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Parent Node:
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Tuberous Sclerosis (D014402)
..Starting node
..expand
Tuberous Sclerosis 2 (C566021)

       Child Nodes:



 Sister Nodes: 
..expandPolycystic kidneys, severe infantile with tuberous sclerosis (C536328)
..expandTsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..expandTuberous Sclerosis 1 (C565346)
..expandTuberous 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 LSDB:  
Genes: IFNG; TSC2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0009727Achromatic retinal patches
3 HP:0009720Adenoma sebaceum
4 HP:0009592Astrocytoma
5 HP:0007018Attention deficit hyperactivity disorder
6 HP:0000717Autism
NAMDC:  Autism
7 HP:0000957Cafe-au-lait spot
8 HP:0009729Cardiac rhabdomyoma
9 HP:0002514Cerebral calcification
10 HP:0010762Chordoma
11 HP:0009717Cortical tubers
12 HP:0002888Ependymoma
13 HP:0000169Gingival fibromatosis
14 HP:0001425Heterogeneous
15 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
16 HP:0012469Infantile spasms
17 HP:0001249Intellectual disabilityHP:0040284
18 HP:0009734Optic nerve glioma
19 HP:0003812Phenotypic variability
20 HP:0000826Precocious puberty
21 HP:0006772Renal angiomyolipoma
22 HP:0005584Renal cell carcinoma
23 HP:0000107Renal cyst
24 HP:0001250Seizures
NAMDC:  Seizures
25 HP:0009721Shagreen patch
26 HP:0001328Specific learning disability
27 HP:0001482Subcutaneous nodule
28 HP:0009716Subependymal nodules
29 HP:0009724Subungual fibromas
30 HP:0001716Wolff-Parkinson-White syndrome
NAMDC:  Wolff-Parkinson-White
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000016.10:g.(?_2039924)_(2093096_?)del-1MIR1225;NTHL1;PKD1;TSC2Pathogenic-1RCV001032167|RCV001386091; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252143097nana-1-
NC_000016.10:g.(?_2039924)_(2093096_?)dup-1MIR1225;NTHL1;PKD1;TSC2Uncertain significance-1RCV001032498|RCV001318970; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252143097nana-1-
NC_000016.10:g.(?_2039924)_(2048065_?)dup-1NTHL1;TSC2Uncertain significance-1RCV001033362|RCV001364791; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252098066nana-1-
NC_000016.10:g.(?_2039924)_(2065645_?)dup-1NTHL1;TSC2Uncertain significance-1RCV001031245|RCV001345089; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252115646nana-1-
NC_000016.10:g.(?_2039924)_(2082514_?)dup-1NTHL1;TSC2Uncertain significance-1RCV001033192|RCV001364792; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252132515nana-1-
NC_000016.10:g.(?_2039924)_(2060823_?)dup-1NTHL1;TSC2Uncertain significance-1RCV001031073|RCV001318971; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252110824nana-1-
NC_000016.9:g.(?_2089925)_(2104451_?)del-1NTHL1;TSC2Pathogenic-1RCV001960628|RCV001960627; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620899252104451nana-1-
NC_000016.9:g.(?_2097700)_(2129439_?)dup-1NTHL1;TSC2Uncertain significance-1RCV001916096|RCV001916097; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620977002129439nana-1-
NM_000488.4(SERPINC1):c.1213C>A (p.Leu405Ile)462SERPINC1not providedrs483352859RCV000087280; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173876593173876593GT1:g.173876593G>TClinGen:CA150675C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1154-7C>A462SERPINC1not providedrs483352858RCV000087278; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173876659173876659GT1:g.173876659G>TClinGen:CA150673C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1030GAG[1] (p.Glu345del)462SERPINC1not providedrs483352855RCV000087277; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173878808173878810TCTCT1:g.173878808_173878810delClinGen:CA150670C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.1016G>A (p.Trp339Ter)462SERPINC1Pathogenicrs483352856RCV000087276|RCV001857426; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|Human Phenotype Ontology:HP:0001976,MONDO:MONDO:0013144,MedGen:C0272375,OMIM:613118, Orphanet:821173878827173878827CT1:g.173878827C>TClinGen:CA150667C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.849_853dup (p.Tyr285Ter)462SERPINC1not providedrs483352857RCV000087291; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173878989173878990TTACATC1:g.173878989_173878990insACATCClinGen:CA150699C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.641C>A (p.Ser214Tyr)462SERPINC1not providedrs483352854RCV000087290; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173880013173880013GT1:g.173880013G>TClinGen:CA150697,UniProtKB:P01008#VAR_007057C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.624+11G>A462SERPINC1not providedrs483352846RCV000087289; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173880926173880926CT1:g.173880926C>TClinGen:CA150696C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.598G>C (p.Ala200Pro)462SERPINC1not providedrs483352853RCV000087288; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173880963173880963CG1:g.173880963C>GClinGen:CA150693C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.536T>A (p.Phe179Tyr)462SERPINC1not providedrs483352847RCV000087287; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881025173881025AT1:g.173881025A>TClinGen:CA150690C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.506C>T (p.Ser169Phe)462SERPINC1not providedrs483352851RCV000087286; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881055173881055GA1:g.173881055G>AClinGen:CA150687C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.491G>A (p.Arg164Gln)462SERPINC1not providedrs483352852RCV000087285; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881070173881070CT1:g.173881070C>TClinGen:CA150684C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.486_487del (p.Tyr163fs)462SERPINC1not providedrs483352850RCV000087284; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881074173881075TAGT1:g.173881074_173881075delClinGen:CA150683C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.458T>A (p.Phe153Tyr)462SERPINC1not providedrs483352848RCV000087283; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881103173881103AT1:g.173881103A>TClinGen:CA150680C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.409-24A>C462SERPINC1not providedrs483352849RCV000087281; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173881176173881176TG1:g.173881176T>GClinGen:CA150678C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.116_123del (p.Ile39fs)462SERPINC1not providedrs483352844RCV000087279; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173883976173883983CTGTGCAGAC1:g.173883976_173883983delClinGen:CA150674C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.42-12G>A462SERPINC1not providedrs483352845RCV000087282; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173884069173884069CT1:g.173884069C>TClinGen:CA150679C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.-11G>A462SERPINC1not providedrs483352843RCV000087274; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173886408173886408CT1:g.173886408C>TClinGen:CA150665C1860707 613254 Tuberous sclerosis 2;
NM_000488.4(SERPINC1):c.-35C>T462SERPINC1not providedrs200460215RCV000087275; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051173886432173886432GA1:g.173886432G>AClinGen:CA150666C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_624055)_(2115656_?)del7249TSC2Pathogenic-1RCV000811345; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805166240552115656nana-
NC_000016.9:g.(?_624055)_(2148005_?)del7249TSC2Pathogenic-1RCV001033183; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805166240552148005nana-1-
NC_000016.9:g.(?_1203718)_(2185710_?)del7249TSC2Pathogenic-1RCV001033886; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051612037182185710nana-1-
NC_000016.10:g.(?_1523498)_(2064447_?)del7249TSC2Pathogenic-1RCV001032344; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051615734992114448nana-1-
NC_000016.9:g.(?_2003468)_(2126543_?)del7249TSC2Pathogenic-1RCV001949704; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620034682126543nana-1-
NC_000016.9:g.(?_2034220)_(2136892_?)del7249TSC2Pathogenic-1RCV001939677; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620342202136892nana-1-
NC_000016.9:g.(?_2089915)_(2110824_?)dup7249TSC2Uncertain significance-1RCV000821273; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899152110824nana-
NC_000016.9:g.(?_2089915)_(2138621_?)dup7249TSC2Uncertain significance-1RCV000795442; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899152138621nana-
NC_000016.10:g.(?_2039914)_(2048065_?)dup7249TSC2Uncertain significance-1RCV001032335; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899152098066nana-1-
NC_000016.9:g.(?_2089925)_(2114438_?)del7249TSC2Pathogenic-1RCV001386093; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252114438nana-1-
NC_000016.9:g.(?_2089925)_(2098774_?)del7249TSC2Pathogenic-1RCV001955370; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252098774nana-1-
NC_000016.9:g.(?_2089925)_(2098066_?)del7249TSC2Uncertain significance-1RCV001900298; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252098066nana-1-
NC_000016.9:g.(?_2089925)_(2136390_?)dup7249TSC2Uncertain significance-1RCV001880693; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620899252136390nana-1-
NC_000016.9:g.(?_2096109)_(2100507_?)del7249TSC2Pathogenic-1RCV001942201; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620961092100507nana-1-
NC_000016.9:g.(?_2097990)_(2138611_?)del7249TSC2Pathogenic-1RCV001962941; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620979902138611nana-1-
NC_000016.9:g.(?_2098588)_(2138713_?)dup7249TSC2Uncertain significance-1RCV000474005; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985882138713nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048587)_(2065635_?)del7249TSC2Pathogenic-1RCV000459900; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985882115636nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098597)_(2150587_?)del7249TSC2Pathogenic-1RCV000525326; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972150587nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098597)_(2130398_?)del7249TSC2Pathogenic-1RCV000551128; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972130398nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2048773_?)del7249TSC2Pathogenic-1RCV000526208; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972098774nana-1-
NC_000016.9:g.(?_2098597)_(2115656_?)del7249TSC2Pathogenic-1RCV000536234; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972115656nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2106697_?)del7249TSC2Pathogenic-1RCV000708278; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972156698nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048596)_(2074415_?)del7249TSC2Pathogenic-1RCV000819217; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972124416nana-
NC_000016.10:g.(?_2048596)_(2119398_?)del7249TSC2Pathogenic-1RCV000800659; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972169399nana-
NC_000016.10:g.(?_2048596)_(2098004_?)del7249TSC2Pathogenic-1RCV001033917; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972148005nana-1-
NC_000016.10:g.(?_2048596)_(2111891_?)del7249TSC2Pathogenic-1RCV001033829; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972161892nana-1-
NC_000016.10:g.(?_2048596)_(2135709_?)del7249TSC2Pathogenic-1RCV001033700; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972185710nana-1-
NC_000016.9:g.(?_2098597)_(2103473_?)del7249TSC2Pathogenic-1RCV001388941; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972103473nana-1-
NC_000016.9:g.(?_2098597)_(2108894_?)del7249TSC2Pathogenic-1RCV001383833; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620985972108894nana-1-
NC_000016.9:g.(?_2098611)_(2110820_?)dup7249TSC2Uncertain significance-1RCV000644425; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986112110820nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2048610)_(2088616_?)del7249TSC2Pathogenic-1RCV000644422; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986112138617nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098617)_(2110824_?)dup7249TSC2Uncertain significance-1RCV001364793; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986172110824nana-1-
NM_000548.5(TSC2):c.1A>G (p.Met1Val)7249TSC2Uncertain significance-1RCV001867345; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986172098617AG2098617-
NM_000548.5(TSC2):c.2T>C (p.Met1Thr)7249TSC2Uncertain significancers2084667702RCV001299467; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986182098618TC2098618-
NM_000548.5(TSC2):c.2T>A (p.Met1Lys)7249TSC2Uncertain significance-1RCV001891847; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986182098618TA2098618-
NM_000548.5(TSC2):c.4G>T (p.Ala2Ser)7249TSC2Uncertain significance-1RCV001894812; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986202098620GT2098620-
NM_000548.5(TSC2):c.5C>T (p.Ala2Val)7249TSC2Uncertain significancers2084668501RCV001057284; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986212098621CT16:g.2098621C>T-
NM_000548.5(TSC2):c.9A>G (p.Lys3=)7249TSC2Likely benign-1RCV002208367; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986252098625AG2098625-
NM_000548.5(TSC2):c.11C>T (p.Pro4Leu)7249TSC2Uncertain significancers147206318RCV000815336; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986272098627CT16:g.2098627C>T-
NM_000548.5(TSC2):c.13del (p.Thr5fs)7249TSC2Pathogenicrs2084669441RCV001039905; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986282098628CAC16:g.2098628_2098628del-
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala)7249TSC2Uncertain significancers45517093RCV000042993|RCV000644262; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986292098629AG16:g.2098629A>GClinGen:CA014750,Tuberous sclerosis database (TSC2):TSC2_00932C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.16dup (p.Ser6fs)7249TSC2Pathogenic-1RCV002049578; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986302098631CCA2098630-
NM_000548.5(TSC2):c.16A>G (p.Ser6Gly)7249TSC2Uncertain significancers1555494544RCV000644162; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986322098632AGNC_000016.9:g.2098632A>GClinGen:CA394300569C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.16A>T (p.Ser6Cys)7249TSC2Uncertain significancers1555494544RCV001062131; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986322098632AT16:g.2098632A>T-
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn)7249TSC2Conflicting interpretations of pathogenicityrs758239066RCV000213113|RCV000537615; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986332098633GA16:g.2098633G>AClinGen:CA033570C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.17G>C (p.Ser6Thr)7249TSC2Uncertain significance-1RCV001969155; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986332098633GC2098633-
NM_000548.5(TSC2):c.20_21del (p.Lys7fs)7249TSC2Pathogenic-1RCV001951282; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986352098636CAAC2098634-
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg)7249TSC2Benign/Likely benignrs137854215RCV000042450|RCV000466851|RCV000574466|RCV001719782; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021620986362098636AG16:g.2098636A>GClinGen:CA016732,Tuberous sclerosis database (TSC2):TSC2_01044C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.20A>C (p.Lys7Thr)7249TSC2Uncertain significancers137854215RCV001213412; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986362098636AC16:g.2098636A>C-
NM_000548.5(TSC2):c.22G>A (p.Asp8Asn)7249TSC2Uncertain significancers1596233815RCV000798636; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986382098638GA16:g.2098638G>A-
NM_000548.5(TSC2):c.22del (p.Asp8fs)7249TSC2Pathogenic-1RCV001974986; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986382098638AGA2098637-
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter)7249TSC2Pathogenicrs397515228RCV000055535|RCV001248431; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986422098642CG16:g.2098642C>GClinGen:CA017918,Tuberous sclerosis database (TSC2):TSC2_01143C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.27A>G (p.Ser9=)7249TSC2Likely benignrs1555494555RCV000535024; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986432098643AGNC_000016.9:g.2098643A>GClinGen:CA492954118C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2098645)_(2130379_2131595)del7249TSC2Pathogenic-1RCV000449513; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986452131595nana-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.29G>T (p.Gly10Val)7249TSC2Uncertain significancers2084671697RCV001207076; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986452098645GT16:g.2098645G>T-
NM_000548.5(TSC2):c.30C>T (p.Gly10=)7249TSC2Conflicting interpretations of pathogenicityrs876659726RCV000223166|RCV001323370; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986462098646CT16:g.2098646C>TClinGen:CA10579869C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.30C>G (p.Gly10=)7249TSC2Likely benignrs876659726RCV000871568|RCV001409876; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986462098646CG16:g.2098646C>G-
NM_000548.5(TSC2):c.31_33delinsCTA (p.Leu11=)7249TSC2Benign/Likely benignrs1064794201RCV000485758|RCV001018649|RCV001797735; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986472098649TTGCTANC_000016.9:g.2098647_2098649delinsCTAClinGen:CA16620083CN169374 not specified;
NM_000548.5(TSC2):c.31T>C (p.Leu11=)7249TSC2Benign/Likely benignrs978517404RCV000644369|RCV001019156|RCV001550289; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021620986472098647TCNC_000016.9:g.2098647T>CClinGen:CA276768580C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.33G>A (p.Leu11=)7249TSC2Likely benignrs1190907341RCV000969814|RCV001437194; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986492098649GA16:g.2098649G>A-
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter)7249TSC2Pathogenicrs45512692RCV000013202|RCV000042837; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:8051620986502098650AT16:g.2098650A>TClinGen:CA019229,Tuberous sclerosis database (TSC2):TSC2_00047,OMIM:191092.0003C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.37_39del (p.Glu13del)7249TSC2Uncertain significancers778509364RCV000792358; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986512098653AAGGA16:g.2098651_2098653del-
NM_000548.5(TSC2):c.36G>A (p.Lys12=)7249TSC2Likely benignrs1596233951RCV000930139; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986522098652GA16:g.2098652G>A-
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys)7249TSC2Uncertain significancers1555494586RCV000562925|RCV001853810; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986532098653GA16:g.2098653G>AClinGen:CA394300845C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.39G>T (p.Glu13Asp)7249TSC2Uncertain significance-1RCV001369543; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986552098655GT2098655-
NM_000548.5(TSC2):c.41del (p.Lys14fs)7249TSC2Pathogenicrs2084674122RCV001214238; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986562098656GAG16:g.2098656_2098656del-
NM_000548.5(TSC2):c.41A>G (p.Lys14Arg)7249TSC2Uncertain significance-1RCV001901149; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986572098657AG2098657-
NM_000548.5(TSC2):c.45dup (p.Lys16Ter)7249TSC2Pathogenicrs397515020RCV000201207; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986582098659GGT16:g.2098658_2098659insTClinGen:CA279123C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)7249TSC2Pathogenicrs397514958RCV000055146|RCV001250502; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986592098665GTTTAAGAG16:g.2098659_2098665delClinGen:CA020645,Tuberous sclerosis database (TSC2):TSC2_02410C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.45_53del (p.Phe15_Ile17del)7249TSC2Uncertain significance-1RCV001937492; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986602098668TTTAAGATTCT2098659-
NM_000548.5(TSC2):c.48G>C (p.Lys16Asn)7249TSC2Uncertain significancers2084674938RCV001324147; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986642098664GC2098664-
NM_000548.5(TSC2):c.49A>G (p.Ile17Val)7249TSC2Uncertain significancers1274194851RCV001023388|RCV001337454; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986652098665AG16:g.2098665A>G-
NM_000548.5(TSC2):c.51T>C (p.Ile17=)7249TSC2Likely benign-1RCV002151492; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986672098667TC2098667-
NM_000548.5(TSC2):c.54G>T (p.Leu18=)7249TSC2Likely benign-1RCV001475033; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986702098670GT2098670-
NM_000548.5(TSC2):c.54G>C (p.Leu18=)7249TSC2Likely benign-1RCV002157984; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986702098670GC2098670-
NM_000548.5(TSC2):c.54G>A (p.Leu18=)7249TSC2Likely benign-1RCV002207118; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986702098670GA2098670-
NM_000548.5(TSC2):c.55T>C (p.Leu19=)7249TSC2Likely benign-1RCV001422305; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986712098671TC2098671-
NM_000548.5(TSC2):c.59G>T (p.Gly20Val)7249TSC2Uncertain significance-1RCV001947221; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986752098675GT2098675-
NM_000548.5(TSC2):c.60A>G (p.Gly20=)7249TSC2Likely benignrs1060504108RCV000462795|RCV001506612; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986762098676AGNC_000016.9:g.2098676A>GClinGen:CA16615025C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.60A>C (p.Gly20=)7249TSC2Likely benignrs1060504108RCV000891699; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986762098676AC16:g.2098676A>C-
NM_000548.5(TSC2):c.61C>A (p.Leu21Met)7249TSC2Uncertain significancers2084676177RCV001315122; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986772098677CA2098677-
NM_000548.5(TSC2):c.65G>C (p.Gly22Ala)7249TSC2Uncertain significancers2084676497RCV001320097; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986812098681GC2098681-
NM_000548.5(TSC2):c.70C>A (p.Pro24Thr)7249TSC2Uncertain significancers1567380585RCV000690087; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986862098686CANC_000016.9:g.2098686C>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.71C>T (p.Pro24Leu)7249TSC2Uncertain significancers868467487RCV001205363; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986872098687CT16:g.2098687C>T-
NM_000548.5(TSC2):c.71C>A (p.Pro24Gln)7249TSC2Uncertain significancers868467487RCV001348642; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986872098687CA2098687-
NM_000548.5(TSC2):c.72G>A (p.Pro24=)7249TSC2Likely benignrs754121475RCV000932387|RCV001414056; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986882098688GA16:g.2098688G>A-
NM_000548.5(TSC2):c.72G>C (p.Pro24=)7249TSC2Likely benign-1RCV001448135; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986882098688GC2098688-
NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)7249TSC2Uncertain significancers759867905RCV000644165; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986902098690GANC_000016.9:g.2098690G>AClinGen:CA056318C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.75G>A (p.Arg25=)7249TSC2Likely benign-1RCV001489134; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986912098691GA2098691-
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu)7249TSC2Uncertain significancers1555494636RCV000520283|RCV000556475; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986932098693CTNC_000016.9:g.2098693C>TClinGen:CA394301263
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp)7249TSC2Uncertain significancers2084677815RCV001118862|RCV001882385; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986952098695AG16:g.2098695A>G-
NM_000548.5(TSC2):c.82C>A (p.Pro28Thr)7249TSC2Uncertain significancers200480606RCV001224456; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986982098698CA16:g.2098698C>A-
NM_000548.5(TSC2):c.83C>A (p.Pro28His)7249TSC2Benign/Likely benignrs1057522105RCV000428159|RCV000468568; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620986992098699CA16:g.2098699C>AClinGen:CA16607134CN169374 not specified;
NM_000548.5(TSC2):c.86G>A (p.Arg29Lys)7249TSC2Uncertain significancers1567380695RCV000693713; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987022098702GANC_000016.9:g.2098702G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.86G>C (p.Arg29Thr)7249TSC2Uncertain significancers1567380695RCV001215302; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987022098702GC16:g.2098702G>C-
NM_000548.5(TSC2):c.87G>T (p.Arg29Ser)7249TSC2Uncertain significancers1010489256RCV001313020; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987032098703GT2098703-
NM_000548.5(TSC2):c.87G>A (p.Arg29=)7249TSC2Likely benign-1RCV002156886; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987032098703GA2098703-
NM_000548.5(TSC2):c.89C>G (p.Ser30Cys)7249TSC2Uncertain significancers1425163522RCV000699032; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987052098705CGNC_000016.9:g.2098705C>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.92C>T (p.Ala31Val)7249TSC2Uncertain significancers1567380741RCV000700683; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987082098708CTNC_000016.9:g.2098708C>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.94G>A (p.Glu32Lys)7249TSC2Uncertain significancers2084679567RCV001247049; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987102098710GA16:g.2098710G>A-
NM_000548.5(TSC2):c.95A>G (p.Glu32Gly)7249TSC2Uncertain significancers1482573368RCV001070398; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987112098711AG16:g.2098711A>G-
NM_000548.5(TSC2):c.96G>A (p.Glu32=)7249TSC2Conflicting interpretations of pathogenicityrs1567380772RCV000719918|RCV000867393|RCV001731910; NMedGen:C2711754|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620987122098712GANC_000016.9:g.2098712G>A-
NM_000548.5(TSC2):c.97G>A (p.Gly33Ser)7249TSC2Uncertain significancers370230541RCV000563255|RCV000644191; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987132098713GA16:g.2098713G>AClinGen:CA056868C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.98G>A (p.Gly33Asp)7249TSC2Benignrs1352220583RCV000644123; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987142098714GA16:g.2098714G>AClinGen:CA394301452C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.100A>G (p.Lys34Glu)7249TSC2Uncertain significancers2084680573RCV001322979; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987162098716AG2098716-
NM_000548.5(TSC2):c.101A>C (p.Lys34Thr)7249TSC2Benign/Likely benignrs777988634RCV000189880|RCV000475609|RCV001009700; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621620987172098717ACNC_000016.9:g.2098717A>CClinGen:CA027975CN169374 not specified;
NM_000548.5(TSC2):c.105_106del (p.Gln35fs)7249TSC2Pathogenicrs2084681207RCV001068366; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987202098721CAGC16:g.2098720_2098721del-
NM_000548.5(TSC2):c.105G>A (p.Gln35=)7249TSC2Likely benign-1RCV001485554; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987212098721GA2098721-
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala)7249TSC2Conflicting interpretations of pathogenicityrs757113497RCV000189881|RCV000467572|RCV000717924; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C27117541620987222098722AG16:g.2098722A>GClinGen:CA028094CN169374 not specified;
NM_000548.5(TSC2):c.107C>T (p.Thr36Met)7249TSC2Uncertain significance-1RCV001371341; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987232098723CT2098723-
NM_000548.5(TSC2):c.108G>A (p.Thr36=)7249TSC2Benign/Likely benignrs781075483RCV000472571|RCV001683509; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620987242098724GANC_000016.9:g.2098724G>AClinGen:CA028121C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.113T>C (p.Phe38Ser)7249TSC2Uncertain significancers745604417RCV001306471; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987292098729TC2098729-
NM_000548.5(TSC2):c.113T>A (p.Phe38Tyr)7249TSC2Uncertain significance-1RCV001367176; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987292098729TA2098729-
NM_000548.5(TSC2):c.114T>C (p.Phe38=)7249TSC2Likely benignrs1060504110RCV000465604|RCV001429563; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987302098730TCNC_000016.9:g.2098730T>CClinGen:CA16614887C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.114_115insC (p.Ile39fs)7249TSC2Pathogenicrs2084683129RCV001049073; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987302098731TTC16:g.2098730_2098731insC-
NM_000548.5(TSC2):c.116TCA[1] (p.Ile40del)7249TSC2Uncertain significance-1RCV001960128; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987312098733TATCT2098730-
NM_000548.5(TSC2):c.116T>C (p.Ile39Thr)7249TSC2Uncertain significancers184437554RCV000468085; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987322098732TCNC_000016.9:g.2098732T>CClinGen:CA16614890C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.117C>A (p.Ile39=)7249TSC2Likely benign-1RCV002204052; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987332098733CA2098733-
NM_000548.5(TSC2):c.118A>G (p.Ile40Val)7249TSC2Uncertain significancers2084683845RCV001062049; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987342098734AG16:g.2098734A>G-
NM_000548.5(TSC2):c.121A>T (p.Thr41Ser)7249TSC2Uncertain significancers1596234558RCV000811607; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987372098737AT16:g.2098737A>T-
NM_000548.5(TSC2):c.121A>G (p.Thr41Ala)7249TSC2Uncertain significance-1RCV001914808; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987372098737AG2098737-
NM_000548.5(TSC2):c.122C>T (p.Thr41Ile)7249TSC2Uncertain significancers1385450866RCV001347824; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987382098738CT2098738-
NM_000548.5(TSC2):c.123C>T (p.Thr41=)7249TSC2Benign/Likely benignrs1060504100RCV000464170|RCV000573695; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621620987392098739CTNC_000016.9:g.2098739C>TClinGen:CA16615026C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.125C>T (p.Ala42Val)7249TSC2Uncertain significance-1RCV001969899; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987412098741CT2098741-
NM_000548.5(TSC2):c.126G>A (p.Ala42=)7249TSC2Conflicting interpretations of pathogenicityrs886043548RCV000374977|RCV000562725|RCV001083832; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987422098742GA16:g.2098742G>AClinGen:CA10605643C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.126G>C (p.Ala42=)7249TSC2Likely benign-1RCV002109524; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987422098742GC2098742-
NM_000548.5(TSC2):c.127G>A (p.Glu43Lys)7249TSC2Uncertain significancers2084685904RCV001071459|RCV001811642; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620987432098743GA16:g.2098743G>A-
NM_000548.5(TSC2):c.129A>G (p.Glu43=)7249TSC2Likely benign-1RCV002156053; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987452098745AG2098745-
NM_000548.5(TSC2):c.131T>C (p.Ile44Thr)7249TSC2Uncertain significancers1190102918RCV000644150|RCV001010984; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621620987472098747TC16:g.2098747T>CClinGen:CA394301782C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)7249TSC2Pathogenicrs137854360RCV000042406|RCV000484317|RCV000554425; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987482098751TACTGTNC_000016.9:g.2098749_2098752delClinGen:CA014408,Tuberous sclerosis database (TSC2):TSC2_00341
NM_000548.5(TSC2):c.132A>G (p.Ile44Met)7249TSC2Uncertain significancers796053508RCV000190066|RCV000644127; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987482098748AGNC_000016.9:g.2098748A>GClinGen:CA319579
NM_000548.5(TSC2):c.133C>T (p.Leu45=)7249TSC2Benign/Likely benignrs1555494707RCV000533001|RCV001011119; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621620987492098749CT16:g.2098749C>TClinGen:CA492954621C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.133C>G (p.Leu45Val)7249TSC2Uncertain significancers1555494707RCV000792194; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987492098749CG16:g.2098749C>G-
NM_000548.5(TSC2):c.134T>G (p.Leu45Arg)7249TSC2Uncertain significancers1383831944RCV000543191; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987502098750TGNC_000016.9:g.2098750T>GClinGen:CA394301803C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.134T>C (p.Leu45Pro)7249TSC2Uncertain significancers1383831944RCV001223108; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987502098750TC16:g.2098750T>C-
NM_000548.5(TSC2):c.138_138+1del7249TSC2Pathogenicrs137854117RCV000042937|RCV000413387|RCV001056624; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987512098752TGAT16:g.2098751_2098752delClinGen:CA262847,Tuberous sclerosis database (TSC2):TSC2_00796CN517202 not provided;
NM_000548.5(TSC2):c.136_138+1del7249TSC2Pathogenicrs137854117RCV000546941; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987512098754TGAGAT16:g.2098751_2098754delClinGen:CA658658339C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.135G>T (p.Leu45=)7249TSC2Likely benignrs1555494715RCV000644388; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987512098751GT16:g.2098751G>TClinGen:CA492954638C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.135G>C (p.Leu45=)7249TSC2Likely benign-1RCV002166955; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987512098751GC2098751-
NM_000548.5(TSC2):c.138+6_138+9del7249TSC2Uncertain significancers2084688881RCV001232901; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987532098756AGAGTA16:g.2098753_2098756del-
NM_000548.5(TSC2):c.138+2T>C7249TSC2Pathogenicrs137854226RCV000042410|RCV000518195|RCV001852874; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987562098756TC16:g.2098756T>CClinGen:CA014657,Tuberous sclerosis database (TSC2):TSC2_01099CN517202 not provided;
NM_000548.5(TSC2):c.138+4A>G7249TSC2Uncertain significance-1RCV001360135; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987582098758AG2098758-
NM_000548.5(TSC2):c.138+5G>A7249TSC2Pathogenicrs45481400RCV000043461|RCV001380069|RCV001843466; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021620987592098759GA16:g.2098759G>AClinGen:CA014690,Tuberous sclerosis database (TSC2):TSC2_00034C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.138+5G>C7249TSC2Pathogenic-1RCV001381931; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987592098759GC2098759-
NM_000548.5(TSC2):c.138+6T>C7249TSC2Uncertain significancers1252109762RCV000806644; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987602098760TC16:g.2098760T>C-
