RCV001053883;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108785	2108785	G	T	16:g.2108785G>T	-
NM_000548.5(TSC2):c.894dup (p.Val299fs)	7249	TSC2	Pathogenic	rs137854024	RCV000043202\|RCV001058679;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108787	2108788	G	GT	16:g.2108787_2108788insT	ClinGen:CA023085,Tuberous sclerosis database (TSC2):TSC2_00970	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)	7249	TSC2	Conflicting interpretations of pathogenicity	rs747310967	RCV000394048\|RCV000570041\|RCV001089419;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108792	2108792	T	C	16:g.2108792T>C	ClinGen:CA056651	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.897G>A (p.Val299=)	7249	TSC2	Uncertain significance	rs1382139812	RCV001215924;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108796	2108796	G	A	16:g.2108796G>A	-
NM_000548.5(TSC2):c.900C>T (p.Gly300=)	7249	TSC2	Uncertain significance	rs1415187475	RCV001224868;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108799	2108799	C	T	16:g.2108799C>T	-
NM_000548.5(TSC2):c.901A>G (p.Met301Val)	7249	TSC2	Benign	rs1356498946	RCV000919129\|RCV001522508;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108800	2108800	A	G	16:g.2108800A>G	-
NM_000548.5(TSC2):c.901A>C (p.Met301Leu)	7249	TSC2	Uncertain significance	rs1356498946	RCV001340665;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108800	2108800	A	C	2108800	-
NM_000548.5(TSC2):c.902T>C (p.Met301Thr)	7249	TSC2	Uncertain significance	rs1060500949	RCV000467705;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108801	2108801	T	C	NC_000016.9:g.2108801T>C	ClinGen:CA16615032	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.909_928del (p.Trp304fs)	7249	TSC2	Pathogenic	rs137854012	RCV000042664\|RCV001852884;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108802	2108821	TGGCTCTCTGGGGAGCCCACC	T	NC_000016.9:g.2108808_2108827del	ClinGen:CA023092,Tuberous sclerosis database (TSC2):TSC2_00376
NM_000548.5(TSC2):c.905C>G (p.Ala302Gly)	7249	TSC2	Uncertain significance	-1	RCV002044720;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108804	2108804	C	G	2108804	-
NM_000548.5(TSC2):c.906T>C (p.Ala302=)	7249	TSC2	Likely benign	-1	RCV002101532;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108805	2108805	T	C	2108805	-
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)	7249	TSC2	Uncertain significance	rs1060500943	RCV000468784;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108806	2108806	C	T	NC_000016.9:g.2108806C>T	ClinGen:CA16614692	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)	7249	TSC2	Uncertain significance	rs1060500943	RCV000460587;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108806	2108806	C	A	NC_000016.9:g.2108806C>A	ClinGen:CA16614909	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.907C>G (p.Leu303Val)	7249	TSC2	Uncertain significance	rs1060500943	RCV001300767;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108806	2108806	C	G	2108806	-
NM_000548.5(TSC2):c.909C>T (p.Leu303=)	7249	TSC2	Likely benign	-1	RCV001462455;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108808	2108808	C	T	2108808	-
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397515108	RCV000055358\|RCV002054888\|RCV000795349\|RCV001562466;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994; MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,O	16	2108809	2108809	T	C	NC_000016.9:g.2108809T>C	ClinGen:CA023104,Tuberous sclerosis database (TSC2):TSC2_01152	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.914del (p.Gly305fs)	7249	TSC2	Pathogenic	rs2086233936	RCV001066746;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108810	2108810	TG	T	16:g.2108810_2108810del	-
NM_000548.5(TSC2):c.913G>A (p.Gly305Arg)	7249	TSC2	Uncertain significance	rs1567415674	RCV000696255;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108812	2108812	G	A	NC_000016.9:g.2108812G>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.914G>T (p.Gly305Val)	7249	TSC2	Uncertain significance	-1	RCV001872832;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108813	2108813	G	T	2108813	-
NM_000548.5(TSC2):c.917C>T (p.Ala306Val)	7249	TSC2	Uncertain significance	rs2086235107	RCV001322652;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108816	2108816	C	T	2108816	-
NM_000548.5(TSC2):c.918C>T (p.Ala306=)	7249	TSC2	Likely benign	-1	RCV001414249;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108817	2108817	C	T	2108817	-
NM_000548.5(TSC2):c.918C>A (p.Ala306=)	7249	TSC2	Likely benign	-1	RCV002206159;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108817	2108817	C	A	2108817	-
NM_000548.5(TSC2):c.921C>G (p.His307Gln)	7249	TSC2	Uncertain significance	rs878854121	RCV000226468\|RCV001550647;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108820	2108820	C	G	NC_000016.9:g.2108820C>G	ClinGen:CA10583287	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.921C>T (p.His307=)	7249	TSC2	Likely benign	-1	RCV001488619;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108820	2108820	C	T	2108820	-
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)	7249	TSC2	Benign	rs201144475	RCV000034667\|RCV001084556;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108821	2108821	C	G	16:g.2108821C>G	ClinGen:CA023120	CN517202 not provided;
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)	7249	TSC2	Conflicting interpretations of pathogenicity	rs201144475	RCV000732320\|RCV000716745\|RCV001086904;	N	MedGen:CN517202\|MedGen:C2711754\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108821	2108821	C	T	NC_000016.9:g.2108821C>T	ClinGen:CA056666	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)	7249	TSC2	Uncertain significance	rs1213252028	RCV001019063\|RCV001342322;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108822	2108822	G	A	16:g.2108822G>A	-
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1258567486	RCV000528235\|RCV001019094\|RCV001355181;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2108824	2108824	C	T	NC_000016.9:g.2108824C>T	ClinGen:CA394315433	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)	7249	TSC2	Conflicting interpretations of pathogenicity	rs137853986	RCV000042653\|RCV000189878\|RCV000540959\|RCV001019098;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108825	2108826	TC	AG	NC_000016.9:g.2108825_2108826delinsAG	ClinGen:CA023128,Tuberous sclerosis database (TSC2):TSC2_00172	CN169374 not specified;
NM_000548.5(TSC2):c.926T>A (p.Leu309His)	7249	TSC2	Likely benign	rs75348431	RCV000935032;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108825	2108825	T	A	16:g.2108825T>A	-
NM_000548.5(TSC2):c.927C>G (p.Leu309=)	7249	TSC2	Likely benign	rs79786059	RCV000935033\|RCV002066143;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108826	2108826	C	G	16:g.2108826C>G	-
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)	7249	TSC2	Uncertain significance	rs878854122	RCV000229314\|RCV001770190;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2108828	2108828	A	G	NC_000016.9:g.2108828A>G	ClinGen:CA10583288	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)	7249	TSC2	Uncertain significance	rs878854122	RCV000699700;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108828	2108828	A	T	NC_000016.9:g.2108828A>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.935_936del (p.Leu312fs)	7249	TSC2	Pathogenic	rs1596288988	RCV000853247;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108830	2108831	TTC	T	16:g.2108830_2108831del	-
NM_000548.5(TSC2):c.931T>A (p.Ser311Thr)	7249	TSC2	Uncertain significance	rs775590764	RCV001307299;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108830	2108830	T	A	2108830	-
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)	7249	TSC2	Uncertain significance	rs1475672414	RCV000819530\|RCV001766732;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108831	2108831	C	G	16:g.2108831C>G	-
NM_000548.5(TSC2):c.932C>T (p.Ser311Phe)	7249	TSC2	Uncertain significance	rs1475672414	RCV001040944;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108831	2108831	C	T	16:g.2108831C>T	-
NM_000548.5(TSC2):c.933T>G (p.Ser311=)	7249	TSC2	Likely benign	rs1596289005	RCV000977206;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108832	2108832	T	G	16:g.2108832T>G	-
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)	7249	TSC2	Uncertain significance	rs755368431	RCV000459830\|RCV000568871;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108833	2108833	C	T	NC_000016.9:g.2108833C>T	ClinGen:CA16614696	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.936C>G (p.Leu312=)	7249	TSC2	Likely benign	-1	RCV001501418;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108835	2108835	C	G	2108835	-
NM_000548.5(TSC2):c.936C>T (p.Leu312=)	7249	TSC2	Likely benign	-1	RCV001480295;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108835	2108835	C	T	2108835	-
NM_000548.5(TSC2):c.937A>T (p.Arg313Trp)	7249	TSC2	Uncertain significance	rs2086239979	RCV001348626;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108836	2108836	A	T	2108836	-
NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)	7249	TSC2	Uncertain significance	rs878854123	RCV000233295;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108840	2108840	A	G	NC_000016.9:g.2108840A>G	ClinGen:CA10583289	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs202082319	RCV000166873\|RCV000553448\|RCV001762388;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108843	2108843	C	T	16:g.2108843C>T	ClinGen:CA023151	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.945G>A (p.Ser315=)	7249	TSC2	Benign/Likely benign	rs763948768	RCV000253881\|RCV001080071\|RCV000827270\|RCV000571633;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2108844	2108844	G	A	NC_000016.9:g.2108844G>A	ClinGen:CA056697	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.945G>T (p.Ser315=)	7249	TSC2	Likely benign	-1	RCV002170978;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108844	2108844	G	T	2108844	-
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)	7249	TSC2	Conflicting interpretations of pathogenicity	rs751490043	RCV000226007\|RCV001019379\|RCV001770191;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2108846	2108846	C	A	16:g.2108846C>A	ClinGen:CA056703	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)	7249	TSC2	Uncertain significance	rs751490043	RCV000806808\|RCV001772084;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2108846	2108846	C	T	16:g.2108846C>T	-
