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Parent Node:
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Tuberous Sclerosis (D014402)
..Starting node
..expand
Tuberous Sclerosis 1 (C565346)

       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:12419
Name:Tuberous Sclerosis 1
Definition:
Alternative IDs:OMIM:191100
ParentIDs:MESH:D014402
TreeNumbers:C04.445.810/C565346 |C04.651.800/C565346 |C04.700.700/C565346 |C10.500.507.400.750/C565346 |C10.562.850/C565346 |C10.574.500.865/C565346 |C16.131.666.507.400.750/C565346 |C16.320.400.880/C565346 |C16.320.700.700/C565346
Synonyms:TS |TSC |TSC1 |TUBEROSE SCLEROSIS |TUBEROUS SCLEROSIS COMPLEX
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C565346
MeSH: C565346
OMIM: 191100;
MSeqDR LSDB:  
Genes: TSC1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002086Abnormality of the respiratory system
3 HP:0009727Achromatic retinal patches
4 HP:0009720Adenoma sebaceum
5 HP:0009592Astrocytoma
6 HP:0007018Attention deficit hyperactivity disorder
7 HP:0000717Autism
NAMDC:  Autism
8 HP:0000957Cafe-au-lait spot
9 HP:0009729Cardiac rhabdomyoma
10 HP:0002514Cerebral calcification
11 HP:0010762Chordoma
12 HP:0009717Cortical tubers
13 HP:0009722Dental enamel pits
14 HP:0002888Ependymoma
15 HP:0000169Gingival fibromatosis
16 HP:0001425Heterogeneous
17 HP:0009719Hypomelanotic macule
18 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
19 HP:0012469Infantile spasms
20 HP:0001249Intellectual disabilityHP:0040284
21 HP:0009734Optic nerve glioma
22 HP:0003812Phenotypic variability
23 HP:0000826Precocious puberty
24 HP:0200024Premature chromatid separation
25 HP:0009554Projection of scalp hair onto lateral cheek
26 HP:0006772Renal angiomyolipoma
27 HP:0005584Renal cell carcinoma
28 HP:0000107Renal cyst
29 HP:0001250Seizures
NAMDC:  Seizures
30 HP:0009721Shagreen patch
31 HP:0001328Specific learning disability
32 HP:0001482Subcutaneous nodule
33 HP:0009716Subependymal nodules
34 HP:0009724Subungual fibromas
35 HP:0001716Wolff-Parkinson-White syndrome
NAMDC:  Wolff-Parkinson-White
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000009.11:g.(135750586_135753559)_(135772997_135776102)del7248TSC1Pathogenic-1RCV000449591; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135750586135776102nana-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.*4826A>C7248TSC1Uncertain significancers886063563RCV000350451|RCV000402171; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135766796135766796TGNC_000009.11:g.135766796T>GClinGen:CA10632920C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4788A>C7248TSC1Benignrs576342925RCV001166548|RCV001166549; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135766834135766834TG9:g.135766834T>G-
NM_000368.5(TSC1):c.*4763T>C7248TSC1Benignrs79470094RCV000310850|RCV000365025; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135766859135766859AGNC_000009.11:g.135766859A>GClinGen:CA10626646C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4680G>T7248TSC1Uncertain significancers747969932RCV001166550|RCV001168286; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135766942135766942CA9:g.135766942C>A-
NM_000368.5(TSC1):c.*4538A>G7248TSC1Uncertain significancers1036825417RCV001168288|RCV001168287; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767084135767084TC9:g.135767084T>C-
NM_000368.5(TSC1):c.*4522C>T7248TSC1Uncertain significancers918338551RCV001168290|RCV001168289; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767100135767100GA9:g.135767100G>A-
NM_000368.5(TSC1):c.*4515G>A7248TSC1Uncertain significancers886063565RCV000263689|RCV000318120; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767107135767107CTNC_000009.11:g.135767107C>TClinGen:CA10632926C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4492T>C7248TSC1Uncertain significancers889436708RCV001168291|RCV001169024; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767130135767130AG9:g.135767130A>G-
NM_000368.5(TSC1):c.*4447C>T7248TSC1Uncertain significancers112968492RCV000259417|RCV000372705; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767175135767175GANC_000009.11:g.135767175G>AClinGen:CA10632931C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4437G>A7248TSC1Benignrs11553763RCV000333342|RCV000387639; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767185135767185CTNC_000009.11:g.135767185C>TClinGen:CA10632934C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4385G>T7248TSC1Benignrs552453527RCV000293564|RCV000348440; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767237135767237CANC_000009.11:g.135767237C>AClinGen:CA10629264C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4356C>T7248TSC1Uncertain significancers886063566RCV000290166|RCV000384313; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767266135767266GANC_000009.11:g.135767266G>AClinGen:CA10626654C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4254G>A7248TSC1Uncertain significancers139801034RCV000345150|RCV000401546; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767368135767368CTNC_000009.11:g.135767368C>TClinGen:CA10629265C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4128G>A7248TSC1Uncertain significancers886063572RCV000327628|RCV000382020; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767494135767494CTNC_000009.11:g.135767494C>TClinGen:CA10629268C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*4119T>C7248TSC1Uncertain significancers1844802090RCV001166124|RCV001166123; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767503135767503AG9:g.135767503A>G-
NM_000368.5(TSC1):c.*4105C>T7248TSC1Uncertain significancers1588276922RCV001166125|RCV001166610; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767517135767517GA9:g.135767517G>A-
NM_000368.5(TSC1):c.*4057G>A7248TSC1Benignrs17149898RCV000284180|RCV000378628; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767565135767565CTNC_000009.11:g.135767565C>TClinGen:CA10632648C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3997G>A7248TSC1Uncertain significancers148982924RCV000339187|RCV000395563; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767625135767625CTNC_000009.11:g.135767625C>TClinGen:CA10632650C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3988G>A7248TSC1Benign/Likely benignrs563835484RCV000299365|RCV000336407; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767634135767634CTNC_000009.11:g.135767634C>TClinGen:CA10632943C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3959T>C7248TSC1Uncertain significancers1445439695RCV001166611|RCV001168358; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767663135767663AG9:g.135767663A>G-
NM_000368.5(TSC1):c.*3952A>G7248TSC1Benignrs114454155RCV000275512|RCV000370029; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767670135767670TCNC_000009.11:g.135767670T>CClinGen:CA10632655C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3836G>A7248TSC1Uncertain significancers572231078RCV000271593|RCV000327208; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767786135767786CTNC_000009.11:g.135767786C>TClinGen:CA10632663C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3830C>T7248TSC1Uncertain significancers544931538RCV000268488|RCV000363193; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767792135767792GANC_000009.11:g.135767792G>AClinGen:CA10626655C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3729G>T7248TSC1Benignrs543396172RCV000283606|RCV000320042; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135767893135767893CANC_000009.11:g.135767893C>AClinGen:CA10626658C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3685G>A7248TSC1Uncertain significancers1844826893RCV001169106|RCV001169107; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767937135767937CT9:g.135767937C>T-
NM_000368.5(TSC1):c.*3679G>A7248TSC1Benignrs1050700RCV000278209|RCV000374675; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767943135767943CTNC_000009.11:g.135767943C>TClinGen:CA10632665C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3648C>T7248TSC1Uncertain significancers113313202RCV001166186|RCV001169108; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135767974135767974GA9:g.135767974G>A-
NM_000368.5(TSC1):c.*3565C>T7248TSC1Uncertain significancers771494783RCV000293331|RCV000348504; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768057135768057GANC_000009.11:g.135768057G>AClinGen:CA10632958C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3538A>G7248TSC1Benignrs533324867RCV000363451|RCV000399081; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768084135768084TCNC_000009.11:g.135768084T>CClinGen:CA10632670C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3484A>G7248TSC1Uncertain significancers1335423130RCV001166187|RCV001166188; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768138135768138TC9:g.135768138T>C-
NM_000368.5(TSC1):c.*3448C>T7248TSC1Benignrs201092466RCV000265540|RCV000320705; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768174135768174GANC_000009.11:g.135768174G>AClinGen:CA10626663C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3272A>G7248TSC1Uncertain significancers866920023RCV001166681|RCV001166682; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768350135768350TC9:g.135768350T>C-
NM_000368.5(TSC1):c.*3238T>C7248TSC1Uncertain significancers886063585RCV000305092|RCV000401404; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768384135768384AG9:g.135768384A>GClinGen:CA10629275C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3170G>A7248TSC1Uncertain significancers367605870RCV001166683|RCV001166684; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768452135768452CT9:g.135768452C>T-
NM_000368.5(TSC1):c.*3092T>C7248TSC1Uncertain significancers1844856793RCV001166685|RCV001168416; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768530135768530AG9:g.135768530A>G-
NM_000368.5(TSC1):c.*3063A>T7248TSC1Uncertain significancers886063586RCV000338959|RCV000390223; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768559135768559TANC_000009.11:g.135768559T>AClinGen:CA10632961C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*3045A>G7248TSC1Uncertain significancers746365344RCV001168417|RCV001168418; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768577135768577TC9:g.135768577T>C-
NM_000368.5(TSC1):c.*3034T>C7248TSC1Uncertain significancers764220703RCV001168420|RCV001168419; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768588135768588AG9:g.135768588A>G-
NM_000368.5(TSC1):c.*2924T>C7248TSC1Uncertain significancers1844864883RCV001168421|RCV001169168; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768698135768698AG9:g.135768698A>G-
NM_000368.5(TSC1):c.*2904G>T7248TSC1Uncertain significancers559978998RCV000274280|RCV000371139; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768718135768718CANC_000009.11:g.135768718C>AClinGen:CA10632969C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2890A>G7248TSC1Uncertain significancers946784136RCV001169169|RCV001253929; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768732135768732TC9:g.135768732T>C-
NM_000368.5(TSC1):c.*2874G>A7248TSC1Benignrs111832812RCV000343542|RCV000377074; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768748135768748CTNC_000009.11:g.135768748C>TClinGen:CA10632970C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2872G>A7248TSC1Benignrs2106345RCV000285034|RCV000337549; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768750135768750CTNC_000009.11:g.135768750C>TClinGen:CA10629290C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2854T>C7248TSC1Uncertain significancers899761882RCV001166237|RCV001166238; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768768135768768AG9:g.135768768A>G-
NM_000368.5(TSC1):c.*2829A>G7248TSC1Uncertain significancers886063591RCV000297823|RCV000395509; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768793135768793TCNC_000009.11:g.135768793T>CClinGen:CA10626683C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2733A>G7248TSC1Benignrs73552805RCV000336437|RCV000401184; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768889135768889TCNC_000009.11:g.135768889T>CClinGen:CA10629299C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2724C>T7248TSC1Uncertain significancers749535135RCV001166239|RCV001166762; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768898135768898GA9:g.135768898G>A-
NM_000368.5(TSC1):c.*2708G>C7248TSC1Benignrs150433809RCV000314526|RCV000366771; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768914135768914CGNC_000009.11:g.135768914C>GClinGen:CA10626686C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2651G>T7248TSC1Benignrs55660990RCV000267797|RCV000320617; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768971135768971CANC_000009.11:g.135768971C>AClinGen:CA10626690C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2647C>T7248TSC1Uncertain significancers886063595RCV000281087|RCV000377602; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768975135768975GANC_000009.11:g.135768975G>AClinGen:CA10632677C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2638C>T7248TSC1Uncertain significancers373845353RCV000279855|RCV000352250; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768984135768984GANC_000009.11:g.135768984G>AClinGen:CA10626691C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2637C>G7248TSC1Uncertain significancers538802838RCV000293886|RCV000394618; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135768985135768985GCNC_000009.11:g.135768985G>CClinGen:CA10629311C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2628G>C7248TSC1Benignrs189852768RCV001168477|RCV001168478; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135768994135768994CG9:g.135768994C>G-
NM_000368.5(TSC1):c.*2576T>C7248TSC1Uncertain significancers886063599RCV000305173|RCV000400247; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769046135769046AGNC_000009.11:g.135769046A>GClinGen:CA10629321C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2558A>G7248TSC1Benignrs115516164RCV000265114|RCV000357599; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769064135769064TCNC_000009.11:g.135769064T>CClinGen:CA10626694C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2558A>C7248TSC1Uncertain significancers115516164RCV001169208|RCV001169209; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769064135769064TG9:g.135769064T>G-
NM_000368.5(TSC1):c.*2515T>C7248TSC1Uncertain significancers886878529RCV001169210|RCV001169211; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769107135769107AG9:g.135769107A>G-
NM_000368.5(TSC1):c.*2461G>A7248TSC1Benignrs73552806RCV000259344|RCV000317045; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769161135769161CTNC_000009.11:g.135769161C>TClinGen:CA10632683C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2446A>G7248TSC1Uncertain significancers558966777RCV000296544|RCV000387867; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769176135769176TCNC_000009.11:g.135769176T>CClinGen:CA10632971C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2418G>A7248TSC1Benignrs114415181RCV000290505|RCV000347796; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769204135769204CTNC_000009.11:g.135769204C>TClinGen:CA10629325C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2354A>G7248TSC1Benignrs114877981RCV001166296|RCV001166297; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769268135769268TC9:g.135769268T>C-
NM_000368.5(TSC1):c.*2168C>T7248TSC1Benignrs532469694RCV000301240|RCV000390184; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769454135769454GANC_000009.11:g.135769454G>AClinGen:CA10626697C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2142T>C7248TSC1Benignrs112314368RCV000261443|RCV000353798; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769480135769480AGNC_000009.11:g.135769480A>GClinGen:CA10632979C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2109C>T7248TSC1Benign/Likely benignrs73552808RCV000332949|RCV000366870; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769513135769513GANC_000009.11:g.135769513G>AClinGen:CA10626699C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*2104A>G7248TSC1Uncertain significancers1019153783RCV001166812|RCV001166811; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769518135769518TC9:g.135769518T>C-
NM_000368.5(TSC1):c.*2094G>A7248TSC1Uncertain significancers534649062RCV000274616|RCV000327253; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769528135769528CTNC_000009.11:g.135769528C>TClinGen:CA10629329C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1972A>C7248TSC1Uncertain significancers917117694RCV001166813|RCV001168528; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769650135769650TG9:g.135769650T>G-
NM_000368.5(TSC1):c.*1970G>A7248TSC1Uncertain significancers886063603RCV000326203|RCV000378606; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769652135769652CTNC_000009.11:g.135769652C>TClinGen:CA10632687C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1934A>G7248TSC1Benignrs10491534RCV000280006|RCV000377558; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769688135769688TC9:g.135769688T>CClinGen:CA10632980C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1902T>G7248TSC1Benignrs142038787RCV000335031|RCV000396486; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769720135769720AC9:g.135769720A>CClinGen:CA10632982C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1861G>A7248TSC1Uncertain significancers561511694RCV000299912|RCV000349998; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769761135769761CT9:g.135769761C>TClinGen:CA10632983C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1839G>A7248TSC1Uncertain significancers1170523556RCV001169281|RCV001169282; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769783135769783CT9:g.135769783C>T-
NM_000368.5(TSC1):c.*1785A>G7248TSC1Benignrs74362385RCV000314925|RCV000400966; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135769837135769837TC9:g.135769837T>CClinGen:CA10632984C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1680G>A7248TSC1Uncertain significancers532372427RCV000270332|RCV000369547; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135769942135769942CT9:g.135769942C>TClinGen:CA10632989C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1508A>G7248TSC1Benign/Likely benignrs552190342RCV000278117|RCV000337952; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770114135770114TCNC_000009.11:g.135770114T>CClinGen:CA10629338C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1507G>A7248TSC1Benignrs739441RCV000293568|RCV000373877; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770115135770115CTNC_000009.11:g.135770115C>TClinGen:CA10632996C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1488C>T7248TSC1Benignrs739442RCV000348515|RCV000393355; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770134135770134GANC_000009.11:g.135770134G>AClinGen:CA10632998C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1487C>T7248TSC1Benignrs79277527RCV000054917|RCV000344370|RCV001095304; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770135135770135GA9:g.135770135G>AClinGen:CA004909,Tuberous sclerosis database (TSC1):TSC1_00453C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1474G>A7248TSC1Uncertain significancers1013551475RCV001166870|RCV001166871; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770148135770148CT9:g.135770148C>T-
NM_000368.5(TSC1):c.*1468C>T7248TSC1Benignrs72759433RCV000054921|RCV000393353|RCV001095318; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770154135770154GA9:g.135770154G>AClinGen:CA004885,Tuberous sclerosis database (TSC1):TSC1_00452C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1452A>C7248TSC1Uncertain significancers969974293RCV001166872|RCV001166873; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770170135770170TG9:g.135770170T>G-
NM_000368.5(TSC1):c.*1372T>G7248TSC1Benignrs58612431RCV000264627|RCV000359363; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770250135770250ACNC_000009.11:g.135770250A>CClinGen:CA10633002C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1355C>A7248TSC1Uncertain significancers749683153RCV001168584|RCV001168585; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770267135770267GT9:g.135770267G>T-
NM_000368.5(TSC1):c.*1349G>A7248TSC1Uncertain significancers1195760994RCV001168587|RCV001168586; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770273135770273CT9:g.135770273C>T-
NM_000368.5(TSC1):c.*1322C>T7248TSC1Benignrs2809243RCV000305720|RCV000360906; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770300135770300GANC_000009.11:g.135770300G>AClinGen:CA10629339C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1275T>G7248TSC1Benignrs2809244RCV000261435|RCV000316720; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770347135770347ACNC_000009.11:g.135770347A>CClinGen:CA10633005C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1251C>T7248TSC1Uncertain significancers773490178RCV001169353|RCV001169354; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770371135770371GA9:g.135770371G>A-
NM_000368.5(TSC1):c.*1239C>T7248TSC1Uncertain significancers1350222885RCV001166414|RCV001169355; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770383135770383GA9:g.135770383G>A-
NM_000368.5(TSC1):c.*1215G>A7248TSC1Uncertain significancers1013608610RCV001166415|RCV001166416; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770407135770407CT9:g.135770407C>T-
NM_000368.5(TSC1):c.*1127C>T7248TSC1Benignrs139119563RCV001166417|RCV001166418; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770495135770495GA9:g.135770495G>A-
NM_000368.5(TSC1):c.*1089G>A7248TSC1Uncertain significancers886063609RCV000262717|RCV000376001; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770533135770533CTNC_000009.11:g.135770533C>TClinGen:CA10629340C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1052G>A7248TSC1Benignrs562950766RCV000331858|RCV000386375; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770570135770570CTNC_000009.11:g.135770570C>TClinGen:CA10629344C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1050T>C7248TSC1Uncertain significancers530042727RCV000296702|RCV000331997; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770572135770572AGNC_000009.11:g.135770572A>GClinGen:CA10629345C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*1036C>G7248TSC1Uncertain significancers1844969383RCV001166947|RCV001166948; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770586135770586GC9:g.135770586G>C-