NM_000548.5(TSC2):c.138+7G>A7249TSC2Likely benignrs1596234900RCV000977155|RCV001429252; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987612098761GA16:g.2098761G>A-
NM_000548.5(TSC2):c.138+10C>G7249TSC2Uncertain significancers748932830RCV000460123; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987642098764CGNC_000016.9:g.2098764C>GClinGen:CA029771C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.138+13C>T7249TSC2Likely benign-1RCV002220105; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987672098767CT2098767-
NM_000548.5(TSC2):c.138+14C>G7249TSC2Benignrs201204330RCV000125643|RCV001118863|RCV001797628; NMedGen:CN169374|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987682098768CGNC_000016.9:g.2098768C>GClinGen:CA014640CN169374 not specified;
NM_000548.5(TSC2):c.138+14C>T7249TSC2Likely benign-1RCV002132717; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987682098768CT2098768-
NM_000548.5(TSC2):c.138+15T>A7249TSC2Likely benign-1RCV002204508; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987692098769TA2098769-
NM_000548.5(TSC2):c.138+16G>A7249TSC2Likely benignrs1555494744RCV000604776|RCV002064233; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987702098770GA16:g.2098770G>AClinGen:CA658798464CN169374 not specified;
NM_000548.5(TSC2):c.138+18G>A7249TSC2Likely benign-1RCV002101300; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987722098772GA2098772-
NM_000548.5(TSC2):c.138+19T>G7249TSC2Likely benign-1RCV002181311; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987732098773TG2098773-
NM_000548.5(TSC2):c.138+19T>C7249TSC2Likely benign-1RCV002174461; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987732098773TC2098773-
NM_000548.5(TSC2):c.138+20C>G7249TSC2Benignrs45517092RCV000043023|RCV000125644|RCV001528276|RCV002054852; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987742098774CG16:g.2098774C>GClinGen:CA014650,Tuberous sclerosis database (TSC2):TSC2_00342CN169374 not specified;
NM_000548.5(TSC2):c.138+20C>T7249TSC2Likely benign-1RCV002167126; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051620987742098774CT2098774-
NM_000548.5(TSC2):c.139-17_139-15del7249TSC2Likely benign-1RCV002103163; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003792100381TTTCT2100378-
NC_000016.9:g.(?_2100381)_(2100507_?)del7249TSC2Pathogenic-1RCV000554791; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003812100507nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2100381)_(2115656_?)dup7249TSC2Pathogenic-1RCV000708080; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003812115656nana-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-17C>T7249TSC2Likely benign-1RCV002210115; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003842100384CT2100384-
NM_000548.5(TSC2):c.139-15T>G7249TSC2Likely benignrs563094714RCV000600709|RCV002066812; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003862100386TG16:g.2100386T>GClinGen:CA029945CN169374 not specified;
NM_000548.5(TSC2):c.139-15T>A7249TSC2Likely benign-1RCV002184934; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003862100386TA2100386-
NM_000548.5(TSC2):c.139-14T>G7249TSC2Likely benign-1RCV002114259; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003872100387TG2100387-
NC_000016.10:g.(?_2050390)_(2050496_?)del7249TSC2Pathogenic-1RCV000810670; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003912100497nana-
NM_000548.5(TSC2):c.139-10C>T7249TSC2Likely benignrs996641937RCV000877088; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003912100391CT16:g.2100391C>T-
NC_000016.10:g.(?_2050390)_(2088620_?)dup7249TSC2Uncertain significance-1RCV001033634; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003912138621nana-1-
NC_000016.9:g.(?_2100391)_(2100497_?)dup7249TSC2Uncertain significance-1RCV001303986; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003912100497nana-1-
NM_000548.5(TSC2):c.139-9_139-8delinsCT7249TSC2Likely benign-1RCV001434360; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003922100393TCCT2100392-
NM_000548.5(TSC2):c.139-8C>T7249TSC2Likely benign-1RCV001397706; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003932100393CT2100393-
NM_000548.5(TSC2):c.139-8C>G7249TSC2Likely benign-1RCV002145422; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003932100393CG2100393-
NM_000548.5(TSC2):c.139-6C>G7249TSC2Uncertain significancers778516569RCV000466793; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003952100395CGNC_000016.9:g.2100395C>GClinGen:CA16614605C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-6C>T7249TSC2Benign/Likely benignrs778516569RCV000457202|RCV001577665|RCV001770360; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621003952100395CTNC_000016.9:g.2100395C>TClinGen:CA030153C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.139-4C>G7249TSC2Likely benign-1RCV001407090; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003972100397CG2100397-
NM_000548.5(TSC2):c.139-4C>T7249TSC2Likely benign-1RCV002117239; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003972100397CT2100397-
NM_000548.5(TSC2):c.139-2A>G7249TSC2Pathogenicrs2084954667RCV001069910; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621003992100399AG16:g.2100399A>G-
NM_000548.5(TSC2):c.139-1G>A7249TSC2Pathogenicrs1567386603RCV000702898; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004002100400GANC_000016.9:g.2100400G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.141A>G (p.Glu47=)7249TSC2Likely benign-1RCV002212209; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004032100403AG2100403-
NM_000548.5(TSC2):c.142C>G (p.Leu48Val)7249TSC2Uncertain significance-1RCV002043372; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004042100404CG2100404-
NM_000548.5(TSC2):c.146G>A (p.Ser49Asn)7249TSC2Uncertain significancers2084956276RCV001329368; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004082100408GA2100408-
NM_000548.5(TSC2):c.147C>T (p.Ser49=)7249TSC2Uncertain significancers1555495692RCV000544845; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004092100409CTNC_000016.9:g.2100409C>TClinGen:CA492954855C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.148A>G (p.Met50Val)7249TSC2Conflicting interpretations of pathogenicityrs140618379RCV000726243|RCV000243799|RCV001086583|RCV001011846; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621004102100410AGNC_000016.9:g.2100410A>GClinGen:CA030828CN169374 not specified;
NM_000548.5(TSC2):c.149T>C (p.Met50Thr)7249TSC2Uncertain significancers1060500955RCV000460225; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004112100411TCNC_000016.9:g.2100411T>CClinGen:CA16614895C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.151G>C (p.Glu51Gln)7249TSC2Uncertain significancers910205065RCV001039280; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004132100413GC16:g.2100413G>C-
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala)7249TSC2Conflicting interpretations of pathogenicityrs772617064RCV000468262|RCV000575026|RCV001705072; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621004142100414AC16:g.2100414A>CClinGen:CA030988C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.153A>G (p.Glu51=)7249TSC2Likely benignrs746366461RCV000609890|RCV002066527; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004152100415AG16:g.2100415A>GClinGen:CA492954857CN169374 not specified;
NM_000548.5(TSC2):c.153A>C (p.Glu51Asp)7249TSC2Uncertain significancers746366461RCV000699718; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004152100415ACNC_000016.9:g.2100415A>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp)7249TSC2Uncertain significancers746366461RCV001011988|RCV001860687; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004152100415AT16:g.2100415A>T-
NM_000548.5(TSC2):c.154T>C (p.Cys52Arg)7249TSC2Uncertain significancers2084958377RCV001302635; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004162100416TC2100416-
NM_000548.5(TSC2):c.160C>T (p.Leu54Phe)7249TSC2Uncertain significancers1394176023RCV001057035; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004222100422CT16:g.2100422C>T-
NM_000548.5(TSC2):c.160C>G (p.Leu54Val)7249TSC2Uncertain significance-1RCV002013141; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004222100422CG2100422-
NM_000548.5(TSC2):c.163A>C (p.Asn55His)7249TSC2Uncertain significancers2084958940RCV001050079; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004252100425AC16:g.2100425A>C-
NM_000548.5(TSC2):c.164A>G (p.Asn55Ser)7249TSC2Uncertain significancers1555495709RCV000644247; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004262100426AGNC_000016.9:g.2100426A>GClinGen:CA394303217C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.165C>T (p.Asn55=)7249TSC2Benign/Likely benignrs1596245687RCV001012551|RCV001499710; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004272100427CT16:g.2100427C>T-
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser)7249TSC2Benign/Likely benignrs144165984RCV000148918|RCV000226143|RCV000571093|RCV001704075; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621004292100429AG16:g.2100429A>GClinGen:CA015434C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.167A>T (p.Asn56Ile)7249TSC2Uncertain significancers144165984RCV001213199; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004292100429AT16:g.2100429A>T-
NM_000548.5(TSC2):c.169C>T (p.Arg57Cys)7249TSC2Uncertain significancers1430159201RCV000644128|RCV001012687; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621004312100431CT16:g.2100431C>TClinGen:CA394303257C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.170G>A (p.Arg57His)7249TSC2Uncertain significancers397514949RCV000055135|RCV000472366; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004322100432GA16:g.2100432G>AClinGen:CA015456,Tuberous sclerosis database (TSC2):TSC2_01144C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.172A>G (p.Ile58Val)7249TSC2Uncertain significancers2084960700RCV001035627; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004342100434AG16:g.2100434A>G-
NM_000548.5(TSC2):c.174C>A (p.Ile58=)7249TSC2Likely benign-1RCV001425029; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004362100436CA2100436-
NM_000548.5(TSC2):c.174C>T (p.Ile58=)7249TSC2Likely benign-1RCV002129482; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004362100436CT2100436-
NM_000548.5(TSC2):c.175C>T (p.Arg59Trp)7249TSC2Uncertain significancers1015282988RCV000815994|RCV001249157|RCV001013003; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621004372100437CT16:g.2100437C>T-
NM_000548.5(TSC2):c.175C>A (p.Arg59=)7249TSC2Uncertain significance-1RCV001928611; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004372100437CA2100437-
NM_000548.5(TSC2):c.176G>A (p.Arg59Gln)7249TSC2Uncertain significancers1161261925RCV000568734|RCV001298117; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004382100438GA16:g.2100438G>AClinGen:CA394303300C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.176G>C (p.Arg59Pro)7249TSC2Uncertain significancers1161261925RCV000644163; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004382100438GC16:g.2100438G>CClinGen:CA394303302C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.178A>G (p.Met60Val)7249TSC2Uncertain significancers1053960780RCV001059775; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004402100440AG16:g.2100440A>G-
NM_000548.5(TSC2):c.178A>T (p.Met60Leu)7249TSC2Uncertain significance-1RCV002009515; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004402100440AT2100440-
NM_000548.5(TSC2):c.181A>T (p.Ile61Leu)7249TSC2Uncertain significancers2084961446RCV001041377; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004432100443AT16:g.2100443A>T-
NM_000548.5(TSC2):c.181A>G (p.Ile61Val)7249TSC2Uncertain significancers2084961446RCV001212093; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004432100443AG16:g.2100443A>G-
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)7249TSC2Uncertain significancers2084961841RCV001304127; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004452100445AG2100445-
NM_000548.5(TSC2):c.188A>T (p.Gln63Leu)7249TSC2Uncertain significance-1RCV001978581; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004502100450AT2100450-
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)7249TSC2Uncertain significancers397515081RCV000055320|RCV000644085|RCV001118864|RCV001815178; NMONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621004522100452AG16:g.2100452A>GClinGen:CA016191,Tuberous sclerosis database (TSC2):TSC2_02103C1510586 Autism spectrum disorder;
NM_000548.5(TSC2):c.190A>T (p.Ile64Phe)7249TSC2Uncertain significancers397515081RCV000799165; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004522100452AT16:g.2100452A>T-
NM_000548.5(TSC2):c.193T>C (p.Cys65Arg)7249TSC2Uncertain significancers1060500965RCV000459248; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004552100455TCNC_000016.9:g.2100455T>CClinGen:CA16614896C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.194G>A (p.Cys65Tyr)7249TSC2Uncertain significance-1RCV001362238; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004562100456GA2100456-
NM_000548.5(TSC2):c.195T>C (p.Cys65=)7249TSC2Likely benign-1RCV001415134; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004572100457TC2100457-
NM_000548.5(TSC2):c.198A>G (p.Glu66=)7249TSC2Likely benignrs1596245865RCV000976269|RCV001484782; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004602100460AG16:g.2100460A>G-
NM_000548.5(TSC2):c.199G>A (p.Val67Ile)7249TSC2Uncertain significancers774506901RCV000644157; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004612100461GANC_000016.9:g.2100461G>AClinGen:CA035477C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.199G>T (p.Val67Phe)7249TSC2Uncertain significancers774506901RCV001042241; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004612100461GT16:g.2100461G>T-
NM_000548.5(TSC2):c.201C>T (p.Val67=)7249TSC2Benign/Likely benignrs45460096RCV000043366|RCV000465495|RCV001014071|RCV001091436; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621004632100463CT16:g.2100463C>TClinGen:CA016432,Tuberous sclerosis database (TSC2):TSC2_00344C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.201_202delinsTC (p.Ala68Pro)7249TSC2Uncertain significancers1567387058RCV000692507; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004632100464CGTCNC_000016.9:g.2100463_2100464delinsTC-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.201C>A (p.Val67=)7249TSC2Likely benign-1RCV001471377; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004632100463CA2100463-
NM_000548.5(TSC2):c.201C>G (p.Val67=)7249TSC2Likely benign-1RCV002128640; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004632100463CG2100463-
NM_000548.5(TSC2):c.202G>C (p.Ala68Pro)7249TSC2Uncertain significancers767626323RCV000691567; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004642100464GCNC_000016.9:g.2100464G>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.202G>A (p.Ala68Thr)7249TSC2Uncertain significancers767626323RCV001241744; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004642100464GA16:g.2100464G>A-
NM_000548.5(TSC2):c.205A>G (p.Lys69Glu)7249TSC2Uncertain significancers45517095RCV000644149; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004672100467AGNC_000016.9:g.2100467A>GClinGen:CA036103C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.209C>G (p.Thr70Ser)7249TSC2Uncertain significancers1013995962RCV000820820; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004712100471CG16:g.2100471C>G-
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)7249TSC2Uncertain significancers1013995962RCV000999527|RCV001235307; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004712100471CA16:g.2100471C>A-
NM_000548.5(TSC2):c.210C>G (p.Thr70=)7249TSC2Likely benign-1RCV001472965; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004722100472CG2100472-
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn)7249TSC2Conflicting interpretations of pathogenicityrs766200310RCV000190013|RCV001079014|RCV001770139; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621004752100475GTNC_000016.9:g.2100475G>TClinGen:CA036834
NM_000548.5(TSC2):c.214A>G (p.Lys72Glu)7249TSC2Uncertain significancers2084967199RCV001314218; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004762100476AG2100476-
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg)7249TSC2Uncertain significancers1489623582RCV000549108|RCV001014482; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621004772100477AGNC_000016.9:g.2100477A>GClinGen:CA394303587C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.216A>G (p.Lys72=)7249TSC2Likely benign-1RCV001459944; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004782100478AG2100478-
NM_000548.5(TSC2):c.216A>C (p.Lys72Asn)7249TSC2Uncertain significance-1RCV002050196; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004782100478AC2100478-
NM_000548.5(TSC2):c.217T>G (p.Phe73Val)7249TSC2Uncertain significancers1596245977RCV001042005; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004792100479TG16:g.2100479T>G-
NM_000548.5(TSC2):c.221A>G (p.Glu74Gly)7249TSC2Uncertain significancers2084968438RCV001350626; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004832100483AG2100483-
NM_000548.5(TSC2):c.222A>G (p.Glu74=)7249TSC2Likely benign-1RCV001496535; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004842100484AG2100484-
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys)7249TSC2Benign/Likely benignrs145470784RCV000148919|RCV000460205|RCV000561674|RCV001086061; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004852100485GA16:g.2100485G>AClinGen:CA017070C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.223G>C (p.Glu75Gln)7249TSC2Uncertain significancers145470784RCV001351266; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004852100485GC2100485-
NM_000548.5(TSC2):c.225+1G>A7249TSC2Likely pathogenicrs1567387207RCV000768348|RCV001378178; NMONDO: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:C1861621004882100488GANC_000016.9:g.2100488G>A-
NM_000548.5(TSC2):c.225+2T>C7249TSC2Uncertain significancers397515105RCV001035357; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004892100489TC16:g.2100489T>C-
NM_000548.5(TSC2):c.225+3A>G7249TSC2Uncertain significancers1060500963RCV000470560; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004902100490AGNC_000016.9:g.2100490A>GClinGen:CA16614607C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+4G>A7249TSC2Benignrs201901739RCV000473509; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004912100491GANC_000016.9:g.2100491G>AClinGen:CA037914C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+5G>T7249TSC2Conflicting interpretations of pathogenicityrs778371172RCV000465873|RCV001014932; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621004922100492GTNC_000016.9:g.2100492G>TClinGen:CA037940C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.225+7T>C7249TSC2Likely benignrs1596246066RCV000936286; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004942100494TC16:g.2100494T>C-
NM_000548.5(TSC2):c.225+10T>A7249TSC2Likely benign-1RCV001486390; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004972100497TA2100497-
NM_000548.5(TSC2):c.225+12C>A7249TSC2Likely benignrs886038352RCV000244526|RCV002057393; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004992100499CANC_000016.9:g.2100499C>AClinGen:CA10587220CN169374 not specified;
NM_000548.5(TSC2):c.225+12C>T7249TSC2Likely benign-1RCV002136980; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621004992100499CT2100499-
NM_000548.5(TSC2):c.225+16T>A7249TSC2Likely benign-1RCV002086424; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621005032100503TA2100503-
NM_000548.5(TSC2):c.225+19G>A7249TSC2Likely benignrs980875984RCV000601128|RCV002063279; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621005062100506GA16:g.2100506G>AClinGen:CA276769513CN169374 not specified;
NM_000548.5(TSC2):c.225+19G>C7249TSC2Likely benign-1RCV002180032; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621005062100506GC2100506-
NM_000548.5(TSC2):c.225+20C>G7249TSC2Uncertain significance-1RCV002001825; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621005072100507CG2100507-
NC_000016.10:g.(?_2053322)_(2092208_?)del7249TSC2Pathogenic-1RCV000708500; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033232142209nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2053322)_(2057459_?)del7249TSC2Pathogenic-1RCV000817938; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033232107460nana-
NC_000016.9:g.(?_2103323)_(2185710_?)del7249TSC2Pathogenic-1RCV001381343; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033232185710nana-1-
NC_000016.9:g.(?_2103323)_(2115656_?)del7249TSC2Pathogenic-1RCV001951426; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033232115656nana-1-
NM_000548.5(TSC2):c.226-20G>A7249TSC2Likely benign-1RCV002163368; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033232103323GA2103323-
NM_000548.5(TSC2):c.226-19T>G7249TSC2Likely benign-1RCV002191587; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033242103324TG2103324-
NM_000548.5(TSC2):c.226-18C>T7249TSC2Likely benign-1RCV002104828; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033252103325CT2103325-
NM_000548.5(TSC2):c.226-17C>T7249TSC2Likely benign-1RCV002092032; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033262103326CT2103326-
NM_000548.5(TSC2):c.226-15C>T7249TSC2Likely benign-1RCV002120232; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033282103328CT2103328-
NM_000548.5(TSC2):c.226-13C>T7249TSC2Benign/Likely benignrs886038353RCV000249272|RCV001797698|RCV001711658; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033302103330CT16:g.2103330C>TClinGen:CA10587221CN169374 not specified;
NM_000548.5(TSC2):c.226-8G>A7249TSC2Uncertain significancers2085356308RCV001319983; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033352103335GA2103335-
NM_000548.5(TSC2):c.226-7G>C7249TSC2Likely benignrs1555496912RCV000644412; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033362103336GC16:g.2103336G>CClinGen:CA658798466C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2103337)_(2110820_?)del7249TSC2Pathogenic-1RCV001381342; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033372110820nana-1-
NM_000548.5(TSC2):c.226-5G>A7249TSC2Likely benignrs1596258779RCV000870288; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033382103338GA16:g.2103338G>A-
NM_000548.5(TSC2):c.226-5G>C7249TSC2Likely benignrs1596258779RCV000921363|RCV001495322; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033382103338GC16:g.2103338G>C-
NM_000548.5(TSC2):c.226-2A>G7249TSC2Pathogenicrs45517096RCV000042457|RCV000201113; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033412103341AG16:g.2103341A>GClinGen:CA017124,Tuberous sclerosis database (TSC2):TSC2_00798C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.226-1G>A7249TSC2Likely pathogenicrs397515134RCV000055397|RCV001379463; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033422103342GA16:g.2103342G>AClinGen:CA017118,Tuberous sclerosis database (TSC2):TSC2_02329C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.226C>T (p.His76Tyr)7249TSC2Conflicting interpretations of pathogenicityrs574779350RCV000367424|RCV000470663|RCV000565361|RCV001721240; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621033432103343CTNC_000016.9:g.2103343C>TClinGen:CA038111C0027672 Hereditary cancer-predisposing syndrome;
NC_000016.10:g.(?_2053342)_(2060813_?)del7249TSC2Pathogenic-1RCV000466727; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033432110814nana-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.228C>T (p.His76=)7249TSC2Benign/Likely benignrs45517097RCV000042459|RCV000163371|RCV000186671|RCV000205829|RCV001531834; NMedGen: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:CN5172021621033452103345CT16:g.2103345C>TClinGen:CA017149,Tuberous sclerosis database (TSC2):TSC2_00035C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.229G>A (p.Ala77Thr)7249TSC2Uncertain significancers777459404RCV000699574|RCV001756222; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033462103346GANC_000016.9:g.2103346G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser)7249TSC2Uncertain significancers777459404RCV001243533; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033462103346GT16:g.2103346G>T-
NM_000548.5(TSC2):c.231A>C (p.Ala77=)7249TSC2Benign/Likely benign-1RCV001438643|RCV001664878; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033482103348AC2103348-
NM_000548.5(TSC2):c.231A>G (p.Ala77=)7249TSC2Likely benign-1RCV002154118; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033482103348AG2103348-
NM_000548.5(TSC2):c.233T>C (p.Val78Ala)7249TSC2Uncertain significancers1163221525RCV000796282; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033502103350TC16:g.2103350T>C-
NM_000548.5(TSC2):c.234G>A (p.Val78=)7249TSC2Likely benignrs1347487177RCV000930778; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033512103351GA16:g.2103351G>A-
NM_000548.5(TSC2):c.235G>A (p.Glu79Lys)7249TSC2Uncertain significance-1RCV001890261; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033522103352GA2103352-
NM_000548.5(TSC2):c.236A>T (p.Glu79Val)7249TSC2Uncertain significancers2085359439RCV001238358; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033532103353AT16:g.2103353A>T-
NM_000548.5(TSC2):c.237A>T (p.Glu79Asp)7249TSC2Uncertain significancers1567394781RCV000685553; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033542103354ATNC_000016.9:g.2103354A>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.238G>A (p.Ala80Thr)7249TSC2Uncertain significancers2085359793RCV001212999; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033552103355GA16:g.2103355G>A-
NM_000548.5(TSC2):c.239C>T (p.Ala80Val)7249TSC2Uncertain significancers142580483RCV000812994; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033562103356CT16:g.2103356C>T-
NM_000548.5(TSC2):c.243C>G (p.Leu81=)7249TSC2Likely benign-1RCV001399420; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033602103360CG2103360-
NM_000548.5(TSC2):c.244T>C (p.Trp82Arg)7249TSC2Uncertain significancers878854083RCV000229782; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033612103361TCNC_000016.9:g.2103361T>CClinGen:CA10583278C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter)7249TSC2Pathogenicrs397514933RCV000055114|RCV001853087; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033622103362GA16:g.2103362G>AClinGen:CA017462,Tuberous sclerosis database (TSC2):TSC2_01145C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter)7249TSC2Pathogenicrs1567394860RCV000704652; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033632103363GANC_000016.9:g.2103363G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.249G>A (p.Lys83=)7249TSC2Likely benign-1RCV001393254; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033662103366GA2103366-
NM_000548.5(TSC2):c.251C>A (p.Ala84Glu)7249TSC2Uncertain significance-1RCV001977371; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033682103368CA2103368-
NM_000548.5(TSC2):c.252G>A (p.Ala84=)7249TSC2Likely benignrs1316543957RCV000945273; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033692103369GA16:g.2103369G>A-
NM_000548.5(TSC2):c.255C>T (p.Val85=)7249TSC2Benign/Likely benignrs45517098RCV000042832|RCV000125703|RCV000163465|RCV000203895|RCV001531835; NMedGen: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:CN5172021621033722103372CT16:g.2103372C>TClinGen:CA017667,Tuberous sclerosis database (TSC2):TSC2_00074C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr)7249TSC2Benign/Likely benignrs1190158836RCV000696894|RCV001564684; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033732103373GA16:g.2103373G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.257C>T (p.Ala86Val)7249TSC2Conflicting interpretations of pathogenicityrs1369594860RCV000701640|RCV001016002|RCV001580538|RCV001771989; NMONDO: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:5381621033742103374CTNC_000016.9:g.2103374C>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.258G>A (p.Ala86=)7249TSC2Benign/Likely benignrs397514912RCV000055087|RCV001016033|RCV000426888|RCV000474570; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033752103375GA16:g.2103375G>AClinGen:CA017702,Tuberous sclerosis database (TSC2):TSC2_01992CN169374 not specified;
NM_000548.5(TSC2):c.258G>C (p.Ala86=)7249TSC2Conflicting interpretations of pathogenicityrs397514912RCV000375405|RCV000870004|RCV001016034; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621033752103375GCNC_000016.9:g.2103375G>CClinGen:CA10648011C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.261T>C (p.Asp87=)7249TSC2Likely benignrs1555496967RCV000644341; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033782103378TC16:g.2103378T>CClinGen:CA492955199C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.261T>A (p.Asp87Glu)7249TSC2Uncertain significancers1555496967RCV001068441; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033782103378TA16:g.2103378T>A-
NM_000548.5(TSC2):c.262C>T (p.Leu88=)7249TSC2Benign/Likely benignrs45485999RCV000042475|RCV000125704|RCV000229062|RCV000567644|RCV001811307; NMedGen: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:CN5172021621033792103379CT16:g.2103379C>TClinGen:CA017731,Tuberous sclerosis database (TSC2):TSC2_00298C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.264G>A (p.Leu88=)7249TSC2Conflicting interpretations of pathogenicityrs1466279830RCV000940368|RCV001569812; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033812103381GA16:g.2103381G>A-
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter)7249TSC2Pathogenicrs45517099RCV000043003|RCV000381969|RCV000491603|RCV000707342; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033852103385CTNC_000016.9:g.2103385C>TClinGen:CA017893,Tuberous sclerosis database (TSC2):TSC2_00036
NM_000548.5(TSC2):c.270G>A (p.Gln90=)7249TSC2Benign/Likely benignrs779310889RCV000538146|RCV001016247|RCV001120818|RCV001545071; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621033872103387GANC_000016.9:g.2103387G>AClinGen:CA040998C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.271C>A (p.Pro91Thr)7249TSC2Uncertain significancers1555496979RCV000547536; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033882103388CANC_000016.9:g.2103388C>AClinGen:CA394305662C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.271C>T (p.Pro91Ser)7249TSC2Uncertain significancers1555496979RCV000644211; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033882103388CTNC_000016.9:g.2103388C>TClinGen:CA394305664C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu)7249TSC2Benignrs45482691RCV000042484|RCV000122218|RCV000163281|RCV000473293|RCV001529022; NMedGen: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:CN5172021621033892103389CT16:g.2103389C>TClinGen:CA017971,Tuberous sclerosis database (TSC2):TSC2_00346C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.273G>A (p.Pro91=)7249TSC2Benign/Likely benignrs772296140RCV000469924|RCV000840690|RCV001016455; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621033902103390GANC_000016.9:g.2103390G>AClinGen:CA041112C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.273G>T (p.Pro91=)7249TSC2Likely benign-1RCV002185365; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033902103390GT2103390-
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)7249TSC2Benign/Likely benignrs137853994RCV000043383|RCV000122217|RCV000130758|RCV000989412|RCV001703939; NMedGen: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:CN5172021621033922103392AT16:g.2103392A>TClinGen:CA018098,Tuberous sclerosis database (TSC2):TSC2_00963C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.276G>A (p.Glu92=)7249TSC2Likely benign-1RCV001431981; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033932103393GA2103393-
NM_000548.5(TSC2):c.277C>T (p.Arg93Trp)7249TSC2Uncertain significancers760688660RCV000557507; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033942103394CTNC_000016.9:g.2103394C>TClinGen:CA041936C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)7249TSC2Uncertain significancers1222477746RCV000546307|RCV000575589; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621033952103395GA16:g.2103395G>AClinGen:CA394305714C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.281C>T (p.Pro94Leu)7249TSC2Conflicting interpretations of pathogenicityrs200045926RCV000471856|RCV001797088; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621033982103398CTNC_000016.9:g.2103398C>TClinGen:CA042049C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.282G>A (p.Pro94=)7249TSC2Benign/Likely benignrs145624233RCV000225943|RCV000433616|RCV001016711; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621033992103399GA16:g.2103399G>AClinGen:CA042087CN169374 not specified;
NM_000548.5(TSC2):c.282G>T (p.Pro94=)7249TSC2Likely benign-1RCV002203874; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621033992103399GT2103399-
NM_000548.5(TSC2):c.284T>G (p.Leu95Arg)7249TSC2Uncertain significancers2085369170RCV001299057; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034012103401TG2103401-
NM_000548.5(TSC2):c.284T>C (p.Leu95Pro)7249TSC2Uncertain significance-1RCV002048909; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034012103401TC2103401-
NM_000548.5(TSC2):c.286G>A (p.Glu96Lys)7249TSC2Uncertain significance-1RCV001366693; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034032103403GA2103403-
NM_000548.5(TSC2):c.287A>G (p.Glu96Gly)7249TSC2Uncertain significance-1RCV002039815; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034042103404AG2103404-
NM_000548.5(TSC2):c.289G>C (p.Ala97Pro)7249TSC2Uncertain significancers1446873736RCV000800654; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034062103406GC16:g.2103406G>C-
NM_000548.5(TSC2):c.289G>A (p.Ala97Thr)7249TSC2Uncertain significancers1446873736RCV001324139; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034062103406GA2103406-