NM_000548.5(TSC2):c.948G>A (p.Pro316=)	7249	TSC2	Benign/Likely benign	rs45517141	RCV000042655\|RCV000125639\|RCV000163422\|RCV000756828\|RCV001083605;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108847	2108847	G	A	16:g.2108847G>A	ClinGen:CA023155,Tuberous sclerosis database (TSC2):TSC2_00933	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)	7249	TSC2	Uncertain significance	rs1596289105	RCV000817306;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108849	2108849	C	T	16:g.2108849C>T	-
NM_000548.5(TSC2):c.951A>G (p.Thr317=)	7249	TSC2	Benign/Likely benign	rs767275578	RCV000575710\|RCV000980767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108850	2108850	A	G	NC_000016.9:g.2108850A>G	ClinGen:CA056717	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)	7249	TSC2	Benign/Likely benign	rs1060500970	RCV000524092\|RCV001080775;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108852	2108852	C	T	NC_000016.9:g.2108852C>T	ClinGen:CA16614697
NM_000548.5(TSC2):c.955G>A (p.Val319Met)	7249	TSC2	Likely benign	rs1432086775	RCV000541726;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108854	2108854	G	A	16:g.2108854G>A	ClinGen:CA394315689	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.957G>T (p.Val319=)	7249	TSC2	Likely benign	-1	RCV002197339;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108856	2108856	G	T	2108856	-
NM_000548.5(TSC2):c.960G>A (p.Leu320=)	7249	TSC2	Likely benign	-1	RCV001472949;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108859	2108859	G	A	2108859	-
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)	7249	TSC2	Uncertain significance	-1	RCV001913419;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108861	2108861	C	T	2108861	-
NM_000548.5(TSC2):c.965C>T (p.Ser322Leu)	7249	TSC2	Uncertain significance	rs1345813917	RCV001056626;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108864	2108864	C	T	16:g.2108864C>T	-
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)	7249	TSC2	Pathogenic	rs1345813917	RCV001194692;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108864	2108864	C	A	16:g.2108864C>A	-
NM_000548.5(TSC2):c.966A>C (p.Ser322=)	7249	TSC2	Likely benign	-1	RCV001501185;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108865	2108865	A	C	2108865	-
NM_000548.5(TSC2):c.969T>G (p.Phe323Leu)	7249	TSC2	Uncertain significance	-1	RCV001942723;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108868	2108868	T	G	2108868	-
NM_000548.5(TSC2):c.970T>G (p.Tyr324Asp)	7249	TSC2	Uncertain significance	rs2086247823	RCV001223173;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108869	2108869	T	G	16:g.2108869T>G	-
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)	7249	TSC2	Pathogenic	rs45517143	RCV000043213\|RCV000462556;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108871	2108871	C	A	16:g.2108871C>A	ClinGen:CA023189,Tuberous sclerosis database (TSC2):TSC2_00380	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.972C>T (p.Tyr324=)	7249	TSC2	Likely benign	-1	RCV002133872;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108871	2108871	C	T	2108871	-
NM_000548.5(TSC2):c.974A>C (p.Gln325Pro)	7249	TSC2	Uncertain significance	rs2086248990	RCV001068976;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108873	2108873	A	C	16:g.2108873A>C	-
NM_000548.5(TSC2):c.975G>C (p.Gln325His)	7249	TSC2	Uncertain significance	rs1567416259	RCV000686042;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108874	2108874	G	C	NC_000016.9:g.2108874G>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.975+1G>T	7249	TSC2	Pathogenic	rs137854200	RCV000055163\|RCV000989416;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108875	2108875	G	T	16:g.2108875G>T	ClinGen:CA023206,Tuberous sclerosis database (TSC2):TSC2_02101	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.975+2T>C	7249	TSC2	Pathogenic	-1	RCV001387617;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108876	2108876	T	C	2108876	-
NM_000548.5(TSC2):c.975+3A>C	7249	TSC2	Uncertain significance	rs1131692179	RCV000495286;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108877	2108877	A	C	NC_000016.9:g.2108877A>C	ClinGen:CA645373024	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.975+5G>C	7249	TSC2	Uncertain significance	rs45458600	RCV000055353\|RCV001318607;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108879	2108879	G	C	16:g.2108879G>C	ClinGen:CA023209,Tuberous sclerosis database (TSC2):TSC2_02337	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.975+7C>T	7249	TSC2	Conflicting interpretations of pathogenicity	rs372463702	RCV000429010\|RCV000456230;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108881	2108881	C	T	16:g.2108881C>T	ClinGen:CA056774	CN169374 not specified;
NM_000548.5(TSC2):c.975+7C>A	7249	TSC2	Likely benign	rs372463702	RCV000932642\|RCV001477811;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108881	2108881	C	A	16:g.2108881C>A	-
NM_000548.5(TSC2):c.975+8G>A	7249	TSC2	Benign/Likely benign	rs137853984	RCV000043156\|RCV000428883\|RCV000465759\|RCV001084437;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108882	2108882	G	A	16:g.2108882G>A	ClinGen:CA023213,Tuberous sclerosis database (TSC2):TSC2_01129	CN169374 not specified;
NM_000548.5(TSC2):c.975+8G>T	7249	TSC2	Likely benign	-1	RCV001434810;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108882	2108882	G	T	2108882	-
NM_000548.5(TSC2):c.975+13C>T	7249	TSC2	Benign/Likely benign	rs200564575	RCV000055149\|RCV000250873\|RCV001529198\|RCV001797619;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108887	2108887	C	T	16:g.2108887C>T	ClinGen:CA023198,Tuberous sclerosis database (TSC2):TSC2_02144	CN169374 not specified;
NM_000548.5(TSC2):c.975+13C>G	7249	TSC2	Likely benign	-1	RCV002086261;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108887	2108887	C	G	2108887	-
NM_000548.5(TSC2):c.975+15G>T	7249	TSC2	Likely benign	-1	RCV002184624;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108889	2108889	G	T	2108889	-
NM_000548.5(TSC2):c.975+15G>A	7249	TSC2	Benign	-1	RCV002196258;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108889	2108889	G	A	2108889	-
NM_000548.5(TSC2):c.975+16T>C	7249	TSC2	Likely benign	rs769084318	RCV000604249\|RCV002065234;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108890	2108890	T	C	16:g.2108890T>C	ClinGen:CA276775749	CN169374 not specified;
NM_000548.5(TSC2):c.975+19G>T	7249	TSC2	Likely benign	-1	RCV002102810;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2108893	2108893	G	T	2108893	-
NM_000548.5(TSC2):c.976-207_1191del	7249	TSC2	Likely pathogenic	-1	RCV000817383;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110463	2111942	GGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGC	G	16:g.2110463_2110561del	-
NM_000548.5(TSC2):c.976-100C>G	7249	TSC2	Benign	rs2074968	RCV000834380\|RCV001544261;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110571	2110571	C	G	16:g.2110571C>G	-
NM_000548.5(TSC2):c.976-22_976-6del	7249	TSC2	Likely benign	-1	RCV001459248;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110645	2110661	TGTGTGCTGGCCGGGCTC	T	2110644	-
NC_000016.9:g.(?_2110651)_(2115656_?)dup	7249	TSC2	Pathogenic	-1	RCV000708199;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110651	2115656	na	na		-	C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2110651)_(2135343_?)dup	7249	TSC2	Pathogenic	-1	RCV001958779;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110651	2135343	na	na	-1	-
NM_000548.5(TSC2):c.976-17C>A	7249	TSC2	Likely benign	-1	RCV002183016;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110654	2110654	C	A	2110654	-
NM_000548.5(TSC2):c.976-16C>T	7249	TSC2	Likely benign	-1	RCV002098426;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110655	2110655	C	T	2110655	-
NM_000548.5(TSC2):c.976-15G>A	7249	TSC2	Pathogenic	rs45517150	RCV000042656\|RCV000189971\|RCV000465503;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110656	2110656	G	A	NC_000016.9:g.2110656G>A	ClinGen:CA023219,Tuberous sclerosis database (TSC2):TSC2_00184
NC_000016.9:g.(?_2110656)_(2115646_?)del	7249	TSC2	Pathogenic	-1	RCV002037687;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110656	2115646	na	na	-1	-
NM_000548.5(TSC2):c.976-14G>C	7249	TSC2	Likely benign	-1	RCV002096082;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110657	2110657	G	C	2110657	-
NM_000548.5(TSC2):c.976-12C>T	7249	TSC2	Uncertain significance	-1	RCV001903472;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110659	2110659	C	T	2110659	-
NM_000548.5(TSC2):c.976-10C>T	7249	TSC2	Benign/Likely benign	rs765990217	RCV000554329\|RCV001566191;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2110661	2110661	C	T	NC_000016.9:g.2110661C>T	ClinGen:CA056787	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.976-10C>G	7249	TSC2	Uncertain significance	-1	RCV002014261;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110661	2110661	C	G	2110661	-
NM_000548.5(TSC2):c.976-9G>A	7249	TSC2	Likely benign	rs367613848	RCV000530490;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110662	2110662	G	A	NC_000016.9:g.2110662G>A	ClinGen:CA276776556	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.976-8T>C	7249	TSC2	Likely benign	-1	RCV001458557;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110663	2110663	T	C	2110663	-
NM_000548.5(TSC2):c.976-6T>A	7249	TSC2	Uncertain significance	rs2086516048	RCV001057021;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110665	2110665	T	A	16:g.2110665T>A	-
NC_000016.9:g.(?_2110665)_(2113060_?)del	7249	TSC2	Likely pathogenic	-1	RCV001378862;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110665	2113060	na	na	-1	-
NM_000548.5(TSC2):c.976-5T>A	7249	TSC2	Uncertain significance	rs2086516322	RCV001050768;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110666	2110666	T	A	16:g.2110666T>A	-
NM_000548.5(TSC2):c.976-5T>C	7249	TSC2	Uncertain significance	-1	RCV001887536;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110666	2110666	T	C	2110666	-
NM_000548.5(TSC2):c.976-3del	7249	TSC2	Uncertain significance	-1	RCV001953099;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110667	2110667	TC	T	2110666	-