NM_000368.5(TSC1):c.*1000A>G7248TSC1Uncertain significancers886063610RCV000287553|RCV000381979; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770622135770622TCNC_000009.11:g.135770622T>CClinGen:CA10632691C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*941A>G7248TSC1Uncertain significancers189368676RCV000347174|RCV000397232; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770681135770681TCNC_000009.11:g.135770681T>CClinGen:CA10632692C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*936T>C7248TSC1Uncertain significancers1170508811RCV001168663|RCV001168662; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770686135770686AG9:g.135770686A>G-
NM_000368.5(TSC1):c.*913C>T7248TSC1Benignrs117425923RCV000054956|RCV000304744|RCV001095344; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770709135770709GA9:g.135770709G>AClinGen:CA008389,Tuberous sclerosis database (TSC1):TSC1_00463C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*841C>T7248TSC1Benignrs149902841RCV000301132|RCV000355850; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770781135770781GANC_000009.11:g.135770781G>AClinGen:CA10632694C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*824C>T7248TSC1Uncertain significancers886063613RCV000275093|RCV000330294; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135770798135770798GANC_000009.11:g.135770798G>AClinGen:CA10633012C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*806T>C7248TSC1Uncertain significancers191614777RCV001169426|RCV001169427; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770816135770816AG9:g.135770816A>G-
NM_000368.5(TSC1):c.*682C>T7248TSC1Benignrs75252898RCV000325392|RCV000384645; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770940135770940GANC_000009.11:g.135770940G>AClinGen:CA10626705C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*677G>C7248TSC1Uncertain significancers189890583RCV000290081|RCV000321987; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770945135770945CGNC_000009.11:g.135770945C>GClinGen:CA10632698C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*651C>G7248TSC1Benignrs369911288RCV000286702|RCV000376560; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135770971135770971GCNC_000009.11:g.135770971G>CClinGen:CA10626711C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*499C>T7248TSC1Uncertain significancers530003850RCV000312242|RCV000396478; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771123135771123GANC_000009.11:g.135771123G>AClinGen:CA10632700C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*448G>A7248TSC1Uncertain significancers886063617RCV000366959|RCV000402165; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771174135771174CTNC_000009.11:g.135771174C>TClinGen:CA10629352C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*405A>G7248TSC1Benignrs560193480RCV000313509|RCV000364074; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771217135771217TCNC_000009.11:g.135771217T>CClinGen:CA10633013C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*376C>T7248TSC1Benignrs114064768RCV000269494|RCV000329093|RCV001692068; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771246135771246GANC_000009.11:g.135771246G>AClinGen:CA10632701C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*358C>T7248TSC1Benignrs147729052RCV000054922|RCV001095329|RCV000365168; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771264135771264GA9:g.135771264G>ATuberous sclerosis database (TSC1):TSC1_00459,ClinGen:CA007402C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*350G>A7248TSC1Uncertain significancers1845006725RCV001167012|RCV001167013; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771272135771272CT9:g.135771272C>T-
NM_000368.5(TSC1):c.*298A>G7248TSC1Uncertain significancers886063619RCV000266992|RCV000317806; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771324135771324TCNC_000009.11:g.135771324T>CClinGen:CA10626717C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*295C>G7248TSC1Benignrs113549339RCV000282497|RCV000372466; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771327135771327GCNC_000009.11:g.135771327G>CClinGen:CA10633016C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*295C>A7248TSC1Conflicting interpretations of pathogenicityrs113549339RCV000337514|RCV000387578; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771327135771327GTNC_000009.11:g.135771327G>TClinGen:CA10633024C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*289T>A7248TSC1Uncertain significancers115091888RCV001168722|RCV001168723; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771333135771333AT9:g.135771333A>T-
NM_000368.5(TSC1):c.*279T>G7248TSC1Uncertain significancers554637460RCV000306295|RCV000393191; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771343135771343ACNC_000009.11:g.135771343A>CClinGen:CA10629353C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*250G>C7248TSC1Uncertain significancers1309725348RCV001168724|RCV001169489; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771372135771372CG9:g.135771372C>G-
NM_000368.5(TSC1):c.*249G>A7248TSC1Uncertain significancers1296777494RCV001169490|RCV001169491; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771373135771373CT9:g.135771373C>T-
NM_000368.5(TSC1):c.*198T>C7248TSC1Benignrs7037703RCV000347092|RCV000393414; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771424135771424AGNC_000009.11:g.135771424A>GClinGen:CA10629356C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*116A>G7248TSC1Uncertain significancers181486656RCV001169492|RCV001169493; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771506135771506TC9:g.135771506T>C-
NM_000368.5(TSC1):c.*107T>C7248TSC1Benignrs116917669RCV000055025|RCV000357649|RCV001095297; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771515135771515AG9:g.135771515A>GClinGen:CA004395,Tuberous sclerosis database (TSC1):TSC1_00693C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*106A>G7248TSC1Uncertain significancers886063620RCV000267247|RCV000305996; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771516135771516TCNC_000009.11:g.135771516T>CClinGen:CA10629357C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.*60T>G7248TSC1Uncertain significancers577329896RCV000261183|RCV000353756; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135771562135771562ACNC_000009.11:g.135771562A>CClinGen:CA10629358C1846385 607341 Focal cortical dysplasia type II;
NC_000009.12:g.(?_132896215)_(132904474_?)del7248TSC1Pathogenic-1RCV000707808; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771602135779861nana-C1854465 191100 Tuberous sclerosis 1;
NC_000009.12:g.(?_132896215)_(132928892_?)del7248TSC1Pathogenic-1RCV000808646; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771602135804279nana-
NC_000009.11:g.(?_135771602)_(136769889_?)dup7248TSC1Uncertain significance-1RCV001033460; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771602136769889nana-1-
NC_000009.12:g.(?_132896215)_(132900857_?)del7248TSC1Pathogenic-1RCV001031364; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771602135776244nana-1-
NC_000009.11:g.(?_135771612)_(135820530_?)dup7248TSC1Uncertain significance-1RCV000707944; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771612135820530nana-C1854465 191100 Tuberous sclerosis 1;
NC_000009.11:g.(?_135771612)_(135778184_?)dup7248TSC1Uncertain significance-1RCV000807919; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771612135778184nana-
NC_000009.12:g.(?_132896229)_(132928878_?)del7248TSC1Pathogenic-1RCV000642102; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771616135804265nana-C1854465 191100 Tuberous sclerosis 1;
NC_000009.11:g.(?_135771622)_(135804259_?)dup7248TSC1Uncertain significance-1RCV000642104; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771622135804259nana-C1854465 191100 Tuberous sclerosis 1;
NC_000009.12:g.(?_132896235)_(132945143_?)dup7248TSC1Uncertain significance-1RCV001033679; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771622135820530nana-1-
NC_000009.11:g.(?_135771622)_(135810482_?)dup7248TSC1Uncertain significance-1RCV001322295; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771622135810482nana-1-
NC_000009.11:g.(?_135771622)_(135820530_?)del7248TSC1Pathogenic-1RCV001388741; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771622135820530nana-1-
NC_000009.11:g.(?_135771622)_(135801136_?)dup7248TSC1Uncertain significance-1RCV001874881; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771622135801136nana-1-
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn)7248TSC1Uncertain significance-1RCV002028050; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771626135771626CT135771626-
NM_000368.5(TSC1):c.3489C>T (p.His1163=)7248TSC1Likely benignrs1554812527RCV000642056; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771628135771628GANC_000009.11:g.135771628G>AClinGen:CA467812842C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp)7248TSC1Uncertain significancers749746550RCV000574109|RCV000689229; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771631135771631TANC_000009.11:g.135771631T>AClinGen:CA037138C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3483T>A (p.His1161Gln)7248TSC1Uncertain significance-1RCV001942383; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771634135771634AT135771634-
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg)7248TSC1Uncertain significancers1564469371RCV000698050; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771635135771635TCNC_000009.11:g.135771635T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)7248TSC1Uncertain significance-1RCV002028222; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771639135771639GA135771639-
NM_000368.5(TSC1):c.3476C>T (p.Thr1159Ile)7248TSC1Uncertain significance-1RCV001969047; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771641135771641GA135771641-
NM_000368.5(TSC1):c.3475A>C (p.Thr1159Pro)7248TSC1Uncertain significancers1216169846RCV000641993; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771642135771642TG9:g.135771642T>GClinGen:CA375366290C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser)7248TSC1Uncertain significance-1RCV001363222; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771642135771642TA135771642-
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser)7248TSC1Uncertain significancers1845023976RCV001056513; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771647135771647TC9:g.135771647T>C-
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp)7248TSC1Conflicting interpretations of pathogenicityrs796053451RCV000189830|RCV000697883|RCV001020374; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771648135771648TC9:g.135771648T>CClinGen:CA319266CN169374 not specified;
NM_000368.5(TSC1):c.3464A>G (p.Asp1155Gly)7248TSC1Uncertain significance-1RCV002003255; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771653135771653TC135771653-
NM_000368.5(TSC1):c.3460A>G (p.Met1154Val)7248TSC1Uncertain significance-1RCV001359955; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771657135771657TC135771657-
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=)7248TSC1Likely benign-1RCV001459678; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771658135771658GA135771658-
NM_000368.5(TSC1):c.3457A>G (p.Ile1153Val)7248TSC1Uncertain significancers1845024693RCV001207014; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771660135771660TC9:g.135771660T>C-
NM_000368.5(TSC1):c.3456T>C (p.His1152=)7248TSC1Likely benignrs1588285851RCV000932543; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771661135771661AG9:g.135771661A>G-
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg)7248TSC1Conflicting interpretations of pathogenicityrs1554812543RCV000642027|RCV001548709; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771662135771662TCNC_000009.11:g.135771662T>CClinGen:CA375366342C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3454C>T (p.His1152Tyr)7248TSC1Uncertain significancers1845025129RCV001327736; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771663135771663GA135771663-
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=)7248TSC1Likely benignrs1554812550RCV000538042|RCV000573461; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771664135771664TC9:g.135771664T>CClinGen:CA467812857C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3448C>T (p.Gln1150Ter)7248TSC1Uncertain significance-1RCV001877609; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771669135771669GA135771669-
NM_000368.5(TSC1):c.3444del (p.Gly1149fs)7248TSC1Uncertain significancers1845025560RCV001206376; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771673135771673CAC9:g.135771673_135771673del-
NM_000368.5(TSC1):c.3442G>A (p.Val1148Ile)7248TSC1Uncertain significancers1554812551RCV000641996; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771675135771675CT9:g.135771675C>TClinGen:CA375366369C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr)7248TSC1Benign/Likely benignrs397514806RCV000054927|RCV001020306|RCV001084718|RCV000831184; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771681135771681CA9:g.135771681C>AClinGen:CA007378,UniProtKB:Q92574#VAR_070664,Tuberous sclerosis database (TSC1):TSC1_00507C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3436del (p.Asp1146fs)7248TSC1Uncertain significancers1588285924RCV000797296; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771681135771681TCT9:g.135771681_135771681del-
NM_000368.5(TSC1):c.3436G>C (p.Asp1146His)7248TSC1Uncertain significancers397514806RCV001069525; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771681135771681CG9:g.135771681C>G-
NM_000368.5(TSC1):c.3436G>A (p.Asp1146Asn)7248TSC1Uncertain significancers397514806RCV001234968; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771681135771681CT9:g.135771681C>T-
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=)7248TSC1Benign/Likely benignrs140352085RCV000163800|RCV000176365|RCV000234154|RCV000318765|RCV001721055; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN519135771682135771682CT9:g.135771682C>TClinGen:CA007371C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3435G>C (p.Pro1145=)7248TSC1Likely benign-1RCV001495952; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771682135771682CG135771682-
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu)7248TSC1Uncertain significancers767904247RCV000642019|RCV001020300; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771683135771683GANC_000009.11:g.135771683G>AClinGen:CA037070C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala)7248TSC1Uncertain significancers773541137RCV000792073|RCV001020297; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771684135771684GC9:g.135771684G>C-
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)7248TSC1Likely benignrs1588285980RCV000892445; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771685135771685GC9:g.135771685G>C-
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=)7248TSC1Likely benignrs1588285980RCV000979497|RCV001398494; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771685135771685GA9:g.135771685G>A-
NM_000368.5(TSC1):c.3431C>T (p.Thr1144Ile)7248TSC1Uncertain significancers1845027394RCV001232999; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771686135771686GA9:g.135771686G>A-
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=)7248TSC1Benign/Likely benignrs759431801RCV000573153|RCV000642079; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771688135771688CGNC_000009.11:g.135771688C>GClinGen:CA467812882C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=)7248TSC1Benign/Likely benignrs759431801RCV000642098|RCV001020279; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771688135771688CT9:g.135771688C>TClinGen:CA036996C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)7248TSC1Conflicting interpretations of pathogenicityrs201867031RCV000034611|RCV000274136|RCV000572666|RCV001081625; NMedGen:CN517202|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771689135771689GA9:g.135771689G>AClinGen:CA007363C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=)7248TSC1Likely benignrs758286878RCV000231359; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771691135771691GA9:g.135771691G>AClinGen:CA036933C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=)7248TSC1Likely benignrs758286878RCV000887620; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771691135771691GT9:g.135771691G>T-
NM_000368.5(TSC1):c.3425C>T (p.Pro1142Leu)7248TSC1Uncertain significance-1RCV001360188; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771692135771692GA135771692-
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala)7248TSC1Uncertain significancers1060503227RCV000474187|RCV001020266; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771693135771693GCNC_000009.11:g.135771693G>CClinGen:CA16612438C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser)7248TSC1Uncertain significancers1060503227RCV000807044; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771693135771693GA9:g.135771693G>A-
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=)7248TSC1Likely benign-1RCV001497254; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771694135771694AG135771694-
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys)7248TSC1Uncertain significance-1RCV001373161; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771695135771695GC135771695-
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=)7248TSC1Benign/Likely benignrs763931959RCV000549642|RCV001697803; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771697135771697CT9:g.135771697C>TClinGen:CA036916CN169374 not specified;
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu)7248TSC1Conflicting interpretations of pathogenicityrs751126355RCV000460787|RCV001020253|RCV001554985; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135771698135771698GANC_000009.11:g.135771698G>AClinGen:CA036899C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3418C>T (p.Pro1140Ser)7248TSC1Uncertain significance-1RCV001959735; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771699135771699GA135771699-
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln)7248TSC1Uncertain significancers756737864RCV001020248|RCV001209377|RCV001759703; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771700135771700GT9:g.135771700G>T-
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro)7248TSC1Conflicting interpretations of pathogenicityrs764018144RCV000228446|RCV001020245; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771701135771701TG9:g.135771701T>GClinGen:CA10582619C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)7248TSC1Uncertain significancers1845031012RCV001307289; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771702135771702GA135771702-
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=)7248TSC1Benign/Likely benignrs745475737RCV000458977|RCV001020237; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771703135771703AGNC_000009.11:g.135771703A>GClinGen:CA036842C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His)7248TSC1Conflicting interpretations of pathogenicityrs756449737RCV000574531|RCV000602459|RCV001205610; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771704135771704GT9:g.135771704G>TClinGen:CA036822C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser)7248TSC1Uncertain significance-1RCV001933714; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771705135771705GA135771705-
NM_000368.5(TSC1):c.3410G>T (p.Gly1137Val)7248TSC1Uncertain significancers1845032228RCV001048611; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771707135771707CA9:g.135771707C>A-
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)7248TSC1Conflicting interpretations of pathogenicityrs751398082RCV000164106|RCV000463228; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771709135771709AT9:g.135771709A>TClinGen:CA007356C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly)7248TSC1Uncertain significancers1588286218RCV001065275; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771710135771710TC9:g.135771710T>C-
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=)7248TSC1Benign/Likely benignrs568004490RCV000433443|RCV000467888|RCV001020220; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771712135771712TC9:g.135771712T>CClinGen:CA036792CN169374 not specified;
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=)7248TSC1Likely benign-1RCV001468064; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771714135771714GA135771714-
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=)7248TSC1Benignrs769266225RCV000642073; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771715135771715GANC_000009.11:g.135771715G>AClinGen:CA036759C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3400A>C (p.Asn1134His)7248TSC1Uncertain significancers1554812610RCV000556565; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771717135771717TGNC_000009.11:g.135771717T>GClinGen:CA375366451C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3399G>A (p.Leu1133=)7248TSC1Likely benign-1RCV001412846; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771718135771718CT135771718-
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=)7248TSC1Likely benign-1RCV002141977; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771718135771718CA135771718-
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=)7248TSC1Benign/Likely benignrs1244090738RCV001416122|RCV001719063; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771720135771720GA9:g.135771720G>AClinGen:CA467812927CN169374 not specified;
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=)7248TSC1Benign/Likely benignrs774980129RCV000472665|RCV000567570; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771721135771721GANC_000009.11:g.135771721G>AClinGen:CA036720C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=)7248TSC1Likely benignrs774980129RCV000544315; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771721135771721GCNC_000009.11:g.135771721G>CClinGen:CA467812933C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu)7248TSC1Uncertain significancers1564469655RCV000818449; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771722135771722GA9:g.135771722G>A-
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser)7248TSC1Uncertain significancers1249897804RCV001223518; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771723135771723GA9:g.135771723G>A-