NM_000548.5(TSC2):c.291C>G (p.Ala97=)7249TSC2Benign/Likely benignrs137933794RCV000252756|RCV000229470|RCV000565061|RCV000378878; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:8051621034082103408CGNC_000016.9:g.2103408C>GClinGen:CA042768C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)7249TSC2Conflicting interpretations of pathogenicityrs372321790RCV000055443|RCV000573567|RCV000989413|RCV001555447; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621034092103409CT16:g.2103409C>TClinGen:CA018319,Tuberous sclerosis database (TSC2):TSC2_01996C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.292C>A (p.Arg98=)7249TSC2Benign/Likely benignrs372321790RCV000477405|RCV000561644; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621034092103409CANC_000016.9:g.2103409C>AClinGen:CA16614608C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln)7249TSC2Uncertain significancers1478204355RCV000796897|RCV001840733; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621034102103410GA16:g.2103410G>A-
NM_000548.5(TSC2):c.293G>C (p.Arg98Pro)7249TSC2Uncertain significance-1RCV001988255; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034102103410GC2103410-
NM_000548.5(TSC2):c.294G>C (p.Arg98=)7249TSC2Likely benign-1RCV002182060; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034112103411GC2103411-
NM_000548.5(TSC2):c.297C>T (p.His99=)7249TSC2Benign/Likely benignrs752498350RCV000529244|RCV001017755|RCV001120819|RCV001171692; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621034142103414CTNC_000016.9:g.2103414C>TClinGen:CA043607C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.298G>A (p.Ala100Thr)7249TSC2Uncertain significancers369314296RCV001222030; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034152103415GA16:g.2103415G>A-
NM_000548.5(TSC2):c.299C>T (p.Ala100Val)7249TSC2Conflicting interpretations of pathogenicityrs375824753RCV000575476|RCV000594514|RCV000761927|RCV001086235; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034162103416CTNC_000016.9:g.2103416C>TClinGen:CA043693C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.300G>A (p.Ala100=)7249TSC2Conflicting interpretations of pathogenicityrs45517100RCV000043438|RCV000163268|RCV000251650|RCV000724097|RCV001082842; NMedGen: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:8051621034172103417GA16:g.2103417G>AClinGen:CA018399,Tuberous sclerosis database (TSC2):TSC2_00038C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.300G>T (p.Ala100=)7249TSC2Likely benign-1RCV002165501; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034172103417GT2103417-
NM_000548.5(TSC2):c.301G>A (p.Val101Met)7249TSC2Uncertain significancers878854089RCV000227019|RCV000569350; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621034182103418GANC_000016.9:g.2103418G>AClinGen:CA10583279C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.301G>T (p.Val101Leu)7249TSC2Uncertain significancers878854089RCV000822093; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034182103418GT16:g.2103418G>T-
NM_000548.5(TSC2):c.302T>C (p.Val101Ala)7249TSC2Uncertain significancers2085372909RCV001314345; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034192103419TC2103419-
NM_000548.5(TSC2):c.307G>A (p.Ala103Thr)7249TSC2Uncertain significance-1RCV001926996; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034242103424GA2103424-
NM_000548.5(TSC2):c.308C>T (p.Ala103Val)7249TSC2Uncertain significancers1555497043RCV000536490; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034252103425CTNC_000016.9:g.2103425C>TClinGen:CA394305903C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.308C>G (p.Ala103Gly)7249TSC2Uncertain significance-1RCV001883905; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034252103425CG2103425-
NM_000548.5(TSC2):c.310C>G (p.Leu104Val)7249TSC2Uncertain significancers1596259554RCV000820374; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034272103427CG16:g.2103427C>G-
NM_000548.5(TSC2):c.310C>T (p.Leu104=)7249TSC2Likely benign-1RCV001438589; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034272103427CT2103427-
NM_000548.5(TSC2):c.311T>C (p.Leu104Pro)7249TSC2Likely pathogenicrs2085373985RCV001065161; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034282103428TC16:g.2103428T>C-
NM_000548.5(TSC2):c.317A>C (p.Lys106Thr)7249TSC2Uncertain significancers1567395686RCV000699028; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034342103434ACNC_000016.9:g.2103434A>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.317A>G (p.Lys106Arg)7249TSC2Uncertain significance-1RCV001978573; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034342103434AG2103434-
NM_000548.5(TSC2):c.318G>A (p.Lys106=)7249TSC2Uncertain significancers756890243RCV001327449; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034352103435GA2103435-
NM_000548.5(TSC2):c.320C>A (p.Ala107Asp)7249TSC2Uncertain significancers2085374926RCV001223559; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034372103437CA16:g.2103437C>A-
NM_000548.5(TSC2):c.320C>T (p.Ala107Val)7249TSC2Uncertain significance-1RCV001918143; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034372103437CT2103437-
NM_000548.5(TSC2):c.322dup (p.Ile108fs)7249TSC2Pathogenicrs2085375504RCV001061746; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034382103439CCA16:g.2103438_2103439insA-
NM_000548.5(TSC2):c.321C>T (p.Ala107=)7249TSC2Likely benign-1RCV001450560; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034382103438CT2103438-
NM_000548.5(TSC2):c.322A>G (p.Ile108Val)7249TSC2Uncertain significancers955754399RCV000538970; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034392103439AGNC_000016.9:g.2103439A>GClinGen:CA276771132C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.323T>C (p.Ile108Thr)7249TSC2Uncertain significancers1233900284RCV001222001; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034402103440TC16:g.2103440T>C-
NM_000548.5(TSC2):c.324C>T (p.Ile108=)7249TSC2Benign/Likely benignrs973500815RCV000841200|RCV001081831; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034412103441CTNC_000016.9:g.2103441C>TClinGen:CA16614687C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.325G>A (p.Val109Met)7249TSC2Conflicting interpretations of pathogenicityrs369932305RCV000189956|RCV000233520; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034422103442GANC_000016.9:g.2103442G>AClinGen:CA045030CN169374 not specified;
NM_000548.5(TSC2):c.327G>A (p.Val109=)7249TSC2Benign/Likely benignrs754348511RCV000472726|RCV000573177|RCV001584181; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621034442103444GANC_000016.9:g.2103444G>AClinGen:CA045117C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.329A>G (p.Gln110Arg)7249TSC2Uncertain significancers2085376654RCV001221880; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034462103446AG16:g.2103446A>G-
NM_000548.5(TSC2):c.329A>C (p.Gln110Pro)7249TSC2Uncertain significance-1RCV002047336; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034462103446AC2103446-
NM_000548.5(TSC2):c.330G>A (p.Gln110=)7249TSC2Likely benign-1RCV001441836; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034472103447GA2103447-
NM_000548.5(TSC2):c.335_336+14del7249TSC2Likely pathogenicrs1596259720RCV000813207; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034482103463GGGGCAGGTAAGGCCCAG16:g.2103448_2103463del-
NM_000548.5(TSC2):c.331G>T (p.Gly111Trp)7249TSC2Uncertain significancers1266039524RCV001019984|RCV001242066; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034482103448GT16:g.2103448G>T-
NM_000548.5(TSC2):c.333G>C (p.Gly111=)7249TSC2Likely benignrs1198874350RCV000551772; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034502103450GCNC_000016.9:g.2103450G>CClinGen:CA492955282C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.333G>A (p.Gly111=)7249TSC2Likely benign-1RCV002148481; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034502103450GA2103450-
NM_000548.5(TSC2):c.334C>G (p.Gln112Glu)7249TSC2Uncertain significancers397515308RCV001020055|RCV001040529; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034512103451CG16:g.2103451C>G-
NM_000548.5(TSC2):c.336+1G>A7249TSC2Pathogenicrs45517102RCV000043330|RCV000476030; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034542103454GA16:g.2103454G>AClinGen:CA018966,Tuberous sclerosis database (TSC2):TSC2_00040C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.336+1G>C7249TSC2Pathogenicrs45517102RCV000644166; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034542103454GCNC_000016.9:g.2103454G>CClinGen:CA394306095C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.336+5G>C7249TSC2Pathogenic/Likely pathogenicrs1057523242RCV000817980|RCV001698247; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621034582103458GCNC_000016.9:g.2103458G>CClinGen:CA16607137CN169374 not specified;
NM_000548.5(TSC2):c.336+6G>A7249TSC2Uncertain significancers2085379244RCV001221391; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034592103459GA16:g.2103459G>A-
NM_000548.5(TSC2):c.336+7C>A7249TSC2Likely benignrs1199855368RCV000938633; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034602103460CA16:g.2103460C>A-
NM_000548.5(TSC2):c.336+8C>T7249TSC2Benign/Likely benignrs779174834RCV000435849|RCV000919718|RCV001797721; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034612103461CT16:g.2103461C>TClinGen:CA046185CN169374 not specified;
NM_000548.5(TSC2):c.336+10A>G7249TSC2Benignrs587778005RCV000119927|RCV000230864; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034632103463AG16:g.2103463A>GClinGen:CA018957CN169374 not specified;
NM_000548.5(TSC2):c.336+11G>T7249TSC2Likely benign-1RCV002218658; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034642103464GT2103464-
NM_000548.5(TSC2):c.336+14C>T7249TSC2Conflicting interpretations of pathogenicityrs570065416RCV000610912|RCV001797761|RCV001770540; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621034672103467CT16:g.2103467C>TClinGen:CA045804CN169374 not specified;
NM_000548.5(TSC2):c.336+15G>C7249TSC2Likely benign-1RCV002081553; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034682103468GC2103468-
NM_000548.5(TSC2):c.336+15G>A7249TSC2Likely benign-1RCV002186519; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034682103468GA2103468-
NM_000548.5(TSC2):c.336+17C>T7249TSC2Likely benign-1RCV002123764; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034702103470CT2103470-
NM_000548.5(TSC2):c.336+18G>A7249TSC2Likely benign-1RCV002192324; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034712103471GA2103471-
NM_000548.5(TSC2):c.336+18G>T7249TSC2Likely benign-1RCV002159452; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034712103471GT2103471-
NM_000548.5(TSC2):c.336+19C>A7249TSC2Likely benign-1RCV002174460; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621034722103472CA2103472-
NM_000548.5(TSC2):c.337-20C>G7249TSC2Likely benign-1RCV002123145; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042772104277CG2104277-
NM_000548.5(TSC2):c.337-18T>C7249TSC2Likely benign-1RCV002101012; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042792104279TC2104279-
NM_000548.5(TSC2):c.337-17G>A7249TSC2Likely benign-1RCV002156240; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042802104280GA2104280-
NM_000548.5(TSC2):c.337-16_337-15delinsCC7249TSC2Likely benign-1RCV002117285; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042812104282TGCC2104281-
NM_000548.5(TSC2):c.337-15G>C7249TSC2Likely benign-1RCV002124096; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042822104282GC2104282-
NM_000548.5(TSC2):c.337-12T>A7249TSC2Likely benign-1RCV002101968; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042852104285TA2104285-
NM_000548.5(TSC2):c.337-6C>G7249TSC2Likely benignrs760230326RCV000954019|RCV001433175; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042912104291CG16:g.2104291C>G-
NM_000548.5(TSC2):c.337-3T>C7249TSC2Conflicting interpretations of pathogenicityrs770515822RCV000525098|RCV001020124; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621042942104294TCNC_000016.9:g.2104294T>CClinGen:CA276771490C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.337-1G>A7249TSC2Pathogenicrs45517105RCV000055243|RCV000553650|RCV000518372; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621042962104296GA16:g.2104296G>AClinGen:CA019014,Tuberous sclerosis database (TSC2):TSC2_02412CN517202 not provided;
NM_000548.5(TSC2):c.339C>T (p.Gly113=)7249TSC2Benign/Likely benignrs368451664RCV000189957|RCV000644068; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042992104299CT16:g.2104299C>TClinGen:CA046718CN169374 not specified;
NM_000548.5(TSC2):c.339C>A (p.Gly113=)7249TSC2Likely benign-1RCV002206932; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621042992104299CA2104299-
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys)7249TSC2Conflicting interpretations of pathogenicityrs397515021RCV000055573|RCV001020231|RCV000227736; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043002104300GA16:g.2104300G>AClinGen:CA019111,Tuberous sclerosis database (TSC2):TSC2_02051C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.342G>C (p.Glu114Asp)7249TSC2Uncertain significancers1555497542RCV000560861; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043022104302GCNC_000016.9:g.2104302G>CClinGen:CA394306402C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.343C>T (p.Arg115Cys)7249TSC2Uncertain significancers1256047792RCV000802000; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043032104303CT16:g.2104303C>T-
NM_000548.5(TSC2):c.344G>A (p.Arg115His)7249TSC2Conflicting interpretations of pathogenicityrs764529584RCV000544848|RCV001020329; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621043042104304GANC_000016.9:g.2104304G>AClinGen:CA046888C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.344G>C (p.Arg115Pro)7249TSC2Uncertain significancers764529584RCV001020330|RCV001860982; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043042104304GC16:g.2104304G>C-
NM_000548.5(TSC2):c.344G>T (p.Arg115Leu)7249TSC2Uncertain significancers764529584RCV001020331|RCV001323822; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043042104304GT16:g.2104304G>T-
NM_000548.5(TSC2):c.347del (p.Leu116fs)7249TSC2Pathogenicrs1567398983RCV000702867; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043052104305GTG16:g.2104305_2104305del-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.346T>C (p.Leu116=)7249TSC2Likely benignrs751923657RCV000557250; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043062104306TC16:g.2104306T>CClinGen:CA046984C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352dup (p.Val118fs)7249TSC2Pathogenicrs137853982RCV000042521|RCV000190065|RCV001852879; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043072104308TTG16:g.2104307_2104308insGClinGen:CA019247,Tuberous sclerosis database (TSC2):TSC2_00965CN517202 not provided;
NM_000548.5(TSC2):c.352del (p.Val118fs)7249TSC2Pathogenic-1RCV002035369; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043082104308TGT2104307-
NM_000548.5(TSC2):c.348G>A (p.Leu116=)7249TSC2Likely benign-1RCV002212845; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043082104308GA2104308-
NM_000548.5(TSC2):c.351G>A (p.Gly117=)7249TSC2Likely benignrs1555497554RCV000644321; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043112104311GANC_000016.9:g.2104311G>AClinGen:CA492955345C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352G>T (p.Val118Phe)7249TSC2Uncertain significancers878854094RCV000231912|RCV001020537; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621043122104312GTNC_000016.9:g.2104312G>TClinGen:CA10583280C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.352G>A (p.Val118Ile)7249TSC2Uncertain significancers878854094RCV000694884; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043122104312GA16:g.2104312G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.354C>G (p.Val118=)7249TSC2Conflicting interpretations of pathogenicityrs762228318RCV000338308|RCV001020576|RCV001089150; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043142104314CG16:g.2104314C>GClinGen:CA047411CN169374 not specified;
NM_000548.5(TSC2):c.354C>T (p.Val118=)7249TSC2Likely benignrs762228318RCV000907549|RCV001487569; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043142104314CT16:g.2104314C>T-
NM_000548.5(TSC2):c.355C>T (p.Leu119Phe)7249TSC2Uncertain significancers1596264734RCV001020610|RCV001235216|RCV001766849; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621043152104315CT16:g.2104315C>T-
NM_000548.5(TSC2):c.356T>G (p.Leu119Arg)7249TSC2Uncertain significancers1477548902RCV000528192; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043162104316TG16:g.2104316T>GClinGen:CA394306574C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.357C>G (p.Leu119=)7249TSC2Benign/Likely benignrs1168763677RCV000569747|RCV000934760; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043172104317CG16:g.2104317C>GClinGen:CA492955352C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.357C>T (p.Leu119=)7249TSC2Likely benignrs1168763677RCV000937615|RCV001431019; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043172104317CT16:g.2104317C>T-
NM_000548.5(TSC2):c.372_373insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCT7249TSC2Pathogenic-1RCV001905607; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043172104318CCAGAGCCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGC2104317-
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter)7249TSC2Pathogenicrs1131691602RCV000494472|RCV000689112; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043182104318ATNC_000016.9:g.2104318A>TClinGen:CA394306592
NM_000548.5(TSC2):c.359G>A (p.Arg120Lys)7249TSC2Uncertain significance-1RCV002000998; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043192104319GA2104319-
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly)7249TSC2Conflicting interpretations of pathogenicityrs767755750RCV000546990|RCV000575342; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621043222104322CGNC_000016.9:g.2104322C>GClinGen:CA047888C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.364del (p.Leu122fs)7249TSC2Pathogenicrs2085499583RCV001194683; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043222104322GCG16:g.2104322_2104322del-
NM_000548.5(TSC2):c.362C>T (p.Ala121Val)7249TSC2Uncertain significancers767755750RCV001315794; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043222104322CT2104322-
NM_000548.5(TSC2):c.363C>T (p.Ala121=)7249TSC2Benign/Likely benignrs45517106RCV000042790|RCV000163844|RCV000472305|RCV001531836; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621043232104323CT16:g.2104323C>TClinGen:CA019425,Tuberous sclerosis database (TSC2):TSC2_00351C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.364C>T (p.Leu122Phe)7249TSC2Uncertain significancers1175373447RCV000821089; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043242104324CT16:g.2104324C>T-
NM_000548.5(TSC2):c.366CTT[1] (p.Phe124del)7249TSC2Uncertain significancers1342475885RCV000644181; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043252104327CTCTC16:g.2104325_2104327delClinGen:CA620373021C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.365T>A (p.Leu122His)7249TSC2Uncertain significancers756263581RCV000822531; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043252104325TA16:g.2104325T>A-
NM_000548.5(TSC2):c.366C>T (p.Leu122=)7249TSC2Benign/Likely benignrs1397677711RCV000571323|RCV000644413; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043262104326CT16:g.2104326C>TClinGen:CA492955358C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.369C>G (p.Phe123Leu)7249TSC2Uncertain significancers1567399252RCV000687993; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043292104329CGNC_000016.9:g.2104329C>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.369C>T (p.Phe123=)7249TSC2Likely benign-1RCV002125987; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043292104329CT2104329-
NM_000548.5(TSC2):c.370T>C (p.Phe124Leu)7249TSC2Uncertain significancers547231441RCV000802848|RCV001020948; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621043302104330TC16:g.2104330T>C-
NM_000548.5(TSC2):c.372T>C (p.Phe124=)7249TSC2Likely benignrs753922923RCV000909147; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043322104332TC16:g.2104332T>C-
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg)7249TSC2Conflicting interpretations of pathogenicityrs767059758RCV000550667|RCV001021036|RCV001115885|RCV001591241; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621043342104334AGNC_000016.9:g.2104334A>GClinGen:CA048294C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.375G>C (p.Lys125Asn)7249TSC2Uncertain significancers778928295RCV000561673|RCV001295259; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043352104335GC16:g.2104335G>CClinGen:CA048320C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.375G>A (p.Lys125=)7249TSC2Uncertain significancers778928295RCV000699522; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043352104335GANC_000016.9:g.2104335G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.376G>T (p.Val126Phe)7249TSC2Uncertain significancers1458070269RCV001242234; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043362104336GT16:g.2104336G>T-
NM_000548.5(TSC2):c.376G>A (p.Val126Ile)7249TSC2Uncertain significancers1458070269RCV001322237; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043362104336GA2104336-
NM_000548.5(TSC2):c.377T>C (p.Val126Ala)7249TSC2Uncertain significancers2085502098RCV001046520; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043372104337TC16:g.2104337T>C-
NM_000548.5(TSC2):c.378C>G (p.Val126=)7249TSC2Likely benign-1RCV001458530; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043382104338CG2104338-
NM_000548.5(TSC2):c.379A>G (p.Ile127Val)7249TSC2Uncertain significancers1207714822RCV001216204|RCV001732074; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621043392104339AG16:g.2104339A>G-
NM_000548.5(TSC2):c.381C>G (p.Ile127Met)7249TSC2Uncertain significance-1RCV001765728|RCV001882892; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043412104341CG2104341-
NM_000548.5(TSC2):c.384G>T (p.Lys128Asn)7249TSC2Uncertain significancers748095129RCV000701802; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043442104344GT16:g.2104344G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.384G>A (p.Lys128=)7249TSC2Likely benignrs748095129RCV000943640|RCV001416224; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043442104344GA16:g.2104344G>A-
NM_000548.5(TSC2):c.385G>T (p.Asp129Tyr)7249TSC2Uncertain significancers771961048RCV000644250; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043452104345GTNC_000016.9:g.2104345G>TClinGen:CA048912C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.386A>T (p.Asp129Val)7249TSC2Uncertain significancers1555497612RCV000644235; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043462104346AT16:g.2104346A>TClinGen:CA394306880C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.387T>A (p.Asp129Glu)7249TSC2Uncertain significance-1RCV001955733; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043472104347TA2104347-
NM_000548.5(TSC2):c.390C>T (p.Tyr130=)7249TSC2Likely benign-1RCV002213999; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043502104350CT2104350-
NM_000548.5(TSC2):c.391C>A (p.Pro131Thr)7249TSC2Uncertain significancers777398393RCV000232197; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043512104351CANC_000016.9:g.2104351C>AClinGen:CA10583281C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala)7249TSC2Uncertain significancers777398393RCV001236083; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043512104351CG16:g.2104351C>G-
NM_000548.5(TSC2):c.391C>T (p.Pro131Ser)7249TSC2Uncertain significance-1RCV001924768; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043512104351CT2104351-
NM_000548.5(TSC2):c.392C>T (p.Pro131Leu)7249TSC2Uncertain significancers1487984678RCV000811943; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043522104352CT16:g.2104352C>T-
NM_000548.5(TSC2):c.392C>G (p.Pro131Arg)7249TSC2Uncertain significancers1487984678RCV001217704; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043522104352CG16:g.2104352C>G-
NM_000548.5(TSC2):c.393T>C (p.Pro131=)7249TSC2Likely benign-1RCV001461442; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043532104353TC2104353-
NM_000548.5(TSC2):c.394T>C (p.Ser132Pro)7249TSC2Uncertain significancers1191673224RCV000702015; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043542104354TC16:g.2104354T>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys)7249TSC2Benign/Likely benignrs137854391RCV000043300|RCV000464621|RCV000421754; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621043552104355CG16:g.2104355C>GClinGen:CA019748,Tuberous sclerosis database (TSC2):TSC2_01086CN169374 not specified;
NM_000548.5(TSC2):c.396C>T (p.Ser132=)7249TSC2Likely benignrs1060504083RCV000460866|RCV001426447; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043562104356CTNC_000016.9:g.2104356C>TClinGen:CA16614610C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.398A>C (p.Asn133Thr)7249TSC2Uncertain significancers1265446222RCV001219580; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043582104358AC16:g.2104358A>C-
NM_000548.5(TSC2):c.399C>T (p.Asn133=)7249TSC2Benignrs746704620RCV000644307; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043592104359CTNC_000016.9:g.2104359C>TClinGen:CA049898C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.399C>A (p.Asn133Lys)7249TSC2Uncertain significancers746704620RCV001048312; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043592104359CA16:g.2104359C>A-
NM_000548.5(TSC2):c.400G>A (p.Glu134Lys)7249TSC2Uncertain significancers1555497641RCV000555560|RCV001021650; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621043602104360GANC_000016.9:g.2104360G>AClinGen:CA394306969C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)7249TSC2Pathogenicrs1555497641RCV000989414; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043602104360GT16:g.2104360G>T-
NM_000548.5(TSC2):c.401A>G (p.Glu134Gly)7249TSC2Uncertain significance-1RCV002002721; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043612104361AG2104361-
NM_000548.5(TSC2):c.403G>A (p.Asp135Asn)7249TSC2Uncertain significance-1RCV001876653; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043632104363GA2104363-
NM_000548.5(TSC2):c.404A>G (p.Asp135Gly)7249TSC2Uncertain significancers2085506301RCV001295193; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043642104364AG2104364-
NM_000548.5(TSC2):c.405C>T (p.Asp135=)7249TSC2Likely benignrs1005115266RCV000976912|RCV001412710; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043652104365CT16:g.2104365C>T-
NM_000548.5(TSC2):c.406C>T (p.Leu136Phe)7249TSC2Uncertain significancers1350803240RCV000793084; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043662104366CT16:g.2104366C>T-
NM_000548.5(TSC2):c.408T>G (p.Leu136=)7249TSC2Benign/Likely benignrs1037058497RCV000546001|RCV000612123; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621043682104368TG16:g.2104368T>GClinGen:CA276771525CN169374 not specified;
NM_000548.5(TSC2):c.409C>T (p.His137Tyr)7249TSC2Uncertain significancers1596265133RCV000813997; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043692104369CT16:g.2104369C>T-
NM_000548.5(TSC2):c.410A>G (p.His137Arg)7249TSC2Uncertain significancers45517107RCV000042542|RCV001321102; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043702104370AG16:g.2104370A>GTuberous sclerosis database (TSC2):TSC2_00069,ClinGen:CA019961,UniProtKB:P49815#VAR_009415C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.411C>T (p.His137=)7249TSC2Benign/Likely benignrs776129896RCV000534425|RCV000572402|RCV001821553; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693741621043712104371CT16:g.2104371C>TClinGen:CA050522C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.411C>G (p.His137Gln)7249TSC2Uncertain significance-1RCV002024189; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043712104371CG2104371-
NM_000548.5(TSC2):c.412G>A (p.Glu138Lys)7249TSC2Uncertain significancers1173061992RCV000802752|RCV001805870; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621043722104372GA16:g.2104372G>A-
NM_000548.5(TSC2):c.416G>A (p.Arg139Lys)7249TSC2Uncertain significancers2085508015RCV001225356; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043762104376GA16:g.2104376G>A-
NM_000548.5(TSC2):c.418C>T (p.Leu140=)7249TSC2Conflicting interpretations of pathogenicityrs1555497657RCV000572774|RCV000693802; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043782104378CT16:g.2104378C>TClinGen:CA492955495C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.420G>A (p.Leu140=)7249TSC2Benign/Likely benignrs876660078RCV000221035|RCV001400333; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043802104380GA16:g.2104380G>AClinGen:CA10579871C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter)7249TSC2Pathogenicrs1060500924RCV000458135; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043812104381GTNC_000016.9:g.2104381G>TClinGen:CA16614902C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.422A>G (p.Glu141Gly)7249TSC2Uncertain significance-1RCV001954223; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043822104382AG2104382-
NM_000548.5(TSC2):c.423_424delinsAA (p.Val142Ile)7249TSC2Uncertain significancers2085508858RCV001226962; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043832104384GGAANC_000016.9:g.2104383_2104384delinsAA-
NM_000548.5(TSC2):c.424G>C (p.Val142Leu)7249TSC2Uncertain significance-1RCV001876337; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043842104384GC2104384-
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)7249TSC2Conflicting interpretations of pathogenicityrs137854406RCV000043165|RCV000431983|RCV000476314; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043892104389CG16:g.2104389C>GClinGen:CA020223,Tuberous sclerosis database (TSC2):TSC2_01089CN169374 not specified;
NM_000548.5(TSC2):c.429C>T (p.Phe143=)7249TSC2Likely benignrs137854406RCV000419615|RCV002063402; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043892104389CT16:g.2104389C>TClinGen:CA050814CN169374 not specified;
NM_000548.5(TSC2):c.431A>G (p.Lys144Arg)7249TSC2Benign/Likely benignrs769286175RCV000189958|RCV000229518; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043912104391AGNC_000016.9:g.2104391A>GClinGen:CA050850CN169374 not specified;
NM_000548.5(TSC2):c.432G>C (p.Lys144Asn)7249TSC2Uncertain significancers2085509615RCV001338814; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043922104392GC2104392-
NM_000548.5(TSC2):c.432G>A (p.Lys144=)7249TSC2Likely benign-1RCV002147736; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043922104392GA2104392-
NM_000548.5(TSC2):c.433G>A (p.Ala145Thr)7249TSC2Benign/Likely benignrs774892845RCV000565404|RCV000601232|RCV000644327; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043932104393GA16:g.2104393G>AClinGen:CA050881C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.434C>T (p.Ala145Val)7249TSC2Uncertain significancers1596265255RCV001022336|RCV001348361; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043942104394CT16:g.2104394C>T-
NM_000548.5(TSC2):c.434C>G (p.Ala145Gly)7249TSC2Uncertain significance-1RCV001905314; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043942104394CG2104394-
NM_000548.5(TSC2):c.435C>T (p.Ala145=)7249TSC2Likely benign-1RCV002126837; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043952104395CT2104395-
NM_000548.5(TSC2):c.436C>G (p.Leu146Val)7249TSC2Uncertain significancers997604465RCV001315553; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043962104396CG2104396-
NM_000548.5(TSC2):c.436C>T (p.Leu146Phe)7249TSC2Uncertain significance-1RCV001881684; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043962104396CT2104396-
NM_000548.5(TSC2):c.440_441del (p.Thr147fs)7249TSC2Pathogenicrs137854292RCV000043153|RCV001253193; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043982104399TCAT16:g.2104398_2104399delClinGen:CA020391,Tuberous sclerosis database (TSC2):TSC2_00296C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.438C>T (p.Leu146=)7249TSC2Likely benign-1RCV001416418; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043982104398CT2104398-
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala)7249TSC2Uncertain significancers1596265301RCV000822948; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621043992104399AG16:g.2104399A>G-
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys)7249TSC2Likely pathogenicrs1555497690RCV000644114; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044002104400CANC_000016.9:g.2104400C>AClinGen:CA394308347C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.440C>T (p.Thr147Ile)7249TSC2Uncertain significancers1555497690RCV001300691; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044002104400CT2104400-
NM_000548.5(TSC2):c.442G>C (p.Asp148His)7249TSC2Uncertain significance-1RCV002035799; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044022104402GC2104402-
NM_000548.5(TSC2):c.444C>T (p.Asp148=)7249TSC2Benign/Likely benignrs767968378RCV001022503|RCV001394584; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044042104404CT16:g.2104404C>T-
NM_000548.5(TSC2):c.445A>G (p.Asn149Asp)7249TSC2Uncertain significancers878854107RCV000232638; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044052104405AGNC_000016.9:g.2104405A>GClinGen:CA10583282C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.446A>G (p.Asn149Ser)7249TSC2Uncertain significancers1029118280RCV000573948|RCV000644253|RCV001545040; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621044062104406AG16:g.2104406A>GClinGen:CA276771541C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.447T>C (p.Asn149=)7249TSC2Likely benign-1RCV001471643; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044072104407TC2104407-
NM_000548.5(TSC2):c.450G>A (p.Gly150=)7249TSC2Benign/Likely benignrs372000734RCV000473158|RCV000562794|RCV001704389; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621044102104410GA16:g.2104410G>AClinGen:CA051466C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.453A>G (p.Arg151=)7249TSC2Likely benign-1RCV001448968; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044132104413AG2104413-
NM_000548.5(TSC2):c.453A>T (p.Arg151Ser)7249TSC2Uncertain significance-1RCV002048653; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044132104413AT2104413-
NM_000548.5(TSC2):c.454C>G (p.His152Asp)7249TSC2Conflicting interpretations of pathogenicityrs397515285RCV000055607|RCV000575914|RCV001557660|RCV000465969; NMONDO: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:8051621044142104414CG16:g.2104414C>GClinGen:CA020642,Tuberous sclerosis database (TSC2):TSC2_02104C1510586 Autism spectrum disorder;