NM_000548.5(TSC2):c.976-3C>T	7249	TSC2	Benign/Likely benign	rs45517151	RCV000423847\|RCV000461016\|RCV000560939;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110668	2110668	C	T	16:g.2110668C>T	ClinGen:CA056833	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.976-1G>A	7249	TSC2	Pathogenic	rs45451199	RCV000042657\|RCV000644206;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110670	2110670	G	A	16:g.2110670G>A	ClinGen:CA023222,Tuberous sclerosis database (TSC2):TSC2_00123	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)	7249	TSC2	Pathogenic	rs397515176	RCV000055463\|RCV001250504;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110673	2110674	C	CAT	16:g.2110673_2110674insAT	ClinGen:CA023242,Tuberous sclerosis database (TSC2):TSC2_02414	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.978C>G (p.Ala326=)	7249	TSC2	Likely benign	rs1294670888	RCV000936413;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110673	2110673	C	G	16:g.2110673C>G	-
NM_000548.5(TSC2):c.979dup (p.Met327fs)	7249	TSC2	Pathogenic	-1	RCV001939583;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110673	2110674	C	CA	2110673	-
NM_000548.5(TSC2):c.979A>G (p.Met327Val)	7249	TSC2	Uncertain significance	rs754596133	RCV001304690;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110674	2110674	A	G	2110674	-
NM_000548.5(TSC2):c.985T>C (p.Cys329Arg)	7249	TSC2	Uncertain significance	rs2086518199	RCV001067062;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110680	2110680	T	C	16:g.2110680T>C	-
NM_000548.5(TSC2):c.985T>A (p.Cys329Ser)	7249	TSC2	Uncertain significance	-1	RCV001955854;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110680	2110680	T	A	2110680	-
NM_000548.5(TSC2):c.986G>A (p.Cys329Tyr)	7249	TSC2	Uncertain significance	rs2086518389	RCV001309444;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110681	2110681	G	A	2110681	-
NM_000548.5(TSC2):c.987T>A (p.Cys329Ter)	7249	TSC2	Pathogenic	-1	RCV001824268;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110682	2110682	T	A	2110682	-
NM_000548.5(TSC2):c.988C>T (p.Pro330Ser)	7249	TSC2	Uncertain significance	-1	RCV001962776;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110683	2110683	C	T	2110683	-
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)	7249	TSC2	Benign/Likely benign	rs140910086	RCV000468416\|RCV000566116\|RCV001557290;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2110684	2110684	C	T	NC_000016.9:g.2110684C>T	ClinGen:CA056877	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.989_990delinsGA (p.Pro330Arg)	7249	TSC2	Uncertain significance	rs2086518574	RCV001042508;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110684	2110685	CG	GA	NC_000016.9:g.2110684_2110685delinsGA	-
NM_000548.5(TSC2):c.990G>A (p.Pro330=)	7249	TSC2	Benign/Likely benign	rs752141469	RCV000839183\|RCV001019883\|RCV001088773;	N	MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110685	2110685	G	A	NC_000016.9:g.2110685G>A	ClinGen:CA056881	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.990_991delinsAT (p.Asn331Tyr)	7249	TSC2	Uncertain significance	rs2086518981	RCV001228437;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110685	2110686	GA	AT	NC_000016.9:g.2110685_2110686delinsAT	-
NM_000548.5(TSC2):c.991A>G (p.Asn331Asp)	7249	TSC2	Uncertain significance	rs1060500974	RCV000474153;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110686	2110686	A	G	NC_000016.9:g.2110686A>G	ClinGen:CA16614698	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.993C>T (p.Asn331=)	7249	TSC2	Benign/Likely benign	rs45517153	RCV000043236\|RCV000950328\|RCV001019915;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110688	2110688	C	T	16:g.2110688C>T	ClinGen:CA023251,Tuberous sclerosis database (TSC2):TSC2_00187	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.993del (p.Asn331fs)	7249	TSC2	Pathogenic	rs1596298137	RCV000793048;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110688	2110688	AC	A	16:g.2110688_2110688del	-
NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)	7249	TSC2	Benign	rs911600402	RCV000559621;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110689	2110689	G	A	NC_000016.9:g.2110689G>A	ClinGen:CA276776600	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.996G>A (p.Glu332=)	7249	TSC2	Likely benign	rs757788971	RCV000644359;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110691	2110691	G	A	NC_000016.9:g.2110691G>A	ClinGen:CA056886	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.996G>C (p.Glu332Asp)	7249	TSC2	Uncertain significance	rs757788971	RCV001019949\|RCV001369524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110691	2110691	G	C	16:g.2110691G>C	-
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)	7249	TSC2	Uncertain significance	rs1336741146	RCV000531279;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110692	2110692	G	T	NC_000016.9:g.2110692G>T	ClinGen:CA394317320	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.997G>A (p.Val333Met)	7249	TSC2	Uncertain significance	rs1336741146	RCV001317396;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110692	2110692	G	A	2110692	-
NM_000548.5(TSC2):c.999G>A (p.Val333=)	7249	TSC2	Likely benign	-1	RCV001402541;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110694	2110694	G	A	2110694	-
NM_000548.5(TSC2):c.999G>T (p.Val333=)	7249	TSC2	Likely benign	-1	RCV001408471;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110694	2110694	G	T	2110694	-
NM_000548.5(TSC2):c.1000G>A (p.Val334Met)	7249	TSC2	Uncertain significance	rs2086521360	RCV001298361;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110695	2110695	G	A	2110695	-
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)	7249	TSC2	Likely pathogenic	rs45484892	RCV000055437\|RCV001730486;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110696	2110696	T	C	16:g.2110696T>C	ClinGen:CA013517,Tuberous sclerosis database (TSC2):TSC2_02014	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)	7249	TSC2	Uncertain significance	rs45517144	RCV000042915\|RCV000202762;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110699	2110699	C	G	16:g.2110699C>G	ClinGen:CA013535,Tuberous sclerosis database (TSC2):TSC2_00738	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)	7249	TSC2	Uncertain significance	rs45517144	RCV000694942\|RCV001009666;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110699	2110699	C	T	NC_000016.9:g.2110699C>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)	7249	TSC2	Likely benign	rs397514924	RCV000925362;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110700	2110700	C	T	16:g.2110700C>T	-
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His)	7249	TSC2	Uncertain significance	rs2086522579	RCV001203548;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110701	2110701	T	C	16:g.2110701T>C	-
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)	7249	TSC2	Likely benign	rs780378198	RCV000644115;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110702	2110702	A	G	16:g.2110702A>G	ClinGen:CA027968	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1007A>T (p.Tyr336Phe)	7249	TSC2	Uncertain significance	rs780378198	RCV000802339;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110702	2110702	A	T	16:g.2110702A>T	-
NM_000548.5(TSC2):c.1010A>T (p.Glu337Val)	7249	TSC2	Uncertain significance	rs1596298246	RCV000792383;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110705	2110705	A	T	16:g.2110705A>T	-
NM_000548.5(TSC2):c.1014C>G (p.Ile338Met)	7249	TSC2	Uncertain significance	rs1250621196	RCV001017000\|RCV001351709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110709	2110709	C	G	16:g.2110709C>G	-
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)	7249	TSC2	Likely benign	-1	RCV001436285;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110709	2110709	C	T	2110709	-
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)	7249	TSC2	Conflicting interpretations of pathogenicity	rs559727962	RCV000644222\|RCV001017006;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110710	2110710	G	A	NC_000016.9:g.2110710G>A	ClinGen:CA276776626	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1015G>C (p.Val339Leu)	7249	TSC2	Uncertain significance	rs559727962	RCV000700341;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110710	2110710	G	C	NC_000016.9:g.2110710G>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1018C>T (p.Leu340=)	7249	TSC2	Likely benign	-1	RCV001456067;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110713	2110713	C	T	2110713	-
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)	7249	TSC2	Uncertain significance	rs397515192	RCV000055485\|RCV001221077;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110714	2110714	T	C	16:g.2110714T>C	ClinGen:CA013603,Tuberous sclerosis database (TSC2):TSC2_02015	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1022C>T (p.Ser341Phe)	7249	TSC2	Uncertain significance	rs2086524884	RCV001051063;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110717	2110717	C	T	16:g.2110717C>T	-
NM_000548.5(TSC2):c.1025_1027del (p.Ile342del)	7249	TSC2	Uncertain significance	rs2086525255	RCV001303277;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110718	2110720	CCAT	C	2110717	-
NM_000548.5(TSC2):c.1023C>T (p.Ser341=)	7249	TSC2	Likely benign	-1	RCV001437030;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110718	2110718	C	T	2110718	-
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val)	7249	TSC2	Uncertain significance	rs1060500913	RCV000458703;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110719	2110719	A	G	NC_000016.9:g.2110719A>G	ClinGen:CA16614648	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1029C>A (p.Thr343=)	7249	TSC2	Benign/Likely benign	rs45468201	RCV000457035\|RCV001017062\|RCV001718884;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2110724	2110724	C	A	16:g.2110724C>A	ClinGen:CA028015	CN169374 not specified;
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397515146	RCV000055413\|RCV000539242\|RCV001355778\|RCV000765261;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202\|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994; MONDO:MONDO:0011705,MedGen:C07516	16	2110728	2110728	C	T	16:g.2110728C>T	ClinGen:CA013622,Tuberous sclerosis database (TSC2):TSC2_02338	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1035C>A (p.Leu345=)	7249	TSC2	Likely benign	rs1476429068	RCV000539905;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110730	2110730	C	A	NC_000016.9:g.2110730C>A	ClinGen:CA492960816	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1035C>T (p.Leu345=)	7249	TSC2	Likely benign	rs1476429068	RCV000942715\|RCV001473794;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110730	2110730	C	T	16:g.2110730C>T	-
NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)	7249	TSC2	Uncertain significance	rs768760795	RCV000462431;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110731	2110731	A	G	NC_000016.9:g.2110731A>G	ClinGen:CA16615037	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1036A>T (p.Ile346Phe)	7249	TSC2	Uncertain significance	rs768760795	RCV000802563;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110731	2110731	A	T	16:g.2110731A>T	-
NM_000548.5(TSC2):c.1038C>G (p.Ile346Met)	7249	TSC2	Uncertain significance	rs2086528091	RCV001223551;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110733	2110733	C	G	16:g.2110733C>G	-
NM_000548.5(TSC2):c.1038C>T (p.Ile346=)	7249	TSC2	Likely benign	-1	RCV002145941;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110733	2110733	C	T	2110733	-
NM_000548.5(TSC2):c.1039A>G (p.Lys347Glu)	7249	TSC2	Uncertain significance	rs1337295642	RCV001017111\|RCV001860852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110734	2110734	A	G	16:g.2110734A>G	-
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs367963898	RCV000055159\|RCV000205714\|RCV001009773\|RCV001079443;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110735	2110735	A	G	16:g.2110735A>G	ClinGen:CA013642,Tuberous sclerosis database (TSC2):TSC2_02339	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1044G>A (p.Lys348=)	7249	TSC2	Likely benign	-1	RCV001490210;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110739	2110739	G	A	2110739	-
NM_000548.5(TSC2):c.1045T>C (p.Tyr349His)	7249	TSC2	Uncertain significance	rs2086529367	RCV001350728;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110740	2110740	T	C	2110740	-
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)	7249	TSC2	Likely benign	rs1060500916	RCV000460360;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110741	2110741	A	G	NC_000016.9:g.2110741A>G	ClinGen:CA16614703	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)	7249	TSC2	Pathogenic	rs1555500535	RCV000644182;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110741	2110742	A	AT	16:g.2110741_2110742insT	ClinGen:CA658798483	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1046A>T (p.Tyr349Phe)	7249	TSC2	Uncertain significance	rs1060500916	RCV001044494;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110741	2110741	A	T	16:g.2110741A>T	-
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)	7249	TSC2	Likely benign	rs1042628888	RCV000553855;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110742	2110742	T	C	NC_000016.9:g.2110742T>C	ClinGen:CA276776646	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1048A>T (p.Arg350Trp)	7249	TSC2	Uncertain significance	-1	RCV002023029;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110743	2110743	A	T	2110743	-
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)	7249	TSC2	Uncertain significance	rs1567423240	RCV001751427\|RCV001222189;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110744	2110744	G	A	16:g.2110744G>A	-
NM_000548.5(TSC2):c.1050G>A (p.Arg350=)	7249	TSC2	Likely benign	-1	RCV001447210;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110745	2110745	G	A	2110745	-
NM_000548.5(TSC2):c.1051A>G (p.Lys351Glu)	7249	TSC2	Uncertain significance	rs2086530884	RCV001318933;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110746	2110746	A	G	2110746	-
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs748109163	RCV000564908\|RCV000802991;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110747	2110747	A	G	NC_000016.9:g.2110747A>G	ClinGen:CA028047	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1053G>A (p.Lys351=)	7249	TSC2	Likely benign	-1	RCV002094531;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110748	2110748	G	A	2110748	-
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)	7249	TSC2	Uncertain significance	rs1596298442	RCV000823559\|RCV001118949;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805	16	2110749	2110749	G	A	16:g.2110749G>A	-
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)	7249	TSC2	Uncertain significance	rs902767624	RCV000807265;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110752	2110752	C	G	16:g.2110752C>G	-
NM_000548.5(TSC2):c.1057C>T (p.Leu353Phe)	7249	TSC2	Uncertain significance	rs902767624	RCV001035915;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110752	2110752	C	T	16:g.2110752C>T	-
NM_000548.5(TSC2):c.1058T>C (p.Leu353Pro)	7249	TSC2	Uncertain significance	-1	RCV001914315;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110753	2110753	T	C	2110753	-
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)	7249	TSC2	Benign/Likely benign	rs796053472	RCV000189879\|RCV000935555;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110754	2110754	C	T	NC_000016.9:g.2110754C>T	ClinGen:CA319339	CN169374 not specified;
NM_000548.5(TSC2):c.1059C>A (p.Leu353=)	7249	TSC2	Likely benign	-1	RCV001466504;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110754	2110754	C	A	2110754	-
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)	7249	TSC2	Pathogenic	rs45469896	RCV000042918\|RCV000713913\|RCV001382877;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110755	2110755	C	T	16:g.2110755C>T	ClinGen:CA013658,Tuberous sclerosis database (TSC2):TSC2_00768	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)	7249	TSC2	Likely benign	rs771943476	RCV000936732\|RCV001474671;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110757	2110757	G	A	16:g.2110757G>A	-
NM_000548.5(TSC2):c.1062G>C (p.Gln354His)	7249	TSC2	Uncertain significance	rs771943476	RCV001223970;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110757	2110757	G	C	16:g.2110757G>C	-
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)	7249	TSC2	Benign/Likely benign	rs587778728	RCV000122203\|RCV000471776\|RCV000561439\|RCV001537839;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2110761	2110761	G	C	16:g.2110761G>C	ClinGen:CA013667	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1068G>A (p.Val356=)	7249	TSC2	Likely benign	-1	RCV002186908;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110763	2110763	G	A	2110763	-
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs150195368	RCV000034641\|RCV000055595\|RCV000122202\|RCV000163628\|RCV000230505\|RCV000714826\|RCV001770048;	N	MedGen:CN517202\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011	16	2110765	2110765	C	T	16:g.2110765C>T	ClinGen:CA013675,Tuberous sclerosis database (TSC2):TSC2_02016	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu)	7249	TSC2	Uncertain significance	rs150195368	RCV001349248;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110765	2110765	C	A	2110765	-
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)	7249	TSC2	Benign/Likely benign	rs776395163	RCV000234437\|RCV000603071;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2110766	2110766	G	A	16:g.2110766G>A	ClinGen:CA028111	CN169374 not specified;
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)	7249	TSC2	Pathogenic	-1	RCV001387519;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110769	2110769	G	A	2110769	-
NM_000548.5(TSC2):c.1075G>A (p.Asp359Asn)	7249	TSC2	Uncertain significance	rs2086534058	RCV001349938;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110770	2110770	G	A	2110770	-
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)	7249	TSC2	Benign/Likely benign	rs1555500558	RCV000613470\|RCV001460382;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110772	2110772	C	T	16:g.2110772C>T	ClinGen:CA492961043	CN169374 not specified;
NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)	7249	TSC2	Uncertain significance	rs1555500560	RCV000532295;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110773	2110773	A	G	16:g.2110773A>G	ClinGen:CA394318052	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1080T>G (p.Ile360Met)	7249	TSC2	Uncertain significance	rs2086534827	RCV001244927;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110775	2110775	T	G	16:g.2110775T>G	-
NM_000548.5(TSC2):c.1080T>C (p.Ile360=)	7249	TSC2	Likely benign	-1	RCV001487305;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110775	2110775	T	C	2110775	-
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs796053483	RCV000189974\|RCV000754678\|RCV000812345;	N	MedGen:CN517202\|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110776	2110776	C	G	NC_000016.9:g.2110776C>G	ClinGen:CA319427	CN517202 not provided;
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)	7249	TSC2	Benign/Likely benign	rs1057524138	RCV000426721\|RCV000644375;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110778	2110778	G	A	16:g.2110778G>A	ClinGen:CA16607139	CN169374 not specified;
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)	7249	TSC2	Likely pathogenic	rs137854345	RCV000042395\|RCV000413741\|RCV001065226;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110780	2110780	T	C	16:g.2110780T>C	ClinGen:CA013704,Tuberous sclerosis database (TSC2):TSC2_01077	CN517202 not provided;
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)	7249	TSC2	Likely benign	-1	RCV001426759;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110781	2110781	G	A	2110781	-
NM_000548.5(TSC2):c.1086G>C (p.Leu362=)	7249	TSC2	Likely benign	-1	RCV002099384;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110781	2110781	G	C	2110781	-
NM_000548.5(TSC2):c.1088A>G (p.Asn363Ser)	7249	TSC2	Uncertain significance	rs1567423658	RCV000697533;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110783	2110783	A	G	16:g.2110783A>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1088A>T (p.Asn363Ile)	7249	TSC2	Uncertain significance	rs1567423658	RCV000701871;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110783	2110783	A	T	16:g.2110783A>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1090A>G (p.Ile364Val)	7249	TSC2	Uncertain significance	rs2086536512	RCV001212777;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110785	2110785	A	G	16:g.2110785A>G	-