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn)7248TSC1Uncertain significancers1845035929RCV001071260; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771727135771727CG9:g.135771727C>G-
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg)7248TSC1Uncertain significancers1588286359RCV000810874; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771728135771728TC9:g.135771728T>C-
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=)7248TSC1Conflicting interpretations of pathogenicityrs200200869RCV000055007|RCV000193910|RCV000234681|RCV000296323|RCV000563418; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0015356,MeSH:D009386,9135771730135771730GA9:g.135771730G>AClinGen:CA007340,Tuberous sclerosis database (TSC1):TSC1_00421C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val)7248TSC1Conflicting interpretations of pathogenicityrs772233665RCV000573969|RCV000698607; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771731135771731GANC_000009.11:g.135771731G>AClinGen:CA036688C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3381G>A (p.Val1127=)7248TSC1Benign/Likely benignrs773586317RCV000531702|RCV000615422; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135771736135771736CT9:g.135771736C>TClinGen:CA036672CN169374 not specified;
NM_000368.5(TSC1):c.3379G>A (p.Val1127Met)7248TSC1Uncertain significancers1845037495RCV001337430; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771738135771738CT135771738-
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu)7248TSC1Uncertain significance-1RCV001992257; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771738135771738CA135771738-
NM_000368.5(TSC1):c.3376_3377dup (p.Glu1128fs)7248TSC1Uncertain significancers1845038227RCV001240519; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771739135771740AACC9:g.135771739_135771740insCC-
NM_000368.5(TSC1):c.3377G>T (p.Gly1126Val)7248TSC1Uncertain significancers1446630759RCV001324337; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771740135771740CA135771740-
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=)7248TSC1Conflicting interpretations of pathogenicityrs1157060310RCV000572442|RCV000762583|RCV001079246; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771744135771744AGNC_000009.11:g.135771744A>GClinGen:CA467812995C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3368_3369del (p.Lys1123fs)7248TSC1Uncertain significancers878853967RCV000230614; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771748135771749CTTCNC_000009.11:g.135771749_135771750delClinGen:CA10582620C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser)7248TSC1Conflicting interpretations of pathogenicityrs760918561RCV000692725|RCV001020100; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771753135771753CT9:g.135771753C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3363G>C (p.Leu1121=)7248TSC1Likely benignrs1060504857RCV000471593|RCV001409875; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771754135771754CGNC_000009.11:g.135771754C>GClinGen:CA16612556C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3363G>T (p.Leu1121=)7248TSC1Likely benign-1RCV002075173; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771754135771754CA135771754-
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=)7248TSC1Likely benignrs769478982RCV000642070; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771756135771756GA9:g.135771756G>AClinGen:CA036630C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3361C>G (p.Leu1121Val)7248TSC1Uncertain significancers769478982RCV001220206; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771756135771756GC9:g.135771756G>C-
NM_000368.5(TSC1):c.3359_3360del (p.Glu1120fs)7248TSC1Uncertain significancers1845040133RCV001220572; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771757135771758GTTG9:g.135771757_135771758del-
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=)7248TSC1Likely benign-1RCV001442362; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771760135771760TC135771760-
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile)7248TSC1Benign/Likely benignrs775420987RCV000543231|RCV001731763; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771761135771761GA9:g.135771761G>AClinGen:CA036612C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro)7248TSC1Uncertain significancers762641110RCV000530823|RCV001020060|RCV001093202; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135771767135771767AGNC_000009.11:g.135771767A>GClinGen:CA036590C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn)7248TSC1Uncertain significancers764140399RCV000176367|RCV001852173; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771770135771770CT9:g.135771770C>TClinGen:CA007333CN169374 not specified;
NM_000368.5(TSC1):c.3341C>T (p.Ser1114Phe)7248TSC1Uncertain significance-1RCV001909433; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771776135771776GA135771776-
NM_000368.5(TSC1):c.3338T>C (p.Leu1113Pro)7248TSC1Uncertain significancers1845042308RCV001047141; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771779135771779AG9:g.135771779A>G-
NM_000368.5(TSC1):c.3337C>A (p.Leu1113Ile)7248TSC1Uncertain significancers1449696743RCV001233093; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771780135771780GT9:g.135771780G>T-
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=)7248TSC1Likely benignrs761334590RCV000430383|RCV000930655|RCV001488497; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771781135771781GA9:g.135771781G>AClinGen:CA16605639CN169374 not specified;
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn)7248TSC1Uncertain significancers1554812642RCV000642003; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771785135771785CTNC_000009.11:g.135771785C>TClinGen:CA375366598C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser)7248TSC1Uncertain significancers952996030RCV000781917|RCV001856202; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771788135771788GCNC_000009.11:g.135771788G>C-
NM_000368.5(TSC1):c.3327G>T (p.Met1109Ile)7248TSC1Uncertain significancers1845043593RCV001222947; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771790135771790CA9:g.135771790C>A-
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val)7248TSC1Uncertain significancers1845043842RCV001045909; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771792135771792TC9:g.135771792T>C-
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)7248TSC1Benign/Likely benignrs35593170RCV000042275|RCV000054911|RCV000118694|RCV000163278|RCV000206605|RCV000344276|RCV000588693; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Huma9135771793135771793GA9:g.135771793G>AClinGen:CA007323,Tuberous sclerosis database (TSC1):TSC1_00189C0005684 109800 Bladder cancer, somatic;
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser)7248TSC1Conflicting interpretations of pathogenicityrs118203753RCV000042274|RCV000189829|RCV000642032|RCV001019989; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771795135771795CT9:g.135771795C>TClinGen:CA007317,UniProtKB:Q92574#VAR_009414,Tuberous sclerosis database (TSC1):TSC1_00190CN169374 not specified;
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys)7248TSC1Uncertain significancers118203753RCV001035281; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771795135771795CA9:g.135771795C>A-
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=)7248TSC1Benign/Likely benignrs118203752RCV000042273|RCV001019987|RCV000842684|RCV001085186; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771796135771796GA9:g.135771796G>AClinGen:CA007312,Tuberous sclerosis database (TSC1):TSC1_00278C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3321C>G (p.Asp1107Glu)7248TSC1Uncertain significance-1RCV001371375; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771796135771796GC135771796-
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn)7248TSC1Benignrs1060503226RCV000474862; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771798135771798CTNC_000009.11:g.135771798C>TClinGen:CA16612730C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3318G>A (p.Glu1106=)7248TSC1Likely benign-1RCV001392363; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771799135771799CT135771799-
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe)7248TSC1Uncertain significancers796053467RCV000189871|RCV000227853; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771806135771806CA9:g.135771806C>AClinGen:CA319330CN169374 not specified;
NM_000368.5(TSC1):c.3311G>A (p.Cys1104Tyr)7248TSC1Uncertain significancers796053467RCV001218165; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771806135771806CT9:g.135771806C>T-
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His)7248TSC1Uncertain significancers1474184918RCV000562966|RCV001859978; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771808135771808CGNC_000009.11:g.135771808C>GClinGen:CA375366652C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3309G>A (p.Gln1103=)7248TSC1Likely benign-1RCV001492522; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771808135771808CT135771808-
NM_000368.5(TSC1):c.3308A>G (p.Gln1103Arg)7248TSC1Uncertain significancers1564469848RCV000689537; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771809135771809TC9:g.135771809T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr)7248TSC1Conflicting interpretations of pathogenicityrs1263464680RCV000542328|RCV001019826; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771812135771812CGNC_000009.11:g.135771812C>GClinGen:CA375366662C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn)7248TSC1Uncertain significancers1263464680RCV000819759|RCV001759601; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771812135771812CT9:g.135771812C>T-
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)7248TSC1Benign/Likely benignrs118203751RCV000042272|RCV000054986|RCV000163601|RCV000458280|RCV000438214|RCV001697036; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN169374|MedG9135771814135771814CT9:g.135771814C>TClinGen:CA007309,Tuberous sclerosis database (TSC1):TSC1_00377C0005684 109800 Bladder cancer, somatic;
NM_000368.5(TSC1):c.3303G>T (p.Glu1101Asp)7248TSC1Uncertain significance-1RCV002029056; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771814135771814CA135771814-
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys)7248TSC1Uncertain significancers1554812661RCV000530044; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771816135771816CTNC_000009.11:g.135771816C>TClinGen:CA375366674C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=)7248TSC1Benign/Likely benignrs754282309RCV000471445|RCV000612784; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135771817135771817GANC_000009.11:g.135771817G>AClinGen:CA036396CN169374 not specified;
NM_000368.5(TSC1):c.3298A>T (p.Ser1100Cys)7248TSC1Uncertain significancers1845047652RCV001323403; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771819135771819TA135771819-
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg)7248TSC1Conflicting interpretations of pathogenicityrs876660132RCV000213461|RCV001562491|RCV000799771; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771821135771821TC9:g.135771821T>CClinGen:CA10578822C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser)7248TSC1Uncertain significancers1554812687RCV000553886|RCV001019746|RCV001755840; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135771824135771824TC9:g.135771824T>CClinGen:CA375366696C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3292A>C (p.Asn1098His)7248TSC1Uncertain significancers1845048359RCV001234950; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771825135771825TG9:g.135771825T>G-
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His)7248TSC1Conflicting interpretations of pathogenicityrs118203750RCV000042271|RCV000541570|RCV000565824|RCV001675599; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135771827135771827CT9:g.135771827C>TClinGen:CA007301,UniProtKB:Q92574#VAR_070663,Tuberous sclerosis database (TSC1):TSC1_00413C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3290G>T (p.Arg1097Leu)7248TSC1Uncertain significance-1RCV001941240; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771827135771827CA135771827-
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys)7248TSC1Conflicting interpretations of pathogenicityrs779599439RCV000189863|RCV001019673|RCV001085451; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771828135771828GA9:g.135771828G>AClinGen:CA036377CN169374 not specified;
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)7248TSC1Benignrs116747861RCV000042270|RCV000130762|RCV000204589|RCV000347399|RCV000825092|RCV001711158; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,9135771835135771835CT9:g.135771835C>TClinGen:CA007299,Tuberous sclerosis database (TSC1):TSC1_00188C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3281A>T (p.Glu1094Val)7248TSC1Uncertain significance-1RCV001373814; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771836135771836TA135771836-
NM_000368.5(TSC1):c.3280G>C (p.Glu1094Gln)7248TSC1Uncertain significancers1845049905RCV001205944; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771837135771837CG9:g.135771837C>G-
NM_000368.5(TSC1):c.3279A>G (p.Arg1093=)7248TSC1Likely benignrs772288584RCV000978918|RCV001410042; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771838135771838TC9:g.135771838T>C-
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=)7248TSC1Likely benign-1RCV001448181; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771838135771838TG135771838-
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)7248TSC1Uncertain significancers550526986RCV000642039|RCV000724617; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771839135771839CT9:g.135771839C>TClinGen:CA007291CN169374 not specified;
NM_000368.5(TSC1):c.3278G>C (p.Arg1093Pro)7248TSC1Uncertain significance-1RCV001967351; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771839135771839CG135771839-
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter)7248TSC1Uncertain significancers1431256375RCV001339923; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771840135771840GA135771840-
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=)7248TSC1Likely benign-1RCV001437662; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771841135771841AC135771841-
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly)7248TSC1Uncertain significancers1845051123RCV001060125; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771842135771842GC9:g.135771842G>C-
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)7248TSC1Uncertain significancers747053008RCV000793432|RCV001019566; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771843135771843CA9:g.135771843C>A-
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)7248TSC1Uncertain significancers747053008RCV001058682; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771843135771843CT9:g.135771843C>T-
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=)7248TSC1Likely benign-1RCV002216275; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771844135771844CT135771844-
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val)7248TSC1Uncertain significancers776694051RCV001216992|RCV001751408; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771849135771849TC9:g.135771849T>C-
NC_000009.11:g.(?_135771850)_(137038881_?)dup7248TSC1Uncertain significance-1RCV001033564; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771850137038881nana-1-
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala)7248TSC1Conflicting interpretations of pathogenicityrs762845573RCV000528961|RCV000566744; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771851135771851CG9:g.135771851C>GClinGen:CA036274C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3266G>A (p.Gly1089Asp)7248TSC1Uncertain significancers762845573RCV000793677; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771851135771851CT9:g.135771851C>T-
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg)7248TSC1Uncertain significancers1845053005RCV001351063; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771854135771854AC135771854-
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=)7248TSC1Likely benign-1RCV001436178; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771856135771856GA135771856-
NM_000368.5(TSC1):c.3260T>A (p.Phe1087Tyr)7248TSC1Uncertain significance-1RCV001920146; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771857135771857AT135771857-
NM_000368.5(TSC1):c.3258C>G (p.Ser1086Arg)7248TSC1Uncertain significancers1845053380RCV001224547; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771859135771859GC9:g.135771859G>C-
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg)7248TSC1Uncertain significancers1845053380RCV001312966; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771859135771859GT135771859-
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu)7248TSC1Conflicting interpretations of pathogenicityrs1442514678RCV000564766|RCV000871904|RCV001510606; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771864135771864TC9:g.135771864T>CClinGen:CA375366847C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=)7248TSC1Uncertain significancers886063621RCV000303257|RCV000397919; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771865135771865TGNC_000009.11:g.135771865T>GClinGen:CA10629360C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro)7248TSC1Uncertain significancers796053463RCV000189862|RCV001857663; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771867135771867AG9:g.135771867A>GClinGen:CA319322CN169374 not specified;
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=)7248TSC1Benign/Likely benignrs761673589RCV000834975|RCV001088763; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771868135771868AG9:g.135771868A>G-
NM_000368.5(TSC1):c.3248G>A (p.Ser1083Asn)7248TSC1Uncertain significance-1RCV001365112; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771869135771869CT135771869-
NM_000368.5(TSC1):c.3246C>A (p.Pro1082=)7248TSC1Likely benign-1RCV001449547; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771871135771871GT135771871-
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=)7248TSC1Likely benign-1RCV001491609; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771871135771871GA135771871-
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu)7248TSC1Uncertain significancers767439431RCV000553116; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771872135771872GA9:g.135771872G>AClinGen:CA375366879C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala)7248TSC1Uncertain significancers1060503191RCV000475425|RCV001019417; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771873135771873GCNC_000009.11:g.135771873G>CClinGen:CA16612731C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=)7248TSC1Likely benign-1RCV001487776; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771874135771874AT135771874-
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=)7248TSC1Likely benignrs1554812759RCV000600704|RCV001019388|RCV001494562; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771877135771877TC9:g.135771877T>CClinGen:CA467813342CN169374 not specified;
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=)7248TSC1Likely benignrs749995749RCV000540458|RCV000563861|RCV001001079; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693749135771880135771880GA9:g.135771880G>AClinGen:CA036202C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=)7248TSC1Benign/Likely benignrs140622357RCV000528165|RCV001019317; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771889135771889GANC_000009.11:g.135771889G>AClinGen:CA036185C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=)7248TSC1Likely benign-1RCV002120623; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771889135771889GT135771889-
NM_000368.5(TSC1):c.3227C>G (p.Thr1076Ser)7248TSC1Uncertain significance-1RCV001884339; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771890135771890GC135771890-
NM_000368.5(TSC1):c.3226A>C (p.Thr1076Pro)7248TSC1Uncertain significancers1845058224RCV001325094; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771891135771891TG135771891-
NM_000368.5(TSC1):c.3223C>T (p.Pro1075Ser)7248TSC1Uncertain significancers1845058768RCV001322625; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771894135771894GA135771894-
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly)7248TSC1Uncertain significancers1845059319RCV001219772; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771900135771900TC9:g.135771900T>C-
NM_000368.5(TSC1):c.3216C>T (p.Ala1072=)7248TSC1Likely benignrs118203747RCV000042268|RCV001444593; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771901135771901GA9:g.135771901G>AClinGen:CA007243,Tuberous sclerosis database (TSC1):TSC1_00375C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=)7248TSC1Likely benign-1RCV001495348; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771901135771901GC135771901-
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val)7248TSC1Uncertain significancers779369226RCV000690055; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771902135771902GANC_000009.11:g.135771902G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3214G>T (p.Ala1072Ser)7248TSC1Uncertain significancers1845060154RCV001226856; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771903135771903CA9:g.135771903C>A-
NM_000368.5(TSC1):c.3214G>A (p.Ala1072Thr)7248TSC1Uncertain significance-1RCV002046922; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771903135771903CT135771903-
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=)7248TSC1Likely benign-1RCV001406716; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771904135771904AG135771904-
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe)7248TSC1Uncertain significance-1RCV002025462; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771905135771905GA135771905-