NM_000548.5(TSC2):c.456C>T (p.His152=)7249TSC2Benign/Likely benignrs1596265401RCV000873026|RCV001022713; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621044162104416CT16:g.2104416C>T-
NM_000548.5(TSC2):c.457A>G (p.Ile153Val)7249TSC2Uncertain significancers1555497700RCV000566766|RCV001215453; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044172104417AGNC_000016.9:g.2104417A>GClinGen:CA394308459C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.461C>T (p.Thr154Ile)7249TSC2Uncertain significancers1215092245RCV000644109; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044212104421CTNC_000016.9:g.2104421C>TClinGen:CA394308479C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.464_466del (p.Tyr155del)7249TSC2Uncertain significancers2085513777RCV001051707; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044222104424CCTAC16:g.2104422_2104424del-
NM_000548.5(TSC2):c.462C>T (p.Thr154=)7249TSC2Likely benign-1RCV002128871; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044222104422CT2104422-
NM_000548.5(TSC2):c.464A>G (p.Tyr155Cys)7249TSC2Conflicting interpretations of pathogenicityrs755177576RCV000644170|RCV001022839; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621044242104424AGNC_000016.9:g.2104424A>GClinGen:CA052014C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.465C>T (p.Tyr155=)7249TSC2Benign/Likely benignrs45444196RCV000055368|RCV000189959|RCV000569174|RCV000477063; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044252104425CT16:g.2104425C>TClinGen:CA020832,Tuberous sclerosis database (TSC2):TSC2_02122C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.468G>A (p.Leu156=)7249TSC2Uncertain significancers2085514413RCV001048281; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044282104428GA16:g.2104428G>A-
NM_000548.5(TSC2):c.470A>G (p.Glu157Gly)7249TSC2Uncertain significance-1RCV002033512; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044302104430AG2104430-
NM_000548.5(TSC2):c.471G>A (p.Glu157=)7249TSC2Likely benign-1RCV001506082; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044312104431GA2104431-
NM_000548.5(TSC2):c.472G>A (p.Glu158Lys)7249TSC2Uncertain significancers1596265482RCV000824576; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044322104432GA16:g.2104432G>A-
NM_000548.5(TSC2):c.473A>G (p.Glu158Gly)7249TSC2Uncertain significancers2085515389RCV001224960; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044332104433AG16:g.2104433A>G-
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter)7249TSC2Pathogenicrs1555497714RCV000644141; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044352104435GT16:g.2104435G>TClinGen:CA394308572C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.476A>T (p.Glu159Val)7249TSC2Uncertain significancers1555497716RCV000644265; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044362104436ATNC_000016.9:g.2104436A>TClinGen:CA394308577C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.479T>A (p.Leu160Gln)7249TSC2Uncertain significancers1555497725RCV000534568; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044392104439TA16:g.2104439T>AClinGen:CA394308591C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.479T>G (p.Leu160Arg)7249TSC2Uncertain significance-1RCV001962790; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044392104439TG2104439-
NM_000548.5(TSC2):c.481G>A (p.Ala161Thr)7249TSC2Uncertain significance-1RCV002012518; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044412104441GA2104441-
NM_000548.5(TSC2):c.481+1G>A7249TSC2Pathogenic-1RCV001391263|RCV001871999; NHuman Phenotype Ontology:HP:0009717,MedGen:C1968959; Human Phenotype Ontology:HP:0032046,MedGen:C2938983|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044422104442GA2104442-
NM_000548.5(TSC2):c.481+5G>A7249TSC2Pathogenicrs137854135RCV000055192|RCV001039974; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044462104446GA16:g.2104446G>AClinGen:CA021022,Tuberous sclerosis database (TSC2):TSC2_01146C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.481+5G>C7249TSC2Uncertain significancers137854135RCV001027853; NMONDO: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:2689941621044462104446GC16:g.2104446G>C-
NM_000548.5(TSC2):c.481+7G>T7249TSC2Likely benign-1RCV001472634; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044482104448GT2104448-
NM_000548.5(TSC2):c.481+8C>T7249TSC2Benign/Likely benignrs758228838RCV000229808|RCV000609987; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621044492104449CTNC_000016.9:g.2104449C>TClinGen:CA052556CN169374 not specified;
NM_000548.5(TSC2):c.481+9C>T7249TSC2Benign/Likely benignrs201026150RCV000559493|RCV000607140; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621044502104450CTNC_000016.9:g.2104450C>TClinGen:CA276771565CN169374 not specified;
NM_000548.5(TSC2):c.481+10A>C7249TSC2Likely benignrs1196443311RCV000546935; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044512104451AC16:g.2104451A>CClinGen:CA658658347C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.481+10A>G7249TSC2Likely benignrs1196443311RCV000943780; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044512104451AG16:g.2104451A>G-
NM_000548.5(TSC2):c.481+11C>A7249TSC2Likely benign-1RCV002116745; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044522104452CA2104452-
NM_000548.5(TSC2):c.481+11C>T7249TSC2Likely benign-1RCV002177473; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044522104452CT2104452-
NM_000548.5(TSC2):c.481+12C>T7249TSC2Likely benignrs777645015RCV000600938|RCV002066761; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044532104453CT16:g.2104453C>TClinGen:CA052495CN169374 not specified;
NM_000548.5(TSC2):c.481+14T>G7249TSC2Likely benign-1RCV002152824; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621044552104455TG2104455-
NM_000548.5(TSC2):c.482-20_482-15del7249TSC2Likely benign-1RCV002087508; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053822105387ACTGCCGA2105381-
NM_000548.5(TSC2):c.482-20T>A7249TSC2Benign/Likely benignrs548831116RCV000607963|RCV001811116|RCV002066762; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053832105383TA16:g.2105383T>AClinGen:CA052584CN169374 not specified;
NC_000016.10:g.(?_2055382)_(2119398_?)del7249TSC2Pathogenic-1RCV000708429; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053832169399nana-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.482-20T>C7249TSC2Likely benign-1RCV002104428; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053832105383TC2105383-
NM_000548.5(TSC2):c.482-17C>T7249TSC2Likely benignrs201589515RCV000443105|RCV002065069; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053862105386CT16:g.2105386C>TClinGen:CA052574CN169374 not specified;
NM_000548.5(TSC2):c.482-16G>A7249TSC2Benign-1RCV002115783; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053872105387GA2105387-
NM_000548.5(TSC2):c.482-14C>A7249TSC2Uncertain significance-1RCV001904088; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053892105389CA2105389-
NM_000548.5(TSC2):c.482-14C>T7249TSC2Likely benign-1RCV002078763; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053892105389CT2105389-
NM_000548.5(TSC2):c.482-13G>A7249TSC2Likely benign-1RCV002103252; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053902105390GA2105390-
NM_000548.5(TSC2):c.482-13G>C7249TSC2Likely benign-1RCV002174511; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053902105390GC2105390-
NM_000548.5(TSC2):c.482-7C>G7249TSC2Uncertain significancers2085648892RCV001301633; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053962105396CG2105396-
NM_000548.5(TSC2):c.482-7C>A7249TSC2Uncertain significancers2085648892RCV001341307; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053962105396CA2105396-
NM_000548.5(TSC2):c.482-5C>T7249TSC2Likely benignrs397515071RCV000055307|RCV001481149; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053982105398CT16:g.2105398C>TClinGen:CA021060,Tuberous sclerosis database (TSC2):TSC2_01215C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.482-5C>G7249TSC2Uncertain significancers397515071RCV001294706; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053982105398CG2105398-
NM_000548.5(TSC2):c.482-4C>T7249TSC2Benign/Likely benignrs780938957RCV000945068|RCV001655648; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621053992105399CT16:g.2105399C>T-
NM_000548.5(TSC2):c.482-4_482-3delinsGT7249TSC2Uncertain significancers2085650597RCV001047639; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621053992105400CCGTNC_000016.9:g.2105399_2105400delinsGT-
NM_000548.5(TSC2):c.482C>T (p.Ala161Val)7249TSC2Uncertain significancers45481496RCV000042584|RCV000809485; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054032105403CTNC_000016.9:g.2105403C>TClinGen:CA021073,Tuberous sclerosis database (TSC2):TSC2_00894C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.482C>G (p.Ala161Gly)7249TSC2Uncertain significancers45481496RCV000804201; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054032105403CG16:g.2105403C>G-
NM_000548.5(TSC2):c.484G>A (p.Asp162Asn)7249TSC2Conflicting interpretations of pathogenicityrs1257721773RCV000644082|RCV001023148; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621054052105405GANC_000016.9:g.2105405G>AClinGen:CA394309028C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.486C>T (p.Asp162=)7249TSC2Benign/Likely benignrs45473598RCV000042588|RCV000231138|RCV000563906|RCV001547668|RCV001844021; NMedGen: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:CN1693741621054072105407CT16:g.2105407C>TClinGen:CA021156,Tuberous sclerosis database (TSC2):TSC2_00078C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.488_489del (p.Phe163fs)7249TSC2Pathogenicrs137854122RCV000043145|RCV000478381|RCV000818975; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054082105409CTTCNC_000016.9:g.2105409_2105410delClinGen:CA021186,Tuberous sclerosis database (TSC2):TSC2_00099
NM_000548.5(TSC2):c.488T>C (p.Phe163Ser)7249TSC2Uncertain significancers1596270677RCV000820781|RCV001585759; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621054092105409TC16:g.2105409T>C-
NM_000548.5(TSC2):c.492C>T (p.Val164=)7249TSC2Likely benignrs1424637610RCV000525738; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054132105413CT16:g.2105413C>TClinGen:CA492955723C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.493C>T (p.Leu165=)7249TSC2Conflicting interpretations of pathogenicityrs758521946RCV000179332|RCV000563723|RCV001084292; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054142105414CT16:g.2105414C>TClinGen:CA021361C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.495G>A (p.Leu165=)7249TSC2Likely benign-1RCV002132968; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054162105416GA2105416-
NM_000548.5(TSC2):c.499T>C (p.Trp167Arg)7249TSC2Uncertain significancers1555498118RCV000574722|RCV000644193; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054202105420TC16:g.2105420T>CClinGen:CA394309132C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter)7249TSC2Pathogenicrs1131691794RCV000493895|RCV001050966; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054212105421GANC_000016.9:g.2105421G>AClinGen:CA394309138
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys)7249TSC2Uncertain significancers755728007RCV000547492|RCV000765259; NMONDO: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:C1846381621054222105422GC16:g.2105422G>CClinGen:CA053524C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.502A>C (p.Met168Leu)7249TSC2Uncertain significancers779566253RCV001235749; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054232105423AC16:g.2105423A>C-
NM_000548.5(TSC2):c.502A>G (p.Met168Val)7249TSC2Uncertain significancers779566253RCV001352453; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054232105423AG2105423-
NM_000548.5(TSC2):c.503T>C (p.Met168Thr)7249TSC2Uncertain significancers1555498124RCV000540210; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054242105424TCNC_000016.9:g.2105424T>CClinGen:CA394309172C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.504G>T (p.Met168Ile)7249TSC2Uncertain significancers748692173RCV000701409; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054252105425GTNC_000016.9:g.2105425G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.505G>A (p.Asp169Asn)7249TSC2Uncertain significancers2085657148RCV001224818; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054262105426GA16:g.2105426G>A-
NM_000548.5(TSC2):c.508G>A (p.Val170Ile)7249TSC2Conflicting interpretations of pathogenicityrs1596270815RCV000796975|RCV001023518; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621054292105429GA16:g.2105429G>A-
NM_000548.5(TSC2):c.509T>C (p.Val170Ala)7249TSC2Uncertain significancers2085658266RCV001035170; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054302105430TC16:g.2105430T>C-
NM_000548.5(TSC2):c.512G>A (p.Gly171Asp)7249TSC2Uncertain significancers983899092RCV000822669; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054332105433GA16:g.2105433G>A-
NM_000548.5(TSC2):c.517T>G (p.Ser173Ala)7249TSC2Uncertain significance-1RCV001926474; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054382105438TG2105438-
NM_000548.5(TSC2):c.518C>T (p.Ser173Phe)7249TSC2Uncertain significancers773662047RCV001220756; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054392105439CT16:g.2105439C>T-
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)7249TSC2Conflicting interpretations of pathogenicityrs747538587RCV000551476|RCV000590906|RCV001023750; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621054422105442CT16:g.2105442C>TClinGen:CA054487C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.522G>A (p.Ser174=)7249TSC2Uncertain significancers2085660429RCV001062182; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054432105443GA16:g.2105443G>A-
NM_000548.5(TSC2):c.522G>C (p.Ser174=)7249TSC2Likely benign-1RCV001395673; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054432105443GC2105443-
NM_000548.5(TSC2):c.523G>A (p.Glu175Lys)7249TSC2Uncertain significancers1555498151RCV000644172; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054442105444GANC_000016.9:g.2105444G>AClinGen:CA394309294C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln)7249TSC2Uncertain significancers1555498151RCV001338617; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054442105444GC2105444-
NM_000548.5(TSC2):c.525A>G (p.Glu175=)7249TSC2Likely benign-1RCV002165529; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054462105446AG2105446-
NM_000548.5(TSC2):c.528C>A (p.Phe176Leu)7249TSC2Uncertain significance-1RCV001874164; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054492105449CA2105449-
NM_000548.5(TSC2):c.529C>T (p.Leu177Phe)7249TSC2Uncertain significancers867879148RCV001054854; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054502105450CT16:g.2105450C>T-
NM_000548.5(TSC2):c.532C>T (p.Leu178=)7249TSC2Benign/Likely benignrs1465941679RCV000547945|RCV000565994; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621054532105453CTNC_000016.9:g.2105453C>TClinGen:CA492955787C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.533T>C (p.Leu178Pro)7249TSC2Uncertain significance-1RCV002026837; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054542105454TC2105454-
NM_000548.5(TSC2):c.535G>A (p.Val179Met)7249TSC2Uncertain significancers777105764RCV000538231; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054562105456GANC_000016.9:g.2105456G>AClinGen:CA055211C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.537G>A (p.Val179=)7249TSC2Likely benign-1RCV002099128; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054582105458GA2105458-
NM_000548.5(TSC2):c.538C>A (p.Leu180Met)7249TSC2Uncertain significancers45485591RCV000704944; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054592105459CANC_000016.9:g.2105459C>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.539T>G (p.Leu180Arg)7249TSC2Uncertain significancers1567403610RCV000689885; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054602105460TG16:g.2105460T>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.540G>A (p.Leu180=)7249TSC2Conflicting interpretations of pathogenicityrs1567403619RCV001091438|RCV001340217; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054612105461GA16:g.2105461G>A-
NM_000548.5(TSC2):c.541G>A (p.Val181Met)7249TSC2Uncertain significance-1RCV001911647; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054622105462GA2105462-
NM_000548.5(TSC2):c.545A>T (p.Asn182Ile)7249TSC2Uncertain significancers1016698636RCV001035216; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054662105466AT16:g.2105466A>T-
NM_000548.5(TSC2):c.546C>T (p.Asn182=)7249TSC2Likely benign-1RCV002072508; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054672105467CT2105467-
NM_000548.5(TSC2):c.549G>C (p.Leu183Phe)7249TSC2Uncertain significancers1415519717RCV000644251; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054702105470GCNC_000016.9:g.2105470G>CClinGen:CA394309485C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.551T>G (p.Val184Gly)7249TSC2Uncertain significancers2085667006RCV001208134; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054722105472TG16:g.2105472T>G-
NM_000548.5(TSC2):c.551T>A (p.Val184Asp)7249TSC2Likely pathogenic-1RCV001379717; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054722105472TA2105472-
NM_000548.5(TSC2):c.552C>T (p.Val184=)7249TSC2Conflicting interpretations of pathogenicityrs199991910RCV000289780|RCV000467132|RCV000431095|RCV000566695|RCV001083691; NMedGen: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:8051621054732105473CTNC_000016.9:g.2105473C>TClinGen:CA055387C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.554A>C (p.Lys185Thr)7249TSC2Uncertain significance-1RCV001935678; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054752105475AC2105475-
NM_000548.5(TSC2):c.558C>T (p.Phe186=)7249TSC2Likely benignrs775642056RCV000467275; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054792105479CTNC_000016.9:g.2105479C>TClinGen:CA055391C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.558C>A (p.Phe186Leu)7249TSC2Uncertain significancers775642056RCV001321506; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054792105479CA2105479-
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser)7249TSC2Conflicting interpretations of pathogenicityrs45505405RCV000163373|RCV000190050|RCV000765260|RCV001086110; NMONDO: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:001621054812105481AGNC_000016.9:g.2105481A>GClinGen:CA022534
NM_000548.5(TSC2):c.564C>T (p.Ser188=)7249TSC2Likely benign-1RCV001485909; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054852105485CT2105485-
NM_000548.5(TSC2):c.566G>A (p.Cys189Tyr)7249TSC2Conflicting interpretations of pathogenicityrs764218079RCV000227485|RCV001024387; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621054872105487GANC_000016.9:g.2105487G>AClinGen:CA055403C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.566G>C (p.Cys189Ser)7249TSC2Uncertain significancers764218079RCV001024388|RCV001315789; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054872105487GC16:g.2105487G>C-
NM_000548.5(TSC2):c.567T>A (p.Cys189Ter)7249TSC2Pathogenicrs2085669104RCV001040877; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054882105488TA16:g.2105488T>A-
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter)7249TSC2Pathogenicrs137854359RCV000043304|RCV000201021; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054892105490TTA16:g.2105489_2105490insAClinGen:CA022559,Tuberous sclerosis database (TSC2):TSC2_00093C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.570C>T (p.Tyr190=)7249TSC2Likely benign-1RCV001427621; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054912105491CT2105491-
NM_000548.5(TSC2):c.571C>T (p.Leu191Phe)7249TSC2Uncertain significancers1555498201RCV000644190; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054922105492CTNC_000016.9:g.2105492C>TClinGen:CA394309670C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.573C>T (p.Leu191=)7249TSC2Benign/Likely benignrs397515059RCV000055288|RCV001024464|RCV000552561; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054942105494CT16:g.2105494C>TClinGen:CA022574,Tuberous sclerosis database (TSC2):TSC2_01147C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.573C>G (p.Leu191=)7249TSC2Conflicting interpretations of pathogenicityrs397515059RCV000179331|RCV001085605; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054942105494CG16:g.2105494C>GClinGen:CA022569CN169374 not specified;
NM_000548.5(TSC2):c.574G>A (p.Asp192Asn)7249TSC2Uncertain significancers1284679649RCV000644204; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054952105495GA16:g.2105495G>AClinGen:CA394309714C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.576C>T (p.Asp192=)7249TSC2Conflicting interpretations of pathogenicityrs761704292RCV000728148|RCV001083499; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054972105497CTNC_000016.9:g.2105497C>TClinGen:CA055420C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.577G>A (p.Glu193Lys)7249TSC2Conflicting interpretations of pathogenicityrs45517112RCV000189961|RCV000219746|RCV000698793; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054982105498GANC_000016.9:g.2105498G>AClinGen:CA055433C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.578A>C (p.Glu193Ala)7249TSC2Uncertain significancers2085672813RCV001042210; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054992105499AC16:g.2105499A>C-
NM_000548.5(TSC2):c.578A>G (p.Glu193Gly)7249TSC2Uncertain significance-1RCV001885601; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621054992105499AG2105499-
NM_000548.5(TSC2):c.579G>A (p.Glu193=)7249TSC2Likely benignrs1192379518RCV000928973|RCV001422999; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055002105500GA16:g.2105500G>A-
NM_000548.5(TSC2):c.582C>T (p.Tyr194=)7249TSC2Benign/Likely benignrs750174170RCV001024577|RCV001464550; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055032105503CT16:g.2105503C>T-
NM_000548.5(TSC2):c.582C>G (p.Tyr194Ter)7249TSC2Pathogenicrs750174170RCV001224397; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055032105503CG16:g.2105503C>G-
NM_000548.5(TSC2):c.583A>G (p.Ile195Val)7249TSC2Benign/Likely benignrs148325559RCV000189962|RCV000205768|RCV000573793; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621055042105504AGNC_000016.9:g.2105504A>GClinGen:CA055442C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.585C>T (p.Ile195=)7249TSC2Likely benignrs397515309RCV000644401; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055062105506CTNC_000016.9:g.2105506C>TClinGen:CA055446C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.585C>G (p.Ile195Met)7249TSC2Uncertain significancers397515309RCV000704748; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055062105506CGNC_000016.9:g.2105506C>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr)7249TSC2Conflicting interpretations of pathogenicityrs45517113RCV000043220|RCV000473187|RCV001024627|RCV001719786; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621055072105507GA16:g.2105507G>AClinGen:CA022594,Tuberous sclerosis database (TSC2):TSC2_00356CN169374 not specified;
NM_000548.5(TSC2):c.587C>T (p.Ala196Val)7249TSC2Uncertain significancers1596271211RCV000810242; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055082105508CT16:g.2105508C>T-
NM_000548.5(TSC2):c.590G>A (p.Arg197Lys)7249TSC2Uncertain significance-1RCV001372608; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055112105511GA2105511-
NM_000548.5(TSC2):c.593T>C (p.Met198Thr)7249TSC2Uncertain significancers45517114RCV000042635|RCV000455251|RCV001370970; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055142105514TC16:g.2105514T>CClinGen:CA022610,Tuberous sclerosis database (TSC2):TSC2_00880CN169374 not specified;
NM_000548.5(TSC2):c.594G>A (p.Met198Ile)7249TSC2Uncertain significancers1452242351RCV001063651; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055152105515GA16:g.2105515G>A-
NM_000548.5(TSC2):c.595G>C (p.Val199Leu)7249TSC2Uncertain significancers587778733RCV000122219|RCV000810100; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055162105516GCNC_000016.9:g.2105516G>CClinGen:CA022614CN169374 not specified;
NM_000548.5(TSC2):c.596T>C (p.Val199Ala)7249TSC2Uncertain significancers1555498243RCV000533114; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055172105517TCNC_000016.9:g.2105517T>CClinGen:CA394309899C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.599A>G (p.Gln200Arg)7249TSC2Uncertain significancers2085677930RCV001231599; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055202105520AG16:g.2105520A>G-
NM_000548.5(TSC2):c.599+2T>G7249TSC2Likely pathogenicrs45484992RCV000043142|RCV001037420; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055222105522TG16:g.2105522T>GClinGen:CA022631,Tuberous sclerosis database (TSC2):TSC2_00897C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+3A>G7249TSC2Conflicting interpretations of pathogenicityrs397514899RCV000055073|RCV000557913|RCV001529485; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621055232105523AG16:g.2105523A>GClinGen:CA022636,Tuberous sclerosis database (TSC2):TSC2_02127CN169374 not specified;
NM_000548.5(TSC2):c.599+5_599+7del7249TSC2Uncertain significance-1RCV002053874; NHuman 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:5381621055232105525TAAGT2105522-
NM_000548.5(TSC2):c.599+4A>G7249TSC2Uncertain significancers397515140RCV000055405|RCV001063099; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055242105524AG16:g.2105524A>GClinGen:CA022641,Tuberous sclerosis database (TSC2):TSC2_02128C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+5G>A7249TSC2Uncertain significancers45463996RCV000043143|RCV000792508; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055252105525GANC_000016.9:g.2105525G>AClinGen:CA022643,Tuberous sclerosis database (TSC2):TSC2_00360C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+5G>C7249TSC2Uncertain significancers45463996RCV000043144|RCV001368708; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055252105525GC16:g.2105525G>CClinGen:CA022647,Tuberous sclerosis database (TSC2):TSC2_00881C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.599+6A>G7249TSC2Uncertain significancers2085679383RCV001302077; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055262105526AG2105526-
NM_000548.5(TSC2):c.599+8A>G7249TSC2Likely benign-1RCV001466085; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055282105528AG2105528-
NM_000548.5(TSC2):c.599+10_599+12del7249TSC2Likely benign-1RCV002112503; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055282105530AAAGA2105527-
NM_000548.5(TSC2):c.599+10G>C7249TSC2Benign/Likely benignrs1037449903RCV000422677|RCV000545787; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055302105530GC16:g.2105530G>CClinGen:CA16607278CN169374 not specified;
NM_000548.5(TSC2):c.599+10G>T7249TSC2Likely benignrs1037449903RCV000975915|RCV001398484; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055302105530GT16:g.2105530G>T-
NM_000548.5(TSC2):c.599+17G>C7249TSC2Benign/Likely benignrs533989586RCV000189965|RCV002054243; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621055372105537GC16:g.2105537G>CClinGen:CA055484CN169374 not specified;
NC_000016.10:g.(?_2056176)_(2074415_?)del7249TSC2Pathogenic-1RCV000644426; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061772124416nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.10:g.(?_2056176)_(2064447_?)del7249TSC2Pathogenic-1RCV000809999; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061772114448nana-
NM_000548.5(TSC2):c.600-20G>C7249TSC2Likely benign-1RCV002114350; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061772106177GC2106177-
NM_000548.5(TSC2):c.600-18G>A7249TSC2Likely benign-1RCV002094424; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061792106179GA2106179-
NM_000548.5(TSC2):c.600-18G>C7249TSC2Likely benign-1RCV002206179; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061792106179GC2106179-
NM_000548.5(TSC2):c.600-15C>T7249TSC2Likely benignrs369708731RCV000055313|RCV000601818|RCV002054886; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061822106182CT16:g.2106182C>TClinGen:CA022661,Tuberous sclerosis database (TSC2):TSC2_01138CN169374 not specified;
NM_000548.5(TSC2):c.600-15C>A7249TSC2Likely benign-1RCV002201854; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061822106182CA2106182-
NM_000548.5(TSC2):c.600-14G>A7249TSC2Likely benign-1RCV002215665; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061832106183GA2106183-
NM_000548.5(TSC2):c.600-10C>T7249TSC2Likely benignrs1555498511RCV000644402; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061872106187CT16:g.2106187C>TClinGen:CA394310475C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.600-9T>A7249TSC2Uncertain significance-1RCV001920118; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061882106188TA2106188-
NM_000548.5(TSC2):c.600-7C>T7249TSC2Likely benign-1RCV001495168; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061902106190CT2106190-
NM_000548.5(TSC2):c.600-5T>C7249TSC2Likely benignrs779176291RCV000930337|RCV001403359; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061922106192TC16:g.2106192T>C-
NM_000548.5(TSC2):c.600-4G>T7249TSC2Likely benign-1RCV002123794; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061932106193GT2106193-
NM_000548.5(TSC2):c.600-2A>T7249TSC2Pathogenicrs45468592RCV001329371; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061952106195AT2106195-
NM_000548.5(TSC2):c.600-1G>A7249TSC2Pathogenicrs45517117RCV000043169|RCV000685234; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061962106196GA16:g.2106196G>AClinGen:CA022665,Tuberous sclerosis database (TSC2):TSC2_00100C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.601A>T (p.Met201Leu)7249TSC2Uncertain significancers1596275224RCV001024810|RCV001063455; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061982106198AT16:g.2106198A>T-
NM_000548.5(TSC2):c.601A>G (p.Met201Val)7249TSC2Uncertain significancers1596275224RCV001217149; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061982106198AG16:g.2106198A>G-
NM_000548.5(TSC2):c.602T>C (p.Met201Thr)7249TSC2Uncertain significance-1RCV001931275; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621061992106199TC2106199-
NM_000548.5(TSC2):c.603G>C (p.Met201Ile)7249TSC2Uncertain significancers45506197RCV000043148|RCV000691597|RCV001024832; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621062002106200GC16:g.2106200G>CClinGen:CA022680,Tuberous sclerosis database (TSC2):TSC2_00362C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.606C>T (p.Ile202=)7249TSC2Likely benign-1RCV002201069; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062032106203CT2106203-
NM_000548.5(TSC2):c.609T>C (p.Cys203=)7249TSC2Likely benignrs1596275256RCV000980586; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062062106206TC16:g.2106206T>C-
NM_000548.5(TSC2):c.610C>T (p.Leu204=)7249TSC2Likely benign-1RCV002156257; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062072106207CT2106207-
NM_000548.5(TSC2):c.613C>G (p.Leu205Val)7249TSC2Uncertain significancers1596275276RCV000799456; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062102106210CG16:g.2106210C>G-
NM_000548.5(TSC2):c.613C>T (p.Leu205=)7249TSC2Conflicting interpretations of pathogenicityrs1596275276RCV000939323|RCV001024930|RCV001814244; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621062102106210CT16:g.2106210C>T-
NM_000548.5(TSC2):c.614T>C (p.Leu205Pro)7249TSC2Uncertain significancers2085789314RCV001066224; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062112106211TC16:g.2106211T>C-
NM_000548.5(TSC2):c.615G>A (p.Leu205=)7249TSC2Likely benignrs1596275291RCV000932614|RCV001398921; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062122106212GA16:g.2106212G>A-
NM_000548.5(TSC2):c.615G>C (p.Leu205=)7249TSC2Likely benign-1RCV001458630; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062122106212GC2106212-
NM_000548.5(TSC2):c.616T>C (p.Cys206Arg)7249TSC2Uncertain significancers1596275305RCV000803803; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062132106213TC16:g.2106213T>C-
NM_000548.5(TSC2):c.617G>A (p.Cys206Tyr)7249TSC2Uncertain significance-1RCV001366939; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062142106214GA2106214-
NM_000548.5(TSC2):c.618C>T (p.Cys206=)7249TSC2Conflicting interpretations of pathogenicityrs45498496RCV000462179|RCV000715908|RCV001086082; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062152106215CTNC_000016.9:g.2106215C>TClinGen:CA055766CN169374 not specified;
NM_000548.5(TSC2):c.618del (p.Cys206fs)7249TSC2Pathogenic-1RCV002007370; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062152106215GCG2106214-
NM_000548.5(TSC2):c.619G>A (p.Val207Ile)7249TSC2Conflicting interpretations of pathogenicityrs139929314RCV000729897|RCV001024992|RCV001087306; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062162106216GA16:g.2106216G>AClinGen:CA055776CN169374 not specified;
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp)7249TSC2Conflicting interpretations of pathogenicityrs374410454RCV000055314|RCV000533936|RCV001553178; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621062192106219CT16:g.2106219C>TClinGen:CA022695,Tuberous sclerosis database (TSC2):TSC2_02129C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.622C>A (p.Arg208=)7249TSC2Uncertain significancers374410454RCV001051030; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062192106219CA16:g.2106219C>A-
NM_000548.5(TSC2):c.623G>A (p.Arg208Gln)7249TSC2Benign/Likely benignrs368386966RCV001025035|RCV001510846; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062202106220GA16:g.2106220G>A-
NM_000548.5(TSC2):c.627C>T (p.Thr209=)7249TSC2Benign/Likely benignrs776293094RCV000465242|RCV001025075|RCV001704367; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621062242106224CT16:g.2106224C>TClinGen:CA055830CN169374 not specified;
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr)7249TSC2Benign/Likely benignrs147196739RCV000163340|RCV000189966|RCV000229264|RCV000347186|RCV001721043; NMONDO: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:CN5172021621062252106225GA16:g.2106225G>AClinGen:CA022705C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.628G>C (p.Ala210Pro)7249TSC2Uncertain significance-1RCV002018547; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062252106225GC2106225-