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)	7249	TSC2	Likely benign	-1	RCV001502847;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110787	2110787	C	T	2110787	-
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs370403197	RCV000493232\|RCV001064683;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110788	2110788	A	G	NC_000016.9:g.2110788A>G	ClinGen:CA028137
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs757135168	RCV000163999\|RCV000227075\|RCV001118950\|RCV001548088;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2110790	2110790	C	T	16:g.2110790C>T	ClinGen:CA013749	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)	7249	TSC2	Uncertain significance	rs757135168	RCV001224443;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110790	2110790	C	G	16:g.2110790C>G	-
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)	7249	TSC2	Pathogenic	rs45517148	RCV000042986\|RCV000055263\|RCV000497801\|RCV001194675;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110791	2110791	G	T	NC_000016.9:g.2110791G>T	ClinGen:CA013758,Tuberous sclerosis database (TSC2):TSC2_00383,OMIM:191092.0010
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517148	RCV000230966\|RCV000568549\|RCV001118951\|RCV001721235;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202	16	2110791	2110791	G	A	NC_000016.9:g.2110791G>A	ClinGen:CA028150	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)	7249	TSC2	Uncertain significance	rs45517148	RCV000644146;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110791	2110791	G	C	16:g.2110791G>C	ClinGen:CA276776700	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)	7249	TSC2	Uncertain significance	rs757844109	RCV000993364\|RCV001319370;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110794	2110794	C	T	16:g.2110794C>T	-
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)	7249	TSC2	Benign	rs1800725	RCV000034642\|RCV000054867\|RCV000118696\|RCV000129200\|RCV000203922;	N	MedGen:CN517202\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110795	2110795	G	A	16:g.2110795G>A	ClinGen:CA013779,UniProtKB:P49815#VAR_009428,Tuberous sclerosis database (TSC2):TSC2_00163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)	7249	TSC2	Uncertain significance	rs1800725	RCV000055059\|RCV000805573;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110795	2110795	G	C	NC_000016.9:g.2110795G>C	ClinGen:CA013788,Tuberous sclerosis database (TSC2):TSC2_02147	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1100G>T (p.Arg367Leu)	7249	TSC2	Uncertain significance	rs1800725	RCV001325034;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110795	2110795	G	T	2110795	-
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)	7249	TSC2	Benign/Likely benign	rs45517149	RCV000835205\|RCV001079352;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110796	2110796	G	C	NC_000016.9:g.2110796G>C	ClinGen:CA492961117	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)	7249	TSC2	Uncertain significance	rs1567423904	RCV000687056;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110797	2110797	C	T	NC_000016.9:g.2110797C>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1104C>T (p.Leu368=)	7249	TSC2	Likely benign	-1	RCV002199756;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110799	2110799	C	T	2110799	-
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)	7249	TSC2	Uncertain significance	rs1195544121	RCV001295897;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110800	2110800	C	A	2110800	-
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)	7249	TSC2	Pathogenic	rs1596298721	RCV000801770;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110803	2110803	C	T	16:g.2110803C>T	-
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)	7249	TSC2	Benign	rs1800742	RCV000042396\|RCV000118697\|RCV000163259\|RCV000204769\|RCV000586320;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2110805	2110805	G	A	16:g.2110805G>A	ClinGen:CA013804,Tuberous sclerosis database (TSC2):TSC2_00164	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)	7249	TSC2	Pathogenic	rs45469099	RCV000042397\|RCV000644081\|RCV000760655;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2110806	2110806	C	T	NC_000016.9:g.2110806C>T	ClinGen:CA013813,Tuberous sclerosis database (TSC2):TSC2_00308
NM_000548.5(TSC2):c.1113G>C (p.Gln371His)	7249	TSC2	Uncertain significance	rs571767462	RCV001234320;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110808	2110808	G	C	16:g.2110808G>C	-
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)	7249	TSC2	Conflicting interpretations of pathogenicity	rs1060500919	RCV000457917\|RCV001017372;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110810	2110810	T	C	NC_000016.9:g.2110810T>C	ClinGen:CA16614653	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1116C>T (p.Leu372=)	7249	TSC2	Benign	rs587780973	RCV000125642\|RCV000906969;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110811	2110811	C	T	NC_000016.9:g.2110811C>T	ClinGen:CA013818	CN169374 not specified;
NM_000548.5(TSC2):c.1117C>A (p.Gln373Lys)	7249	TSC2	Uncertain significance	-1	RCV001370575;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110812	2110812	C	A	2110812	-
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)	7249	TSC2	Uncertain significance	rs397515131	RCV000691479;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110813	2110813	A	G	16:g.2110813A>G	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+1G>C	7249	TSC2	Pathogenic	rs45475793	RCV000512714;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110815	2110815	G	C	NC_000016.9:g.2110815G>C	ClinGen:CA394318489	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+3G>C	7249	TSC2	Uncertain significance	rs79668097	RCV000797499\|RCV001017389;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2110817	2110817	G	C	16:g.2110817G>C	-
NM_000548.5(TSC2):c.1119+3G>A	7249	TSC2	Uncertain significance	rs79668097	RCV001235325;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110817	2110817	G	A	16:g.2110817G>A	-
NM_000548.5(TSC2):c.1119+6_1119+28del	7249	TSC2	Conflicting interpretations of pathogenicity	rs1358834036	RCV000553261\|RCV000842441;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2110819	2110841	GGGTGGGGGCAGGAGCTCCGGGGA	G	NC_000016.9:g.2110820_2110842del	ClinGen:CA658658349
NM_000548.5(TSC2):c.1119+5G>T	7249	TSC2	Uncertain significance	rs2086542949	RCV001233472;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110819	2110819	G	T	16:g.2110819G>T	-
NM_000548.5(TSC2):c.1119+5G>C	7249	TSC2	Uncertain significance	-1	RCV001363053;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110819	2110819	G	C	2110819	-
NM_000548.5(TSC2):c.1119+6G>C	7249	TSC2	Benign/Likely benign	rs397515305	RCV000055151\|RCV001084211\|RCV000644331;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2110820	2110820	G	C	16:g.2110820G>C	ClinGen:CA013868,Tuberous sclerosis database (TSC2):TSC2_02149	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+6G>A	7249	TSC2	Uncertain significance	rs397515305	RCV000811629;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110820	2110820	G	A	16:g.2110820G>A	-
NM_000548.5(TSC2):c.1119+6G>T	7249	TSC2	Uncertain significance	-1	RCV002036730;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110820	2110820	G	T	2110820	-
NM_000548.5(TSC2):c.1119+12dup	7249	TSC2	Benign	rs750078037	RCV000463240;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110821	2110822	T	TG	16:g.2110821_2110822insG	ClinGen:CA7828381	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+8G>T	7249	TSC2	Likely benign	rs1377444061	RCV000936678;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110822	2110822	G	T	16:g.2110822G>T	-
NM_000548.5(TSC2):c.1119+8G>C	7249	TSC2	Likely benign	-1	RCV002173757;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110822	2110822	G	C	2110822	-
NM_000548.5(TSC2):c.1119+9G>A	7249	TSC2	Likely benign	-1	RCV001460211;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110823	2110823	G	A	2110823	-
NM_000548.5(TSC2):c.1119+9G>T	7249	TSC2	Likely benign	-1	RCV002153219;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110823	2110823	G	T	2110823	-
NM_000548.5(TSC2):c.1119+10G>C	7249	TSC2	Likely benign	-1	RCV001439754;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110824	2110824	G	C	2110824	-
NM_000548.5(TSC2):c.1119+11G>T	7249	TSC2	Likely benign	-1	RCV002211768;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110825	2110825	G	T	2110825	-
NM_000548.5(TSC2):c.1119+11G>C	7249	TSC2	Likely benign	-1	RCV002080860;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110825	2110825	G	C	2110825	-
NM_000548.5(TSC2):c.1119+20_1119+29del	7249	TSC2	Likely benign	-1	RCV002137337;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110829	2110838	AGGAGCTCCGG	A	2110828	-
NM_000548.5(TSC2):c.1119+19C>G	7249	TSC2	Uncertain significance	-1	RCV002046732;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110833	2110833	C	G	2110833	-
NM_000548.5(TSC2):c.1119+19C>T	7249	TSC2	Likely benign	-1	RCV002147173;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2110833	2110833	C	T	2110833	-
NM_000548.5(TSC2):c.1120-93T>C	7249	TSC2	Benign	rs17135764	RCV000042398\|RCV001544262;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111779	2111779	T	C	16:g.2111779T>C	Tuberous sclerosis database (TSC2):TSC2_01025,ClinGen:CA013876	CN517202 not provided;
NM_000548.5(TSC2):c.1120-20C>T	7249	TSC2	Likely benign	-1	RCV002154299;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111852	2111852	C	T	2111852	-
NM_000548.5(TSC2):c.1120-17C>T	7249	TSC2	Benign/Likely benign	rs201704675	RCV000418429\|RCV000514106\|RCV001797716;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111855	2111855	C	T	16:g.2111855C>T	ClinGen:CA028457	CN517202 not provided;
NM_000548.5(TSC2):c.1120-16G>A	7249	TSC2	Likely benign	rs768241936	RCV000424679\|RCV002059656;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111856	2111856	G	A	16:g.2111856G>A	ClinGen:CA028444	CN169374 not specified;
NM_000548.5(TSC2):c.1120-10G>A	7249	TSC2	Uncertain significance	-1	RCV001948748;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111862	2111862	G	A	2111862	-
NM_000548.5(TSC2):c.1120-9G>C	7249	TSC2	Likely benign	-1	RCV001494031;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111863	2111863	G	C	2111863	-