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=)7248TSC1Benign/Likely benignrs201165286RCV000163403|RCV000232827|RCV001704164; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771907135771907CT9:g.135771907C>TClinGen:CA007235C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val)7248TSC1Uncertain significancers1060503200RCV000470360; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771908135771908GANC_000009.11:g.135771908G>AClinGen:CA16612440C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3209C>G (p.Ala1070Gly)7248TSC1Uncertain significancers1060503200RCV000642052; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771908135771908GCNC_000009.11:g.135771908G>CClinGen:CA375367005C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=)7248TSC1Benign/Likely benignrs878853966RCV000231156|RCV001019213; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771910135771910TC9:g.135771910T>CClinGen:CA10582621C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3206A>T (p.Glu1069Val)7248TSC1Uncertain significancers1554812780RCV000641957; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771911135771911TA9:g.135771911T>AClinGen:CA16044438C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys)7248TSC1Uncertain significancers1845061706RCV001319069; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771912135771912CT135771912-
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg)7248TSC1Conflicting interpretations of pathogenicityrs1167362899RCV000547456|RCV001019199; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771917135771917AC9:g.135771917A>CClinGen:CA375367039C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr)7248TSC1Uncertain significancers1167362899RCV001062113; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771917135771917AG9:g.135771917A>G-
NM_000368.5(TSC1):c.3199_3200del (p.Met1067fs)7248TSC1Uncertain significance-1RCV001913590; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771917135771918CATC135771916-
NM_000368.5(TSC1):c.3199A>G (p.Met1067Val)7248TSC1Uncertain significance-1RCV002047855; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771918135771918TC135771918-
NM_000368.5(TSC1):c.3198T>G (p.Thr1066=)7248TSC1Likely benign-1RCV001399434; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771919135771919AC135771919-
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=)7248TSC1Benignrs118203746RCV000042267|RCV000189828|RCV000473374; NMONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771922135771922CT9:g.135771922C>TClinGen:CA007227,Tuberous sclerosis database (TSC1):TSC1_00374C0751674 606690 Lymphangiomyomatosis;
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met)7248TSC1Benign/Likely benignrs753388676RCV000535131|RCV001705064; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771923135771923GA9:g.135771923G>AClinGen:CA036145CN169374 not specified;
NM_000368.5(TSC1):c.3190G>A (p.Glu1064Lys)7248TSC1Uncertain significance-1RCV001973080; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771927135771927CT135771927-
NM_000368.5(TSC1):c.3187T>C (p.Trp1063Arg)7248TSC1Uncertain significancers1845063816RCV001303839; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771930135771930AG135771930-
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln)7248TSC1Conflicting interpretations of pathogenicityrs755396992RCV000527076|RCV000562217; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771932135771932CTNC_000009.11:g.135771932C>TClinGen:CA036127C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)7248TSC1Conflicting interpretations of pathogenicityrs118203745RCV000042266|RCV000189827|RCV000227692|RCV000563572|RCV001167647|RCV001093203; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C18469135771933135771933GA9:g.135771933G>AClinGen:CA007223,Tuberous sclerosis database (TSC1):TSC1_00440C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=)7248TSC1Likely benign-1RCV001452329; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771934135771934AG135771934-
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly)7248TSC1Uncertain significancers1203493016RCV000694102; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771936135771936TC9:g.135771936T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg)7248TSC1Uncertain significancers1203493016RCV000688515; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771936135771936TG9:g.135771936T>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)7248TSC1Conflicting interpretations of pathogenicityrs753263747RCV000468565|RCV001018981; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135771940135771940GCNC_000009.11:g.135771940G>CClinGen:CA036094C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=)7248TSC1Likely benign-1RCV001474913; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771940135771940GA135771940-
NM_000368.5(TSC1):c.3175T>C (p.Phe1059Leu)7248TSC1Uncertain significancers1379924767RCV000815344; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771942135771942AG9:g.135771942A>G-
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr)7248TSC1Benign/Likely benignrs112066743RCV000551227|RCV001578209; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771945135771945GT9:g.135771945G>TClinGen:CA375367153C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3170G>T (p.Gly1057Val)7248TSC1Uncertain significancers1588287204RCV000999256|RCV001221179; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771947135771947CA9:g.135771947C>A-
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser)7248TSC1Uncertain significancers587778727RCV000122197|RCV000534056; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771948135771948CT9:g.135771948C>TClinGen:CA007215CN169374 not specified;
NM_000368.5(TSC1):c.3168A>G (p.Ala1056=)7248TSC1Likely benign-1RCV001419081; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771949135771949TC135771949-
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=)7248TSC1Likely benign-1RCV001411909; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771952135771952CT135771952-
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met)7248TSC1Likely benignrs1167652701RCV000558171; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771953135771953CANC_000009.11:g.135771953C>AClinGen:CA375367179C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3161A>G (p.Gln1054Arg)7248TSC1Uncertain significancers1588287238RCV000802720; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771956135771956TC9:g.135771956T>C-
NM_000368.5(TSC1):c.3159C>T (p.His1053=)7248TSC1Benign/Likely benignrs778413037RCV000491150|RCV000642101; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771958135771958GA9:g.135771958G>AClinGen:CA036056C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser)7248TSC1Uncertain significancers1210523479RCV000801259; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771966135771966GA9:g.135771966G>A-
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp)7248TSC1Uncertain significancers397514831RCV000054964|RCV001062290; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771970135771970CG9:g.135771970C>GClinGen:CA007200,Tuberous sclerosis database (TSC1):TSC1_00640C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.3146A>G (p.Glu1049Gly)7248TSC1Uncertain significance-1RCV001959336; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771971135771971TC135771971-
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=)7248TSC1Likely benignrs1554812826RCV000642058; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771973135771973TG9:g.135771973T>GClinGen:CA467812797C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3144A>G (p.Pro1048=)7248TSC1Likely benign-1RCV001472528; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771973135771973TC135771973-
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu)7248TSC1Uncertain significancers1203864892RCV000641962; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771974135771974GANC_000009.11:g.135771974G>AClinGen:CA375367259C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3141C>T (p.Thr1047=)7248TSC1Likely benignrs892228756RCV000983151|RCV001491079; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771976135771976GA9:g.135771976G>A-
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile)7248TSC1Benign/Likely benignrs587778726RCV000122195|RCV000545661|RCV001707532; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771977135771977GA9:g.135771977G>AClinGen:CA007195CN169374 not specified;
NM_000368.5(TSC1):c.3140C>G (p.Thr1047Ser)7248TSC1Uncertain significance-1RCV001978209; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771977135771977GC135771977-
NM_000368.5(TSC1):c.3137C>T (p.Ser1046Phe)7248TSC1Uncertain significancers1845071202RCV001237008; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771980135771980GA9:g.135771980G>A-
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=)7248TSC1Likely benignrs1332702219RCV000923104; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771982135771982AG9:g.135771982A>G-
NM_000368.5(TSC1):c.3134T>A (p.Leu1045His)7248TSC1Uncertain significance-1RCV001992771; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771983135771983AT135771983-
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe)7248TSC1Conflicting interpretations of pathogenicityrs747162992RCV000189826|RCV001852519; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771984135771984GA9:g.135771984G>AClinGen:CA319263CN169374 not specified;
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val)7248TSC1Conflicting interpretations of pathogenicityrs747162992RCV000684976|RCV001018760|RCV001675952; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135771984135771984GC9:g.135771984G>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=)7248TSC1Likely benignrs1588287426RCV000982861; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771985135771985CT9:g.135771985C>T-
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)7248TSC1Benign/Likely benignrs2234980RCV000034610|RCV000054843|RCV001080890|RCV001824583; NMedGen:CN517202|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135771987135771988CCGCT9:g.135771987_135771988insGCTClinGen:CA215768,Tuberous sclerosis database (TSC1):TSC1_00373CN517202 not provided;
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup)7248TSC1Likely benignrs2234980RCV000042265|RCV000465677|RCV001703928; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771987135771988CCGCTGCT9:g.135771987_135771988insGCTGCTClinGen:CA262329,Tuberous sclerosis database (TSC1):TSC1_00372CN169374 not specified;
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)7248TSC1Conflicting interpretations of pathogenicityrs796053462RCV000189860|RCV001079866; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771987135771987CT9:g.135771987C>TClinGen:CA319317CN169374 not specified;
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup)7248TSC1Benignrs2234980RCV000537868; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771987135771988CCGCTGCTGCTNC_000009.11:g.135771990TGC[9]ClinGen:CA658656062C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Glu1044_Leu1045insSerIleSer)7248TSC1Uncertain significancers1588287475RCV000797289; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771987135771988CCGCTGATGCT9:g.135771987_135771988insGCTGATGCT-
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del)7248TSC1Benignrs2234980RCV000054936|RCV000642071; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771988135771990CGCTC9:g.135771988_135771990delClinGen:CA007176,Tuberous sclerosis database (TSC1):TSC1_00506C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=)7248TSC1Benign/Likely benignrs201192125RCV000472788|RCV001712208; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771988135771988GA9:g.135771988G>AClinGen:CA035985CN169374 not specified;
NM_000368.5(TSC1):c.3112AGC[3] (p.Ser1041_Ser1043del)7248TSC1Uncertain significancers2234980RCV000801076; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771988135771996CGCTGCTGCTC9:g.135771988_135771996del-
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del)7248TSC1Uncertain significancers2234980RCV000808043; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771988135771993CGCTGCTC9:g.135771988_135771993del-
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly)7248TSC1Uncertain significancers1554812848RCV000564340|RCV001853804; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771990135771990TC9:g.135771990T>CClinGen:CA375367311C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)7248TSC1Conflicting interpretations of pathogenicityrs148931779RCV000189859|RCV001018741|RCV001080753|RCV001818461; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135771992135771992CA9:g.135771992C>AClinGen:CA035967CN169374 not specified;
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn)7248TSC1Benign/Likely benignrs148931779RCV000229859|RCV001589171; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135771992135771992CT9:g.135771992C>TClinGen:CA10582622C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly)7248TSC1Uncertain significancers1845075552RCV001338499; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771993135771993TC135771993-
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)7248TSC1Conflicting interpretations of pathogenicityrs753374839RCV000225953|RCV000341814|RCV001705062; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN5172029135771994135771994GCNC_000009.11:g.135771994G>CClinGen:CA035953C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.3121A>G (p.Ser1041Gly)7248TSC1Uncertain significancers1060503204RCV000465650; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771996135771996TCNC_000009.11:g.135771996T>CClinGen:CA16612559C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=)7248TSC1Likely benignrs1289954163RCV000642077; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135771997135771997GANC_000009.11:g.135771997G>AClinGen:CA467812833C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly)7248TSC1Uncertain significancers1490199228RCV000562783|RCV001342247; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772002135772002TC9:g.135772002T>CClinGen:CA375367378C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg)7248TSC1Uncertain significancers1490199228RCV001069522; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772002135772002TG9:g.135772002T>G-
NM_000368.5(TSC1):c.3114C>T (p.Ser1038=)7248TSC1Likely benign-1RCV001467015; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772003135772003GA135772003-
NM_000368.5(TSC1):c.3114C>G (p.Ser1038Arg)7248TSC1Uncertain significance-1RCV001924880; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772003135772003GC135772003-
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn)7248TSC1Uncertain significancers1060503196RCV000460336; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772004135772004CTNC_000009.11:g.135772004C>TClinGen:CA16612560C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3113G>T (p.Ser1038Ile)7248TSC1Uncertain significancers1060503196RCV001229844; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772004135772004CA9:g.135772004C>A-
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly)7248TSC1Benign/Likely benignrs768443391RCV000565729|RCV000642001; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772005135772005TC9:g.135772005T>CClinGen:CA035829C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3109_3111dup (p.Gly1037dup)7248TSC1Uncertain significance-1RCV001896746; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772005135772006TTGCC135772005-
NM_000368.5(TSC1):c.3111C>G (p.Gly1037=)7248TSC1Likely benign-1RCV002126208; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772006135772006GC135772006-
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu)7248TSC1Conflicting interpretations of pathogenicityrs774196458RCV000564806|RCV000642049; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772010135772010CTNC_000009.11:g.135772010C>TClinGen:CA035815C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys)7248TSC1Uncertain significance-1RCV002024931; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772010135772011CCTT135772010-
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg)7248TSC1Uncertain significancers1588287655RCV000820981; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772011135772011CT9:g.135772011C>T-
NM_000368.5(TSC1):c.3105T>A (p.Gly1035=)7248TSC1Likely benign-1RCV001455276; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772012135772012AT135772012-
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)7248TSC1Uncertain significance-1RCV001996691; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772013135772013CT135772013-
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp)7248TSC1Uncertain significance-1RCV001363078; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772016135772016CT135772016-
NM_000368.5(TSC1):c.3101G>T (p.Gly1034Val)7248TSC1Uncertain significance-1RCV002027822; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772016135772016CA135772016-
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser)7248TSC1Uncertain significancers1015742388RCV001228901; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772018135772018TG9:g.135772018T>G-
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu)7248TSC1Uncertain significancers1845079425RCV001304357; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772025135772025CT135772025-
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg)7248TSC1Uncertain significancers772043928RCV000462134; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772026135772026CTNC_000009.11:g.135772026C>TClinGen:CA035781C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3088A>T (p.Ser1030Cys)7248TSC1Uncertain significancers1588287783RCV000804926; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772029135772029TA9:g.135772029T>A-
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile)7248TSC1Uncertain significancers796053450RCV000189858|RCV000557141; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772031135772031CA9:g.135772031C>AClinGen:CA319312CN169374 not specified;
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn)7248TSC1Conflicting interpretations of pathogenicityrs796053450RCV000189824|RCV000803859; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772031135772031CTNC_000009.11:g.135772031C>TClinGen:CA319258CN169374 not specified;
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del)7248TSC1Uncertain significancers1588287797RCV000806425; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772031135772033ACTGA9:g.135772031_135772033del-
NM_000368.5(TSC1):c.3085A>T (p.Ser1029Cys)7248TSC1Uncertain significance-1RCV001359319; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772032135772032TA135772032-
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp)7248TSC1Uncertain significancers1845080410RCV001206596; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772034135772034CT9:g.135772034C>T-
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln)7248TSC1Benign/Likely benignrs796053461RCV000233178|RCV000561979|RCV001705063; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772037135772037CTNC_000009.11:g.135772037C>TClinGen:CA319309C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu)7248TSC1Uncertain significancers796053461RCV000544888; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772037135772037CANC_000009.11:g.135772037C>AClinGen:CA375367546C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp)7248TSC1Conflicting interpretations of pathogenicityrs375394001RCV000532264|RCV001018500|RCV001821552; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693749135772038135772038GANC_000009.11:g.135772038G>AClinGen:CA035767C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr)7248TSC1Benign/Likely benignrs533565295RCV000424313|RCV000556341|RCV001018495; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772041135772041CT9:g.135772041C>TClinGen:CA035755CN169374 not specified;
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser)7248TSC1Uncertain significancers533565295RCV000697123; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772041135772041CA9:g.135772041C>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=)7248TSC1Benign/Likely benignrs765753157RCV000543802|RCV001018475; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772042135772042GANC_000009.11:g.135772042G>AClinGen:CA035740C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn)7248TSC1Uncertain significancers1845081620RCV001050580; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772043135772043CT9:g.135772043C>T-
NM_000368.5(TSC1):c.3072C>T (p.Ser1024=)7248TSC1Likely benignrs1554812912RCV000642094; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772045135772045GANC_000009.11:g.135772045G>AClinGen:CA467812993C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)7248TSC1Likely benignrs1588287899RCV000883160; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772048135772048GA9:g.135772048G>A-
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu)7248TSC1Benignrs1554812917RCV000531464; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772049135772049GA9:g.135772049G>AClinGen:CA375367614C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser)7248TSC1Uncertain significancers138445573RCV000457246; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772050135772050GANC_000009.11:g.135772050G>AClinGen:CA035733C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3066G>A (p.Arg1022=)7248TSC1Likely benignrs1588287932RCV000982930|RCV001444973; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772051135772051CT9:g.135772051C>T-
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=)7248TSC1Likely benign-1RCV001558270|RCV002072105; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772054135772054GA135772054-
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu)7248TSC1Uncertain significancers1845082733RCV001226569; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772055135772055GA9:g.135772055G>A-
NM_000368.5(TSC1):c.3062C>G (p.Pro1021Arg)7248TSC1Uncertain significancers1845082733RCV001300060; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772055135772055GC135772055-
NM_000368.5(TSC1):c.3061C>T (p.Pro1021Ser)7248TSC1Uncertain significancers1845082934RCV001060516; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772056135772056GA9:g.135772056G>A-
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=)7248TSC1Benign/Likely benignrs1380396209RCV000555330|RCV001683566; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772057135772057GANC_000009.11:g.135772057G>AClinGen:CA467813020C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile)7248TSC1Uncertain significancers1060503214RCV000467181|RCV000572644; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772058135772058GANC_000009.11:g.135772058G>AClinGen:CA16612441C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3058A>G (p.Thr1020Ala)7248TSC1Uncertain significance-1RCV001915803; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772059135772059TC135772059-