NM_000548.5(TSC2):c.629C>T (p.Ala210Val)7249TSC2Benign/Likely benignrs764925296RCV000167112|RCV000233190|RCV001721086; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621062262106226CT16:g.2106226C>TClinGen:CA022710C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.629C>G (p.Ala210Gly)7249TSC2Uncertain significance-1RCV002025971; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062262106226CG2106226-
NM_000548.5(TSC2):c.630G>A (p.Ala210=)7249TSC2Benign/Likely benignrs567756494RCV000227094|RCV000392629|RCV000491740|RCV001711627; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621062272106227GANC_000016.9:g.2106227G>AClinGen:CA055849C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.630G>C (p.Ala210=)7249TSC2Likely benign-1RCV001462373; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062272106227GC2106227-
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe)7249TSC2Uncertain significancers878854120RCV000230979|RCV001025142; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621062292106229CTNC_000016.9:g.2106229C>TClinGen:CA10583283C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.632C>A (p.Ser211Tyr)7249TSC2Uncertain significancers878854120RCV000808653; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062292106229CA16:g.2106229C>A-
NM_000548.5(TSC2):c.633C>G (p.Ser211=)7249TSC2Benign/Likely benignrs762659998RCV000644415|RCV001025148; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621062302106230CGNC_000016.9:g.2106230C>GClinGen:CA492956354C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.633C>T (p.Ser211=)7249TSC2Likely benignrs762659998RCV000898787|RCV001488887; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062302106230CT16:g.2106230C>T-
NM_000548.5(TSC2):c.635C>T (p.Ser212Phe)7249TSC2Uncertain significancers2085795216RCV001240103; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062322106232CT16:g.2106232C>T-
NM_000548.5(TSC2):c.636T>C (p.Ser212=)7249TSC2Likely benign-1RCV001505467; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062332106233TC2106233-
NM_000548.5(TSC2):c.637G>A (p.Val213Met)7249TSC2Uncertain significancers1060500927RCV000466914; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062342106234GANC_000016.9:g.2106234G>AClinGen:CA16614905C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.641_648+1del7249TSC2Uncertain significancers2085795613RCV001321641; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062362106244TGGACATAGAT2106235-
NM_000548.5(TSC2):c.642C>T (p.Asp214=)7249TSC2Likely benign-1RCV001469513; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062392106239CT2106239-
NM_000548.5(TSC2):c.643A>G (p.Ile215Val)7249TSC2Uncertain significancers1293515155RCV000802751|RCV001759528; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621062402106240AG16:g.2106240A>G-
NM_000548.5(TSC2):c.644T>C (p.Ile215Thr)7249TSC2Uncertain significancers1555498571RCV000546698; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062412106241TCNC_000016.9:g.2106241T>CClinGen:CA394311067C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.645_648del (p.Ile215fs)7249TSC2Pathogenicrs1596275494RCV000808105; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062422106245TAGAGT16:g.2106242_2106245del-
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys)7249TSC2Uncertain significancers45517118RCV000042639|RCV000644252; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062432106243GANC_000016.9:g.2106243G>AClinGen:CA022720,Tuberous sclerosis database (TSC2):TSC2_00364
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter)7249TSC2Pathogenicrs45517118RCV000042640|RCV000201082; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062432106243GT16:g.2106243G>TClinGen:CA022725,Tuberous sclerosis database (TSC2):TSC2_00803C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.646G>C (p.Glu216Gln)7249TSC2Uncertain significancers45517118RCV000802146; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062432106243GC16:g.2106243G>C-
NM_000548.5(TSC2):c.648+1G>A7249TSC2Pathogenicrs45488893RCV000042670|RCV000201164; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062462106246GA16:g.2106246G>AClinGen:CA022731,Tuberous sclerosis database (TSC2):TSC2_00365C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.648+4A>G7249TSC2Uncertain significance-1RCV002014582; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062492106249AG2106249-
NM_000548.5(TSC2):c.648+5G>C7249TSC2Uncertain significancers2085796888RCV001044994; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062502106250GC16:g.2106250G>C-
NM_000548.5(TSC2):c.648+5G>A7249TSC2Uncertain significance-1RCV002038512; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062502106250GA2106250-
NM_000548.5(TSC2):c.648+6T>C7249TSC2Conflicting interpretations of pathogenicityrs372007135RCV000523471|RCV001086111; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062512106251TCNC_000016.9:g.2106251T>CClinGen:CA055922
NM_000548.5(TSC2):c.648+7G>C7249TSC2Likely benign-1RCV001436635; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062522106252GC2106252-
NM_000548.5(TSC2):c.648+7G>T7249TSC2Likely benign-1RCV002119172; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062522106252GT2106252-
NM_000548.5(TSC2):c.648+9C>T7249TSC2Benignrs756588732RCV000477601; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062542106254CTNC_000016.9:g.2106254C>TClinGen:CA055929C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.648+9C>G7249TSC2Likely benignrs756588732RCV000902146; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062542106254CG16:g.2106254C>G-
NM_000548.5(TSC2):c.648+10T>C7249TSC2Likely benign-1RCV001399763; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062552106255TC2106255-
NM_000548.5(TSC2):c.648+11C>G7249TSC2Likely benign-1RCV002159212; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062562106256CG2106256-
NM_000548.5(TSC2):c.648+12C>A7249TSC2Likely benign-1RCV002194893; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062572106257CA2106257-
NM_000548.5(TSC2):c.648+13C>A7249TSC2Likely benign-1RCV002139678; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062582106258CA2106258-
NM_000548.5(TSC2):c.648+13C>T7249TSC2Likely benign-1RCV002157072; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062582106258CT2106258-
NM_000548.5(TSC2):c.648+14C>T7249TSC2Likely benignrs941595244RCV000430696|RCV002059880; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062592106259CT16:g.2106259C>TClinGen:CA16607283CN169374 not specified;
NM_000548.5(TSC2):c.648+17C>A7249TSC2Likely benignrs755431618RCV000427744|RCV002059606; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062622106262CA16:g.2106262C>AClinGen:CA055880CN169374 not specified;
NM_000548.5(TSC2):c.648+18C>T7249TSC2Likely benign-1RCV002127541; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062632106263CT2106263-
NM_000548.5(TSC2):c.648+19C>T7249TSC2Likely benignrs1196860918RCV000616975|RCV002062999; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062642106264CT16:g.2106264C>TClinGen:CA658798473CN169374 not specified;
NM_000548.5(TSC2):c.648+19C>G7249TSC2Likely benign-1RCV002091357; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621062642106264CG2106264-
NC_000016.9:g.(?_2106344)_(2107114_?)del7249TSC2Pathogenic-1RCV002044931; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621063442107114nana-1-
NM_000548.5(TSC2):c.649-20G>A7249TSC2Benign/Likely benignrs377558380RCV000444158|RCV002061547; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066252106625GA16:g.2106625G>AClinGen:CA055938CN169374 not specified;
NM_000548.5(TSC2):c.649-20G>T7249TSC2Likely benign-1RCV002144300; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066252106625GT2106625-
NM_000548.5(TSC2):c.649-18C>T7249TSC2Benign/Likely benign-1RCV001679881|RCV002073190; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066272106627CT2106627-
NM_000548.5(TSC2):c.649-18C>A7249TSC2Likely benign-1RCV002134315; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066272106627CA2106627-
NM_000548.5(TSC2):c.649-17G>A7249TSC2Likely benign-1RCV002178440; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066282106628GA2106628-
NM_000548.5(TSC2):c.649-16T>C7249TSC2Likely benign-1RCV002074893; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066292106629TC2106629-
NM_000548.5(TSC2):c.649-11C>G7249TSC2Likely benign-1RCV002136189; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066342106634CG2106634-
NM_000548.5(TSC2):c.649-9C>G7249TSC2Benign/Likely benignrs781099543RCV000534873|RCV001613358; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621066362106636CG16:g.2106636C>GClinGen:CA056040C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-9C>T7249TSC2Likely benign-1RCV001418819; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066362106636CT2106636-
NM_000548.5(TSC2):c.649-8T>C7249TSC2Likely benign-1RCV001428778; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066372106637TC2106637-
NM_000548.5(TSC2):c.649-7C>A7249TSC2Uncertain significancers1596277822RCV000811764; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066382106638CA16:g.2106638C>A-
NM_000548.5(TSC2):c.649-6C>T7249TSC2Likely benign-1RCV001437683; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066392106639CT2106639-
NM_000548.5(TSC2):c.649-5A>T7249TSC2Likely benignrs1555498745RCV000559114|RCV001401881; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066402106640ATNC_000016.9:g.2106640A>TClinGen:CA658658354C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-4C>T7249TSC2Likely benignrs1329743344RCV000644319; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066412106641CTNC_000016.9:g.2106641C>TClinGen:CA620373170C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649-1G>A7249TSC2Likely pathogenicrs794727906RCV000660340; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066442106644GANC_000016.9:g.2106644G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649G>C (p.Val217Leu)7249TSC2Uncertain significancers1567407896RCV000701842; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066452106645GC16:g.2106645G>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.649G>A (p.Val217Ile)7249TSC2Uncertain significance-1RCV002027146; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066452106645GA2106645-
NM_000548.5(TSC2):c.651C>G (p.Val217=)7249TSC2Likely benignrs780004703RCV000876282; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066472106647CG16:g.2106647C>G-
NM_000548.5(TSC2):c.651C>A (p.Val217=)7249TSC2Likely benign-1RCV002212872; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066472106647CA2106647-
NM_000548.5(TSC2):c.655C>T (p.Leu219=)7249TSC2Benign/Likely benignrs369046625RCV000566623|RCV000644292; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066512106651CT16:g.2106651C>TClinGen:CA056061C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.655C>G (p.Leu219Val)7249TSC2Uncertain significance-1RCV001954399; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066512106651CG2106651-
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro)7249TSC2Uncertain significancers397515249RCV000055561|RCV001053191; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066522106652TC16:g.2106652T>CClinGen:CA022749,Tuberous sclerosis database (TSC2):TSC2_02012C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.657G>A (p.Leu219=)7249TSC2Benign/Likely benignrs768570301RCV000442911|RCV000547338|RCV001025430; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621066532106653GA16:g.2106653G>AClinGen:CA056065CN169374 not specified;
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter)7249TSC2Pathogenicrs45517119RCV000042671|RCV000520962|RCV000699187; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066542106654CTNC_000016.9:g.2106654C>TClinGen:CA022760,Tuberous sclerosis database (TSC2):TSC2_00366
NM_000548.5(TSC2):c.658C>G (p.Gln220Glu)7249TSC2Uncertain significancers45517119RCV000685632; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066542106654CG16:g.2106654C>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.661G>A (p.Val221Met)7249TSC2Uncertain significancers1567408059RCV000694031; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066572106657GANC_000016.9:g.2106657G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.663G>A (p.Val221=)7249TSC2Benign/Likely benignrs774115464RCV000190051|RCV000983864|RCV001025485; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621066592106659GANC_000016.9:g.2106659G>AClinGen:CA056077CN169374 not specified;
NM_000548.5(TSC2):c.664C>T (p.Leu222=)7249TSC2Likely benign-1RCV001472603; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066602106660CT2106660-
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro)7249TSC2Uncertain significancers45517120RCV000042641|RCV001852883; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066612106661TC16:g.2106661T>CClinGen:CA022775,Tuberous sclerosis database (TSC2):TSC2_00804C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.666G>A (p.Leu222=)7249TSC2Likely benignrs761351907RCV000932389|RCV001498074; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066622106662GA16:g.2106662G>A-
NM_000548.5(TSC2):c.667G>A (p.Asp223Asn)7249TSC2Uncertain significance-1RCV002022867; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066632106663GA2106663-
NM_000548.5(TSC2):c.669C>T (p.Asp223=)7249TSC2Benign/Likely benignrs35501344RCV000472417|RCV001025543|RCV001778969; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621066652106665CTNC_000016.9:g.2106665C>TClinGen:CA056094C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.670G>A (p.Ala224Thr)7249TSC2Conflicting interpretations of pathogenicityrs772558666RCV000528200|RCV001770447; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621066662106666GA16:g.2106666G>AClinGen:CA056104C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.670G>T (p.Ala224Ser)7249TSC2Uncertain significancers772558666RCV001226297; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066662106666GT16:g.2106666G>T-
NM_000548.5(TSC2):c.671C>T (p.Ala224Val)7249TSC2Uncertain significance-1RCV002007796; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066672106667CT2106667-
NM_000548.5(TSC2):c.672C>T (p.Ala224=)7249TSC2Benign/Likely benignrs138897064RCV000464750|RCV000561692|RCV001696905; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621066682106668CTNC_000016.9:g.2106668C>TClinGen:CA056111C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.673G>A (p.Val225Met)7249TSC2Conflicting interpretations of pathogenicityrs142919353RCV000466214|RCV000572112; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621066692106669GANC_000016.9:g.2106669G>AClinGen:CA056118C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.673G>T (p.Val225Leu)7249TSC2Uncertain significancers142919353RCV000685449; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066692106669GT16:g.2106669G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.674T>C (p.Val225Ala)7249TSC2Uncertain significancers1437259556RCV001025611|RCV001221065; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066702106670TC16:g.2106670T>C-
NM_000548.5(TSC2):c.674T>A (p.Val225Glu)7249TSC2Uncertain significancers1437259556RCV001313096; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066702106670TA2106670-
NM_000548.5(TSC2):c.675G>A (p.Val225=)7249TSC2Likely benign-1RCV001409759; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066712106671GA2106671-
NM_000548.5(TSC2):c.676G>C (p.Val226Leu)7249TSC2Uncertain significancers2085881555RCV001224304; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066722106672GC16:g.2106672G>C-
NM_000548.5(TSC2):c.678C>T (p.Val226=)7249TSC2Likely benign-1RCV001479247; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066742106674CT2106674-
NM_000548.5(TSC2):c.679T>G (p.Cys227Gly)7249TSC2Uncertain significancers753197543RCV001299291; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066752106675TG2106675-
NM_000548.5(TSC2):c.681C>T (p.Cys227=)7249TSC2Conflicting interpretations of pathogenicityrs45443205RCV000043158|RCV000427770|RCV000571297|RCV000727275|RCV001082427; NMedGen: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:8051621066772106677CT16:g.2106677C>TClinGen:CA022794,Tuberous sclerosis database (TSC2):TSC2_00945C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter)7249TSC2Pathogenicrs1567408314RCV000700694; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066782106679TTA16:g.2106678_2106679insA-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.683A>G (p.Tyr228Cys)7249TSC2Uncertain significancers2085882405RCV001309775; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066792106679AG2106679-
NM_000548.5(TSC2):c.684C>T (p.Tyr228=)7249TSC2Likely benignrs397515034RCV000864938; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066802106680CT16:g.2106680C>T-
NM_000548.5(TSC2):c.686A>G (p.Asn229Ser)7249TSC2Conflicting interpretations of pathogenicityrs1555498800RCV000536042|RCV001025745; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621066822106682AGNC_000016.9:g.2106682A>GClinGen:CA394312549C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.688T>C (p.Cys230Arg)7249TSC2Uncertain significancers1043187800RCV001056878; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066842106684TC16:g.2106684T>C-
NM_000548.5(TSC2):c.688T>A (p.Cys230Ser)7249TSC2Uncertain significancers1043187800RCV001206583; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066842106684TA16:g.2106684T>A-
NM_000548.5(TSC2):c.691_692dup (p.Pro232fs)7249TSC2Pathogenic-1RCV001999926; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066862106687CCCT2106686-
NM_000548.5(TSC2):c.691C>T (p.Leu231=)7249TSC2Likely benignrs1555498820RCV000548243; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066872106687CTNC_000016.9:g.2106687C>TClinGen:CA492957099C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.694C>T (p.Pro232Ser)7249TSC2Uncertain significancers751846529RCV000458732; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066902106690CTNC_000016.9:g.2106690C>TClinGen:CA056156C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu)7249TSC2Conflicting interpretations of pathogenicityrs760100924RCV000575507|RCV000686831|RCV001115886|RCV001538849; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621066912106691CT16:g.2106691C>TClinGen:CA056163C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.696G>A (p.Pro232=)7249TSC2Benign/Likely benignrs539797467RCV000460295|RCV000572090|RCV001721497; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621066922106692GANC_000016.9:g.2106692G>AClinGen:CA056169C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.697G>T (p.Ala233Ser)7249TSC2Uncertain significancers1567408479RCV000699433; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066932106693GT16:g.2106693G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.698C>G (p.Ala233Gly)7249TSC2Uncertain significancers1555498839RCV000528797; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066942106694CGNC_000016.9:g.2106694C>GClinGen:CA394312631C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.699T>C (p.Ala233=)7249TSC2Likely benignrs1596278327RCV000934405|RCV001409126; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066952106695TC16:g.2106695T>C-
NM_000548.5(TSC2):c.699T>G (p.Ala233=)7249TSC2Likely benign-1RCV001417244; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066952106695TG2106695-
NM_000548.5(TSC2):c.700G>C (p.Glu234Gln)7249TSC2Uncertain significancers397515018RCV000793792|RCV001796781; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621066962106696GC16:g.2106696G>C-
NM_000548.5(TSC2):c.703A>G (p.Ser235Gly)7249TSC2Uncertain significancers1567408536RCV000691661; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621066992106699AG16:g.2106699A>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)7249TSC2Benign/Likely benignrs397514957RCV000055145|RCV000570091|RCV000865248; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067002106700GA16:g.2106700G>AClinGen:CA022820,Tuberous sclerosis database (TSC2):TSC2_01216C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.710dup (p.Leu238fs)7249TSC2Pathogenicrs397515166RCV000644125; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067032106704TTCNC_000016.9:g.2106706dupClinGen:CA658798474C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.707T>C (p.Leu236Pro)7249TSC2Conflicting interpretations of pathogenicityrs1596278377RCV001026014|RCV001862350; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067032106703TC16:g.2106703T>C-
NM_000548.5(TSC2):c.707_708delinsCT (p.Leu236Pro)7249TSC2Uncertain significancers2085886566RCV001231521; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067032106704TCCTNC_000016.9:g.2106703_2106704delinsCT-
NM_000548.5(TSC2):c.708C>T (p.Leu236=)7249TSC2Benign/Likely benignrs756121647RCV000163449|RCV000307587|RCV000658730|RCV001079536; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067042106704CT16:g.2106704C>TClinGen:CA022830C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.709C>G (p.Pro237Ala)7249TSC2Uncertain significancers1555498859RCV001203242; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067052106705CG16:g.2106705C>G-
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu)7249TSC2Benign/Likely benignrs139060277RCV000190052|RCV000227699|RCV001026051; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067062106706CTNC_000016.9:g.2106706C>TClinGen:CA056182CN169374 not specified;
NM_000548.5(TSC2):c.710C>G (p.Pro237Arg)7249TSC2Uncertain significancers139060277RCV000573510|RCV001238459; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067062106706CGNC_000016.9:g.2106706C>GClinGen:CA394312711C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.710C>A (p.Pro237Gln)7249TSC2Uncertain significancers139060277RCV001055262; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067062106706CA16:g.2106706C>A-
NM_000548.5(TSC2):c.711G>A (p.Pro237=)7249TSC2Benignrs189380607RCV000541543; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067072106707GANC_000016.9:g.2106707G>AClinGen:CA056185C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.712C>T (p.Leu238=)7249TSC2Likely benign-1RCV002165960; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067082106708CT2106708-
NM_000548.5(TSC2):c.713T>C (p.Leu238Pro)7249TSC2Uncertain significancers768623382RCV000809469|RCV001026083; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067092106709TC16:g.2106709T>C-
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys)7249TSC2Benign/Likely benignrs778544723RCV000464650|RCV001721234; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621067122106712TGNC_000016.9:g.2106712T>GClinGen:CA056200CN169374 not specified;
NM_000548.5(TSC2):c.718_720del (p.Ile240del)7249TSC2Uncertain significance-1RCV002007814; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067122106714TTCAT2106711-
NM_000548.5(TSC2):c.717C>A (p.Phe239Leu)7249TSC2Uncertain significancers1567408727RCV001048016; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067132106713CA16:g.2106713C>A-
NM_000548.5(TSC2):c.717C>T (p.Phe239=)7249TSC2Likely benign-1RCV001396938; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067132106713CT2106713-
NM_000548.5(TSC2):c.718A>G (p.Ile240Val)7249TSC2Uncertain significancers796053482RCV000801305; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067142106714AG16:g.2106714A>G-
NM_000548.5(TSC2):c.718A>T (p.Ile240Phe)7249TSC2Uncertain significancers796053482RCV000471121; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067142106714ATNC_000016.9:g.2106714A>TClinGen:CA16614690C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.720C>T (p.Ile240=)7249TSC2Benign/Likely benignrs45517123RCV000043176|RCV000477220|RCV000609500|RCV001026159|RCV001815176; NMedGen: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:CN5172021621067162106716CT16:g.2106716C>TClinGen:CA022859,Tuberous sclerosis database (TSC2):TSC2_00305CN169374 not specified;
NM_000548.5(TSC2):c.721G>A (p.Val241Ile)7249TSC2Benign/Likely benignrs200943828RCV000554001|RCV000572855|RCV001712292|RCV001797720; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MedGen:CN1693741621067172106717GA16:g.2106717G>AClinGen:CA056228C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.721G>C (p.Val241Leu)7249TSC2Uncertain significancers200943828RCV000644255|RCV001756076; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621067172106717GCNC_000016.9:g.2106717G>CClinGen:CA394312728C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.722T>C (p.Val241Ala)7249TSC2Uncertain significance-1RCV001365152; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067182106718TC2106718-
NM_000548.5(TSC2):c.724dup (p.Thr242fs)7249TSC2Pathogenicrs397515256RCV000055569|RCV001058718; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067192106720TTA16:g.2106719_2106720insAClinGen:CA022864,Tuberous sclerosis database (TSC2):TSC2_02333C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.725C>T (p.Thr242Ile)7249TSC2Uncertain significancers1007232729RCV000794968; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067212106721CT16:g.2106721C>T-
NM_000548.5(TSC2):c.725C>A (p.Thr242Asn)7249TSC2Uncertain significance-1RCV001364267; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067212106721CA2106721-
NM_000548.5(TSC2):c.726C>T (p.Thr242=)7249TSC2Benign/Likely benignrs570051626RCV000251683|RCV001026217|RCV000525190|RCV001640487; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621067222106722CTNC_000016.9:g.2106722C>TClinGen:CA056233CN169374 not specified;
NM_000548.5(TSC2):c.727C>G (p.Leu243Val)7249TSC2Uncertain significancers796053502RCV000230600; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067232106723CGNC_000016.9:g.2106723C>GClinGen:CA10583284C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.729C>G (p.Leu243=)7249TSC2Benign/Likely benignrs45473698RCV000042642|RCV000163296|RCV000180175|RCV000204102|RCV001811309; NMedGen: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:CN5172021621067252106725CG16:g.2106725C>GClinGen:CA022884,Tuberous sclerosis database (TSC2):TSC2_00122C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.729C>T (p.Leu243=)7249TSC2Benign/Likely benignrs45473698RCV000931957|RCV001026241|RCV001470664; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067252106725CT16:g.2106725C>T-
NM_000548.5(TSC2):c.733C>T (p.Arg245Cys)7249TSC2Conflicting interpretations of pathogenicityrs375574283RCV000472885|RCV000565481|RCV001584139; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621067292106729CTNC_000016.9:g.2106729C>TClinGen:CA056249C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.733C>G (p.Arg245Gly)7249TSC2Uncertain significancers375574283RCV000542183|RCV001026291; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067292106729CGNC_000016.9:g.2106729C>GClinGen:CA394312748C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.734G>A (p.Arg245His)7249TSC2Benign/Likely benignrs397515011RCV000055226|RCV000248644|RCV000570250|RCV000234531; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067302106730GA16:g.2106730G>AClinGen:CA022905,Tuberous sclerosis database (TSC2):TSC2_02052C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.735C>T (p.Arg245=)7249TSC2Likely benignrs763419528RCV000464967; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067312106731CTNC_000016.9:g.2106731C>TClinGen:CA056266C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)7249TSC2Conflicting interpretations of pathogenicityrs137854123RCV000042644|RCV000554931|RCV000612409; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621067322106732AG16:g.2106732A>GClinGen:CA022910,Tuberous sclerosis database (TSC2):TSC2_01100CN169374 not specified;
NM_000548.5(TSC2):c.739A>G (p.Ile247Val)7249TSC2Conflicting interpretations of pathogenicityrs774526017RCV000405414|RCV000433208|RCV000465522; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067352106735AGNC_000016.9:g.2106735A>GClinGen:CA056277CN169374 not specified;
NM_000548.5(TSC2):c.741C>T (p.Ile247=)7249TSC2Likely benign-1RCV001399131; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067372106737CT2106737-
NM_000548.5(TSC2):c.743A>T (p.Asn248Ile)7249TSC2Uncertain significancers762104739RCV000477259; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067392106739ATNC_000016.9:g.2106739A>TClinGen:CA16614645C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser)7249TSC2Conflicting interpretations of pathogenicityrs762104739RCV000644409|RCV001026437; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067392106739AG16:g.2106739A>GClinGen:CA056283C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.744C>T (p.Asn248=)7249TSC2Benign/Likely benignrs767565673RCV000467885|RCV001026446; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067402106740CTNC_000016.9:g.2106740C>TClinGen:CA056290C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.745G>A (p.Val249Ile)7249TSC2Uncertain significancers750649974RCV000703235|RCV001026461; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067412106741GA16:g.2106741G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.745G>C (p.Val249Leu)7249TSC2Uncertain significancers750649974RCV000691727|RCV001026462; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621067412106741GCNC_000016.9:g.2106741G>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.746T>C (p.Val249Ala)7249TSC2Uncertain significancers1596278719RCV000796617; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067422106742TC16:g.2106742T>C-
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu)7249TSC2Uncertain significancers2085894886RCV001061281; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067442106744AG16:g.2106744A>G-
NM_000548.5(TSC2):c.749A>G (p.Lys250Arg)7249TSC2Uncertain significance-1RCV001891849; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067452106745AG2106745-
NM_000548.5(TSC2):c.751G>A (p.Glu251Lys)7249TSC2Uncertain significancers1114167465RCV000530979; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067472106747GANC_000016.9:g.2106747G>AClinGen:CA394312779C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.754C>A (p.Leu252Ile)7249TSC2Uncertain significancers766770734RCV000685902; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067502106750CA16:g.2106750C>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.756C>G (p.Leu252=)7249TSC2Likely benignrs1026303888RCV000943645|RCV001421636; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067522106752CG16:g.2106752C>G-
NM_000548.5(TSC2):c.756C>T (p.Leu252=)7249TSC2Likely benignrs1026303888RCV000937372|RCV001494366; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067522106752CT16:g.2106752C>T-
NM_000548.5(TSC2):c.758G>T (p.Cys253Phe)7249TSC2Uncertain significancers766547457RCV000543169; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067542106754GTNC_000016.9:g.2106754G>TClinGen:CA394312795C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.758G>A (p.Cys253Tyr)7249TSC2Benignrs766547457RCV000917318; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067542106754GA16:g.2106754G>A-
NM_000548.5(TSC2):c.759C>T (p.Cys253=)7249TSC2Conflicting interpretations of pathogenicityrs45517125RCV000467398|RCV001026603|RCV001088133; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067552106755CT16:g.2106755C>TClinGen:CA056333CN169374 not specified;
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys)7249TSC2Benign/Likely benignrs45517126RCV000055452|RCV000190054|RCV000571293|RCV000228440|RCV001531837; NMedGen: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:CN5172021621067562106756GA16:g.2106756G>AClinGen:CA022920,Tuberous sclerosis database (TSC2):TSC2_02053C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.762G>A (p.Glu254=)7249TSC2Likely benign-1RCV001427095; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067582106758GA2106758-
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs)7249TSC2Pathogenicrs1567409292RCV000687442; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067602106761CCTTNC_000016.9:g.2106761_2106762dup-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.764C>A (p.Pro255His)7249TSC2Uncertain significance-1RCV002001425; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067602106760CA2106760-
NM_000548.5(TSC2):c.767G>T (p.Cys256Phe)7249TSC2Uncertain significancers1567409304RCV000706450; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067632106763GT16:g.2106763G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.768C>T (p.Cys256=)7249TSC2Benignrs45517127RCV000555586; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067642106764CTNC_000016.9:g.2106764C>TClinGen:CA056350C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.768C>G (p.Cys256Trp)7249TSC2Uncertain significance-1RCV001915998; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067642106764CG2106764-
NM_000548.5(TSC2):c.769del (p.Trp257fs)7249TSC2Pathogenicrs2085898708RCV001211842; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067652106765CTC16:g.2106765_2106765del-
NM_000548.5(TSC2):c.774+1G>A7249TSC2Pathogenicrs45517128RCV000043186|RCV000423250|RCV001037395; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067712106771GANC_000016.9:g.2106771G>AClinGen:CA022937,Tuberous sclerosis database (TSC2):TSC2_00805
NM_000548.5(TSC2):c.774+3G>C7249TSC2Uncertain significance-1RCV001928384; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067732106773GC2106773-
NM_000548.5(TSC2):c.774+4G>A7249TSC2Benignrs1244859914RCV000531916; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067742106774GANC_000016.9:g.2106774G>AClinGen:CA658658357C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.774+4G>C7249TSC2Uncertain significance-1RCV001902904; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067742106774GC2106774-
NM_000548.5(TSC2):c.774+12G>A7249TSC2Likely benign-1RCV002071584; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067822106782GA2106782-
NM_000548.5(TSC2):c.774+15A>T7249TSC2Likely benign-1RCV002193304; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621067852106785AT2106785-
NM_000548.5(TSC2):c.775-17C>T7249TSC2Likely benignrs137854299RCV000434978|RCV002061548; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070892107089CT16:g.2107089C>TClinGen:CA056417CN169374 not specified;
NM_000548.5(TSC2):c.775-16G>A7249TSC2Likely benign-1RCV002095868; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070902107090GA2107090-
NM_000548.5(TSC2):c.775-14_775-13del7249TSC2Likely benignrs1555499015RCV000608538|RCV002062898; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070922107093CATC16:g.2107092_2107093delClinGen:CA658798476CN169374 not specified;