NM_000548.5(TSC2):c.1120-5dup	7249	TSC2	Likely benign	rs1555500983	RCV000644287;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111866	2111867	C	CT	NC_000016.9:g.2111867dup	ClinGen:CA658798485	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1120-6C>T	7249	TSC2	Likely benign	rs1327886668	RCV000892289\|RCV001411720;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111866	2111866	C	T	16:g.2111866C>T	-
NM_000548.5(TSC2):c.1120-5T>C	7249	TSC2	Conflicting interpretations of pathogenicity	rs896351318	RCV000562514\|RCV002060415;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111867	2111867	T	C	NC_000016.9:g.2111867T>C	ClinGen:CA658658350	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1120-3C>T	7249	TSC2	Uncertain significance	rs1349958011	RCV001208996;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111869	2111869	C	T	16:g.2111869C>T	-
NM_000548.5(TSC2):c.1120-1del	7249	TSC2	Likely pathogenic	rs2086678681	RCV001037962;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111871	2111871	AG	A	16:g.2111871_2111871del	-
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)	7249	TSC2	Uncertain significance	rs1440918649	RCV000531383;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111873	2111873	C	G	16:g.2111873C>G	ClinGen:CA394319747	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1126G>A (p.Asp376Asn)	7249	TSC2	Uncertain significance	rs1060500976	RCV000467319;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111878	2111878	G	A	NC_000016.9:g.2111878G>A	ClinGen:CA16614706	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)	7249	TSC2	Likely benign	rs1183791367	RCV000926801\|RCV001503737;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111880	2111880	C	T	16:g.2111880C>T	-
NM_000548.5(TSC2):c.1130G>A (p.Ser377Asn)	7249	TSC2	Uncertain significance	rs2086680090	RCV001340438;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111882	2111882	G	A	2111882	-
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)	7249	TSC2	Benign/Likely benign	rs201525586	RCV000189882\|RCV000234051\|RCV000573673;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111883	2111883	C	T	16:g.2111883C>T	ClinGen:CA028548	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)	7249	TSC2	Uncertain significance	rs201525586	RCV001298879;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111883	2111883	C	G	2111883	-
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)	7249	TSC2	Pathogenic	rs2086680808	RCV001194676;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111884	2111885	C	CCGGA	16:g.2111884_2111885insCGGA	-
NM_000548.5(TSC2):c.1132C>G (p.Pro378Ala)	7249	TSC2	Uncertain significance	-1	RCV001965126;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111884	2111884	C	G	2111884	-
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517154	RCV000043432\|RCV000572792\|RCV000842561\|RCV001084867;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111885	2111885	C	T	NC_000016.9:g.2111885C>T	ClinGen:CA013884,UniProtKB:P49815#VAR_009429,Tuberous sclerosis database (TSC2):TSC2_00165	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)	7249	TSC2	Uncertain significance	rs45517154	RCV000228935\|RCV001009957\|RCV001335403\|RCV001770189;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538\|MedGen:CN517202	16	2111885	2111885	C	G	NC_000016.9:g.2111885C>G	ClinGen:CA10583290	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs754343186	RCV000310144\|RCV001079274;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111886	2111886	G	A	16:g.2111886G>A	ClinGen:CA028565	CN169374 not specified;
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)	7249	TSC2	Likely benign	rs1057519260	RCV000415690;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111889	2111889	G	A	NC_000016.9:g.2111889G>A	ClinGen:CA16043998	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1138C>T (p.Leu380Phe)	7249	TSC2	Uncertain significance	-1	RCV002007673;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111890	2111890	C	T	2111890	-
NM_000548.5(TSC2):c.1141A>G (p.Arg381Gly)	7249	TSC2	Uncertain significance	-1	RCV002029006;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111893	2111893	A	G	2111893	-
NM_000548.5(TSC2):c.1142G>T (p.Arg381Met)	7249	TSC2	Uncertain significance	-1	RCV001901249;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111894	2111894	G	T	2111894	-
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)	7249	TSC2	Conflicting interpretations of pathogenicity	rs45517155	RCV000042928\|RCV000234777\|RCV000246218\|RCV000560947\|RCV001083136\|RCV001770061;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orph	16	2111895	2111895	G	A	16:g.2111895G>A	ClinGen:CA013938,Tuberous sclerosis database (TSC2):TSC2_00124	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1144A>T (p.Thr382Ser)	7249	TSC2	Uncertain significance	rs2086683040	RCV001245281;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111896	2111896	A	T	16:g.2111896A>T	-
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs)	7249	TSC2	Pathogenic	rs1567428094	RCV000685591;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111897	2111898	ACC	A	16:g.2111897_2111898del	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)	7249	TSC2	Uncertain significance	rs758511419	RCV000732364\|RCV000761152\|RCV001797789;	N	MedGen:CN517202\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111897	2111897	C	T	NC_000016.9:g.2111897C>T	-
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)	7249	TSC2	Benign/Likely benign	rs887128869	RCV000915201\|RCV001017458;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111898	2111898	C	A	16:g.2111898C>A	-
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)	7249	TSC2	Likely benign	-1	RCV002217876;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111898	2111898	C	T	2111898	-
NM_000548.5(TSC2):c.1149C>G (p.Ile383Met)	7249	TSC2	Uncertain significance	rs764246333	RCV001036197;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111901	2111901	C	G	16:g.2111901C>G	-
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)	7249	TSC2	Likely benign	-1	RCV001396580;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111901	2111901	C	T	2111901	-
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)	7249	TSC2	Conflicting interpretations of pathogenicity	rs397514881	RCV000055042\|RCV000644410\|RCV001009993;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111902	2111902	G	A	16:g.2111902G>A	ClinGen:CA013958,Tuberous sclerosis database (TSC2):TSC2_02341	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1153C>G (p.His385Asp)	7249	TSC2	Uncertain significance	rs1410290642	RCV000807183;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111905	2111905	C	G	16:g.2111905C>G	-
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)	7249	TSC2	Uncertain significance	rs757353933	RCV000570261\|RCV001054845;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111906	2111906	A	G	16:g.2111906A>G	ClinGen:CA028650	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1155T>C (p.His385=)	7249	TSC2	Likely benign	-1	RCV001481514;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111907	2111907	T	C	2111907	-
NM_000548.5(TSC2):c.1158C>T (p.Asp386=)	7249	TSC2	Likely benign	-1	RCV002192403;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111910	2111910	C	T	2111910	-
NM_000548.5(TSC2):c.1160dup (p.Leu388fs)	7249	TSC2	Pathogenic	rs878854075	RCV000228535;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111911	2111912	C	CT	NC_000016.9:g.2111912dup	ClinGen:CA10583291	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1161G>C (p.Leu387=)	7249	TSC2	Likely benign	rs781336082	RCV000915944;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111913	2111913	G	C	16:g.2111913G>C	-
NM_000548.5(TSC2):c.1161G>A (p.Leu387=)	7249	TSC2	Likely benign	-1	RCV002161955;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111913	2111913	G	A	2111913	-
NM_000548.5(TSC2):c.1164G>A (p.Leu388=)	7249	TSC2	Likely benign	-1	RCV001404731;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111916	2111916	G	A	2111916	-
NM_000548.5(TSC2):c.1167C>T (p.Thr389=)	7249	TSC2	Likely benign	rs745774782	RCV000458999;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111919	2111919	C	T	NC_000016.9:g.2111919C>T	ClinGen:CA028679	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)	7249	TSC2	Uncertain significance	rs2086688013	RCV001213112;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111920	2111920	A	T	16:g.2111920A>T	-
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)	7249	TSC2	Uncertain significance	rs1596303442	RCV001010094\|RCV001210022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111921	2111921	C	T	16:g.2111921C>T	-
NM_000548.5(TSC2):c.1170G>A (p.Thr390=)	7249	TSC2	Benign/Likely benign	rs376144933	RCV000163303\|RCV000189883\|RCV000232455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111922	2111922	G	A	16:g.2111922G>A	ClinGen:CA014017	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1172_1174del (p.Val391del)	7249	TSC2	Uncertain significance	rs1567428371	RCV000768349;	N	MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805; Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994	16	2111922	2111924	CGGT	C	NC_000016.9:g.2111924_2111926del	-
NM_000548.5(TSC2):c.1170G>T (p.Thr390=)	7249	TSC2	Likely benign	-1	RCV002096712;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111922	2111922	G	T	2111922	-
NM_000548.5(TSC2):c.1171G>A (p.Val391Met)	7249	TSC2	Uncertain significance	rs1555501071	RCV000556838;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111923	2111923	G	A	NC_000016.9:g.2111923G>A	ClinGen:CA394320318	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1172T>C (p.Val391Ala)	7249	TSC2	Uncertain significance	rs1414372155	RCV000704181;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111924	2111924	T	C	NC_000016.9:g.2111924T>C	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)	7249	TSC2	Pathogenic	rs2086689358	RCV001250760;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111929	2111929	G	T	16:g.2111929G>T	-
NM_000548.5(TSC2):c.1179G>A (p.Glu393=)	7249	TSC2	Likely benign	-1	RCV001433014;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111931	2111931	G	A	2111931	-