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg)7248TSC1Uncertain significance-1RCV002047510; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772061135772061TC135772061-
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu)7248TSC1Uncertain significance-1RCV001997002; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772062135772062TC135772062-
NM_000368.5(TSC1):c.3050A>G (p.Glu1017Gly)7248TSC1Uncertain significancers922638686RCV001308776; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772067135772067TC135772067-
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp)7248TSC1Uncertain significancers1313165721RCV000525879; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772070135772070CT9:g.135772070C>TClinGen:CA375367719C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3046G>T (p.Gly1016Cys)7248TSC1Uncertain significancers1020905743RCV001303093; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772071135772071CA135772071-
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser)7248TSC1Uncertain significance-1RCV001969527; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772071135772071CT135772071-
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=)7248TSC1Benign/Likely benignrs759047948RCV000445291|RCV000458428|RCV000561112|RCV001703508; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772072135772072GA9:g.135772072G>AClinGen:CA035716C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys)7248TSC1Uncertain significance-1RCV001956858; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772072135772072GT135772072-
NM_000368.5(TSC1):c.3042C>T (p.His1014=)7248TSC1Likely benign-1RCV001454383; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772075135772075GA135772075-
NM_000368.5(TSC1):c.3042C>A (p.His1014Gln)7248TSC1Uncertain significance-1RCV001906399; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772075135772075GT135772075-
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg)7248TSC1Uncertain significance-1RCV001980434; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772076135772076TC135772076-
NM_000368.5(TSC1):c.3034T>C (p.Ser1012Pro)7248TSC1Uncertain significancers764979889RCV000554535; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772083135772083AG9:g.135772083A>GClinGen:CA375367789C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu)7248TSC1Conflicting interpretations of pathogenicityrs796053449RCV000641967|RCV001018192; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772085135772085GT9:g.135772085G>TClinGen:CA319255C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=)7248TSC1Likely benign-1RCV001476241; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772087135772087CT135772087-
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=)7248TSC1Likely benignrs1588288126RCV001018157|RCV002068961; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772090135772090TC9:g.135772090T>C-
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys)7248TSC1Conflicting interpretations of pathogenicityrs142954164RCV000166118|RCV000733529|RCV001082367; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772093135772093AC9:g.135772093A>CClinGen:CA007132C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=)7248TSC1Likely benignrs142954164RCV000946095|RCV001413491; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772093135772093AG9:g.135772093A>G-
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)7248TSC1Uncertain significancers1263094349RCV000525091|RCV000719023; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C27117549135772094135772094TC9:g.135772094T>CClinGen:CA375367854C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr)7248TSC1Conflicting interpretations of pathogenicityrs764738792RCV000468231|RCV000567330; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772098135772098GANC_000009.11:g.135772098G>AClinGen:CA035635C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg)7248TSC1Conflicting interpretations of pathogenicityrs1242948205RCV000819678|RCV001018065|RCV001552544; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772101135772101CG9:g.135772101C>G-
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile)7248TSC1Uncertain significancers1588288220RCV001018061|RCV001229131; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772104135772104CT9:g.135772104C>T-
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile)7248TSC1Uncertain significancers751970451RCV000570116|RCV001223273; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772105135772105CT9:g.135772105C>TClinGen:CA035614C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr)7248TSC1Conflicting interpretations of pathogenicityrs757370776RCV000574780|RCV000605673|RCV001068166; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772106135772106AG9:g.135772106A>GClinGen:CA035603C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val)7248TSC1Uncertain significancers371879917RCV000692962; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772107135772107TC9:g.135772107T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3010A>T (p.Met1004Leu)7248TSC1Uncertain significancers371879917RCV001228272; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772107135772107TA9:g.135772107T>A-
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=)7248TSC1Likely benign-1RCV001434255; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772108135772108GA135772108-
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe)7248TSC1Uncertain significancers1554812991RCV000548959; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772109135772109GANC_000009.11:g.135772109G>AClinGen:CA375367938C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val)7248TSC1Conflicting interpretations of pathogenicityrs202121327RCV000229256|RCV000563268|RCV001568881|RCV001169542; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135772112135772112TA9:g.135772112T>AClinGen:CA035584C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.3004G>A (p.Asp1002Asn)7248TSC1Uncertain significancers1588288289RCV000817135; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772113135772113CT9:g.135772113C>T-
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp)7248TSC1Uncertain significancers552217429RCV000688208; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772117135772117GCNC_000009.11:g.135772117G>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2999G>A (p.Cys1000Tyr)7248TSC1Uncertain significancers1845088618RCV001342983; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772118135772118CT135772118-
NM_000368.5(TSC1):c.2997G>A (p.Gly999=)7248TSC1Likely benignrs1437222540RCV000927822|RCV001505954; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772120135772120CT9:g.135772120C>T-
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val)7248TSC1Uncertain significance-1RCV001769145|RCV001868582; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772121135772121CA135772121-
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg)7248TSC1Uncertain significancers780224196RCV000570020|RCV000727040|RCV001323564; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772122135772122CT9:g.135772122C>TClinGen:CA035493C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg)7248TSC1Uncertain significancers780224196RCV000796986; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772122135772122CG9:g.135772122C>G-
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)7248TSC1Conflicting interpretations of pathogenicityrs923543734RCV000867669|RCV001169543; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135772123135772123GA9:g.135772123G>A-
NM_000368.5(TSC1):c.2988T>C (p.Cys996=)7248TSC1Likely benignrs1588288374RCV000937208|RCV001465390; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772129135772129AG9:g.135772129A>G-
NM_000368.5(TSC1):c.2987G>A (p.Cys996Tyr)7248TSC1Uncertain significancers771810884RCV001036653; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772130135772130CT9:g.135772130C>T-
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly)7248TSC1Uncertain significancers1554813029RCV000536602; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772131135772131ACNC_000009.11:g.135772131A>CClinGen:CA375368037C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr)7248TSC1Uncertain significancers144314195RCV001324840; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772133135772133CT135772133-
NM_000368.5(TSC1):c.2982C>T (p.Asp994=)7248TSC1Benign/Likely benignrs199919348RCV000528724|RCV001017763; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772135135772135GANC_000009.11:g.135772135G>AClinGen:CA035444C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2980G>C (p.Asp994His)7248TSC1Uncertain significancers78868727RCV001309026; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772137135772137CG135772137-
NM_000368.5(TSC1):c.2977C>T (p.Leu993Phe)7248TSC1Uncertain significance-1RCV001363694; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772140135772140GA135772140-
NM_000368.5(TSC1):c.2976G>T (p.Arg992Ser)7248TSC1Uncertain significancers1453837305RCV000820251; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772141135772141CA9:g.135772141C>A-
NM_000368.5(TSC1):c.2976-2A>G7248TSC1Uncertain significancers1588288463RCV001017750|RCV001860874|RCV002068954; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772143135772143TC9:g.135772143T>C-
NM_000368.5(TSC1):c.2976-7C>T7248TSC1Likely benign-1RCV001437641; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772148135772148GA135772148-
NM_000368.5(TSC1):c.2976-8T>G7248TSC1Likely benignrs1060504858RCV000469905|RCV001454135; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772149135772149ACNC_000009.11:g.135772149A>CClinGen:CA16612617C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2976-10T>A7248TSC1Uncertain significancers913722609RCV000548030; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772151135772151AT9:g.135772151A>TClinGen:CA200925957C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2976-13G>C7248TSC1Likely benign-1RCV002088112; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772154135772154CG135772154-
NM_000368.5(TSC1):c.2976-14C>G7248TSC1Likely benign-1RCV002164306; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772155135772155GC135772155-
NM_000368.5(TSC1):c.2976-14C>T7248TSC1Likely benign-1RCV002159418; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772155135772155GA135772155-
NM_000368.5(TSC1):c.2976-15C>T7248TSC1Likely benign-1RCV002186059; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772156135772156GA135772156-
NM_000368.5(TSC1):c.2976-16C>T7248TSC1Likely benign-1RCV002198392; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772157135772157GA135772157-
NM_000368.5(TSC1):c.2976-18T>C7248TSC1Likely benignrs397514866RCV000055014|RCV002054884; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772159135772159AG9:g.135772159A>GClinGen:CA007111,Tuberous sclerosis database (TSC1):TSC1_00668C0041341 Tuberous sclerosis syndrome;
NC_000009.12:g.(?_132897164)_(132897630_?)del7248TSC1Uncertain significance-1RCV001032949; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772551135773017nana-1-
NM_000368.5(TSC1):c.2975+13A>G7248TSC1Likely benign-1RCV002095930; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772558135772558TC135772558-
NM_000368.5(TSC1):c.2975+12G>T7248TSC1Likely benign-1RCV002096430; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772559135772559CA135772559-
NM_000368.5(TSC1):c.2975+8C>A7248TSC1Likely benignrs1588289352RCV000936990|RCV001403323; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772563135772563GT9:g.135772563G>T-
NM_000368.5(TSC1):c.2975+7A>T7248TSC1Likely benign-1RCV001392921; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772564135772564TA135772564-
NM_000368.5(TSC1):c.2975+6A>T7248TSC1Uncertain significancers1060503220RCV000460184; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772565135772565TANC_000009.11:g.135772565T>AClinGen:CA16612734C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2975+4G>C7248TSC1Conflicting interpretations of pathogenicityrs1057521710RCV000441290|RCV001231820; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772567135772567CG9:g.135772567C>GClinGen:CA16606309CN169374 not specified;
NM_000368.5(TSC1):c.2975+3A>G7248TSC1Uncertain significance-1RCV001970265; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772568135772568TC135772568-
NM_000368.5(TSC1):c.2974del (p.Arg992fs)7248TSC1Uncertain significancers1554813210RCV000642020; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772572135772572CTC9:g.135772572_135772572delClinGen:CA658797310C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys)7248TSC1Conflicting interpretations of pathogenicityrs200398750RCV000226388|RCV001536549|RCV000573300|RCV001169544; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135772578135772578CT9:g.135772578C>TClinGen:CA035148C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2958_2966dup (p.985AAE[3])7248TSC1Uncertain significance-1RCV001359878; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772579135772580TTGCTGCTTCA135772579-
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val)7248TSC1Uncertain significancers1554813219RCV000535695; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772580135772580GANC_000009.11:g.135772580G>AClinGen:CA375368233C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser)7248TSC1Conflicting interpretations of pathogenicityrs537585211RCV000300433|RCV000868465|RCV001017692|RCV001584094; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772581135772581CANC_000009.11:g.135772581C>AClinGen:CA035133C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2964A>G (p.Ala988=)7248TSC1Benign/Likely benignrs1057520482RCV000559518|RCV001703540; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772582135772582TC9:g.135772582T>CClinGen:CA16606310CN169374 not specified;
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val)7248TSC1Uncertain significance-1RCV002014690; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772583135772583GA135772583-
NM_000368.5(TSC1):c.2960A>G (p.Glu987Gly)7248TSC1Uncertain significancers867884507RCV001305453; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772586135772586TC135772586-
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1])7248TSC1Uncertain significancers767902029RCV000460358; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772589135772597AGCTGCTTCTANC_000009.11:g.135772592_135772600delClinGen:CA035109C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2953G>A (p.Ala985Thr)7248TSC1Uncertain significancers1554813242RCV000641972; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772593135772593CT9:g.135772593C>TClinGen:CA375368313C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly)7248TSC1Uncertain significance-1RCV001903784|RCV002051982; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772598135772598GC135772598-
NM_000368.5(TSC1):c.2947G>T (p.Ala983Ser)7248TSC1Uncertain significancers1845117262RCV001037311; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772599135772599CA9:g.135772599C>A-
NM_000368.5(TSC1):c.2947G>A (p.Ala983Thr)7248TSC1Uncertain significance-1RCV002008556; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772599135772599CT135772599-
NM_000368.5(TSC1):c.2946A>G (p.Lys982=)7248TSC1Uncertain significancers1845117521RCV001165536|RCV001169545; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772600135772600TC9:g.135772600T>C-
NM_000368.5(TSC1):c.2945A>G (p.Lys982Arg)7248TSC1Conflicting interpretations of pathogenicityrs1057520508RCV000428530|RCV001851042; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772601135772601TC9:g.135772601T>CClinGen:CA16606315CN169374 not specified;
NM_000368.5(TSC1):c.2935GAA[2] (p.Glu981del)7248TSC1Uncertain significancers1233796412RCV000696301; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772603135772605TTTCT9:g.135772603_135772605del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2942A>G (p.Glu981Gly)7248TSC1Uncertain significance-1RCV001893171; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772604135772604TC135772604-
NM_000368.5(TSC1):c.2940A>G (p.Glu980=)7248TSC1Likely benignrs557674294RCV000642099; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772606135772606TC9:g.135772606T>CClinGen:CA200926374C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys)7248TSC1Uncertain significancers876658600RCV000213677|RCV000475045; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772608135772608CT9:g.135772608C>TClinGen:CA10578823C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys)7248TSC1Uncertain significancers1845118974RCV001036153; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772611135772611CT9:g.135772611C>T-
NM_000368.5(TSC1):c.2934T>C (p.Leu978=)7248TSC1Likely benignrs1554813253RCV000642072|RCV001017567; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772612135772612AGNC_000009.11:g.135772612A>GClinGen:CA467594406C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg)7248TSC1Uncertain significancers770834438RCV000491384|RCV001856934; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772613135772613ACNC_000009.11:g.135772613A>CClinGen:CA035096C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro)7248TSC1Uncertain significancers770834438RCV000698701|RCV000999257; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772613135772613AG9:g.135772613A>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2933T>A (p.Leu978His)7248TSC1Uncertain significancers770834438RCV001017566|RCV001318587; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772613135772613AT9:g.135772613A>T-
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val)7248TSC1Conflicting interpretations of pathogenicityrs397514859RCV000055001|RCV001081160|RCV000719280|RCV000724068; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C2711754|MedGen:CN5172029135772614135772614GC9:g.135772614G>CClinGen:CA007103,UniProtKB:Q92574#VAR_070661,Tuberous sclerosis database (TSC1):TSC1_00505CN169374 not specified;
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile)7248TSC1Uncertain significancers397514859RCV001318932; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772614135772614GT135772614-
NM_000368.5(TSC1):c.2931del (p.Lys977fs)7248TSC1Uncertain significancers1845120600RCV001322287; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772615135772615GTG135772614-
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg)7248TSC1Benignrs1433723046RCV000534632; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772616135772616TCNC_000009.11:g.135772616T>CClinGen:CA375368448C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu)7248TSC1Conflicting interpretations of pathogenicityrs796053448RCV000189822|RCV000819696|RCV001017516; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772620135772620TC9:g.135772620T>CClinGen:CA319252CN169374 not specified;
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln)7248TSC1Conflicting interpretations of pathogenicityrs549467159RCV000606735|RCV000870405|RCV001017513|RCV001531749; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772622135772622AT9:g.135772622A>TClinGen:CA035074CN169374 not specified;
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)7248TSC1Conflicting interpretations of pathogenicityrs769389702RCV000163671|RCV000231914|RCV001165537|RCV001704175; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN5172029135772624135772624GA9:g.135772624G>AClinGen:CA007094C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2921T>G (p.Leu974Arg)7248TSC1Uncertain significance-1RCV001370708; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772625135772625AC135772625-
NM_000368.5(TSC1):c.2916T>C (p.Asp972=)7248TSC1Likely benign-1RCV002119720; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772630135772630AG135772630-
NM_000368.5(TSC1):c.2915A>G (p.Asp972Gly)7248TSC1Uncertain significance-1RCV001894362; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772631135772631TC135772631-
NM_000368.5(TSC1):c.2914G>A (p.Asp972Asn)7248TSC1Uncertain significancers1845122540RCV001072100; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772632135772632CT9:g.135772632C>T-
NM_000368.5(TSC1):c.2910G>A (p.Glu970=)7248TSC1Likely benignrs762627301RCV000945704|RCV001482309; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772636135772636CT9:g.135772636C>T-
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly)7248TSC1Uncertain significance-1RCV001363060; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772637135772637TC135772637-
NM_000368.5(TSC1):c.2905T>C (p.Leu969=)7248TSC1Likely benign-1RCV001491588; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772641135772641AG135772641-
NM_000368.5(TSC1):c.2904G>A (p.Arg968=)7248TSC1Likely benignrs1554813280RCV000642026|RCV001016895; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772642135772642CTNC_000009.11:g.135772642C>TClinGen:CA467594422C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2901C>T (p.Gly967=)7248TSC1Benignrs774634388RCV000230250; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772645135772645GA9:g.135772645G>AClinGen:CA035000C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2898T>C (p.Tyr966=)7248TSC1Likely benignrs1057522171RCV000418314|RCV001499344; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772648135772648AG9:g.135772648A>GClinGen:CA16605544CN169374 not specified;
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys)7248TSC1Uncertain significance-1RCV002030186; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772649135772649TC135772649-
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His)7248TSC1Conflicting interpretations of pathogenicityrs767946427RCV000558701|RCV000608003|RCV001016839; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772650135772650AG9:g.135772650A>GClinGen:CA034926CN169374 not specified;
NM_000368.5(TSC1):c.2895A>T (p.Leu965Phe)7248TSC1Uncertain significancers750886491RCV001055774; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772651135772651TA9:g.135772651T>A-