NM_000548.5(TSC2):c.775-14A>G7249TSC2Likely benign-1RCV002138462; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070922107092AG2107092-
NM_000548.5(TSC2):c.775-12T>C7249TSC2Likely benign-1RCV001649792|RCV002073020; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070942107094TC2107094-
NM_000548.5(TSC2):c.775-10T>G7249TSC2Uncertain significancers1555499018RCV000544379; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070962107096TGNC_000016.9:g.2107096T>GClinGen:CA658658358C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-9G>A7249TSC2Likely benignrs1596280442RCV000938908; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070972107097GA16:g.2107097G>A-
NM_000548.5(TSC2):c.775-9G>C7249TSC2Likely benign-1RCV002216051; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070972107097GC2107097-
NM_000548.5(TSC2):c.775-7C>G7249TSC2Likely benign-1RCV001502385; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621070992107099CG2107099-
NM_000548.5(TSC2):c.775-5C>T7249TSC2Conflicting interpretations of pathogenicityrs181827303RCV000232338|RCV001117342|RCV001086775|RCV001026786; NMedGen:CN517202|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621071012107101CTNC_000016.9:g.2107101C>TClinGen:CA10583285C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-5C>G7249TSC2Likely benignrs181827303RCV000644330; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071012107101CGNC_000016.9:g.2107101C>GClinGen:CA658798477C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.775-4G>A7249TSC2Benign/Likely benignrs754957491RCV000163888|RCV000457384|RCV001657912; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621071022107102GA16:g.2107102G>AClinGen:CA022971C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.775-3C>A7249TSC2Uncertain significancers397514909RCV001205115; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071032107103CA16:g.2107103C>A-
NM_000548.5(TSC2):c.775-1G>A7249TSC2Likely pathogenicrs45454192RCV000043251|RCV001237072; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071052107105GA16:g.2107105G>AClinGen:CA022965,Tuberous sclerosis database (TSC2):TSC2_00158C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.775-1G>C7249TSC2Pathogenicrs45454192RCV001262864; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071052107105GC16:g.2107105G>C-
NM_000548.5(TSC2):c.778A>T (p.Met260Leu)7249TSC2Uncertain significancers2085953921RCV001223777; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071092107109AT16:g.2107109A>T-
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp)7249TSC2Benign/Likely benignrs45517130RCV000042646|RCV000055120|RCV000571475|RCV000841881|RCV001080453; NMedGen: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:8051621071122107112CTNC_000016.9:g.2107112C>TClinGen:CA022976,UniProtKB:P49815#VAR_009419,Tuberous sclerosis database (TSC2):TSC2_00159C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.781C>G (p.Arg261Gly)7249TSC2Uncertain significancers45517130RCV000537091|RCV001026846; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621071122107112CGNC_000016.9:g.2107112C>GClinGen:CA394312974C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln)7249TSC2Conflicting interpretations of pathogenicityrs45502703RCV000190055|RCV000572337|RCV001084043; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071132107113GANC_000016.9:g.2107113G>AClinGen:CA319570
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)7249TSC2Pathogenicrs2085955298RCV001194691; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071132107114GGT16:g.2107113_2107114insT-
NM_000548.5(TSC2):c.782G>T (p.Arg261Leu)7249TSC2Uncertain significance-1RCV001990357; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071132107113GT2107113-
NM_000548.5(TSC2):c.785A>T (p.Asn262Ile)7249TSC2Uncertain significancers2085955900RCV001296545; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071162107116AT2107116-
NM_000548.5(TSC2):c.786C>A (p.Asn262Lys)7249TSC2Uncertain significancers1485087555RCV001302613; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071172107117CA2107117-
NM_000548.5(TSC2):c.786C>T (p.Asn262=)7249TSC2Likely benign-1RCV001418706; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071172107117CT2107117-
NM_000548.5(TSC2):c.787C>T (p.Leu263Phe)7249TSC2Uncertain significance-1RCV002012331; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071182107118CT2107118-
NM_000548.5(TSC2):c.789C>T (p.Leu263=)7249TSC2Likely benign-1RCV001476655; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071202107120CT2107120-
NM_000548.5(TSC2):c.790C>T (p.Leu264Phe)7249TSC2Uncertain significancers2085956949RCV001239986; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071212107121CT16:g.2107121C>T-
NM_000548.5(TSC2):c.793G>A (p.Gly265Ser)7249TSC2Uncertain significancers1567410457RCV000695465; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071242107124GANC_000016.9:g.2107124G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.794G>T (p.Gly265Val)7249TSC2Uncertain significance-1RCV002034388; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071252107125GT2107125-
NM_000548.5(TSC2):c.796A>G (p.Thr266Ala)7249TSC2Uncertain significance-1RCV001361738; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071272107127AG2107127-
NM_000548.5(TSC2):c.798C>A (p.Thr266=)7249TSC2Likely benign-1RCV001487220; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071292107129CA2107129-
NM_000548.5(TSC2):c.802C>T (p.Leu268=)7249TSC2Likely benign-1RCV001424397; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071332107133CT2107133-
NM_000548.5(TSC2):c.802C>G (p.Leu268Val)7249TSC2Uncertain significance-1RCV001987573; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071332107133CG2107133-
NM_000548.5(TSC2):c.803T>G (p.Leu268Arg)7249TSC2Uncertain significancers2085959207RCV001068528; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071342107134TG16:g.2107134T>G-
NM_000548.5(TSC2):c.804G>A (p.Leu268=)7249TSC2Uncertain significance-1RCV001372332; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071352107135GA2107135-
NM_000548.5(TSC2):c.805G>A (p.Gly269Ser)7249TSC2Uncertain significancers1596280654RCV001027127|RCV001043328; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071362107136GA16:g.2107136G>A-
NM_000548.5(TSC2):c.807C>T (p.Gly269=)7249TSC2Benign/Likely benignrs1297815371RCV000545305|RCV000574665|RCV001569675; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621071382107138CTNC_000016.9:g.2107138C>TClinGen:CA492958276C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.807C>A (p.Gly269=)7249TSC2Likely benignrs1297815371RCV000937193|RCV001394052; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071382107138CA16:g.2107138C>A-
NM_000548.5(TSC2):c.810_811dup (p.Ser271fs)7249TSC2Pathogenic-1RCV001384635; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071382107139CCCA2107138-
NM_000548.5(TSC2):c.810C>T (p.His270=)7249TSC2Likely benignrs1596280678RCV000933946; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071412107141CT16:g.2107141C>T-
NM_000548.5(TSC2):c.811A>G (p.Ser271Gly)7249TSC2Uncertain significancers1555499071RCV000557721; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071422107142AGNC_000016.9:g.2107142A>GClinGen:CA394313169C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.813C>T (p.Ser271=)7249TSC2Likely benignrs752676212RCV000644370; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071442107144CTNC_000016.9:g.2107144C>TClinGen:CA056443C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr)7249TSC2Conflicting interpretations of pathogenicityrs373818076RCV000435776|RCV000229042|RCV000570779|RCV001086224; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071452107145GANC_000016.9:g.2107145G>AClinGen:CA056449C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.814G>T (p.Ala272Ser)7249TSC2Uncertain significancers373818076RCV000699437; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071452107145GT16:g.2107145G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.816C>A (p.Ala272=)7249TSC2Likely benignrs917246659RCV000644354; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071472107147CANC_000016.9:g.2107147C>AClinGen:CA492958368C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.816C>T (p.Ala272=)7249TSC2Likely benign-1RCV001418134; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071472107147CT2107147-
NM_000548.5(TSC2):c.816C>G (p.Ala272=)7249TSC2Likely benign-1RCV001435563; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071472107147CG2107147-
NM_000548.5(TSC2):c.817A>G (p.Ile273Val)7249TSC2Uncertain significance-1RCV001372080; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071482107148AG2107148-
NM_000548.5(TSC2):c.820T>G (p.Tyr274Asp)7249TSC2Uncertain significancers367642937RCV000465565; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071512107151TGNC_000016.9:g.2107151T>GClinGen:CA056457C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)7249TSC2Uncertain significancers1305592691RCV000567862|RCV001035509; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071522107152AG16:g.2107152A>GClinGen:CA394313259C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.822C>T (p.Tyr274=)7249TSC2Likely benign-1RCV001433918; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071532107153CT2107153-
NM_000548.5(TSC2):c.826_827del (p.Met276fs)7249TSC2Pathogenicrs137853977RCV000042707|RCV000180518|RCV000312270; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621071572107158CATCNC_000016.9:g.2107157_2107158delClinGen:CA023003,Tuberous sclerosis database (TSC2):TSC2_00131
NM_000548.5(TSC2):c.827T>C (p.Met276Thr)7249TSC2Uncertain significancers1281538226RCV000705751; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071582107158TCNC_000016.9:g.2107158T>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.828G>A (p.Met276Ile)7249TSC2Uncertain significancers1318274503RCV000538015|RCV001779000; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621071592107159GANC_000016.9:g.2107159G>AClinGen:CA394313332C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.828G>T (p.Met276Ile)7249TSC2Uncertain significancers1318274503RCV001049757; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071592107159GT16:g.2107159G>T-
NM_000548.5(TSC2):c.832dup (p.His278fs)7249TSC2Pathogenicrs137854020RCV000042708|RCV000698426; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071612107162GGC16:g.2107161_2107162insCTuberous sclerosis database (TSC2):TSC2_00546,ClinGen:CA023009C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.830G>T (p.Cys277Phe)7249TSC2Uncertain significance-1RCV002024704; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071612107161GT2107161-
NM_000548.5(TSC2):c.831C>G (p.Cys277Trp)7249TSC2Uncertain significancers1057523424RCV000518815|RCV000689830; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071622107162CGNC_000016.9:g.2107162C>GClinGen:CA394313376CN169374 not specified;
NM_000548.5(TSC2):c.832C>T (p.His278Tyr)7249TSC2Uncertain significancers2085965079RCV001297628; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071632107163CT2107163-
NM_000548.5(TSC2):c.833A>G (p.His278Arg)7249TSC2Benign/Likely benignrs397515266RCV000231955|RCV001534673; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621071642107164AGNC_000016.9:g.2107164A>GClinGen:CA10583286C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.834C>T (p.His278=)7249TSC2Likely benignrs1596280873RCV000936857|RCV001418437; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071652107165CT16:g.2107165C>T-
NM_000548.5(TSC2):c.837C>T (p.Leu279=)7249TSC2Benign/Likely benignrs746694709RCV000163951|RCV000838400|RCV001088089; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071682107168CTNC_000016.9:g.2107168C>TClinGen:CA023016C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.838A>G (p.Met280Val)7249TSC2Uncertain significancers1596280903RCV000800713; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071692107169AG16:g.2107169A>G-
NM_000548.5(TSC2):c.844G>T (p.Asp282Tyr)7249TSC2Uncertain significance-1RCV002041512; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071752107175GT2107175-
NM_000548.5(TSC2):c.846C>A (p.Asp282Glu)7249TSC2Uncertain significancers587778734RCV000122220|RCV000550508|RCV001017849; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621071772107177CA16:g.2107177C>AClinGen:CA023019CN169374 not specified;
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly)7249TSC2Uncertain significancers1596280931RCV000824063; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071782107178AG16:g.2107178A>G-
NM_000548.5(TSC2):c.848G>A (p.Arg283Lys)7249TSC2Uncertain significance-1RCV002044155; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071792107179GA2107179-
NM_000548.5(TSC2):c.848+1G>A7249TSC2Pathogenicrs45466296RCV000043189|RCV000190083|RCV000201109; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071802107180GANC_000016.9:g.2107180G>AClinGen:CA023022,Tuberous sclerosis database (TSC2):TSC2_00806
NM_000548.5(TSC2):c.848+5G>A7249TSC2Conflicting interpretations of pathogenicityrs1370989559RCV000526766|RCV001017884; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621071842107184GANC_000016.9:g.2107184G>AClinGen:CA658658340C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.848+8_848+9del7249TSC2Likely benign-1RCV002219003; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071842107185AGTA2107183-
NM_000548.5(TSC2):c.848+7G>A7249TSC2Benignrs45442896RCV000042659|RCV000125706|RCV000205344|RCV000210774|RCV001079837; NMedGen: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:8051621071862107186GA16:g.2107186G>AClinGen:CA023033,Tuberous sclerosis database (TSC2):TSC2_00898C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.848+9G>A7249TSC2Likely benign-1RCV001392508; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071882107188GA2107188-
NM_000548.5(TSC2):c.848+10G>A7249TSC2Likely benign-1RCV001458448; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071892107189GA2107189-
NM_000548.5(TSC2):c.848+12G>A7249TSC2Likely benign-1RCV002213706; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071912107191GA2107191-
NM_000548.5(TSC2):c.848+13G>T7249TSC2Likely benignrs1402619251RCV000602568|RCV002062907; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071922107192GT16:g.2107192G>TClinGen:CA620373205CN169374 not specified;
NM_000548.5(TSC2):c.848+13G>A7249TSC2Likely benign-1RCV002146264; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071922107192GA2107192-
NM_000548.5(TSC2):c.848+19G>A7249TSC2Likely benignrs1044793633RCV000606890|RCV002066879; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071982107198GA16:g.2107198G>AClinGen:CA276774990CN169374 not specified;
NM_000548.5(TSC2):c.848+20C>T7249TSC2Likely benignrs1459744028RCV000613604|RCV002063113; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621071992107199CT16:g.2107199C>TClinGen:CA620373207CN169374 not specified;
NM_000548.5(TSC2):c.848+281C>T7249TSC2Pathogenicrs45517132RCV000043190|RCV000457139|RCV001197516; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621074602107460CT16:g.2107460C>TClinGen:CA023025,Tuberous sclerosis database (TSC2):TSC2_00140C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-19C>T7249TSC2Likely benign-1RCV002100245; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087292108729CT2108729-
NM_000548.5(TSC2):c.849-17C>A7249TSC2Likely benign-1RCV002185989; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087312108731CA2108731-
NM_000548.5(TSC2):c.849-16T>C7249TSC2Likely benign-1RCV002194055; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087322108732TC2108732-
NM_000548.5(TSC2):c.849-13G>A7249TSC2Conflicting interpretations of pathogenicityrs886051787RCV000356020|RCV001545007|RCV001797706; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087352108735GANC_000016.9:g.2108735G>AClinGen:CA10637322C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.849-12G>A7249TSC2Likely benign-1RCV002149654; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087362108736GA2108736-
NC_000016.9:g.(?_2108738)_(2138621_?)dup7249TSC2Uncertain significance-1RCV000815904; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087382138621nana-
NM_000548.5(TSC2):c.849-9dup7249TSC2Conflicting interpretations of pathogenicityrs764626623RCV000864781|RCV001593077; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621087382108739AAC16:g.2108738_2108739insC-
NM_000548.5(TSC2):c.849-10A>T7249TSC2Likely benignrs1596288175RCV000920068; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087382108738AT16:g.2108738A>T-
NC_000016.10:g.(?_2058737)_(2088610_?)dup7249TSC2Uncertain significance-1RCV001031056; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087382138611nana-1-
NC_000016.10:g.(?_2058737)_(2093096_?)del7249TSC2Pathogenic-1RCV001032849; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087382143097nana-1-
NM_000548.5(TSC2):c.849-10A>G7249TSC2Uncertain significancers1596288175RCV001240367; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087382108738AG16:g.2108738A>G-
NM_000548.5(TSC2):c.849-9C>T7249TSC2Likely benign-1RCV001471354; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087392108739CT2108739-
NM_000548.5(TSC2):c.849-8A>G7249TSC2Conflicting interpretations of pathogenicityrs765336852RCV000372838|RCV001079726|RCV001117344; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:8051621087402108740AG16:g.2108740A>GClinGen:CA056570CN169374 not specified;
NM_000548.5(TSC2):c.849-7del7249TSC2Likely benignrs1555499625RCV000534685; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087412108741ACANC_000016.9:g.2108741delClinGen:CA658658341C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-6T>G7249TSC2Conflicting interpretations of pathogenicityrs886038358RCV000245598|RCV001049053; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087422108742TGNC_000016.9:g.2108742T>GClinGen:CA10587222CN169374 not specified;
NC_000016.9:g.(?_2108742)_(2138617_?)dup7249TSC2Uncertain significance-1RCV000644424; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087422138617nana-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-4_849-3del7249TSC2Uncertain significancers1295449344RCV001058067; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087422108743CTTC16:g.2108742_2108743del-
NM_000548.5(TSC2):c.849-4T>C7249TSC2Conflicting interpretations of pathogenicityrs752614339RCV000221547|RCV000644217; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087442108744TC16:g.2108744T>CClinGen:CA056565C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.849-3T>C7249TSC2Uncertain significancers45489591RCV000644159; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087452108745TCNC_000016.9:g.2108745T>CClinGen:CA658798478C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849-1G>A7249TSC2Pathogenic/Likely pathogenicrs45506396RCV000042648|RCV000439973|RCV001039254; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087472108747GANC_000016.9:g.2108747G>AClinGen:CA023038,Tuberous sclerosis database (TSC2):TSC2_00148
NM_000548.5(TSC2):c.849-1G>C7249TSC2Likely pathogenicrs45506396RCV000055302|RCV000660341; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087472108747GC16:g.2108747G>CClinGen:CA023041,Tuberous sclerosis database (TSC2):TSC2_02084C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.849A>C (p.Arg283Ser)7249TSC2Uncertain significancers1596288325RCV000807453; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087482108748AC16:g.2108748A>C-
NM_000548.5(TSC2):c.851C>G (p.Ala284Gly)7249TSC2Uncertain significancers1195702502RCV001305140; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087502108750CG2108750-
NM_000548.5(TSC2):c.851C>T (p.Ala284Val)7249TSC2Uncertain significance-1RCV001991822; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087502108750CT2108750-
NM_000548.5(TSC2):c.852C>T (p.Ala284=)7249TSC2Likely benignrs1555499631RCV000551420; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087512108751CTNC_000016.9:g.2108751C>TClinGen:CA492959538C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.855C>T (p.Tyr285=)7249TSC2Conflicting interpretations of pathogenicityrs794726983RCV000173708|RCV000644400; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087542108754CT16:g.2108754C>TClinGen:CA023053CN169374 not specified;
NM_000548.5(TSC2):c.856A>G (p.Met286Val)7249TSC2Benign/Likely benignrs1800748RCV000043277|RCV000122201|RCV000163382|RCV000713944|RCV001084045; NMedGen: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:8051621087552108755AG16:g.2108755A>GClinGen:CA023055,UniProtKB:P49815#VAR_009421,Tuberous sclerosis database (TSC2):TSC2_00160C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.857T>C (p.Met286Thr)7249TSC2Conflicting interpretations of pathogenicityrs45517136RCV000043278|RCV000421501|RCV000457171|RCV001018037; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621087562108756TC16:g.2108756T>CClinGen:CA023058,UniProtKB:P49815#VAR_009420,Tuberous sclerosis database (TSC2):TSC2_00549CN169374 not specified;
NM_000548.5(TSC2):c.859G>A (p.Glu287Lys)7249TSC2Uncertain significancers397515300RCV000687612; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087582108758GANC_000016.9:g.2108758G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp)7249TSC2Benign/Likely benignrs192567788RCV000231494|RCV001018094|RCV000608375; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693741621087602108760GCNC_000016.9:g.2108760G>CClinGen:CA056597CN169374 not specified;
NM_000548.5(TSC2):c.862G>A (p.Asp288Asn)7249TSC2Uncertain significancers1555499648RCV000644097; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087612108761GANC_000016.9:g.2108761G>AClinGen:CA394315000C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.864C>T (p.Asp288=)7249TSC2Benign/Likely benignrs780887572RCV000471683|RCV001018131; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621087632108763CTNC_000016.9:g.2108763C>TClinGen:CA056607C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.864C>G (p.Asp288Glu)7249TSC2Likely benignrs780887572RCV000644160; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087632108763CGNC_000016.9:g.2108763C>GClinGen:CA276775635C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.865G>A (p.Ala289Thr)7249TSC2Uncertain significancers750060649RCV001045028; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087642108764GA16:g.2108764G>A-
NM_000548.5(TSC2):c.866C>T (p.Ala289Val)7249TSC2Conflicting interpretations of pathogenicityrs755631210RCV000527430|RCV000568400; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621087652108765CTNC_000016.9:g.2108765C>TClinGen:CA056623C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.867G>A (p.Ala289=)7249TSC2Benign/Likely benignrs375163125RCV000218987|RCV000644363|RCV001762472; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621087662108766GA16:g.2108766G>AClinGen:CA056629C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.867G>T (p.Ala289=)7249TSC2Likely benignrs375163125RCV000540165; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087662108766GT16:g.2108766G>TClinGen:CA056638C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.867G>C (p.Ala289=)7249TSC2Likely benign-1RCV002092853; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087662108766GC2108766-
NM_000548.5(TSC2):c.869C>T (p.Pro290Leu)7249TSC2Uncertain significance-1RCV001993634; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087682108768CT2108768-
NM_000548.5(TSC2):c.870C>T (p.Pro290=)7249TSC2Likely benign-1RCV002105570; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087692108769CT2108769-
NM_000548.5(TSC2):c.871C>T (p.Leu291=)7249TSC2Likely benignrs45517137RCV000042651|RCV000928483|RCV001439994; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087702108770CT16:g.2108770C>TClinGen:CA023067,Tuberous sclerosis database (TSC2):TSC2_00048C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.871C>G (p.Leu291Val)7249TSC2Uncertain significance-1RCV002046319; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087702108770CG2108770-
NM_000548.5(TSC2):c.874C>T (p.Leu292=)7249TSC2Likely benignrs1031153520RCV000938039; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087732108773CT16:g.2108773C>T-
NM_000548.5(TSC2):c.878G>A (p.Arg293Lys)7249TSC2Uncertain significance-1RCV002046535; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087772108777GA2108777-
NM_000548.5(TSC2):c.879A>G (p.Arg293=)7249TSC2Conflicting interpretations of pathogenicityrs369222477RCV000870337|RCV001018344|RCV001117345; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:8051621087782108778AG16:g.2108778A>G-
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp)7249TSC2Uncertain significance-1RCV002045836; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087832108783CA2108783-
NM_000548.5(TSC2):c.885C>T (p.Ala295=)7249TSC2Benign/Likely benignrs778296481RCV000610089|RCV001018416|RCV000958380; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087842108784CT16:g.2108784C>TClinGen:CA056646CN169374 not specified;
NM_000548.5(TSC2):c.886G>A (p.Val296Met)7249TSC2Conflicting interpretations of pathogenicityrs747237113RCV000415290|RCV000466469|RCV001197195; NHuman Phenotype Ontology:HP:0009717,MedGen:C1968959|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621087852108785GANC_000016.9:g.2108785G>AClinGen:CA16043501C1968959 Cortical tubers;
NM_000548.5(TSC2):c.886G>T (p.Val296Leu)7249TSC2Uncertain significancers747237113RCV001053883; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087852108785GT16:g.2108785G>T-
NM_000548.5(TSC2):c.894dup (p.Val299fs)7249TSC2Pathogenicrs137854024RCV000043202|RCV001058679; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087872108788GGT16:g.2108787_2108788insTClinGen:CA023085,Tuberous sclerosis database (TSC2):TSC2_00970C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser)7249TSC2Conflicting interpretations of pathogenicityrs747310967RCV000394048|RCV000570041|RCV001089419; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087922108792TC16:g.2108792T>CClinGen:CA056651C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.897G>A (p.Val299=)7249TSC2Uncertain significancers1382139812RCV001215924; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087962108796GA16:g.2108796G>A-
NM_000548.5(TSC2):c.900C>T (p.Gly300=)7249TSC2Uncertain significancers1415187475RCV001224868; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621087992108799CT16:g.2108799C>T-
NM_000548.5(TSC2):c.901A>G (p.Met301Val)7249TSC2Benignrs1356498946RCV000919129|RCV001522508; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088002108800AG16:g.2108800A>G-
NM_000548.5(TSC2):c.901A>C (p.Met301Leu)7249TSC2Uncertain significancers1356498946RCV001340665; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088002108800AC2108800-
NM_000548.5(TSC2):c.902T>C (p.Met301Thr)7249TSC2Uncertain significancers1060500949RCV000467705; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088012108801TCNC_000016.9:g.2108801T>CClinGen:CA16615032C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.909_928del (p.Trp304fs)7249TSC2Pathogenicrs137854012RCV000042664|RCV001852884; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088022108821TGGCTCTCTGGGGAGCCCACCTNC_000016.9:g.2108808_2108827delClinGen:CA023092,Tuberous sclerosis database (TSC2):TSC2_00376
NM_000548.5(TSC2):c.905C>G (p.Ala302Gly)7249TSC2Uncertain significance-1RCV002044720; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088042108804CG2108804-
NM_000548.5(TSC2):c.906T>C (p.Ala302=)7249TSC2Likely benign-1RCV002101532; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088052108805TC2108805-
NM_000548.5(TSC2):c.907C>T (p.Leu303Phe)7249TSC2Uncertain significancers1060500943RCV000468784; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088062108806CTNC_000016.9:g.2108806C>TClinGen:CA16614692C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.907C>A (p.Leu303Ile)7249TSC2Uncertain significancers1060500943RCV000460587; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088062108806CANC_000016.9:g.2108806C>AClinGen:CA16614909C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.907C>G (p.Leu303Val)7249TSC2Uncertain significancers1060500943RCV001300767; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088062108806CG2108806-
NM_000548.5(TSC2):c.909C>T (p.Leu303=)7249TSC2Likely benign-1RCV001462455; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088082108808CT2108808-
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg)7249TSC2Conflicting interpretations of pathogenicityrs397515108RCV000055358|RCV002054888|RCV000795349|RCV001562466; NMedGen: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,O1621088092108809TCNC_000016.9:g.2108809T>CClinGen:CA023104,Tuberous sclerosis database (TSC2):TSC2_01152C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.914del (p.Gly305fs)7249TSC2Pathogenicrs2086233936RCV001066746; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088102108810TGT16:g.2108810_2108810del-
NM_000548.5(TSC2):c.913G>A (p.Gly305Arg)7249TSC2Uncertain significancers1567415674RCV000696255; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088122108812GANC_000016.9:g.2108812G>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.914G>T (p.Gly305Val)7249TSC2Uncertain significance-1RCV001872832; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088132108813GT2108813-
NM_000548.5(TSC2):c.917C>T (p.Ala306Val)7249TSC2Uncertain significancers2086235107RCV001322652; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088162108816CT2108816-
NM_000548.5(TSC2):c.918C>T (p.Ala306=)7249TSC2Likely benign-1RCV001414249; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088172108817CT2108817-
NM_000548.5(TSC2):c.918C>A (p.Ala306=)7249TSC2Likely benign-1RCV002206159; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088172108817CA2108817-
NM_000548.5(TSC2):c.921C>G (p.His307Gln)7249TSC2Uncertain significancers878854121RCV000226468|RCV001550647; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621088202108820CGNC_000016.9:g.2108820C>GClinGen:CA10583287C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.921C>T (p.His307=)7249TSC2Likely benign-1RCV001488619; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088202108820CT2108820-
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)7249TSC2Benignrs201144475RCV000034667|RCV001084556; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088212108821CG16:g.2108821C>GClinGen:CA023120CN517202 not provided;
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp)7249TSC2Conflicting interpretations of pathogenicityrs201144475RCV000732320|RCV000716745|RCV001086904; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088212108821CTNC_000016.9:g.2108821C>TClinGen:CA056666C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.923G>A (p.Arg308Gln)7249TSC2Uncertain significancers1213252028RCV001019063|RCV001342322; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088222108822GA16:g.2108822G>A-
NM_000548.5(TSC2):c.925C>T (p.Leu309Phe)7249TSC2Conflicting interpretations of pathogenicityrs1258567486RCV000528235|RCV001019094|RCV001355181; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621088242108824CTNC_000016.9:g.2108824C>TClinGen:CA394315433C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln)7249TSC2Conflicting interpretations of pathogenicityrs137853986RCV000042653|RCV000189878|RCV000540959|RCV001019098; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621088252108826TCAGNC_000016.9:g.2108825_2108826delinsAGClinGen:CA023128,Tuberous sclerosis database (TSC2):TSC2_00172CN169374 not specified;
NM_000548.5(TSC2):c.926T>A (p.Leu309His)7249TSC2Likely benignrs75348431RCV000935032; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088252108825TA16:g.2108825T>A-
NM_000548.5(TSC2):c.927C>G (p.Leu309=)7249TSC2Likely benignrs79786059RCV000935033|RCV002066143; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088262108826CG16:g.2108826C>G-
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys)7249TSC2Uncertain significancers878854122RCV000229314|RCV001770190; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621088282108828AGNC_000016.9:g.2108828A>GClinGen:CA10583288C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe)7249TSC2Uncertain significancers878854122RCV000699700; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088282108828ATNC_000016.9:g.2108828A>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.935_936del (p.Leu312fs)7249TSC2Pathogenicrs1596288988RCV000853247; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088302108831TTCT16:g.2108830_2108831del-
NM_000548.5(TSC2):c.931T>A (p.Ser311Thr)7249TSC2Uncertain significancers775590764RCV001307299; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088302108830TA2108830-
NM_000548.5(TSC2):c.932C>G (p.Ser311Cys)7249TSC2Uncertain significancers1475672414RCV000819530|RCV001766732; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621088312108831CG16:g.2108831C>G-
NM_000548.5(TSC2):c.932C>T (p.Ser311Phe)7249TSC2Uncertain significancers1475672414RCV001040944; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088312108831CT16:g.2108831C>T-
NM_000548.5(TSC2):c.933T>G (p.Ser311=)7249TSC2Likely benignrs1596289005RCV000977206; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088322108832TG16:g.2108832T>G-
NM_000548.5(TSC2):c.934C>T (p.Leu312Phe)7249TSC2Uncertain significancers755368431RCV000459830|RCV000568871; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621088332108833CTNC_000016.9:g.2108833C>TClinGen:CA16614696C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.936C>G (p.Leu312=)7249TSC2Likely benign-1RCV001501418; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088352108835CG2108835-
NM_000548.5(TSC2):c.936C>T (p.Leu312=)7249TSC2Likely benign-1RCV001480295; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088352108835CT2108835-
NM_000548.5(TSC2):c.937A>T (p.Arg313Trp)7249TSC2Uncertain significancers2086239979RCV001348626; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088362108836AT2108836-
NM_000548.5(TSC2):c.941A>G (p.Asn314Ser)7249TSC2Uncertain significancers878854123RCV000233295; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088402108840AGNC_000016.9:g.2108840A>GClinGen:CA10583289C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu)7249TSC2Conflicting interpretations of pathogenicityrs202082319RCV000166873|RCV000553448|RCV001762388; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621088432108843CT16:g.2108843C>TClinGen:CA023151C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.945G>A (p.Ser315=)7249TSC2Benign/Likely benignrs763948768RCV000253881|RCV001080071|RCV000827270|RCV000571633; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621088442108844GANC_000016.9:g.2108844G>AClinGen:CA056697C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.945G>T (p.Ser315=)7249TSC2Likely benign-1RCV002170978; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088442108844GT2108844-