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)	7249	TSC2	Uncertain significance	rs1409309186	RCV000644099;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111932	2111932	C	G	NC_000016.9:g.2111932C>G	ClinGen:CA394320514	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1180C>T (p.Leu394=)	7249	TSC2	Likely benign	-1	RCV001464634;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111932	2111932	C	T	2111932	-
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)	7249	TSC2	Uncertain significance	-1	RCV001966993;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111932	2111932	C	A	2111932	-
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)	7249	TSC2	Benign/Likely benign	rs779951754	RCV000535285\|RCV000568185;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111934	2111934	G	A	NC_000016.9:g.2111934G>A	ClinGen:CA492961868	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)	7249	TSC2	Uncertain significance	rs1026632436	RCV000811652;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111936	2111936	G	A	16:g.2111936G>A	-
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)	7249	TSC2	Uncertain significance	rs1596303501	RCV001223306;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111938	2111938	G	A	16:g.2111938G>A	-
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)	7249	TSC2	Uncertain significance	rs1365616275	RCV000568241\|RCV000644079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111939	2111939	A	T	NC_000016.9:g.2111939A>T	ClinGen:CA394320618	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1191G>C (p.Gln397His)	7249	TSC2	Uncertain significance	rs2086690848	RCV001342284;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111943	2111943	G	C	2111943	-
NM_000548.5(TSC2):c.1194C>T (p.Asn398=)	7249	TSC2	Benign/Likely benign	rs369172347	RCV000474784\|RCV001010172\|RCV001637036;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN517202	16	2111946	2111946	C	T	NC_000016.9:g.2111946C>T	ClinGen:CA028727	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)	7249	TSC2	Pathogenic	rs773920155	RCV000265342\|RCV000609232;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111947	2111947	G	T	NC_000016.9:g.2111947G>T	ClinGen:CA10603287
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)	7249	TSC2	Uncertain significance	rs773920155	RCV001069408;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111947	2111947	G	A	16:g.2111947G>A	-
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)	7249	TSC2	Uncertain significance	-1	RCV002026290;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111954	2111954	A	G	2111954	-
NM_000548.5(TSC2):c.1203C>T (p.His401=)	7249	TSC2	Benign/Likely benign	rs199665674	RCV000575081\|RCV000644395\|RCV001619797;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2111955	2111955	C	T	16:g.2111955C>T	ClinGen:CA028767	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs771561593	RCV000545351\|RCV001010318;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111956	2111956	G	A	16:g.2111956G>A	ClinGen:CA028779	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)	7249	TSC2	Uncertain significance	rs771561593	RCV001202253\|RCV001751371;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2111956	2111956	G	T	16:g.2111956G>T	-
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val)	7249	TSC2	Uncertain significance	rs777172185	RCV000524014\|RCV001851491;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111957	2111957	G	T	NC_000016.9:g.2111957G>T	ClinGen:CA394320844
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)	7249	TSC2	Likely benign	rs558873383	RCV000944452;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111958	2111958	G	A	16:g.2111958G>A	-
NM_000548.5(TSC2):c.1208C>T (p.Ser403Phe)	7249	TSC2	Uncertain significance	rs1555501098	RCV000560176;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111960	2111960	C	T	NC_000016.9:g.2111960C>T	ClinGen:CA394320929	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1208C>G (p.Ser403Cys)	7249	TSC2	Uncertain significance	-1	RCV001990064;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111960	2111960	C	G	2111960	-
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)	7249	TSC2	Pathogenic	rs45457701	RCV000042938\|RCV001382878;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111962	2111962	C	T	16:g.2111962C>T	ClinGen:CA014047,Tuberous sclerosis database (TSC2):TSC2_00387	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1212G>A (p.Gln404=)	7249	TSC2	Likely benign	rs1156766051	RCV000534351;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111964	2111964	G	A	16:g.2111964G>A	ClinGen:CA492961983	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)	7249	TSC2	Conflicting interpretations of pathogenicity	rs765622787	RCV000226213\|RCV000568157;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	2111965	2111965	G	C	16:g.2111965G>C	ClinGen:CA028805	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1217_1218del (p.Arg406fs)	7249	TSC2	Pathogenic	-1	RCV001939659;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111965	2111966	GGA	G	2111964	-
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)	7249	TSC2	Uncertain significance	rs1057518321	RCV000549305;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111966	2111966	A	G	16:g.2111966A>G	ClinGen:CA394321063	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1215G>A (p.Glu405=)	7249	TSC2	Likely benign	-1	RCV001470369;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111967	2111967	G	A	2111967	-
NM_000548.5(TSC2):c.1216A>G (p.Arg406Gly)	7249	TSC2	Uncertain significance	-1	RCV001901102;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111968	2111968	A	G	2111968	-
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)	7249	TSC2	Uncertain significance	rs2086693907	RCV001218235;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111969	2111969	G	A	16:g.2111969G>A	-
NM_000548.5(TSC2):c.1220A>T (p.Tyr407Phe)	7249	TSC2	Uncertain significance	rs1596303621	RCV001217751;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111972	2111972	A	T	16:g.2111972A>T	-
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys)	7249	TSC2	Uncertain significance	rs1596303621	RCV001307044;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111972	2111972	A	G	2111972	-
NM_000548.5(TSC2):c.1221C>T (p.Tyr407=)	7249	TSC2	Likely benign	rs397514897	RCV000877180\|RCV001426034;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111973	2111973	C	T	16:g.2111973C>T	-
NM_000548.5(TSC2):c.1223T>G (p.Phe408Cys)	7249	TSC2	Uncertain significance	rs1555501123	RCV000527407;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111975	2111975	T	G	16:g.2111975T>G	ClinGen:CA394321151	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)	7249	TSC2	Pathogenic	rs137854127	RCV000042402\|RCV001388102;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111976	2111980	TTGAAC	T	NC_000016.9:g.2111978_2111982del	ClinGen:CA014105,Tuberous sclerosis database (TSC2):TSC2_00769
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)	7249	TSC2	Likely benign	-1	RCV001465216;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111980	2111980	C	T	2111980	-
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)	7249	TSC2	Conflicting interpretations of pathogenicity	rs137854298	RCV000042942\|RCV000201010;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111981	2111981	T	G	16:g.2111981T>G	ClinGen:CA014118,Tuberous sclerosis database (TSC2):TSC2_01125	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1230G>A (p.Leu410=)	7249	TSC2	Likely benign	-1	RCV001404505;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111982	2111982	G	A	2111982	-
NM_000548.5(TSC2):c.1230G>C (p.Leu410=)	7249	TSC2	Likely benign	-1	RCV002155173;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111982	2111982	G	C	2111982	-
NM_000548.5(TSC2):c.1231G>T (p.Val411Leu)	7249	TSC2	Uncertain significance	rs1567428822	RCV000686789;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111983	2111983	G	T	16:g.2111983G>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1233G>A (p.Val411=)	7249	TSC2	Uncertain significance	rs2086697274	RCV001043658;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111985	2111985	G	A	16:g.2111985G>A	-
NM_000548.5(TSC2):c.1235A>G (p.Glu412Gly)	7249	TSC2	Uncertain significance	rs137854026	RCV000537703;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111987	2111987	A	G	NC_000016.9:g.2111987A>G	ClinGen:CA394321332	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1236G>A (p.Glu412=)	7249	TSC2	Likely benign	rs1596303728	RCV000924638;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111988	2111988	G	A	16:g.2111988G>A	-
NM_000548.5(TSC2):c.1237A>G (p.Arg413Gly)	7249	TSC2	Uncertain significance	-1	RCV001961127;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111989	2111989	A	G	2111989	-
NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)	7249	TSC2	Uncertain significance	rs1596303739	RCV000820928;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111991	2111991	A	T	16:g.2111991A>T	-
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)	7249	TSC2	Likely pathogenic	rs1057523509	RCV000430283\|RCV001861619;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111992	2111992	T	G	NC_000016.9:g.2111992T>G	ClinGen:CA16608029
NM_000548.5(TSC2):c.1242T>G (p.Cys414Trp)	7249	TSC2	Uncertain significance	-1	RCV001924427;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111994	2111994	T	G	2111994	-
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)	7249	TSC2	Conflicting interpretations of pathogenicity	rs374936223	RCV000163295\|RCV000189884\|RCV000726305\|RCV001081464\|RCV001120921\|RCV001770122;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orph	16	2111996	2111996	C	T	16:g.2111996C>T	ClinGen:CA014143	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)	7249	TSC2	Benign/Likely benign	rs757325185	RCV000163893\|RCV000229260\|RCV000616256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374	16	2111997	2111997	G	A	16:g.2111997G>A	ClinGen:CA014150	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1245G>C (p.Ala415=)	7249	TSC2	Likely benign	-1	RCV001477499;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111997	2111997	G	C	2111997	-
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)	7249	TSC2	Uncertain significance	rs45517157	RCV001317874;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111998	2111998	G	A	2111998	-