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile)7248TSC1Uncertain significancers1060503217RCV000471719|RCV001016836; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772653135772653ATNC_000009.11:g.135772653A>TClinGen:CA16612444C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val)7248TSC1Uncertain significancers1554813302RCV000641981|RCV001771874; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772655135772655TA9:g.135772655T>AClinGen:CA375368774C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn)7248TSC1Uncertain significancers1033463168RCV000689051|RCV001016888; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772656135772656CTNC_000009.11:g.135772656C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2888T>C (p.Leu963Ser)7248TSC1Uncertain significance-1RCV002009175; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772658135772658AG135772658-
NM_000368.5(TSC1):c.2885T>G (p.Ile962Ser)7248TSC1Uncertain significancers1438535722RCV000546303; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772661135772661AC9:g.135772661A>CClinGen:CA375368787C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2885T>A (p.Ile962Asn)7248TSC1Uncertain significancers1438535722RCV001221158; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772661135772661AT9:g.135772661A>T-
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val)7248TSC1Uncertain significancers1227198324RCV001232734; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772662135772662TC9:g.135772662T>C-
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu)7248TSC1Uncertain significance-1RCV002041400; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772662135772662TG135772662-
NM_000368.5(TSC1):c.2883G>C (p.Glu961Asp)7248TSC1Uncertain significance-1RCV001907470; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772663135772663CG135772663-
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly)7248TSC1Uncertain significancers760762170RCV000563196|RCV000796947; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772664135772664TCNC_000009.11:g.135772664T>CClinGen:CA034889C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2880G>A (p.Leu960=)7248TSC1Uncertain significancers1845126730RCV001038241; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772666135772666CT9:g.135772666C>T-
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)7248TSC1Likely benignrs766383986RCV000912695; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772668135772668AG9:g.135772668A>G-
NM_000368.5(TSC1):c.2874T>C (p.Phe958=)7248TSC1Likely benign-1RCV001436006; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772672135772672AG135772672-
NM_000368.5(TSC1):c.2868G>A (p.Gln956=)7248TSC1Likely benign-1RCV002173455; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772678135772678CT135772678-
NM_000368.5(TSC1):c.2867A>T (p.Gln956Leu)7248TSC1Uncertain significancers1212768461RCV000529274; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772679135772679TANC_000009.11:g.135772679T>AClinGen:CA375368831C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg)7248TSC1Uncertain significancers1212768461RCV000642040; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772679135772679TC9:g.135772679T>CClinGen:CA375368832C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)7248TSC1Benign/Likely benignrs45468995RCV000042259|RCV000152157|RCV000163343|RCV000205209|RCV000274884|RCV001725957; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C18469135772681135772681GA9:g.135772681G>AClinGen:CA007079,Tuberous sclerosis database (TSC1):TSC1_00283C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn)7248TSC1Uncertain significancers1488726432RCV000804534; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772682135772682GT9:g.135772682G>T-
NM_000368.5(TSC1):c.2861_2862delinsAC (p.Ile954Asn)7248TSC1Uncertain significancers1564471610RCV000697846; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772684135772685TAGTNC_000009.11:g.135772684_135772685delinsGT-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys)7248TSC1Uncertain significance-1RCV002047105; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772685135772685AT135772685-
NM_000368.5(TSC1):c.2853G>A (p.Gln951=)7248TSC1Likely benign-1RCV002079553; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772693135772693CT135772693-
NM_000368.5(TSC1):c.2848G>T (p.Ala950Ser)7248TSC1Uncertain significancers1845129427RCV001214809; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772698135772698CA9:g.135772698C>A-
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys)7248TSC1Uncertain significancers989183765RCV000467839|RCV001577112; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772703135772703TCNC_000009.11:g.135772703T>CClinGen:CA16612618C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2843A>T (p.Tyr948Phe)7248TSC1Uncertain significancers989183765RCV001233677; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772703135772703TA9:g.135772703T>A-
NM_000368.5(TSC1):c.2841G>T (p.Arg947Ser)7248TSC1Uncertain significancers1417111404RCV000642030; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772705135772705CANC_000009.11:g.135772705C>AClinGen:CA375368894C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2841G>C (p.Arg947Ser)7248TSC1Uncertain significancers1417111404RCV001059540; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772705135772705CG9:g.135772705C>G-
NM_000368.5(TSC1):c.2841G>A (p.Arg947=)7248TSC1Likely benign-1RCV001414645; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772705135772705CT135772705-
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly)7248TSC1Uncertain significancers1845130132RCV001319878; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772707135772707TC135772707-
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn)7248TSC1Uncertain significancers1845130264RCV001049191; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772709135772709CT9:g.135772709C>T-
NM_000368.5(TSC1):c.2836A>T (p.Ser946Cys)7248TSC1Uncertain significancers1060503225RCV000470724; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772710135772710TANC_000009.11:g.135772710T>AClinGen:CA16612619C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly)7248TSC1Uncertain significance-1RCV001866703; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772710135772710TC135772710-
NM_000368.5(TSC1):c.2832A>G (p.Ala944=)7248TSC1Likely benign-1RCV002152103; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772714135772714TC135772714-
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr)7248TSC1Conflicting interpretations of pathogenicityrs751362258RCV000467686|RCV001016721; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772716135772716CTNC_000009.11:g.135772716C>TClinGen:CA034791C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)7248TSC1Uncertain significancers751362258RCV001299152; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772716135772716CA135772716-
NM_000368.5(TSC1):c.2821C>T (p.Leu941=)7248TSC1Likely benign-1RCV001463257; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772725135772725GA135772725-
NM_000368.5(TSC1):c.2819A>C (p.Gln940Pro)7248TSC1Uncertain significancers1845131755RCV001314212; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772727135772727TG135772727-
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)7248TSC1Pathogenic/Likely pathogenicrs1588290078RCV001016672|RCV001250431; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772728135772728GA9:g.135772728G>A-
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val)7248TSC1Uncertain significancers1350545510RCV000575774|RCV001339310; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772730135772730CANC_000009.11:g.135772730C>AClinGen:CA375368946C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg)7248TSC1Uncertain significancers1564471685RCV000707002; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772731135772731CTNC_000009.11:g.135772731C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2814A>C (p.Arg938Ser)7248TSC1Uncertain significancers1439157444RCV000812192; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772732135772732TG9:g.135772732T>G-
NM_000368.5(TSC1):c.2814-2A>G7248TSC1Likely pathogenicrs1588290111RCV000810834; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772734135772734TC9:g.135772734T>C-
NM_000368.5(TSC1):c.2814-7C>T7248TSC1Likely benignrs1060504851RCV000473175; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772739135772739GANC_000009.11:g.135772739G>AClinGen:CA16612621C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2814-9A>G7248TSC1Likely benignrs878853965RCV000226210; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772741135772741TC9:g.135772741T>CClinGen:CA10582623C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2814-11G>A7248TSC1Likely benign-1RCV002164462; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772743135772743CT135772743-
NM_000368.5(TSC1):c.2814-13C>T7248TSC1Likely benign-1RCV002159120; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772745135772745GA135772745-
NM_000368.5(TSC1):c.2814-17T>C7248TSC1Likely benign-1RCV002174043; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772749135772749AG135772749-
NM_000368.5(TSC1):c.2814-18C>T7248TSC1Uncertain significance-1RCV001967526; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772750135772750GA135772750-
NM_000368.5(TSC1):c.2814-19G>A7248TSC1Likely benign-1RCV002167151; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772751135772751CT135772751-
NM_000368.5(TSC1):c.2813+6T>C7248TSC1Uncertain significancers1845135110RCV001067082; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772804135772804AG9:g.135772804A>G-
NM_000368.5(TSC1):c.2813+5C>T7248TSC1Uncertain significancers1060503223RCV000472166; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772805135772805GANC_000009.11:g.135772805G>AClinGen:CA16612623C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2813+2T>G7248TSC1Likely pathogenicrs1845135533RCV001048055; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772808135772808AC9:g.135772808A>C-
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys)7248TSC1Uncertain significancers1249697208RCV000641968; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772810135772810CT9:g.135772810C>TClinGen:CA375368983C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2812A>C (p.Arg938=)7248TSC1Uncertain significancers1207111375RCV000553281; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772811135772811TG9:g.135772811T>GClinGen:CA467812726C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2809G>A (p.Ala937Thr)7248TSC1Uncertain significancers1845136006RCV001217492; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772814135772814CT9:g.135772814C>T-
NM_000368.5(TSC1):c.2808G>A (p.Gln936=)7248TSC1Likely benignrs1588290331RCV000942426|RCV001439972; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772815135772815CT9:g.135772815C>T-
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)7248TSC1Pathogenic/Likely pathogenicrs118203735RCV000042253|RCV000760329|RCV001253033; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772817135772817GA9:g.135772817G>AClinGen:CA007024,Tuberous sclerosis database (TSC1):TSC1_00308C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg)7248TSC1Uncertain significance-1RCV001883348; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772819135772819AC135772819-
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe)7248TSC1Uncertain significance-1RCV001984153; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772820135772820GA135772820-
NM_000368.5(TSC1):c.2797G>T (p.Val933Phe)7248TSC1Uncertain significancers1845136906RCV001352605; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772826135772826CA135772826-
NM_000368.5(TSC1):c.2796T>C (p.Asp932=)7248TSC1Likely benign-1RCV001451821; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772827135772827AG135772827-
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn)7248TSC1Uncertain significance-1RCV001966207; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772829135772829CT135772829-
NM_000368.5(TSC1):c.2792A>C (p.Glu931Ala)7248TSC1Uncertain significancers1845137259RCV001214029; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772831135772831TG9:g.135772831T>G-
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln)7248TSC1Uncertain significancers1845137395RCV001072006; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772832135772832CG9:g.135772832C>G-
NM_000368.5(TSC1):c.2790A>G (p.Leu930=)7248TSC1Likely benign-1RCV001467678; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772833135772833TC135772833-
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=)7248TSC1Benign/Likely benign-1RCV001459025|RCV001567275; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772836135772836AG135772836-
NM_000368.5(TSC1):c.2781G>A (p.Lys927=)7248TSC1Likely benignrs118203733RCV000042250|RCV000473022; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772842135772842CT9:g.135772842C>TClinGen:CA006995,Tuberous sclerosis database (TSC1):TSC1_00195C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2781G>T (p.Lys927Asn)7248TSC1Uncertain significancers118203733RCV001227482; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772842135772842CA9:g.135772842C>A-
NM_000368.5(TSC1):c.2778G>A (p.Gln926=)7248TSC1Likely benignrs1554813423RCV000545375; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772845135772845CTNC_000009.11:g.135772845C>TClinGen:CA467812763C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2778G>C (p.Gln926His)7248TSC1Uncertain significancers1554813423RCV000641958; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772845135772845CG9:g.135772845C>GClinGen:CA375369131C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)7248TSC1Pathogenicrs397514879RCV000055038|RCV001853084; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772847135772847GA9:g.135772847G>AClinGen:CA006974,Tuberous sclerosis database (TSC1):TSC1_00483C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu)7248TSC1Uncertain significancers397514879RCV000816674; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772847135772847GC9:g.135772847G>C-
NM_000368.5(TSC1):c.2774A>T (p.Glu925Val)7248TSC1Uncertain significance-1RCV002031564; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772849135772849TA135772849-
NM_000368.5(TSC1):c.2771_2772insTTTTTATTTTTTATTTTTTTTTTTTTTATTTTTTTTTTAAAGGTAACATTCATCAGTAGCGCAGGTTG7248TSC1Pathogenic-1RCV001386310; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772851135772852CCAAAAGAAGGTGGTCTTTCGGCCGGGCGCGCTGGCGCACGCCAGTAATCCCAGCACTGTGGGAGGCCCAACACGGCGTCTACCGAGGACACGAGAGCGAGANNNNNNNNN135772851-
NM_000368.5(TSC1):c.2768T>C (p.Leu923Pro)7248TSC1Uncertain significance-1RCV001865069; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772855135772855AG135772855-
NM_000368.5(TSC1):c.2766T>G (p.Leu922=)7248TSC1Benign/Likely benignrs546119844RCV000532883|RCV001016536; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772857135772857ACNC_000009.11:g.135772857A>CClinGen:CA034552C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2766T>C (p.Leu922=)7248TSC1Likely benignrs546119844RCV000941457|RCV001471580; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772857135772857AG9:g.135772857A>G-
NM_000368.5(TSC1):c.2764C>T (p.Leu922Phe)7248TSC1Uncertain significancers1011595359RCV001227404; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772859135772859GA9:g.135772859G>A-
NM_000368.5(TSC1):c.2762A>G (p.His921Arg)7248TSC1Uncertain significance-1RCV001920125; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772861135772861TC135772861-
NM_000368.5(TSC1):c.2761C>A (p.His921Asn)7248TSC1Uncertain significancers1588290485RCV000792900; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772862135772862GT9:g.135772862G>T-
NM_000368.5(TSC1):c.2760C>T (p.Asp920=)7248TSC1Likely benignrs1226490074RCV000552329; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772863135772863GANC_000009.11:g.135772863G>AClinGen:CA467812785C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2757A>G (p.Lys919=)7248TSC1Likely benign-1RCV002172403; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772866135772866TC135772866-
NM_000368.5(TSC1):c.2756A>C (p.Lys919Thr)7248TSC1Uncertain significancers1324456435RCV000699632; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772867135772867TG9:g.135772867T>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln)7248TSC1Conflicting interpretations of pathogenicityrs1319954878RCV000539845|RCV000565384; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772868135772868TG9:g.135772868T>GClinGen:CA375369224C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2755A>G (p.Lys919Glu)7248TSC1Uncertain significancers1319954878RCV000696825; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772868135772868TCNC_000009.11:g.135772868T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2753A>G (p.Lys918Arg)7248TSC1Uncertain significancers757025842RCV001047996; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772870135772870TC9:g.135772870T>C-
NM_000368.5(TSC1):c.2753A>C (p.Lys918Thr)7248TSC1Uncertain significance-1RCV001369877; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772870135772870TG135772870-
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro)7248TSC1Uncertain significancers397514873RCV000055021|RCV000531979|RCV001016484; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772874135772874CG9:g.135772874C>GClinGen:CA006954,Tuberous sclerosis database (TSC1):TSC1_00692C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2748G>C (p.Leu916=)7248TSC1Benign/Likely benignrs1588290553RCV001016477|RCV001441712|RCV001675980; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772875135772875CG9:g.135772875C>G-
NM_000368.5(TSC1):c.2748G>A (p.Leu916=)7248TSC1Likely benign-1RCV001453044; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772875135772875CT135772875-
NM_000368.5(TSC1):c.2743_2747del (p.His915fs)7248TSC1Pathogenic-1RCV001994640; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772876135772880CAGGTGC135772875-
NM_000368.5(TSC1):c.2746C>T (p.Leu916=)7248TSC1Likely benign-1RCV001430683; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772877135772877GA135772877-
NM_000368.5(TSC1):c.2745C>T (p.His915=)7248TSC1Likely benign-1RCV001472940; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772878135772878GA135772878-
NM_000368.5(TSC1):c.2739A>G (p.Glu913=)7248TSC1Likely benign-1RCV001491920; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772884135772884TC135772884-
NM_000368.5(TSC1):c.2730G>A (p.Leu910=)7248TSC1Uncertain significancers1845142584RCV001061256; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772893135772893CT9:g.135772893C>T-
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr)7248TSC1Uncertain significancers1374339026RCV001231886; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772897135772897AG9:g.135772897A>G-
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln)7248TSC1Likely benignrs780115763RCV000642018; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772900135772900CT9:g.135772900C>TClinGen:CA034413C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp)7248TSC1Conflicting interpretations of pathogenicityrs748845915RCV000574197|RCV000641971; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772901135772901GA9:g.135772901G>AClinGen:CA034396C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2721del (p.Lys907fs)7248TSC1Pathogenicrs1588290641RCV000815795; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772902135772902GTG9:g.135772902_135772902del-
NM_000368.5(TSC1):c.2718A>G (p.Gln906=)7248TSC1Uncertain significance-1RCV001991636; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772905135772905TC135772905-
NM_000368.5(TSC1):c.2715_2716dup (p.Gln906fs)7248TSC1Pathogenicrs1588290658RCV000801733; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772906135772907TTGG9:g.135772906_135772907insGG-
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)7248TSC1Pathogenicrs118203732RCV000042246|RCV000660339|RCV000627233; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772907135772907GA9:g.135772907G>ATuberous sclerosis database (TSC1):TSC1_00181,ClinGen:CA006937CN517202 not provided;
NM_000368.5(TSC1):c.2711C>T (p.Thr904Ile)7248TSC1Uncertain significancers1564471932RCV000704025; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772912135772912GA9:g.135772912G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2711C>A (p.Thr904Asn)7248TSC1Uncertain significance-1RCV001867394; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772912135772912GT135772912-
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala)7248TSC1Uncertain significancers1554813482RCV000555924; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772913135772913TC9:g.135772913T>CClinGen:CA375369387C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2709T>C (p.Asp903=)7248TSC1Likely benign-1RCV001401770; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772914135772914AG135772914-
NM_000368.5(TSC1):c.2700G>A (p.Gln900=)7248TSC1Benign/Likely benignrs560986491RCV000419788|RCV000468037; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772923135772923CT9:g.135772923C>TClinGen:CA034364CN169374 not specified;
NM_000368.5(TSC1):c.2700G>C (p.Gln900His)7248TSC1Uncertain significancers560986491RCV000707540|RCV001016354; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772923135772923CG9:g.135772923C>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)7248TSC1Pathogenicrs397514871RCV000055019|RCV000201112; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772925135772925GA9:g.135772925G>AClinGen:CA006903,Tuberous sclerosis database (TSC1):TSC1_00520C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2698C>G (p.Gln900Glu)7248TSC1Uncertain significancers397514871RCV001243426; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772925135772925GC9:g.135772925G>C-
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter)7248TSC1Pathogenicrs118203728RCV000042243|RCV000491065|RCV000538905; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772931135772931GA9:g.135772931G>AClinGen:CA006876,Tuberous sclerosis database (TSC1):TSC1_00180C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2691G>T (p.Gln897His)7248TSC1Uncertain significancers372915963RCV001341064; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772932135772932CA135772932-
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu)7248TSC1Uncertain significance-1RCV001923273; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772933135772933TA135772933-