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln)7249TSC2Conflicting interpretations of pathogenicityrs751490043RCV000226007|RCV001019379|RCV001770191; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621088462108846CA16:g.2108846C>AClinGen:CA056703C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.947C>T (p.Pro316Leu)7249TSC2Uncertain significancers751490043RCV000806808|RCV001772084; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621088462108846CT16:g.2108846C>T-
NM_000548.5(TSC2):c.948G>A (p.Pro316=)7249TSC2Benign/Likely benignrs45517141RCV000042655|RCV000125639|RCV000163422|RCV000756828|RCV001083605; NMedGen: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:8051621088472108847GA16:g.2108847G>AClinGen:CA023155,Tuberous sclerosis database (TSC2):TSC2_00933C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.950C>T (p.Thr317Ile)7249TSC2Uncertain significancers1596289105RCV000817306; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088492108849CT16:g.2108849C>T-
NM_000548.5(TSC2):c.951A>G (p.Thr317=)7249TSC2Benign/Likely benignrs767275578RCV000575710|RCV000980767; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088502108850AGNC_000016.9:g.2108850A>GClinGen:CA056717C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe)7249TSC2Benign/Likely benignrs1060500970RCV000524092|RCV001080775; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088522108852CTNC_000016.9:g.2108852C>TClinGen:CA16614697
NM_000548.5(TSC2):c.955G>A (p.Val319Met)7249TSC2Likely benignrs1432086775RCV000541726; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088542108854GA16:g.2108854G>AClinGen:CA394315689C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.957G>T (p.Val319=)7249TSC2Likely benign-1RCV002197339; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088562108856GT2108856-
NM_000548.5(TSC2):c.960G>A (p.Leu320=)7249TSC2Likely benign-1RCV001472949; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088592108859GA2108859-
NM_000548.5(TSC2):c.962C>T (p.Pro321Leu)7249TSC2Uncertain significance-1RCV001913419; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088612108861CT2108861-
NM_000548.5(TSC2):c.965C>T (p.Ser322Leu)7249TSC2Uncertain significancers1345813917RCV001056626; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088642108864CT16:g.2108864C>T-
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)7249TSC2Pathogenicrs1345813917RCV001194692; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088642108864CA16:g.2108864C>A-
NM_000548.5(TSC2):c.966A>C (p.Ser322=)7249TSC2Likely benign-1RCV001501185; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088652108865AC2108865-
NM_000548.5(TSC2):c.969T>G (p.Phe323Leu)7249TSC2Uncertain significance-1RCV001942723; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088682108868TG2108868-
NM_000548.5(TSC2):c.970T>G (p.Tyr324Asp)7249TSC2Uncertain significancers2086247823RCV001223173; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088692108869TG16:g.2108869T>G-
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter)7249TSC2Pathogenicrs45517143RCV000043213|RCV000462556; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088712108871CA16:g.2108871C>AClinGen:CA023189,Tuberous sclerosis database (TSC2):TSC2_00380C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.972C>T (p.Tyr324=)7249TSC2Likely benign-1RCV002133872; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088712108871CT2108871-
NM_000548.5(TSC2):c.974A>C (p.Gln325Pro)7249TSC2Uncertain significancers2086248990RCV001068976; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088732108873AC16:g.2108873A>C-
NM_000548.5(TSC2):c.975G>C (p.Gln325His)7249TSC2Uncertain significancers1567416259RCV000686042; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088742108874GCNC_000016.9:g.2108874G>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.975+1G>T7249TSC2Pathogenicrs137854200RCV000055163|RCV000989416; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088752108875GT16:g.2108875G>TClinGen:CA023206,Tuberous sclerosis database (TSC2):TSC2_02101C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.975+2T>C7249TSC2Pathogenic-1RCV001387617; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088762108876TC2108876-
NM_000548.5(TSC2):c.975+3A>C7249TSC2Uncertain significancers1131692179RCV000495286; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088772108877ACNC_000016.9:g.2108877A>CClinGen:CA645373024C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.975+5G>C7249TSC2Uncertain significancers45458600RCV000055353|RCV001318607; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088792108879GC16:g.2108879G>CClinGen:CA023209,Tuberous sclerosis database (TSC2):TSC2_02337C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.975+7C>T7249TSC2Conflicting interpretations of pathogenicityrs372463702RCV000429010|RCV000456230; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088812108881CT16:g.2108881C>TClinGen:CA056774CN169374 not specified;
NM_000548.5(TSC2):c.975+7C>A7249TSC2Likely benignrs372463702RCV000932642|RCV001477811; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088812108881CA16:g.2108881C>A-
NM_000548.5(TSC2):c.975+8G>A7249TSC2Benign/Likely benignrs137853984RCV000043156|RCV000428883|RCV000465759|RCV001084437; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088822108882GA16:g.2108882G>AClinGen:CA023213,Tuberous sclerosis database (TSC2):TSC2_01129CN169374 not specified;
NM_000548.5(TSC2):c.975+8G>T7249TSC2Likely benign-1RCV001434810; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088822108882GT2108882-
NM_000548.5(TSC2):c.975+13C>T7249TSC2Benign/Likely benignrs200564575RCV000055149|RCV000250873|RCV001529198|RCV001797619; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088872108887CT16:g.2108887C>TClinGen:CA023198,Tuberous sclerosis database (TSC2):TSC2_02144CN169374 not specified;
NM_000548.5(TSC2):c.975+13C>G7249TSC2Likely benign-1RCV002086261; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088872108887CG2108887-
NM_000548.5(TSC2):c.975+15G>T7249TSC2Likely benign-1RCV002184624; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088892108889GT2108889-
NM_000548.5(TSC2):c.975+15G>A7249TSC2Benign-1RCV002196258; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088892108889GA2108889-
NM_000548.5(TSC2):c.975+16T>C7249TSC2Likely benignrs769084318RCV000604249|RCV002065234; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088902108890TC16:g.2108890T>CClinGen:CA276775749CN169374 not specified;
NM_000548.5(TSC2):c.975+19G>T7249TSC2Likely benign-1RCV002102810; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621088932108893GT2108893-
NM_000548.5(TSC2):c.976-207_1191del7249TSC2Likely pathogenic-1RCV000817383; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621104632111942GGGGTGGGGCCCGTCTGGGTCCTGACTGTGCTGGAGCATGTAGAAACCCCTCCTGGGCGCCCCACCTGCTGTTTCTGCGGCCCCTGATAAACGTGTGGTGGGCACTGCGCG16:g.2110463_2110561del-
NM_000548.5(TSC2):c.976-100C>G7249TSC2Benignrs2074968RCV000834380|RCV001544261; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621105712110571CG16:g.2110571C>G-
NM_000548.5(TSC2):c.976-22_976-6del7249TSC2Likely benign-1RCV001459248; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106452110661TGTGTGCTGGCCGGGCTCT2110644-
NC_000016.9:g.(?_2110651)_(2115656_?)dup7249TSC2Pathogenic-1RCV000708199; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106512115656nana-C1860707 613254 Tuberous sclerosis 2;
NC_000016.9:g.(?_2110651)_(2135343_?)dup7249TSC2Pathogenic-1RCV001958779; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106512135343nana-1-
NM_000548.5(TSC2):c.976-17C>A7249TSC2Likely benign-1RCV002183016; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106542110654CA2110654-
NM_000548.5(TSC2):c.976-16C>T7249TSC2Likely benign-1RCV002098426; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106552110655CT2110655-
NM_000548.5(TSC2):c.976-15G>A7249TSC2Pathogenicrs45517150RCV000042656|RCV000189971|RCV000465503; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106562110656GANC_000016.9:g.2110656G>AClinGen:CA023219,Tuberous sclerosis database (TSC2):TSC2_00184
NC_000016.9:g.(?_2110656)_(2115646_?)del7249TSC2Pathogenic-1RCV002037687; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106562115646nana-1-
NM_000548.5(TSC2):c.976-14G>C7249TSC2Likely benign-1RCV002096082; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106572110657GC2110657-
NM_000548.5(TSC2):c.976-12C>T7249TSC2Uncertain significance-1RCV001903472; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106592110659CT2110659-
NM_000548.5(TSC2):c.976-10C>T7249TSC2Benign/Likely benignrs765990217RCV000554329|RCV001566191; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621106612110661CTNC_000016.9:g.2110661C>TClinGen:CA056787C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.976-10C>G7249TSC2Uncertain significance-1RCV002014261; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106612110661CG2110661-
NM_000548.5(TSC2):c.976-9G>A7249TSC2Likely benignrs367613848RCV000530490; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106622110662GANC_000016.9:g.2110662G>AClinGen:CA276776556C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.976-8T>C7249TSC2Likely benign-1RCV001458557; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106632110663TC2110663-
NM_000548.5(TSC2):c.976-6T>A7249TSC2Uncertain significancers2086516048RCV001057021; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106652110665TA16:g.2110665T>A-
NC_000016.9:g.(?_2110665)_(2113060_?)del7249TSC2Likely pathogenic-1RCV001378862; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106652113060nana-1-
NM_000548.5(TSC2):c.976-5T>A7249TSC2Uncertain significancers2086516322RCV001050768; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106662110666TA16:g.2110666T>A-
NM_000548.5(TSC2):c.976-5T>C7249TSC2Uncertain significance-1RCV001887536; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106662110666TC2110666-
NM_000548.5(TSC2):c.976-3del7249TSC2Uncertain significance-1RCV001953099; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106672110667TCT2110666-
NM_000548.5(TSC2):c.976-3C>T7249TSC2Benign/Likely benignrs45517151RCV000423847|RCV000461016|RCV000560939; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621106682110668CT16:g.2110668C>TClinGen:CA056833C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.976-1G>A7249TSC2Pathogenicrs45451199RCV000042657|RCV000644206; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106702110670GA16:g.2110670G>AClinGen:CA023222,Tuberous sclerosis database (TSC2):TSC2_00123C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)7249TSC2Pathogenicrs397515176RCV000055463|RCV001250504; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106732110674CCAT16:g.2110673_2110674insATClinGen:CA023242,Tuberous sclerosis database (TSC2):TSC2_02414C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.978C>G (p.Ala326=)7249TSC2Likely benignrs1294670888RCV000936413; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106732110673CG16:g.2110673C>G-
NM_000548.5(TSC2):c.979dup (p.Met327fs)7249TSC2Pathogenic-1RCV001939583; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106732110674CCA2110673-
NM_000548.5(TSC2):c.979A>G (p.Met327Val)7249TSC2Uncertain significancers754596133RCV001304690; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106742110674AG2110674-
NM_000548.5(TSC2):c.985T>C (p.Cys329Arg)7249TSC2Uncertain significancers2086518199RCV001067062; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106802110680TC16:g.2110680T>C-
NM_000548.5(TSC2):c.985T>A (p.Cys329Ser)7249TSC2Uncertain significance-1RCV001955854; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106802110680TA2110680-
NM_000548.5(TSC2):c.986G>A (p.Cys329Tyr)7249TSC2Uncertain significancers2086518389RCV001309444; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106812110681GA2110681-
NM_000548.5(TSC2):c.987T>A (p.Cys329Ter)7249TSC2Pathogenic-1RCV001824268; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106822110682TA2110682-
NM_000548.5(TSC2):c.988C>T (p.Pro330Ser)7249TSC2Uncertain significance-1RCV001962776; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106832110683CT2110683-
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu)7249TSC2Benign/Likely benignrs140910086RCV000468416|RCV000566116|RCV001557290; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621106842110684CTNC_000016.9:g.2110684C>TClinGen:CA056877C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.989_990delinsGA (p.Pro330Arg)7249TSC2Uncertain significancers2086518574RCV001042508; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106842110685CGGANC_000016.9:g.2110684_2110685delinsGA-
NM_000548.5(TSC2):c.990G>A (p.Pro330=)7249TSC2Benign/Likely benignrs752141469RCV000839183|RCV001019883|RCV001088773; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106852110685GANC_000016.9:g.2110685G>AClinGen:CA056881C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.990_991delinsAT (p.Asn331Tyr)7249TSC2Uncertain significancers2086518981RCV001228437; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106852110686GAATNC_000016.9:g.2110685_2110686delinsAT-
NM_000548.5(TSC2):c.991A>G (p.Asn331Asp)7249TSC2Uncertain significancers1060500974RCV000474153; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106862110686AGNC_000016.9:g.2110686A>GClinGen:CA16614698C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.993C>T (p.Asn331=)7249TSC2Benign/Likely benignrs45517153RCV000043236|RCV000950328|RCV001019915; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621106882110688CT16:g.2110688C>TClinGen:CA023251,Tuberous sclerosis database (TSC2):TSC2_00187C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.993del (p.Asn331fs)7249TSC2Pathogenicrs1596298137RCV000793048; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106882110688ACA16:g.2110688_2110688del-
NM_000548.5(TSC2):c.994G>A (p.Glu332Lys)7249TSC2Benignrs911600402RCV000559621; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106892110689GANC_000016.9:g.2110689G>AClinGen:CA276776600C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.996G>A (p.Glu332=)7249TSC2Likely benignrs757788971RCV000644359; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106912110691GANC_000016.9:g.2110691G>AClinGen:CA056886C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.996G>C (p.Glu332Asp)7249TSC2Uncertain significancers757788971RCV001019949|RCV001369524; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106912110691GC16:g.2110691G>C-
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)7249TSC2Uncertain significancers1336741146RCV000531279; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106922110692GTNC_000016.9:g.2110692G>TClinGen:CA394317320C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.997G>A (p.Val333Met)7249TSC2Uncertain significancers1336741146RCV001317396; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106922110692GA2110692-
NM_000548.5(TSC2):c.999G>A (p.Val333=)7249TSC2Likely benign-1RCV001402541; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106942110694GA2110694-
NM_000548.5(TSC2):c.999G>T (p.Val333=)7249TSC2Likely benign-1RCV001408471; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106942110694GT2110694-
NM_000548.5(TSC2):c.1000G>A (p.Val334Met)7249TSC2Uncertain significancers2086521360RCV001298361; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106952110695GA2110695-
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala)7249TSC2Likely pathogenicrs45484892RCV000055437|RCV001730486; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106962110696TC16:g.2110696T>CClinGen:CA013517,Tuberous sclerosis database (TSC2):TSC2_02014C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys)7249TSC2Uncertain significancers45517144RCV000042915|RCV000202762; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621106992110699CG16:g.2110699C>GClinGen:CA013535,Tuberous sclerosis database (TSC2):TSC2_00738C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1004C>T (p.Ser335Phe)7249TSC2Uncertain significancers45517144RCV000694942|RCV001009666; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621106992110699CTNC_000016.9:g.2110699C>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1005C>T (p.Ser335=)7249TSC2Likely benignrs397514924RCV000925362; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107002110700CT16:g.2110700C>T-
NM_000548.5(TSC2):c.1006T>C (p.Tyr336His)7249TSC2Uncertain significancers2086522579RCV001203548; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107012110701TC16:g.2110701T>C-
NM_000548.5(TSC2):c.1007A>G (p.Tyr336Cys)7249TSC2Likely benignrs780378198RCV000644115; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107022110702AG16:g.2110702A>GClinGen:CA027968C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1007A>T (p.Tyr336Phe)7249TSC2Uncertain significancers780378198RCV000802339; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107022110702AT16:g.2110702A>T-
NM_000548.5(TSC2):c.1010A>T (p.Glu337Val)7249TSC2Uncertain significancers1596298246RCV000792383; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107052110705AT16:g.2110705A>T-
NM_000548.5(TSC2):c.1014C>G (p.Ile338Met)7249TSC2Uncertain significancers1250621196RCV001017000|RCV001351709; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107092110709CG16:g.2110709C>G-
NM_000548.5(TSC2):c.1014C>T (p.Ile338=)7249TSC2Likely benign-1RCV001436285; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107092110709CT2110709-
NM_000548.5(TSC2):c.1015G>A (p.Val339Ile)7249TSC2Conflicting interpretations of pathogenicityrs559727962RCV000644222|RCV001017006; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621107102110710GANC_000016.9:g.2110710G>AClinGen:CA276776626C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1015G>C (p.Val339Leu)7249TSC2Uncertain significancers559727962RCV000700341; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107102110710GCNC_000016.9:g.2110710G>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1018C>T (p.Leu340=)7249TSC2Likely benign-1RCV001456067; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107132110713CT2110713-
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro)7249TSC2Uncertain significancers397515192RCV000055485|RCV001221077; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107142110714TC16:g.2110714T>CClinGen:CA013603,Tuberous sclerosis database (TSC2):TSC2_02015C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1022C>T (p.Ser341Phe)7249TSC2Uncertain significancers2086524884RCV001051063; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107172110717CT16:g.2110717C>T-
NM_000548.5(TSC2):c.1025_1027del (p.Ile342del)7249TSC2Uncertain significancers2086525255RCV001303277; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107182110720CCATC2110717-
NM_000548.5(TSC2):c.1023C>T (p.Ser341=)7249TSC2Likely benign-1RCV001437030; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107182110718CT2110718-
NM_000548.5(TSC2):c.1024A>G (p.Ile342Val)7249TSC2Uncertain significancers1060500913RCV000458703; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107192110719AGNC_000016.9:g.2110719A>GClinGen:CA16614648C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1029C>A (p.Thr343=)7249TSC2Benign/Likely benignrs45468201RCV000457035|RCV001017062|RCV001718884; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621107242110724CA16:g.2110724C>AClinGen:CA028015CN169374 not specified;
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe)7249TSC2Conflicting interpretations of pathogenicityrs397515146RCV000055413|RCV000539242|RCV001355778|RCV000765261; NMedGen: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:C075161621107282110728CT16:g.2110728C>TClinGen:CA013622,Tuberous sclerosis database (TSC2):TSC2_02338C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1035C>A (p.Leu345=)7249TSC2Likely benignrs1476429068RCV000539905; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107302110730CANC_000016.9:g.2110730C>AClinGen:CA492960816C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1035C>T (p.Leu345=)7249TSC2Likely benignrs1476429068RCV000942715|RCV001473794; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107302110730CT16:g.2110730C>T-
NM_000548.5(TSC2):c.1036A>G (p.Ile346Val)7249TSC2Uncertain significancers768760795RCV000462431; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107312110731AGNC_000016.9:g.2110731A>GClinGen:CA16615037C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1036A>T (p.Ile346Phe)7249TSC2Uncertain significancers768760795RCV000802563; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107312110731AT16:g.2110731A>T-
NM_000548.5(TSC2):c.1038C>G (p.Ile346Met)7249TSC2Uncertain significancers2086528091RCV001223551; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107332110733CG16:g.2110733C>G-
NM_000548.5(TSC2):c.1038C>T (p.Ile346=)7249TSC2Likely benign-1RCV002145941; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107332110733CT2110733-
NM_000548.5(TSC2):c.1039A>G (p.Lys347Glu)7249TSC2Uncertain significancers1337295642RCV001017111|RCV001860852; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107342110734AG16:g.2110734A>G-
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg)7249TSC2Conflicting interpretations of pathogenicityrs367963898RCV000055159|RCV000205714|RCV001009773|RCV001079443; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107352110735AG16:g.2110735A>GClinGen:CA013642,Tuberous sclerosis database (TSC2):TSC2_02339C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1044G>A (p.Lys348=)7249TSC2Likely benign-1RCV001490210; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107392110739GA2110739-
NM_000548.5(TSC2):c.1045T>C (p.Tyr349His)7249TSC2Uncertain significancers2086529367RCV001350728; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107402110740TC2110740-
NM_000548.5(TSC2):c.1046A>G (p.Tyr349Cys)7249TSC2Likely benignrs1060500916RCV000460360; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107412110741AGNC_000016.9:g.2110741A>GClinGen:CA16614703C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter)7249TSC2Pathogenicrs1555500535RCV000644182; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107412110742AAT16:g.2110741_2110742insTClinGen:CA658798483C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1046A>T (p.Tyr349Phe)7249TSC2Uncertain significancers1060500916RCV001044494; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107412110741AT16:g.2110741A>T-
NM_000548.5(TSC2):c.1047T>C (p.Tyr349=)7249TSC2Likely benignrs1042628888RCV000553855; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107422110742TCNC_000016.9:g.2110742T>CClinGen:CA276776646C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1048A>T (p.Arg350Trp)7249TSC2Uncertain significance-1RCV002023029; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107432110743AT2110743-
NM_000548.5(TSC2):c.1049G>A (p.Arg350Lys)7249TSC2Uncertain significancers1567423240RCV001751427|RCV001222189; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107442110744GA16:g.2110744G>A-
NM_000548.5(TSC2):c.1050G>A (p.Arg350=)7249TSC2Likely benign-1RCV001447210; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107452110745GA2110745-
NM_000548.5(TSC2):c.1051A>G (p.Lys351Glu)7249TSC2Uncertain significancers2086530884RCV001318933; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107462110746AG2110746-
NM_000548.5(TSC2):c.1052A>G (p.Lys351Arg)7249TSC2Conflicting interpretations of pathogenicityrs748109163RCV000564908|RCV000802991; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107472110747AGNC_000016.9:g.2110747A>GClinGen:CA028047C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1053G>A (p.Lys351=)7249TSC2Likely benign-1RCV002094531; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107482110748GA2110748-
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys)7249TSC2Uncertain significancers1596298442RCV000823559|RCV001118949; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:8051621107492110749GA16:g.2110749G>A-
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val)7249TSC2Uncertain significancers902767624RCV000807265; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107522110752CG16:g.2110752C>G-
NM_000548.5(TSC2):c.1057C>T (p.Leu353Phe)7249TSC2Uncertain significancers902767624RCV001035915; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107522110752CT16:g.2110752C>T-
NM_000548.5(TSC2):c.1058T>C (p.Leu353Pro)7249TSC2Uncertain significance-1RCV001914315; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107532110753TC2110753-
NM_000548.5(TSC2):c.1059C>T (p.Leu353=)7249TSC2Benign/Likely benignrs796053472RCV000189879|RCV000935555; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107542110754CTNC_000016.9:g.2110754C>TClinGen:CA319339CN169374 not specified;
NM_000548.5(TSC2):c.1059C>A (p.Leu353=)7249TSC2Likely benign-1RCV001466504; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107542110754CA2110754-
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter)7249TSC2Pathogenicrs45469896RCV000042918|RCV000713913|RCV001382877; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107552110755CT16:g.2110755C>TClinGen:CA013658,Tuberous sclerosis database (TSC2):TSC2_00768C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1062G>A (p.Gln354=)7249TSC2Likely benignrs771943476RCV000936732|RCV001474671; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107572110757GA16:g.2110757G>A-
NM_000548.5(TSC2):c.1062G>C (p.Gln354His)7249TSC2Uncertain significancers771943476RCV001223970; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107572110757GC16:g.2110757G>C-
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu)7249TSC2Benign/Likely benignrs587778728RCV000122203|RCV000471776|RCV000561439|RCV001537839; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621107612110761GC16:g.2110761G>CClinGen:CA013667C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1068G>A (p.Val356=)7249TSC2Likely benign-1RCV002186908; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107632110763GA2110763-
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val)7249TSC2Conflicting interpretations of pathogenicityrs150195368RCV000034641|RCV000055595|RCV000122202|RCV000163628|RCV000230505|RCV000714826|RCV001770048; NMedGen: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:00111621107652110765CT16:g.2110765C>TClinGen:CA013675,Tuberous sclerosis database (TSC2):TSC2_02016C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1070C>A (p.Ala357Glu)7249TSC2Uncertain significancers150195368RCV001349248; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107652110765CA2110765-
NM_000548.5(TSC2):c.1071G>A (p.Ala357=)7249TSC2Benign/Likely benignrs776395163RCV000234437|RCV000603071; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621107662110766GA16:g.2110766G>AClinGen:CA028111CN169374 not specified;
NM_000548.5(TSC2):c.1074G>A (p.Trp358Ter)7249TSC2Pathogenic-1RCV001387519; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107692110769GA2110769-
NM_000548.5(TSC2):c.1075G>A (p.Asp359Asn)7249TSC2Uncertain significancers2086534058RCV001349938; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107702110770GA2110770-
NM_000548.5(TSC2):c.1077C>T (p.Asp359=)7249TSC2Benign/Likely benignrs1555500558RCV000613470|RCV001460382; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107722110772CT16:g.2110772C>TClinGen:CA492961043CN169374 not specified;
NM_000548.5(TSC2):c.1078A>G (p.Ile360Val)7249TSC2Uncertain significancers1555500560RCV000532295; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107732110773AG16:g.2110773A>GClinGen:CA394318052C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1080T>G (p.Ile360Met)7249TSC2Uncertain significancers2086534827RCV001244927; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107752110775TG16:g.2110775T>G-
NM_000548.5(TSC2):c.1080T>C (p.Ile360=)7249TSC2Likely benign-1RCV001487305; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107752110775TC2110775-
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)7249TSC2Conflicting interpretations of pathogenicityrs796053483RCV000189974|RCV000754678|RCV000812345; NMedGen:CN517202|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107762110776CGNC_000016.9:g.2110776C>GClinGen:CA319427CN517202 not provided;
NM_000548.5(TSC2):c.1083G>A (p.Leu361=)7249TSC2Benign/Likely benignrs1057524138RCV000426721|RCV000644375; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107782110778GA16:g.2110778G>AClinGen:CA16607139CN169374 not specified;
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro)7249TSC2Likely pathogenicrs137854345RCV000042395|RCV000413741|RCV001065226; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107802110780TC16:g.2110780T>CClinGen:CA013704,Tuberous sclerosis database (TSC2):TSC2_01077CN517202 not provided;
NM_000548.5(TSC2):c.1086G>A (p.Leu362=)7249TSC2Likely benign-1RCV001426759; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107812110781GA2110781-
NM_000548.5(TSC2):c.1086G>C (p.Leu362=)7249TSC2Likely benign-1RCV002099384; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107812110781GC2110781-
NM_000548.5(TSC2):c.1088A>G (p.Asn363Ser)7249TSC2Uncertain significancers1567423658RCV000697533; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107832110783AG16:g.2110783A>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1088A>T (p.Asn363Ile)7249TSC2Uncertain significancers1567423658RCV000701871; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107832110783AT16:g.2110783A>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1090A>G (p.Ile364Val)7249TSC2Uncertain significancers2086536512RCV001212777; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107852110785AG16:g.2110785A>G-
NM_000548.5(TSC2):c.1092C>T (p.Ile364=)7249TSC2Likely benign-1RCV001502847; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107872110787CT2110787-
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val)7249TSC2Conflicting interpretations of pathogenicityrs370403197RCV000493232|RCV001064683; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107882110788AGNC_000016.9:g.2110788A>GClinGen:CA028137
NM_000548.5(TSC2):c.1095C>T (p.Ile365=)7249TSC2Conflicting interpretations of pathogenicityrs757135168RCV000163999|RCV000227075|RCV001118950|RCV001548088; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621107902110790CT16:g.2110790C>TClinGen:CA013749C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1095C>G (p.Ile365Met)7249TSC2Uncertain significancers757135168RCV001224443; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107902110790CG16:g.2110790C>G-
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)7249TSC2Pathogenicrs45517148RCV000042986|RCV000055263|RCV000497801|RCV001194675; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107912110791GTNC_000016.9:g.2110791G>TClinGen:CA013758,Tuberous sclerosis database (TSC2):TSC2_00383,OMIM:191092.0010
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)7249TSC2Conflicting interpretations of pathogenicityrs45517148RCV000230966|RCV000568549|RCV001118951|RCV001721235; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172021621107912110791GANC_000016.9:g.2110791G>AClinGen:CA028150C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln)7249TSC2Uncertain significancers45517148RCV000644146; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107912110791GC16:g.2110791G>CClinGen:CA276776700C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)7249TSC2Uncertain significancers757844109RCV000993364|RCV001319370; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107942110794CT16:g.2110794C>T-
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)7249TSC2Benignrs1800725RCV000034642|RCV000054867|RCV000118696|RCV000129200|RCV000203922; NMedGen: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:8051621107952110795GA16:g.2110795G>AClinGen:CA013779,UniProtKB:P49815#VAR_009428,Tuberous sclerosis database (TSC2):TSC2_00163C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro)7249TSC2Uncertain significancers1800725RCV000055059|RCV000805573; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107952110795GCNC_000016.9:g.2110795G>CClinGen:CA013788,Tuberous sclerosis database (TSC2):TSC2_02147C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1100G>T (p.Arg367Leu)7249TSC2Uncertain significancers1800725RCV001325034; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107952110795GT2110795-
NM_000548.5(TSC2):c.1101G>C (p.Arg367=)7249TSC2Benign/Likely benignrs45517149RCV000835205|RCV001079352; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107962110796GCNC_000016.9:g.2110796G>CClinGen:CA492961117C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1102C>T (p.Leu368Phe)7249TSC2Uncertain significancers1567423904RCV000687056; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107972110797CTNC_000016.9:g.2110797C>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1104C>T (p.Leu368=)7249TSC2Likely benign-1RCV002199756; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621107992110799CT2110799-
NM_000548.5(TSC2):c.1105C>A (p.Leu369Ile)7249TSC2Uncertain significancers1195544121RCV001295897; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108002110800CA2110800-
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)7249TSC2Pathogenicrs1596298721RCV000801770; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108032110803CT16:g.2110803C>T-
NM_000548.5(TSC2):c.1110G>A (p.Gln370=)7249TSC2Benignrs1800742RCV000042396|RCV000118697|RCV000163259|RCV000204769|RCV000586320; NMedGen: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:CN5172021621108052110805GA16:g.2110805G>AClinGen:CA013804,Tuberous sclerosis database (TSC2):TSC2_00164C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter)7249TSC2Pathogenicrs45469099RCV000042397|RCV000644081|RCV000760655; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621108062110806CTNC_000016.9:g.2110806C>TClinGen:CA013813,Tuberous sclerosis database (TSC2):TSC2_00308
NM_000548.5(TSC2):c.1113G>C (p.Gln371His)7249TSC2Uncertain significancers571767462RCV001234320; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108082110808GC16:g.2110808G>C-