NM_000548.5(TSC2):c.1247A>C (p.Asp416Ala)	7249	TSC2	Uncertain significance	rs117111015	RCV000803069;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2111999	2111999	A	C	16:g.2111999A>C	-
NM_000548.5(TSC2):c.1248C>T (p.Asp416=)	7249	TSC2	Likely benign	rs1555501144	RCV000548355;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112000	2112000	C	T	NC_000016.9:g.2112000C>T	ClinGen:CA492962110	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)	7249	TSC2	Uncertain significance	-1	RCV001977135;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112000	2112000	C	G	2112000	-
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)	7249	TSC2	Pathogenic	rs45517158	RCV000043443\|RCV000660342;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112001	2112001	C	T	16:g.2112001C>T	ClinGen:CA014169,Tuberous sclerosis database (TSC2):TSC2_00812	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1252_1253del (p.Arg418fs)	7249	TSC2	Pathogenic	rs2086699971	RCV001232211;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112002	2112003	CAG	C	16:g.2112002_2112003del	-
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser)	7249	TSC2	Uncertain significance	rs767670580	RCV001318263;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112006	2112006	G	T	2112006	-
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)	7249	TSC2	Pathogenic	rs45517159	RCV000043444\|RCV000201101;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112007	2112007	C	T	16:g.2112007C>T	ClinGen:CA014179,Tuberous sclerosis database (TSC2):TSC2_00389	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)	7249	TSC2	Uncertain significance	rs1237876686	RCV000694218;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112008	2112008	C	T	16:g.2112008C>T	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+2_1257+3del	7249	TSC2	Likely pathogenic	rs1596303814	RCV000816573;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112009	2112010	CTG	C	16:g.2112009_2112010del	-
NM_000548.5(TSC2):c.1257+1G>A	7249	TSC2	Pathogenic	rs397515066	RCV000055300\|RCV000680620;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112010	2112010	G	A	16:g.2112010G>A	ClinGen:CA014198,Tuberous sclerosis database (TSC2):TSC2_02155	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+1G>C	7249	TSC2	Pathogenic	rs397515066	RCV000813443;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112010	2112010	G	C	16:g.2112010G>C	-
NM_000548.5(TSC2):c.1257+2T>C	7249	TSC2	Pathogenic	rs45509697	RCV000042945\|RCV000722173;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112011	2112011	T	C	NC_000016.9:g.2112011T>C	ClinGen:CA014221,Tuberous sclerosis database (TSC2):TSC2_00166
NM_000548.5(TSC2):c.1257+6A>G	7249	TSC2	Uncertain significance	-1	RCV001944162;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112015	2112015	A	G	2112015	-
NM_000548.5(TSC2):c.1257+7C>T	7249	TSC2	Likely benign	rs1596303823	RCV000945243\|RCV001433266;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112016	2112016	C	T	16:g.2112016C>T	-
NM_000548.5(TSC2):c.1257+8C>A	7249	TSC2	Conflicting interpretations of pathogenicity	rs767392684	RCV000266941\|RCV000432687\|RCV000456424;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112017	2112017	C	A	NC_000016.9:g.2112017C>A	ClinGen:CA028945	CN169374 not specified;
NM_000548.5(TSC2):c.1257+8C>G	7249	TSC2	Likely benign	rs767392684	RCV000526754;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112017	2112017	C	G	NC_000016.9:g.2112017C>G	ClinGen:CA658658355	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+9C>T	7249	TSC2	Likely benign	-1	RCV001398934;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112018	2112018	C	T	2112018	-
NM_000548.5(TSC2):c.1257+9C>A	7249	TSC2	Likely benign	-1	RCV002169110;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112018	2112018	C	A	2112018	-
NM_000548.5(TSC2):c.1257+10C>T	7249	TSC2	Likely benign	rs756063576	RCV000613514\|RCV002066623;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112019	2112019	C	T	16:g.2112019C>T	ClinGen:CA028862	CN169374 not specified;
NM_000548.5(TSC2):c.1257+10C>G	7249	TSC2	Benign/Likely benign	rs756063576	RCV000644336\|RCV001079699;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112019	2112019	C	G	NC_000016.9:g.2112019C>G	ClinGen:CA620704813	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+13C>G	7249	TSC2	Likely benign	-1	RCV002197687;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112022	2112022	C	G	2112022	-
NM_000548.5(TSC2):c.1257+14C>T	7249	TSC2	Benign	rs748972223	RCV000189885\|RCV002054239;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112023	2112023	C	T	NC_000016.9:g.2112023C>T	ClinGen:CA028882	CN169374 not specified;
NM_000548.5(TSC2):c.1257+17G>T	7249	TSC2	Likely benign	rs369939081	RCV000439804\|RCV002061549;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112026	2112026	G	T	16:g.2112026G>T	ClinGen:CA028886	CN169374 not specified;
NM_000548.5(TSC2):c.1257+18G>A	7249	TSC2	Likely benign	-1	RCV002198184;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112027	2112027	G	A	2112027	-
NM_000548.5(TSC2):c.1257+20G>A	7249	TSC2	Uncertain significance	rs1436234038	RCV000521794\|RCV001858024;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112029	2112029	G	A	NC_000016.9:g.2112029G>A	ClinGen:CA620704814
NM_000548.5(TSC2):c.1258-96_1362del	7249	TSC2	Pathogenic	-1	RCV002002424;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112400	2112971	TGGGCTCTGACAGCAAACCAGCCTCTCGACCAGCAGCCCAGTGTGGAGAAGGAGAGCGCCGGAGGGGCAGAGGGGCAACACCGGCTCTTCTTTTGACAGGAGTCCTCCCT	T	2112399	-
NM_000548.5(TSC2):c.1258-20A>G	7249	TSC2	Likely benign	-1	RCV002197107;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112478	2112478	A	G	2112478	-
NM_000548.5(TSC2):c.1258-19C>T	7249	TSC2	Likely benign	-1	RCV002207968;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112479	2112479	C	T	2112479	-
NM_000548.5(TSC2):c.1258-18C>T	7249	TSC2	Likely benign	-1	RCV002092637;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112480	2112480	C	T	2112480	-
NM_000548.5(TSC2):c.1258-17G>A	7249	TSC2	Likely benign	-1	RCV002205960;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112481	2112481	G	A	2112481	-
NM_000548.5(TSC2):c.1258-16G>T	7249	TSC2	Likely benign	rs979174870	RCV000443863\|RCV002058980;	N	MedGen:CN169374\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112482	2112482	G	T	16:g.2112482G>T	ClinGen:CA16607141	CN169374 not specified;
NM_000548.5(TSC2):c.1258-15C>T	7249	TSC2	Likely benign	-1	RCV002113293;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112483	2112483	C	T	2112483	-
NM_000548.5(TSC2):c.1258-10_1258-8del	7249	TSC2	Likely benign	-1	RCV001555629\|RCV002072079;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112484	2112486	CTCT	C	2112483	-
NM_000548.5(TSC2):c.1258-10C>G	7249	TSC2	Conflicting interpretations of pathogenicity	rs794727093	RCV000174493\|RCV000724618\|RCV001082397;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112488	2112488	C	G	16:g.2112488C>G	ClinGen:CA014237	CN169374 not specified;
NM_000548.5(TSC2):c.1258-10C>T	7249	TSC2	Likely benign	-1	RCV001405850;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112488	2112488	C	T	2112488	-
NM_000548.5(TSC2):c.1258-9T>G	7249	TSC2	Likely benign	rs377188047	RCV000929463\|RCV001474661;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112489	2112489	T	G	16:g.2112489T>G	-
NM_000548.5(TSC2):c.1258-8_1258-6del	7249	TSC2	Likely benign	-1	RCV001461140;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112489	2112491	CTTT	C	2112488	-
NM_000548.5(TSC2):c.1258-8T>G	7249	TSC2	Conflicting interpretations of pathogenicity	rs1175574879	RCV000982162\|RCV001463616\|RCV001772177;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538	16	2112490	2112490	T	G	16:g.2112490T>G	-
NM_000548.5(TSC2):c.1258-5G>T	7249	TSC2	Conflicting interpretations of pathogenicity	rs925954967	RCV000460314\|RCV000502223\|RCV000716880\|RCV001536183;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN169374\|MedGen:C2711754\|MedGen:CN517202	16	2112493	2112493	G	T	NC_000016.9:g.2112493G>T	ClinGen:CA16614911	CN169374 not specified;
NM_000548.5(TSC2):c.1258-5G>A	7249	TSC2	Likely benign	rs925954967	RCV000978886\|RCV001399821;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112493	2112493	G	A	16:g.2112493G>A	-
NM_000548.5(TSC2):c.1258-4A>G	7249	TSC2	Likely benign	-1	RCV001402803;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112494	2112494	A	G	2112494	-
NM_000548.5(TSC2):c.1258-3C>G	7249	TSC2	Uncertain significance	rs45517161	RCV000042403\|RCV001852873;	N	MedGen:C0041341,OMIM:PS191100, Orphanet:805\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112495	2112495	C	G	16:g.2112495C>G	ClinGen:CA014296,Tuberous sclerosis database (TSC2):TSC2_00390	C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1258-3C>A	7249	TSC2	Uncertain significance	rs45517161	RCV000690388;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112495	2112495	C	A	NC_000016.9:g.2112495C>A	-	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1258-2A>G	7249	TSC2	Pathogenic	rs45517160	RCV001329367;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112496	2112496	A	G	2112496	-
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)	7249	TSC2	Pathogenic	rs796053484	RCV000189977\|RCV001051912;	N	MedGen:CN517202\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112498	2112498	G	T	NC_000016.9:g.2112498G>T	ClinGen:CA319432
NM_000548.5(TSC2):c.1258G>A (p.Glu420Lys)	7249	TSC2	Uncertain significance	rs796053484	RCV000541364;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112498	2112498	G	A	NC_000016.9:g.2112498G>A	ClinGen:CA394321763	C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)	7249	TSC2	Benign/Likely benign	rs876658585	RCV000571950\|RCV001429133\|RCV001637089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805\|MedGen:CN517202	16	2112500	2112500	G	A	16:g.2112500G>A	ClinGen:CA492962334	C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1261T>A (p.Ser421Thr)	7249	TSC2	Uncertain significance	rs2086765786	RCV001219703;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112501	2112501	T	A	16:g.2112501T>A	-
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)	7249	TSC2	Pathogenic	rs2086765953	RCV001194677;	N	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805	16	2112502	2112505	TCCTC	T	16:g.2112502_2112505del	-
NM_000548.5(TSC2):