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)7248TSC1Pathogenicrs118203727RCV000042242|RCV000255974|RCV000490863|RCV001797598; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772934135772934GA9:g.135772934G>AClinGen:CA006867,Tuberous sclerosis database (TSC1):TSC1_00369C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2688C>G (p.Leu896=)7248TSC1Likely benign-1RCV001424926; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772935135772935GC135772935-
NM_000368.5(TSC1):c.2686C>T (p.Leu896Phe)7248TSC1Uncertain significancers377132822RCV000701020; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772937135772937GA9:g.135772937G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile)7248TSC1Uncertain significancers377132822RCV000698168; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772937135772937GTNC_000009.11:g.135772937G>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2684T>C (p.Val895Ala)7248TSC1Uncertain significancers1845148114RCV001237852; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772939135772939AG9:g.135772939A>G-
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile)7248TSC1Uncertain significancers576476807RCV000466864; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772940135772940CTNC_000009.11:g.135772940C>TClinGen:CA034261C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2682T>C (p.His894=)7248TSC1Likely benignrs771479673RCV000526463; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772941135772941AG9:g.135772941A>GClinGen:CA034246C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2681A>G (p.His894Arg)7248TSC1Uncertain significancers1588290830RCV000812840; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772942135772942TC9:g.135772942T>C-
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr)7248TSC1Uncertain significancers1845148693RCV001034997; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772943135772943GA9:g.135772943G>A-
NM_000368.5(TSC1):c.2679C>T (p.Ser893=)7248TSC1Likely benign-1RCV002151814; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772944135772944GA135772944-
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg)7248TSC1Benignrs1396314595RCV000688397; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772946135772946TG9:g.135772946T>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)7248TSC1Pathogenicrs118203726RCV000042241|RCV000201049; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772947135772948TTCTNC_000009.11:g.135772948_135772949delClinGen:CA006852,Tuberous sclerosis database (TSC1):TSC1_00179C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs)7248TSC1Pathogenicrs1845149321RCV001199392; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772949135772952CTGTTC9:g.135772949_135772952del-
NM_000368.5(TSC1):c.2674A>T (p.Arg892Ter)7248TSC1Pathogenic-1RCV001987759; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772949135772949TA135772949-
NM_000368.5(TSC1):c.2674del (p.Arg892fs)7248TSC1Pathogenic-1RCV001970210; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772949135772949CTC135772948-
NM_000368.5(TSC1):c.2671_2672dup (p.Asn891fs)7248TSC1Pathogenicrs118203724RCV000042239|RCV001852865; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772950135772951GGTT9:g.135772950_135772951insTTClinGen:CA262309,Tuberous sclerosis database (TSC1):TSC1_00255C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2672dup (p.Asn891fs)7248TSC1Pathogenicrs118203724RCV000042240|RCV000550474|RCV001016278; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772950135772951GGT9:g.135772950_135772951insTTuberous sclerosis database (TSC1):TSC1_00178,ClinGen:CA262310C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2672del (p.Asn891fs)7248TSC1Pathogenicrs118203724RCV000055029|RCV000201176; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772951135772951GTG9:g.135772951_135772951delClinGen:CA006842,Tuberous sclerosis database (TSC1):TSC1_00465C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser)7248TSC1Conflicting interpretations of pathogenicityrs1060503203RCV000475479|RCV000829005|RCV001016277; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772951135772951TCNC_000009.11:g.135772951T>CClinGen:CA16612565C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu)7248TSC1Uncertain significance-1RCV001954077; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772955135772955TC135772955-
NM_000368.5(TSC1):c.2667A>G (p.Glu889=)7248TSC1Benign/Likely benignrs1554813546RCV000569168|RCV000900949|RCV001490074; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772956135772956TCNC_000009.11:g.135772956T>CClinGen:CA467813059C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile)7248TSC1Conflicting interpretations of pathogenicityrs587778724RCV000122193|RCV000468584|RCV000566373; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135772957135772958TCATNC_000009.11:g.135772957_135772958delinsATClinGen:CA006829C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2664A>G (p.Leu888=)7248TSC1Likely benign-1RCV001461882; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772959135772959TC135772959-
NM_000368.5(TSC1):c.2658A>G (p.Lys886=)7248TSC1Benign/Likely benignrs368212910RCV000466187|RCV001418334; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772965135772965TCNC_000009.11:g.135772965T>CClinGen:CA034133C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln)7248TSC1Conflicting interpretations of pathogenicityrs200514807RCV000176157|RCV000571983|RCV001088675; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772969135772969CT9:g.135772969C>TClinGen:CA006799C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp)7248TSC1Conflicting interpretations of pathogenicityrs118203723RCV000042238|RCV000457663|RCV001016218|RCV001084137; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772970135772970GA9:g.135772970G>AClinGen:CA006792,Tuberous sclerosis database (TSC1):TSC1_00238C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys)7248TSC1Uncertain significancers1449821288RCV000808604; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772972135772972TC9:g.135772972T>C-
NM_000368.5(TSC1):c.2649C>G (p.Ala883=)7248TSC1Likely benign-1RCV002163667; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772974135772974GC135772974-
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr)7248TSC1Benign/Likely benignrs118203721RCV000042236|RCV000234628|RCV000561284|RCV001703927; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135772976135772976CT9:g.135772976C>TClinGen:CA006773,UniProtKB:Q92574#VAR_070660,Tuberous sclerosis database (TSC1):TSC1_00438C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)7248TSC1Benign/Likely benignrs118203720RCV000042235|RCV000054945|RCV000125633|RCV000163300|RCV000231700|RCV000384965|RCV001528699; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Huma9135772977135772977GA9:g.135772977G>AClinGen:CA006768,Tuberous sclerosis database (TSC1):TSC1_00176C0005684 109800 Bladder cancer, somatic;
NM_000368.5(TSC1):c.2645C>T (p.Ala882Val)7248TSC1Uncertain significancers1554813594RCV000542540; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772978135772978GA9:g.135772978G>AClinGen:CA375369645C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2644G>A (p.Ala882Thr)7248TSC1Uncertain significancers1271658593RCV001222026; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772979135772979CT9:g.135772979C>T-
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)7248TSC1Uncertain significancers1218889799RCV000642015; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772983135772983CANC_000009.11:g.135772983C>AClinGen:CA375369669C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile)7248TSC1Uncertain significancers1218889799RCV001057124; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772983135772983CT9:g.135772983C>T-
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile)7248TSC1Uncertain significancers1554813610RCV000525563; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772986135772986CTNC_000009.11:g.135772986C>TClinGen:CA375369689C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile)7248TSC1Uncertain significancers1554813610RCV000642041; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772986135772986CANC_000009.11:g.135772986C>AClinGen:CA375369686C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2637G>C (p.Met879Ile)7248TSC1Uncertain significancers1554813610RCV001296291; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772986135772986CG135772986-
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr)7248TSC1Conflicting interpretations of pathogenicityrs754457018RCV000817447|RCV001167131; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135772987135772987AG9:g.135772987A>G-
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)7248TSC1Uncertain significancers778416424RCV001227729|RCV001575745; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135772988135772988TC9:g.135772988T>C-
NM_000368.5(TSC1):c.2635del (p.Glu878_Met879insTer)7248TSC1Pathogenic-1RCV001951149; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772988135772988ATA135772987-
NM_000368.5(TSC1):c.2630T>C (p.Val877Ala)7248TSC1Uncertain significancers1564472328RCV000694246; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772993135772993AG9:g.135772993A>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile)7248TSC1Uncertain significancers1321117036RCV001070184; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772994135772994CT9:g.135772994C>T-
NM_000368.5(TSC1):c.2628A>G (p.Glu876=)7248TSC1Likely benignrs1588291185RCV000977975|RCV001493156; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772995135772995TC9:g.135772995T>C-
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys)7248TSC1Uncertain significancers747602915RCV000641988; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772997135772997CTNC_000009.11:g.135772997C>TClinGen:CA375369729C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)7248TSC1Pathogenicrs747602915RCV000760325|RCV001028066; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772997135772997CANC_000009.11:g.135772997C>A-
NM_000368.5(TSC1):c.2626-1G>A7248TSC1Pathogenic/Likely pathogenicrs397514847RCV000054985|RCV001250494; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772998135772998CT9:g.135772998C>TClinGen:CA006719,Tuberous sclerosis database (TSC1):TSC1_00648C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2626-2A>G7248TSC1Likely pathogenicrs118203717RCV000042233|RCV000793960; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135772999TC9:g.135772999T>CClinGen:CA006734,Tuberous sclerosis database (TSC1):TSC1_00234C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2626-3dup7248TSC1Benign/Likely benignrs1554813639RCV000485875|RCV000536110; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135773000TTGNC_000009.11:g.135773000dupClinGen:CA16618765CN169374 not specified;
NM_000368.5(TSC1):c.2626-3_2626-2insTT7248TSC1Benignrs760737807RCV000560080|RCV002060326; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135773000TTAANC_000009.11:g.135772999_135773000insAAClinGen:CA5301757C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2626-2A>C7248TSC1Likely pathogenicrs118203717RCV000699092; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135772999TGNC_000009.11:g.135772999T>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2626-3_2626-2insT7248TSC1Likely benignrs760737807RCV000988272; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135773000TTA9:g.135772999_135773000insA-
NM_000368.5(TSC1):c.2626-3_2626-2insTTT7248TSC1Uncertain significancers760737807RCV001057187; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135772999135773000TTAAA9:g.135772999_135773000insAAA-
NM_000368.5(TSC1):c.2626-4dup7248TSC1Benignrs5901000RCV000176156|RCV000202711|RCV000588303; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135773000135773001GGA9:g.135773000_135773001insAClinGen:CA213380CN517202 not provided;
NM_000368.5(TSC1):c.2626-21_2626-19dup7248TSC1Conflicting interpretations of pathogenicityrs5901000RCV000338735|RCV000394927|RCV000588188|RCV000549565|RCV001579345; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135773000135773001GGAAA9:g.135773000_135773001insAAAClinGen:CA5301759C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2626-3C>T7248TSC1Conflicting interpretations of pathogenicityrs1060503192RCV000460170|RCV001703175; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135773000135773000GANC_000009.11:g.135773000G>AClinGen:CA16612736C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2626-4_2626-3insTC7248TSC1Likely benignrs1554813651RCV000548607; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773000135773001GGGA9:g.135773000_135773001insGAClinGen:CA658656063C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2626-5_2626-4dup7248TSC1Benignrs5901000RCV000202910|RCV000586176|RCV001796128; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MedGen:CN1693749135773000135773001GGAA9:g.135773000_135773001insAAClinGen:CA242026CN517202 not provided;
NM_001162426.2(TSC1):c.2623-4_2623-3insTG7248TSC1Uncertain significance-1RCV001368762; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773000135773001GGAC135773000-
NC_000009.11:g.135773000_135773001insCA7248TSC1Likely benign-1RCV002076361; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773000135773001GGCA135773000-
NM_000368.5(TSC1):c.2626-4del7248TSC1Benignrs5901000RCV000042234|RCV000313026|RCV000586305|RCV001514617|RCV001795035; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN1693749135773001135773001GAG9:g.135773001_135773001delClinGen:CA006747,Tuberous sclerosis database (TSC1):TSC1_00277C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2626-5_2626-4del7248TSC1Benignrs5901000RCV000176158|RCV001520755|RCV001668337|RCV002221210; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:5389135773001135773002GAAG9:g.135773001_135773002delClinGen:CA006754CN169374 not specified;
NM_000368.5(TSC1):c.2626-4T>C7248TSC1Benign/Likely benignrs777386691RCV000556471|RCV001722483; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135773001135773001AG9:g.135773001A>GClinGen:CA033929CN169374 not specified;
NM_000368.5(TSC1):c.2626-4T>A7248TSC1Likely benignrs777386691RCV000924734|RCV001460008; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773001135773001AT9:g.135773001A>T-
NM_000368.5(TSC1):c.2626-5T>G7248TSC1Uncertain significancers1444272064RCV000822081; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773002135773002AC9:g.135773002A>C-
NM_000368.5(TSC1):c.2626-5T>C7248TSC1Benignrs1444272064RCV000927009|RCV001518901; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773002135773002AG9:g.135773002A>G-
NM_000368.5(TSC1):c.2626-6_2626-5insTC7248TSC1Likely benignrs1256355250RCV000942808; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773002135773003AAAG9:g.135773002_135773003insAG-
NM_000368.5(TSC1):c.2626-8T>C7248TSC1Likely benignrs1588291364RCV000926972; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773005135773005AG9:g.135773005A>G-
NM_000368.5(TSC1):c.2626-9_2626-8insTG7248TSC1Likely benignrs1251149647RCV000937624|RCV001431020; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773005135773006AAAC9:g.135773005_135773006insAC-
NM_000368.5(TSC1):c.2626-9T>C7248TSC1Likely benignrs1588291375RCV000977097; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135773006135773006AG9:g.135773006A>G-
NM_000368.5(TSC1):c.2625+357_2625+372del7248TSC1Uncertain significancers1845301667RCV001245404; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135775730135775745ATGGTATGTACAGCACTA9:g.135775730_135775745del-
NM_000368.5(TSC1):c.2625+367A>G7248TSC1Pathogenic/Likely pathogenicrs1564474542RCV000705549|RCV001726314; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135775735135775735TCNC_000009.11:g.135775735T>C-C1854465 191100 Tuberous sclerosis 1;
NC_000009.12:g.(?_132900348)_(132921993_?)del7248TSC1Pathogenic-1RCV001032147; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135775735135797380nana-1-
NM_000368.5(TSC1):c.2625+367del7248TSC1Likely benign-1RCV001482136; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135775735135775735ATA135775734-
NC_000009.11:g.(?_135775735)_(135820530_?)del7248TSC1Pathogenic-1RCV001962890; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135775735135820530nana-1-
NM_000368.5(TSC1):c.2625+20C>G7248TSC1Likely benign-1RCV002080925; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776082135776082GC135776082-
NM_000368.5(TSC1):c.2625+19G>A7248TSC1Benign/Likely benignrs200135828RCV000248833|RCV001797697; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776083135776083CTNC_000009.11:g.135776083C>TClinGen:CA033565CN169374 not specified;
NM_000368.5(TSC1):c.2625+17G>A7248TSC1Likely benign-1RCV002184984; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776085135776085CT135776085-
NM_000368.5(TSC1):c.2625+15G>A7248TSC1Likely benignrs565234395RCV000418796|RCV002062677; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776087135776087CT9:g.135776087C>TClinGen:CA033550CN169374 not specified;
NM_000368.5(TSC1):c.2625+14C>G7248TSC1Likely benign-1RCV002178008; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776088135776088GC135776088-
NM_000368.5(TSC1):c.2625+14C>T7248TSC1Likely benign-1RCV002187497; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776088135776088GA135776088-
NM_000368.5(TSC1):c.2625+9G>C7248TSC1Likely benign-1RCV002108856; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776093135776093CG135776093-
NM_000368.5(TSC1):c.2625+9G>T7248TSC1Likely benign-1RCV002087156; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776093135776093CA135776093-
NM_000368.5(TSC1):c.2625+7C>T7248TSC1Likely benign-1RCV002091005; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776095135776095GA135776095-
NM_000368.5(TSC1):c.2625+4T>G7248TSC1Uncertain significancers1588297117RCV000823414; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776098135776098AC9:g.135776098A>C-
NM_000368.5(TSC1):c.2625+4T>A7248TSC1Uncertain significance-1RCV001886611; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776098135776098AT135776098-
NM_000368.5(TSC1):c.2625+3A>G7248TSC1Uncertain significance-1RCV001863633; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776099135776099TC135776099-
NC_000009.11:g.(?_135776102)_(135787844_?)dup7248TSC1Pathogenic-1RCV000707975; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776102135787844nana-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2625G>T (p.Lys875Asn)7248TSC1Uncertain significancers777437357RCV001352604; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776102135776102CA135776102-
NM_000368.5(TSC1):c.2622A>G (p.Thr874=)7248TSC1Likely benign-1RCV002156313; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776105135776105TC135776105-
NM_000368.5(TSC1):c.2621C>T (p.Thr874Ile)7248TSC1Uncertain significance-1RCV001866850; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776106135776106GA135776106-
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro)7248TSC1Uncertain significancers1554814368RCV000562317|RCV001859977; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776107135776107TGNC_000009.11:g.135776107T>GClinGen:CA375369840C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2614G>C (p.Asp872His)7248TSC1Uncertain significancers746607455RCV000458622|RCV001016107; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135776113135776113CGNC_000009.11:g.135776113C>GClinGen:CA16612739C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn)7248TSC1Uncertain significancers746607455RCV001342550; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776113135776113CT135776113-
NM_000368.5(TSC1):c.2613A>G (p.Ser871=)7248TSC1Likely benignrs1031508405RCV000546764; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776114135776114TC9:g.135776114T>CClinGen:CA200929047C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2612C>T (p.Ser871Leu)7248TSC1Uncertain significancers1166302175RCV001348512; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776115135776115GA135776115-
NM_000368.5(TSC1):c.2612C>G (p.Ser871Ter)7248TSC1Pathogenic-1RCV001938681; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776115135776115GC135776115-
NM_000368.5(TSC1):c.2609A>G (p.His870Arg)7248TSC1Uncertain significancers1845327392RCV001307916; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776118135776118TC135776118-
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn)7248TSC1Uncertain significancers1845327520RCV001060615|RCV001772280; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135776120135776120CG9:g.135776120C>G-
NM_000368.5(TSC1):c.2607G>A (p.Lys869=)7248TSC1Likely benign-1RCV001490687; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776120135776120CT135776120-
NM_000368.5(TSC1):c.2606A>G (p.Lys869Arg)7248TSC1Uncertain significancers1588297197RCV000795404; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776121135776121TC9:g.135776121T>C-
NM_000368.5(TSC1):c.2605A>T (p.Lys869Ter)7248TSC1Pathogenicrs1845327789RCV001065555; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776122135776122TA9:g.135776122T>A-
NM_000368.5(TSC1):c.2604C>T (p.Asn868=)7248TSC1Benign/Likely benignrs147163264RCV000543123|RCV001016081; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135776123135776123GANC_000009.11:g.135776123G>AClinGen:CA033487C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2601G>A (p.Gln867=)7248TSC1Likely benign-1RCV002199956; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776126135776126CT135776126-
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter)7248TSC1Pathogenic-1RCV001385425; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776128135776128GA135776128-
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)7248TSC1Pathogenicrs886039662RCV000255336|RCV001859489; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776134135776134GA9:g.135776134G>AClinGen:CA10588469CN517202 not provided;
NM_000368.5(TSC1):c.2590G>T (p.Glu864Ter)7248TSC1Pathogenicrs1845328711RCV001042431; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776137135776137CA9:g.135776137C>A-
NM_000368.5(TSC1):c.2585A>G (p.Tyr862Cys)7248TSC1Uncertain significancers1060503221RCV000464287; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776142135776142TCNC_000009.11:g.135776142T>CClinGen:CA16612567C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2582del (p.Leu861fs)7248TSC1Pathogenicrs397514865RCV000055013|RCV001199391; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776145135776145GAG9:g.135776145_135776145delTuberous sclerosis database (TSC1):TSC1_00709,ClinGen:CA006685C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2580G>A (p.Glu860=)7248TSC1Likely benign-1RCV002214658; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776147135776147CT135776147-