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro)7249TSC2Conflicting interpretations of pathogenicityrs1060500919RCV000457917|RCV001017372; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621108102110810TCNC_000016.9:g.2110810T>CClinGen:CA16614653C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1116C>T (p.Leu372=)7249TSC2Benignrs587780973RCV000125642|RCV000906969; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108112110811CTNC_000016.9:g.2110811C>TClinGen:CA013818CN169374 not specified;
NM_000548.5(TSC2):c.1117C>A (p.Gln373Lys)7249TSC2Uncertain significance-1RCV001370575; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108122110812CA2110812-
NM_000548.5(TSC2):c.1118A>G (p.Gln373Arg)7249TSC2Uncertain significancers397515131RCV000691479; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108132110813AG16:g.2110813A>G-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+1G>C7249TSC2Pathogenicrs45475793RCV000512714; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108152110815GCNC_000016.9:g.2110815G>CClinGen:CA394318489C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+3G>C7249TSC2Uncertain significancers79668097RCV000797499|RCV001017389; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621108172110817GC16:g.2110817G>C-
NM_000548.5(TSC2):c.1119+3G>A7249TSC2Uncertain significancers79668097RCV001235325; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108172110817GA16:g.2110817G>A-
NM_000548.5(TSC2):c.1119+6_1119+28del7249TSC2Conflicting interpretations of pathogenicityrs1358834036RCV000553261|RCV000842441; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621108192110841GGGTGGGGGCAGGAGCTCCGGGGAGNC_000016.9:g.2110820_2110842delClinGen:CA658658349
NM_000548.5(TSC2):c.1119+5G>T7249TSC2Uncertain significancers2086542949RCV001233472; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108192110819GT16:g.2110819G>T-
NM_000548.5(TSC2):c.1119+5G>C7249TSC2Uncertain significance-1RCV001363053; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108192110819GC2110819-
NM_000548.5(TSC2):c.1119+6G>C7249TSC2Benign/Likely benignrs397515305RCV000055151|RCV001084211|RCV000644331; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621108202110820GC16:g.2110820G>CClinGen:CA013868,Tuberous sclerosis database (TSC2):TSC2_02149C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+6G>A7249TSC2Uncertain significancers397515305RCV000811629; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108202110820GA16:g.2110820G>A-
NM_000548.5(TSC2):c.1119+6G>T7249TSC2Uncertain significance-1RCV002036730; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108202110820GT2110820-
NM_000548.5(TSC2):c.1119+12dup7249TSC2Benignrs750078037RCV000463240; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108212110822TTG16:g.2110821_2110822insGClinGen:CA7828381C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1119+8G>T7249TSC2Likely benignrs1377444061RCV000936678; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108222110822GT16:g.2110822G>T-
NM_000548.5(TSC2):c.1119+8G>C7249TSC2Likely benign-1RCV002173757; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108222110822GC2110822-
NM_000548.5(TSC2):c.1119+9G>A7249TSC2Likely benign-1RCV001460211; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108232110823GA2110823-
NM_000548.5(TSC2):c.1119+9G>T7249TSC2Likely benign-1RCV002153219; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108232110823GT2110823-
NM_000548.5(TSC2):c.1119+10G>C7249TSC2Likely benign-1RCV001439754; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108242110824GC2110824-
NM_000548.5(TSC2):c.1119+11G>T7249TSC2Likely benign-1RCV002211768; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108252110825GT2110825-
NM_000548.5(TSC2):c.1119+11G>C7249TSC2Likely benign-1RCV002080860; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108252110825GC2110825-
NM_000548.5(TSC2):c.1119+20_1119+29del7249TSC2Likely benign-1RCV002137337; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108292110838AGGAGCTCCGGA2110828-
NM_000548.5(TSC2):c.1119+19C>G7249TSC2Uncertain significance-1RCV002046732; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108332110833CG2110833-
NM_000548.5(TSC2):c.1119+19C>T7249TSC2Likely benign-1RCV002147173; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621108332110833CT2110833-
NM_000548.5(TSC2):c.1120-93T>C7249TSC2Benignrs17135764RCV000042398|RCV001544262; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621117792111779TC16:g.2111779T>CTuberous sclerosis database (TSC2):TSC2_01025,ClinGen:CA013876CN517202 not provided;
NM_000548.5(TSC2):c.1120-20C>T7249TSC2Likely benign-1RCV002154299; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118522111852CT2111852-
NM_000548.5(TSC2):c.1120-17C>T7249TSC2Benign/Likely benignrs201704675RCV000418429|RCV000514106|RCV001797716; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118552111855CT16:g.2111855C>TClinGen:CA028457CN517202 not provided;
NM_000548.5(TSC2):c.1120-16G>A7249TSC2Likely benignrs768241936RCV000424679|RCV002059656; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118562111856GA16:g.2111856G>AClinGen:CA028444CN169374 not specified;
NM_000548.5(TSC2):c.1120-10G>A7249TSC2Uncertain significance-1RCV001948748; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118622111862GA2111862-
NM_000548.5(TSC2):c.1120-9G>C7249TSC2Likely benign-1RCV001494031; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118632111863GC2111863-
NM_000548.5(TSC2):c.1120-5dup7249TSC2Likely benignrs1555500983RCV000644287; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118662111867CCTNC_000016.9:g.2111867dupClinGen:CA658798485C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1120-6C>T7249TSC2Likely benignrs1327886668RCV000892289|RCV001411720; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118662111866CT16:g.2111866C>T-
NM_000548.5(TSC2):c.1120-5T>C7249TSC2Conflicting interpretations of pathogenicityrs896351318RCV000562514|RCV002060415; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118672111867TCNC_000016.9:g.2111867T>CClinGen:CA658658350C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1120-3C>T7249TSC2Uncertain significancers1349958011RCV001208996; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118692111869CT16:g.2111869C>T-
NM_000548.5(TSC2):c.1120-1del7249TSC2Likely pathogenicrs2086678681RCV001037962; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118712111871AGA16:g.2111871_2111871del-
NM_000548.5(TSC2):c.1121C>G (p.Thr374Ser)7249TSC2Uncertain significancers1440918649RCV000531383; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118732111873CG16:g.2111873C>GClinGen:CA394319747C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1126G>A (p.Asp376Asn)7249TSC2Uncertain significancers1060500976RCV000467319; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118782111878GANC_000016.9:g.2111878G>AClinGen:CA16614706C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1128C>T (p.Asp376=)7249TSC2Likely benignrs1183791367RCV000926801|RCV001503737; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118802111880CT16:g.2111880C>T-
NM_000548.5(TSC2):c.1130G>A (p.Ser377Asn)7249TSC2Uncertain significancers2086680090RCV001340438; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118822111882GA2111882-
NM_000548.5(TSC2):c.1131C>T (p.Ser377=)7249TSC2Benign/Likely benignrs201525586RCV000189882|RCV000234051|RCV000573673; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621118832111883CT16:g.2111883C>TClinGen:CA028548C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1131C>G (p.Ser377Arg)7249TSC2Uncertain significancers201525586RCV001298879; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118832111883CG2111883-
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)7249TSC2Pathogenicrs2086680808RCV001194676; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118842111885CCCGGA16:g.2111884_2111885insCGGA-
NM_000548.5(TSC2):c.1132C>G (p.Pro378Ala)7249TSC2Uncertain significance-1RCV001965126; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118842111884CG2111884-
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu)7249TSC2Conflicting interpretations of pathogenicityrs45517154RCV000043432|RCV000572792|RCV000842561|RCV001084867; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118852111885CTNC_000016.9:g.2111885C>TClinGen:CA013884,UniProtKB:P49815#VAR_009429,Tuberous sclerosis database (TSC2):TSC2_00165C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1133C>G (p.Pro378Arg)7249TSC2Uncertain significancers45517154RCV000228935|RCV001009957|RCV001335403|RCV001770189; NMONDO: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:CN5172021621118852111885CGNC_000016.9:g.2111885C>GClinGen:CA10583290C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1134G>A (p.Pro378=)7249TSC2Conflicting interpretations of pathogenicityrs754343186RCV000310144|RCV001079274; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118862111886GA16:g.2111886G>AClinGen:CA028565CN169374 not specified;
NM_000548.5(TSC2):c.1137G>A (p.Glu379=)7249TSC2Likely benignrs1057519260RCV000415690; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118892111889GANC_000016.9:g.2111889G>AClinGen:CA16043998C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1138C>T (p.Leu380Phe)7249TSC2Uncertain significance-1RCV002007673; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118902111890CT2111890-
NM_000548.5(TSC2):c.1141A>G (p.Arg381Gly)7249TSC2Uncertain significance-1RCV002029006; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118932111893AG2111893-
NM_000548.5(TSC2):c.1142G>T (p.Arg381Met)7249TSC2Uncertain significance-1RCV001901249; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118942111894GT2111894-
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)7249TSC2Conflicting interpretations of pathogenicityrs45517155RCV000042928|RCV000234777|RCV000246218|RCV000560947|RCV001083136|RCV001770061; NMedGen: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,Orph1621118952111895GA16:g.2111895G>AClinGen:CA013938,Tuberous sclerosis database (TSC2):TSC2_00124C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1144A>T (p.Thr382Ser)7249TSC2Uncertain significancers2086683040RCV001245281; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118962111896AT16:g.2111896A>T-
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs)7249TSC2Pathogenicrs1567428094RCV000685591; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118972111898ACCA16:g.2111897_2111898del-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile)7249TSC2Uncertain significancers758511419RCV000732364|RCV000761152|RCV001797789; NMedGen:CN517202|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118972111897CTNC_000016.9:g.2111897C>T-
NM_000548.5(TSC2):c.1146C>A (p.Thr382=)7249TSC2Benign/Likely benignrs887128869RCV000915201|RCV001017458; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621118982111898CA16:g.2111898C>A-
NM_000548.5(TSC2):c.1146C>T (p.Thr382=)7249TSC2Likely benign-1RCV002217876; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621118982111898CT2111898-
NM_000548.5(TSC2):c.1149C>G (p.Ile383Met)7249TSC2Uncertain significancers764246333RCV001036197; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119012111901CG16:g.2111901C>G-
NM_000548.5(TSC2):c.1149C>T (p.Ile383=)7249TSC2Likely benign-1RCV001396580; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119012111901CT2111901-
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile)7249TSC2Conflicting interpretations of pathogenicityrs397514881RCV000055042|RCV000644410|RCV001009993; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621119022111902GA16:g.2111902G>AClinGen:CA013958,Tuberous sclerosis database (TSC2):TSC2_02341C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1153C>G (p.His385Asp)7249TSC2Uncertain significancers1410290642RCV000807183; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119052111905CG16:g.2111905C>G-
NM_000548.5(TSC2):c.1154A>G (p.His385Arg)7249TSC2Uncertain significancers757353933RCV000570261|RCV001054845; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119062111906AG16:g.2111906A>GClinGen:CA028650C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1155T>C (p.His385=)7249TSC2Likely benign-1RCV001481514; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119072111907TC2111907-
NM_000548.5(TSC2):c.1158C>T (p.Asp386=)7249TSC2Likely benign-1RCV002192403; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119102111910CT2111910-
NM_000548.5(TSC2):c.1160dup (p.Leu388fs)7249TSC2Pathogenicrs878854075RCV000228535; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119112111912CCTNC_000016.9:g.2111912dupClinGen:CA10583291C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1161G>C (p.Leu387=)7249TSC2Likely benignrs781336082RCV000915944; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119132111913GC16:g.2111913G>C-
NM_000548.5(TSC2):c.1161G>A (p.Leu387=)7249TSC2Likely benign-1RCV002161955; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119132111913GA2111913-
NM_000548.5(TSC2):c.1164G>A (p.Leu388=)7249TSC2Likely benign-1RCV001404731; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119162111916GA2111916-
NM_000548.5(TSC2):c.1167C>T (p.Thr389=)7249TSC2Likely benignrs745774782RCV000458999; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119192111919CTNC_000016.9:g.2111919C>TClinGen:CA028679C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1168A>T (p.Thr390Ser)7249TSC2Uncertain significancers2086688013RCV001213112; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119202111920AT16:g.2111920A>T-
NM_000548.5(TSC2):c.1169C>T (p.Thr390Met)7249TSC2Uncertain significancers1596303442RCV001010094|RCV001210022; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119212111921CT16:g.2111921C>T-
NM_000548.5(TSC2):c.1170G>A (p.Thr390=)7249TSC2Benign/Likely benignrs376144933RCV000163303|RCV000189883|RCV000232455; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119222111922GA16:g.2111922G>AClinGen:CA014017C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1172_1174del (p.Val391del)7249TSC2Uncertain significancers1567428371RCV000768349; NMONDO: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:2689941621119222111924CGGTCNC_000016.9:g.2111924_2111926del-
NM_000548.5(TSC2):c.1170G>T (p.Thr390=)7249TSC2Likely benign-1RCV002096712; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119222111922GT2111922-
NM_000548.5(TSC2):c.1171G>A (p.Val391Met)7249TSC2Uncertain significancers1555501071RCV000556838; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119232111923GANC_000016.9:g.2111923G>AClinGen:CA394320318C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1172T>C (p.Val391Ala)7249TSC2Uncertain significancers1414372155RCV000704181; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119242111924TCNC_000016.9:g.2111924T>C-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)7249TSC2Pathogenicrs2086689358RCV001250760; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119292111929GT16:g.2111929G>T-
NM_000548.5(TSC2):c.1179G>A (p.Glu393=)7249TSC2Likely benign-1RCV001433014; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119312111931GA2111931-
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val)7249TSC2Uncertain significancers1409309186RCV000644099; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119322111932CGNC_000016.9:g.2111932C>GClinGen:CA394320514C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1180C>T (p.Leu394=)7249TSC2Likely benign-1RCV001464634; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119322111932CT2111932-
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met)7249TSC2Uncertain significance-1RCV001966993; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119322111932CA2111932-
NM_000548.5(TSC2):c.1182G>A (p.Leu394=)7249TSC2Benign/Likely benignrs779951754RCV000535285|RCV000568185; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621119342111934GANC_000016.9:g.2111934G>AClinGen:CA492961868C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1184G>A (p.Cys395Tyr)7249TSC2Uncertain significancers1026632436RCV000811652; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119362111936GA16:g.2111936G>A-
NM_000548.5(TSC2):c.1186G>A (p.Asp396Asn)7249TSC2Uncertain significancers1596303501RCV001223306; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119382111938GA16:g.2111938G>A-
NM_000548.5(TSC2):c.1187A>T (p.Asp396Val)7249TSC2Uncertain significancers1365616275RCV000568241|RCV000644079; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119392111939ATNC_000016.9:g.2111939A>TClinGen:CA394320618C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1191G>C (p.Gln397His)7249TSC2Uncertain significancers2086690848RCV001342284; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119432111943GC2111943-
NM_000548.5(TSC2):c.1194C>T (p.Asn398=)7249TSC2Benign/Likely benignrs369172347RCV000474784|RCV001010172|RCV001637036; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172021621119462111946CTNC_000016.9:g.2111946C>TClinGen:CA028727C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter)7249TSC2Pathogenicrs773920155RCV000265342|RCV000609232; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119472111947GTNC_000016.9:g.2111947G>TClinGen:CA10603287
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)7249TSC2Uncertain significancers773920155RCV001069408; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119472111947GA16:g.2111947G>A-
NM_000548.5(TSC2):c.1202A>G (p.His401Arg)7249TSC2Uncertain significance-1RCV002026290; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119542111954AG2111954-
NM_000548.5(TSC2):c.1203C>T (p.His401=)7249TSC2Benign/Likely benignrs199665674RCV000575081|RCV000644395|RCV001619797; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621119552111955CT16:g.2111955C>TClinGen:CA028767C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1204G>A (p.Gly402Arg)7249TSC2Conflicting interpretations of pathogenicityrs771561593RCV000545351|RCV001010318; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621119562111956GA16:g.2111956G>AClinGen:CA028779C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1204G>T (p.Gly402Trp)7249TSC2Uncertain significancers771561593RCV001202253|RCV001751371; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621119562111956GT16:g.2111956G>T-
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val)7249TSC2Uncertain significancers777172185RCV000524014|RCV001851491; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119572111957GTNC_000016.9:g.2111957G>TClinGen:CA394320844
NM_000548.5(TSC2):c.1206G>A (p.Gly402=)7249TSC2Likely benignrs558873383RCV000944452; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119582111958GA16:g.2111958G>A-
NM_000548.5(TSC2):c.1208C>T (p.Ser403Phe)7249TSC2Uncertain significancers1555501098RCV000560176; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119602111960CTNC_000016.9:g.2111960C>TClinGen:CA394320929C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1208C>G (p.Ser403Cys)7249TSC2Uncertain significance-1RCV001990064; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119602111960CG2111960-
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)7249TSC2Pathogenicrs45457701RCV000042938|RCV001382878; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119622111962CT16:g.2111962C>TClinGen:CA014047,Tuberous sclerosis database (TSC2):TSC2_00387C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1212G>A (p.Gln404=)7249TSC2Likely benignrs1156766051RCV000534351; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119642111964GA16:g.2111964G>AClinGen:CA492961983C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1213G>C (p.Glu405Gln)7249TSC2Conflicting interpretations of pathogenicityrs765622787RCV000226213|RCV000568157; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401621621119652111965GC16:g.2111965G>CClinGen:CA028805C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1217_1218del (p.Arg406fs)7249TSC2Pathogenic-1RCV001939659; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119652111966GGAG2111964-
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly)7249TSC2Uncertain significancers1057518321RCV000549305; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119662111966AG16:g.2111966A>GClinGen:CA394321063C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1215G>A (p.Glu405=)7249TSC2Likely benign-1RCV001470369; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119672111967GA2111967-
NM_000548.5(TSC2):c.1216A>G (p.Arg406Gly)7249TSC2Uncertain significance-1RCV001901102; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119682111968AG2111968-
NM_000548.5(TSC2):c.1217G>A (p.Arg406Lys)7249TSC2Uncertain significancers2086693907RCV001218235; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119692111969GA16:g.2111969G>A-
NM_000548.5(TSC2):c.1220A>T (p.Tyr407Phe)7249TSC2Uncertain significancers1596303621RCV001217751; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119722111972AT16:g.2111972A>T-
NM_000548.5(TSC2):c.1220A>G (p.Tyr407Cys)7249TSC2Uncertain significancers1596303621RCV001307044; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119722111972AG2111972-
NM_000548.5(TSC2):c.1221C>T (p.Tyr407=)7249TSC2Likely benignrs397514897RCV000877180|RCV001426034; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119732111973CT16:g.2111973C>T-
NM_000548.5(TSC2):c.1223T>G (p.Phe408Cys)7249TSC2Uncertain significancers1555501123RCV000527407; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119752111975TG16:g.2111975T>GClinGen:CA394321151C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs)7249TSC2Pathogenicrs137854127RCV000042402|RCV001388102; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119762111980TTGAACTNC_000016.9:g.2111978_2111982delClinGen:CA014105,Tuberous sclerosis database (TSC2):TSC2_00769
NM_000548.5(TSC2):c.1228C>T (p.Leu410=)7249TSC2Likely benign-1RCV001465216; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119802111980CT2111980-
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg)7249TSC2Conflicting interpretations of pathogenicityrs137854298RCV000042942|RCV000201010; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119812111981TG16:g.2111981T>GClinGen:CA014118,Tuberous sclerosis database (TSC2):TSC2_01125C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1230G>A (p.Leu410=)7249TSC2Likely benign-1RCV001404505; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119822111982GA2111982-
NM_000548.5(TSC2):c.1230G>C (p.Leu410=)7249TSC2Likely benign-1RCV002155173; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119822111982GC2111982-
NM_000548.5(TSC2):c.1231G>T (p.Val411Leu)7249TSC2Uncertain significancers1567428822RCV000686789; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119832111983GT16:g.2111983G>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1233G>A (p.Val411=)7249TSC2Uncertain significancers2086697274RCV001043658; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119852111985GA16:g.2111985G>A-
NM_000548.5(TSC2):c.1235A>G (p.Glu412Gly)7249TSC2Uncertain significancers137854026RCV000537703; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119872111987AGNC_000016.9:g.2111987A>GClinGen:CA394321332C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1236G>A (p.Glu412=)7249TSC2Likely benignrs1596303728RCV000924638; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119882111988GA16:g.2111988G>A-
NM_000548.5(TSC2):c.1237A>G (p.Arg413Gly)7249TSC2Uncertain significance-1RCV001961127; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119892111989AG2111989-
NM_000548.5(TSC2):c.1239A>T (p.Arg413Ser)7249TSC2Uncertain significancers1596303739RCV000820928; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119912111991AT16:g.2111991A>T-
NM_000548.5(TSC2):c.1240T>G (p.Cys414Gly)7249TSC2Likely pathogenicrs1057523509RCV000430283|RCV001861619; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119922111992TGNC_000016.9:g.2111992T>GClinGen:CA16608029
NM_000548.5(TSC2):c.1242T>G (p.Cys414Trp)7249TSC2Uncertain significance-1RCV001924427; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119942111994TG2111994-
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val)7249TSC2Conflicting interpretations of pathogenicityrs374936223RCV000163295|RCV000189884|RCV000726305|RCV001081464|RCV001120921|RCV001770122; NMONDO: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,Orph1621119962111996CT16:g.2111996C>TClinGen:CA014143C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1245G>A (p.Ala415=)7249TSC2Benign/Likely benignrs757325185RCV000163893|RCV000229260|RCV000616256; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN1693741621119972111997GA16:g.2111997G>AClinGen:CA014150C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1245G>C (p.Ala415=)7249TSC2Likely benign-1RCV001477499; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119972111997GC2111997-
NM_000548.5(TSC2):c.1246G>A (p.Asp416Asn)7249TSC2Uncertain significancers45517157RCV001317874; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119982111998GA2111998-
NM_000548.5(TSC2):c.1247A>C (p.Asp416Ala)7249TSC2Uncertain significancers117111015RCV000803069; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621119992111999AC16:g.2111999A>C-
NM_000548.5(TSC2):c.1248C>T (p.Asp416=)7249TSC2Likely benignrs1555501144RCV000548355; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120002112000CTNC_000016.9:g.2112000C>TClinGen:CA492962110C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1248C>G (p.Asp416Glu)7249TSC2Uncertain significance-1RCV001977135; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120002112000CG2112000-
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter)7249TSC2Pathogenicrs45517158RCV000043443|RCV000660342; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120012112001CT16:g.2112001C>TClinGen:CA014169,Tuberous sclerosis database (TSC2):TSC2_00812C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1252_1253del (p.Arg418fs)7249TSC2Pathogenicrs2086699971RCV001232211; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120022112003CAGC16:g.2112002_2112003del-
NM_000548.5(TSC2):c.1254G>T (p.Arg418Ser)7249TSC2Uncertain significancers767670580RCV001318263; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120062112006GT2112006-
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser)7249TSC2Pathogenicrs45517159RCV000043444|RCV000201101; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120072112007CT16:g.2112007C>TClinGen:CA014179,Tuberous sclerosis database (TSC2):TSC2_00389C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1256C>T (p.Pro419Leu)7249TSC2Uncertain significancers1237876686RCV000694218; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120082112008CT16:g.2112008C>T-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+2_1257+3del7249TSC2Likely pathogenicrs1596303814RCV000816573; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120092112010CTGC16:g.2112009_2112010del-
NM_000548.5(TSC2):c.1257+1G>A7249TSC2Pathogenicrs397515066RCV000055300|RCV000680620; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120102112010GA16:g.2112010G>AClinGen:CA014198,Tuberous sclerosis database (TSC2):TSC2_02155C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+1G>C7249TSC2Pathogenicrs397515066RCV000813443; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120102112010GC16:g.2112010G>C-
NM_000548.5(TSC2):c.1257+2T>C7249TSC2Pathogenicrs45509697RCV000042945|RCV000722173; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120112112011TCNC_000016.9:g.2112011T>CClinGen:CA014221,Tuberous sclerosis database (TSC2):TSC2_00166
NM_000548.5(TSC2):c.1257+6A>G7249TSC2Uncertain significance-1RCV001944162; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120152112015AG2112015-
NM_000548.5(TSC2):c.1257+7C>T7249TSC2Likely benignrs1596303823RCV000945243|RCV001433266; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120162112016CT16:g.2112016C>T-
NM_000548.5(TSC2):c.1257+8C>A7249TSC2Conflicting interpretations of pathogenicityrs767392684RCV000266941|RCV000432687|RCV000456424; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120172112017CANC_000016.9:g.2112017C>AClinGen:CA028945CN169374 not specified;
NM_000548.5(TSC2):c.1257+8C>G7249TSC2Likely benignrs767392684RCV000526754; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120172112017CGNC_000016.9:g.2112017C>GClinGen:CA658658355C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+9C>T7249TSC2Likely benign-1RCV001398934; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120182112018CT2112018-
NM_000548.5(TSC2):c.1257+9C>A7249TSC2Likely benign-1RCV002169110; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120182112018CA2112018-
NM_000548.5(TSC2):c.1257+10C>T7249TSC2Likely benignrs756063576RCV000613514|RCV002066623; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120192112019CT16:g.2112019C>TClinGen:CA028862CN169374 not specified;
NM_000548.5(TSC2):c.1257+10C>G7249TSC2Benign/Likely benignrs756063576RCV000644336|RCV001079699; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120192112019CGNC_000016.9:g.2112019C>GClinGen:CA620704813C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1257+13C>G7249TSC2Likely benign-1RCV002197687; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120222112022CG2112022-
NM_000548.5(TSC2):c.1257+14C>T7249TSC2Benignrs748972223RCV000189885|RCV002054239; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120232112023CTNC_000016.9:g.2112023C>TClinGen:CA028882CN169374 not specified;
NM_000548.5(TSC2):c.1257+17G>T7249TSC2Likely benignrs369939081RCV000439804|RCV002061549; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120262112026GT16:g.2112026G>TClinGen:CA028886CN169374 not specified;
NM_000548.5(TSC2):c.1257+18G>A7249TSC2Likely benign-1RCV002198184; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120272112027GA2112027-
NM_000548.5(TSC2):c.1257+20G>A7249TSC2Uncertain significancers1436234038RCV000521794|RCV001858024; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621120292112029GANC_000016.9:g.2112029G>AClinGen:CA620704814
NM_000548.5(TSC2):c.1258-96_1362del7249TSC2Pathogenic-1RCV002002424; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124002112971TGGGCTCTGACAGCAAACCAGCCTCTCGACCAGCAGCCCAGTGTGGAGAAGGAGAGCGCCGGAGGGGCAGAGGGGCAACACCGGCTCTTCTTTTGACAGGAGTCCTCCCTT2112399-
NM_000548.5(TSC2):c.1258-20A>G7249TSC2Likely benign-1RCV002197107; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124782112478AG2112478-
NM_000548.5(TSC2):c.1258-19C>T7249TSC2Likely benign-1RCV002207968; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124792112479CT2112479-
NM_000548.5(TSC2):c.1258-18C>T7249TSC2Likely benign-1RCV002092637; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124802112480CT2112480-
NM_000548.5(TSC2):c.1258-17G>A7249TSC2Likely benign-1RCV002205960; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124812112481GA2112481-
NM_000548.5(TSC2):c.1258-16G>T7249TSC2Likely benignrs979174870RCV000443863|RCV002058980; NMedGen:CN169374|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124822112482GT16:g.2112482G>TClinGen:CA16607141CN169374 not specified;
NM_000548.5(TSC2):c.1258-15C>T7249TSC2Likely benign-1RCV002113293; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124832112483CT2112483-
NM_000548.5(TSC2):c.1258-10_1258-8del7249TSC2Likely benign-1RCV001555629|RCV002072079; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124842112486CTCTC2112483-
NM_000548.5(TSC2):c.1258-10C>G7249TSC2Conflicting interpretations of pathogenicityrs794727093RCV000174493|RCV000724618|RCV001082397; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124882112488CG16:g.2112488C>GClinGen:CA014237CN169374 not specified;
NM_000548.5(TSC2):c.1258-10C>T7249TSC2Likely benign-1RCV001405850; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124882112488CT2112488-
NM_000548.5(TSC2):c.1258-9T>G7249TSC2Likely benignrs377188047RCV000929463|RCV001474661; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124892112489TG16:g.2112489T>G-
NM_000548.5(TSC2):c.1258-8_1258-6del7249TSC2Likely benign-1RCV001461140; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124892112491CTTTC2112488-
NM_000548.5(TSC2):c.1258-8T>G7249TSC2Conflicting interpretations of pathogenicityrs1175574879RCV000982162|RCV001463616|RCV001772177; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5381621124902112490TG16:g.2112490T>G-
NM_000548.5(TSC2):c.1258-5G>T7249TSC2Conflicting interpretations of pathogenicityrs925954967RCV000460314|RCV000502223|RCV000716880|RCV001536183; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN169374|MedGen:C2711754|MedGen:CN5172021621124932112493GTNC_000016.9:g.2112493G>TClinGen:CA16614911CN169374 not specified;
NM_000548.5(TSC2):c.1258-5G>A7249TSC2Likely benignrs925954967RCV000978886|RCV001399821; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124932112493GA16:g.2112493G>A-
NM_000548.5(TSC2):c.1258-4A>G7249TSC2Likely benign-1RCV001402803; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124942112494AG2112494-
NM_000548.5(TSC2):c.1258-3C>G7249TSC2Uncertain significancers45517161RCV000042403|RCV001852873; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124952112495CG16:g.2112495C>GClinGen:CA014296,Tuberous sclerosis database (TSC2):TSC2_00390C0041341 Tuberous sclerosis syndrome;
NM_000548.5(TSC2):c.1258-3C>A7249TSC2Uncertain significancers45517161RCV000690388; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124952112495CANC_000016.9:g.2112495C>A-C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1258-2A>G7249TSC2Pathogenicrs45517160RCV001329367; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124962112496AG2112496-
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter)7249TSC2Pathogenicrs796053484RCV000189977|RCV001051912; NMedGen:CN517202|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124982112498GTNC_000016.9:g.2112498G>TClinGen:CA319432
NM_000548.5(TSC2):c.1258G>A (p.Glu420Lys)7249TSC2Uncertain significancers796053484RCV000541364; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621124982112498GANC_000016.9:g.2112498G>AClinGen:CA394321763C1860707 613254 Tuberous sclerosis 2;
NM_000548.5(TSC2):c.1260G>A (p.Glu420=)7249TSC2Benign/Likely benignrs876658585RCV000571950|RCV001429133|RCV001637089; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:805|MedGen:CN5172021621125002112500GA16:g.2112500G>AClinGen:CA492962334C0027672 Hereditary cancer-predisposing syndrome;
NM_000548.5(TSC2):c.1261T>A (p.Ser421Thr)7249TSC2Uncertain significancers2086765786RCV001219703; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621125012112501TA16:g.2112501T>A-
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)7249TSC2Pathogenicrs2086765953RCV001194677; NMONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254, Orphanet:8051621125022112505TCCTCT16:g.2112502_2112505del-
NM_000548.5(TSC2):