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys)7248TSC1Uncertain significance-1RCV002047260; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776149135776149CT135776149-
NM_000368.5(TSC1):c.2577C>T (p.Asn859=)7248TSC1Benign/Likely benignrs781553258RCV000166353|RCV000926655|RCV001472868; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776150135776150GA9:g.135776150G>AClinGen:CA006673C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2576A>G (p.Asn859Ser)7248TSC1Uncertain significance-1RCV001368469; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776151135776151TC135776151-
NM_000368.5(TSC1):c.2574C>A (p.Val858=)7248TSC1Likely benignrs1588297282RCV000940785|RCV001408721; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776153135776153GT9:g.135776153G>T-
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)7248TSC1Uncertain significancers1845329722RCV001203070; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776155135776155CT9:g.135776155C>T-
NM_000368.5(TSC1):c.2545_2566del (p.Asn849fs)7248TSC1Pathogenicrs1564474974RCV000694011; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776161135776182CCAAGAACCAACAGCTGCCTGTTCNC_000009.11:g.135776168_135776189del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2565T>A (p.Leu855=)7248TSC1Uncertain significancers1845331038RCV001339634; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776162135776162AT135776162-
NM_000368.5(TSC1):c.2564T>C (p.Leu855Pro)7248TSC1Uncertain significancers1845331236RCV001242480; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776163135776163AG9:g.135776163A>G-
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)7248TSC1Pathogenicrs118203711RCV000042227|RCV000679899; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776165135776168GAACCG9:g.135776165_135776168delClinGen:CA006647,Tuberous sclerosis database (TSC1):TSC1_00408C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2557T>C (p.Leu853=)7248TSC1Likely benign-1RCV001491239; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776170135776170AG135776170-
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)7248TSC1Conflicting interpretations of pathogenicityrs770381040RCV000394856|RCV000530667|RCV000828747|RCV001015949; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135776171135776171CG9:g.135776171C>GClinGen:CA033432C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2556G>T (p.Leu852=)7248TSC1Likely benignrs770381040RCV000930147; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776171135776171CA9:g.135776171C>A-
NM_000368.5(TSC1):c.2556del (p.Leu853fs)7248TSC1Pathogenic-1RCV001941365; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776171135776171ACA135776170-
NM_000368.5(TSC1):c.2551C>G (p.Gln851Glu)7248TSC1Uncertain significancers1588297391RCV000812934; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776176135776176GC9:g.135776176G>C-
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter)7248TSC1Pathogenicrs1588297391RCV001015906|RCV001860807; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776176135776176GA9:g.135776176G>A-
NM_000368.5(TSC1):c.2549G>A (p.Arg850Lys)7248TSC1Uncertain significancers1060503195RCV000475792; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776178135776178CTNC_000009.11:g.135776178C>TClinGen:CA16612745C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2547C>G (p.Asn849Lys)7248TSC1Uncertain significancers1554814418RCV000559171; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776180135776180GC9:g.135776180G>CClinGen:CA375370165C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2547del (p.Asn849fs)7248TSC1Pathogenic-1RCV001380315; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776180135776180TGT135776179-
NM_000368.5(TSC1):c.2547C>T (p.Asn849=)7248TSC1Likely benign-1RCV001466466; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776180135776180GA135776180-
NM_000368.5(TSC1):c.2547C>A (p.Asn849Lys)7248TSC1Uncertain significance-1RCV001981241; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776180135776180GT135776180-
NM_000368.5(TSC1):c.2542T>C (p.Leu848=)7248TSC1Likely benign-1RCV001460654; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776185135776185AG135776185-
NM_000368.5(TSC1):c.2532G>A (p.Gln844=)7248TSC1Likely benign-1RCV001407797; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776195135776195CT135776195-
NM_000368.5(TSC1):c.2527C>G (p.Gln843Glu)7248TSC1Uncertain significance-1RCV001369075; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776200135776200GC135776200-
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)7248TSC1Pathogenicrs1447417010RCV000529738|RCV000760377; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135776203135776203GA9:g.135776203G>AClinGen:CA375370274C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2523C>T (p.Val841=)7248TSC1Likely benignrs397514825RCV000054957|RCV001487920; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776204135776204GA9:g.135776204G>AClinGen:CA006623,Tuberous sclerosis database (TSC1):TSC1_00708C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe)7248TSC1Uncertain significance-1RCV001901293; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776206135776206CA135776206-
NM_000368.5(TSC1):c.2520G>A (p.Ser840=)7248TSC1Benign/Likely benignrs547498792RCV000228933|RCV001582763; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135776207135776207CTNC_000009.11:g.135776207C>TClinGen:CA033351C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2520G>C (p.Ser840=)7248TSC1Likely benign-1RCV001426209; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776207135776207CG135776207-
NM_000368.5(TSC1):c.2519C>T (p.Ser840Leu)7248TSC1Uncertain significancers1564475110RCV000691792; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776208135776208GANC_000009.11:g.135776208G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs)7248TSC1Pathogenicrs794727320RCV000176033|RCV000724294; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135776209135776212GACTCG9:g.135776209_135776212delClinGen:CA006613C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2517G>A (p.Glu839=)7248TSC1Likely benignrs1554814437RCV000553825; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776210135776210CT9:g.135776210C>TClinGen:CA467594487C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys)7248TSC1Uncertain significance-1RCV001370930; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776212135776212CT135776212-
NM_000368.5(TSC1):c.2514T>C (p.Ser838=)7248TSC1Likely benignrs786203259RCV000166487|RCV001464585; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776213135776213AG9:g.135776213A>GClinGen:CA006606C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2513G>A (p.Ser838Asn)7248TSC1Uncertain significancers1060503208RCV000475975; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776214135776214CTNC_000009.11:g.135776214C>TClinGen:CA16612624C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr)7248TSC1Uncertain significancers1060503208RCV001227429; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776214135776214CG9:g.135776214C>G-
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)7248TSC1Pathogenicrs118203707RCV000042222|RCV000201118|RCV000415443|RCV000522266|RCV001198554; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human9135776215135776218CTGTTC9:g.135776215_135776218delTuberous sclerosis database (TSC1):TSC1_00170,Tuberous sclerosis database (TSC1):TSC1_00233,ClinGen:CA006569C1968959 Cortical tubers;
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly)7248TSC1Uncertain significancers1845335475RCV001305812; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776215135776215TC135776215-
NM_000368.5(TSC1):c.2510dup (p.Asn837fs)7248TSC1Pathogenicrs118203709RCV000042224|RCV000541372; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776216135776217GGT9:g.135776216_135776217insTClinGen:CA262301,Tuberous sclerosis database (TSC1):TSC1_00171C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2511C>T (p.Asn837=)7248TSC1Likely benignrs1554814448RCV000642095|RCV001494320; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776216135776216GANC_000009.11:g.135776216G>AClinGen:CA467594488C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2508A>C (p.Ser836=)7248TSC1Benign/Likely benignrs1554814456RCV000533467|RCV000563053|RCV001408629; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776219135776219TG9:g.135776219T>GClinGen:CA467594491C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2508A>G (p.Ser836=)7248TSC1Likely benign-1RCV002104790; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776219135776219TC135776219-
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter)7248TSC1Pathogenicrs118203706RCV000042220|RCV000796200|RCV001015787; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135776220135776220GC9:g.135776220G>CClinGen:CA006565,Tuberous sclerosis database (TSC1):TSC1_00169C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2506T>C (p.Ser836Pro)7248TSC1Uncertain significancers1845336311RCV001204770; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776221135776221AG9:g.135776221A>G-
NM_000368.5(TSC1):c.2505C>T (p.Leu835=)7248TSC1Benign/Likely benignrs112384441RCV000054886|RCV000230511|RCV000422004|RCV000569110; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135776222135776222GA9:g.135776222G>AClinGen:CA006556,Tuberous sclerosis database (TSC1):TSC1_00472C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2503-1G>C7248TSC1Pathogenic-1RCV001706864; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776225135776225CG135776225-
NM_000368.5(TSC1):c.2503-2A>G7248TSC1Pathogenicrs118203704RCV000042218|RCV000988273; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776226135776226TC9:g.135776226T>CClinGen:CA006547,Tuberous sclerosis database (TSC1):TSC1_00367C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2503-3T>C7248TSC1Uncertain significancers1355806067RCV000552922; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776227135776227AG9:g.135776227A>GClinGen:CA591056821C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2503-4T>G7248TSC1Conflicting interpretations of pathogenicityrs772414581RCV001015735|RCV001413351; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776228135776228AC9:g.135776228A>C-
NM_000368.5(TSC1):c.2503-4T>C7248TSC1Likely benign-1RCV001398965; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776228135776228AG135776228-
NM_000368.5(TSC1):c.2503-9T>G7248TSC1Likely benign-1RCV001474407; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776233135776233AC135776233-
NM_000368.5(TSC1):c.2503-10T>A7248TSC1Uncertain significance-1RCV001958428; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776234135776234AT135776234-
NM_000368.5(TSC1):c.2503-11T>A7248TSC1Conflicting interpretations of pathogenicity-1RCV001558308|RCV002072106; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776235135776235AT135776235-
NM_000368.5(TSC1):c.2503-11T>G7248TSC1Conflicting interpretations of pathogenicity-1RCV001764936|RCV002074006; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776235135776235AC135776235-
NM_000368.5(TSC1):c.2503-12T>G7248TSC1Likely benign-1RCV002176957; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776236135776236AC135776236-
NM_000368.5(TSC1):c.2503-12T>C7248TSC1Likely benign-1RCV002120377; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776236135776236AG135776236-
NM_000368.5(TSC1):c.2503-13G>A7248TSC1Likely benign-1RCV002090913; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776237135776237CT135776237-
NM_000368.5(TSC1):c.2503-15A>G7248TSC1Likely benignrs752540347RCV000613174|RCV002062996; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776239135776239TC9:g.135776239T>CClinGen:CA033065CN169374 not specified;
NM_000368.5(TSC1):c.2503-16C>A7248TSC1Likely benign-1RCV002163023; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776240135776240GT135776240-
NM_000368.5(TSC1):c.2503-20T>G7248TSC1Likely benign-1RCV002028631; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776244135776244AC135776244-
NM_000368.5(TSC1):c.2503-20T>C7248TSC1Likely benign-1RCV002205457; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776244135776244AG135776244-
NM_000368.5(TSC1):c.2209-258_2502+101del7248TSC1Pathogenic-1RCV001257302; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776875135778432ATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGA9:g.135776875_135776973del-
NM_000368.5(TSC1):c.2502+18A>C7248TSC1Benignrs200908079RCV000125632|RCV002055588; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776958135776958TG9:g.135776958T>GClinGen:CA006521CN169374 not specified;
NM_000368.5(TSC1):c.2502+8_2502+10del7248TSC1Likely benignrs762882968RCV000475608; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776966135776968TTTCTNC_000009.11:g.135776968CTT[1]ClinGen:CA032978C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2502+2_2502+9del7248TSC1Likely pathogenicrs1588298866RCV000797529; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776967135776974TTCTTCTTAT9:g.135776967_135776974del-
NM_000368.5(TSC1):c.2502+8G>T7248TSC1Likely benign-1RCV001406421; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776968135776968CA135776968-
NM_000368.5(TSC1):c.2502+3A>G7248TSC1Uncertain significancers1349115830RCV001054576; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776973135776973TC9:g.135776973T>C-
NM_000368.5(TSC1):c.2499A>G (p.Gln833=)7248TSC1Benign/Likely benignrs1554814615RCV000608280|RCV000942875|RCV001440862; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776979135776979TC9:g.135776979T>CClinGen:CA467590424CN169374 not specified;
NM_000368.5(TSC1):c.2498_2499inv (p.Gln833Leu)7248TSC1Uncertain significance-1RCV001914159; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776979135776980TTAA135776979-
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe)7248TSC1Uncertain significancers773279842RCV000458112; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776987135776987CANC_000009.11:g.135776987C>AClinGen:CA16612626C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2491G>A (p.Val831Ile)7248TSC1Uncertain significancers773279842RCV000641983; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776987135776987CT9:g.135776987C>TClinGen:CA375358263C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2490G>A (p.Gln830=)7248TSC1Likely benign-1RCV002172545; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776988135776988CT135776988-
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)7248TSC1Pathogenicrs1564475884RCV000689532; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776990135776990GA9:g.135776990G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2486G>A (p.Ser829Asn)7248TSC1Uncertain significancers1202468122RCV001066892; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776992135776992CT9:g.135776992C>T-
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg)7248TSC1Benign/Likely benignrs118203699RCV000042213|RCV000464791|RCV000576111|RCV001539406; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135776993135776993TG9:g.135776993T>GClinGen:CA006502,UniProtKB:Q92574#VAR_009411,Tuberous sclerosis database (TSC1):TSC1_00366C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2480T>C (p.Leu827Pro)7248TSC1Uncertain significancers1845374191RCV001310016; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135776998135776998AG135776998-
NM_000368.5(TSC1):c.2478G>C (p.Leu826=)7248TSC1Benign/Likely benignrs149719514RCV000054915|RCV000230900|RCV000720630|RCV001697039; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C2711754|MedGen:CN5172029135777000135777000CG9:g.135777000C>GClinGen:CA006499,Tuberous sclerosis database (TSC1):TSC1_00474CN169374 not specified;
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)7248TSC1Likely benignrs149719514RCV000904542; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777000135777000CT9:g.135777000C>T-
NM_000368.5(TSC1):c.2472T>G (p.Thr824=)7248TSC1Likely benignrs762811821RCV000463172; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777006135777006ACNC_000009.11:g.135777006A>CClinGen:CA032748C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2472T>A (p.Thr824=)7248TSC1Uncertain significancers762811821RCV000797846; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777006135777006AT9:g.135777006A>T-
NM_000368.5(TSC1):c.2471C>A (p.Thr824Asn)7248TSC1Uncertain significancers1845375284RCV001339943; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777007135777007GT135777007-
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)7248TSC1Uncertain significancers1554814639RCV000540423|RCV001814185; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135777008135777008TC9:g.135777008T>CClinGen:CA375358306C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2463G>C (p.Val821=)7248TSC1Likely benign-1RCV001470547; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777015135777015CG135777015-
NM_000368.5(TSC1):c.2463G>A (p.Val821=)7248TSC1Likely benign-1RCV001498549; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777015135777015CT135777015-
NM_000368.5(TSC1):c.2461G>A (p.Val821Met)7248TSC1Uncertain significancers1845376276RCV001053017; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777017135777017CT9:g.135777017C>T-
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg)7248TSC1Uncertain significancers1369700443RCV000705362|RCV001015606|RCV001167132; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135777019135777019TC9:g.135777019T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del)7248TSC1Uncertain significancers1588299112RCV000800186; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777019135777021CTTGC9:g.135777019_135777021del-
NM_000368.5(TSC1):c.2458A>G (p.Lys820Glu)7248TSC1Uncertain significancers1845376841RCV001222259; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777020135777020TC9:g.135777020T>C-
NM_000368.5(TSC1):c.2457C>T (p.Asn819=)7248TSC1Likely benign-1RCV001400300; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777021135777021GA135777021-
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys)7248TSC1Uncertain significance-1RCV001370391; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777024135777024GC135777024-
NM_000368.5(TSC1):c.2454C>A (p.Asn818Lys)7248TSC1Uncertain significance-1RCV001969213; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777024135777024GT135777024-
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val)7248TSC1Uncertain significancers1845377267RCV001346442; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777028135777028GA135777028-
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser)7248TSC1Uncertain significancers1554814652RCV000641969; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777029135777029CANC_000009.11:g.135777029C>AClinGen:CA375358553C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)7248TSC1Benign/Likely benignrs1588299142RCV000928456|RCV001731979; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135777030135777030CT9:g.135777030C>T-
NM_000368.5(TSC1):c.2443AAG[1] (p.Lys816del)7248TSC1Uncertain significance-1RCV002051250; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777030135777032CCTTC135777029-
NM_000368.5(TSC1):c.2445G>C (p.Lys815Asn)7248TSC1Uncertain significancers1845377926RCV001306681; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777033135777033CG135777033-
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr)7248TSC1Uncertain significancers1588299170RCV001015564|RCV001372596; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777034135777034TG9:g.135777034T>G-
NM_000368.5(TSC1):c.2442G>A (p.Leu814=)7248TSC1Likely benign-1RCV002153081; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777036135777036CT135777036-
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer)7248TSC1Pathogenicrs1588299201RCV000988274; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777038135777038AGA9:g.135777038_135777038del-
NM_000368.5(TSC1):c.2440C>T (p.Leu814=)7248TSC1Likely benign-1RCV002120576; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777038135777038GA135777038-
NM_000368.5(TSC1):c.2438A>G (p.Glu813Gly)7248TSC1Uncertain significancers1554814657RCV000641982; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777040135777040TCNC_000009.11:g.135777040T>CClinGen:CA375358595C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val)7248TSC1Uncertain significancers751128287RCV001247178|RCV001773564; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135777044135777044TC9:g.135777044T>C-
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln)7248TSC1Conflicting interpretations of pathogenicityrs761281095RCV000823084|RCV001015512|RCV001568061; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135777046135777046CT9:g.135777046C>T-
NM_000368.5(TSC1):c.2431C>G (p.Arg811Gly)7248TSC1Uncertain significancers397514814RCV000054939|RCV000641963; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777047135777047GC9:g.135777047G>CClinGen:CA006430,UniProtKB:Q92574#VAR_070659,Tuberous sclerosis database (TSC1):TSC1_00504C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp)7248TSC1Uncertain significancers397514814RCV000804741; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777047135777047GA9:g.135777047G>A-
NM_000368.5(TSC1):c.2430G>A (p.Leu810=)7248TSC1Likely benign-1RCV001438426; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777048135777048CT135777048-
NM_000368.5(TSC1):c.2427G>A (p.Glu809=)7248TSC1Likely benign-1RCV002176409; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777051135777051CT135777051-
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln)7248TSC1Benign/Likely benignrs118203692RCV000042205|RCV000227608|RCV000574658|RCV001082222; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777053135777053CG9:g.135777053C>GClinGen:CA006422,UniProtKB:Q92574#VAR_009410,Tuberous sclerosis database (TSC1):TSC1_00161C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys)7248TSC1Uncertain significance-1RCV001926248; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777053135777053CT135777053-
NM_000368.5(TSC1):c.2424G>A (p.Ala808=)7248TSC1Benign/Likely benignrs200651872RCV000527976|RCV001015475|RCV001707730; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135777054135777054CT9:g.135777054C>TClinGen:CA032646CN169374 not specified;
NM_000368.5(TSC1):c.2424G>T (p.Ala808=)7248TSC1Likely benign-1RCV002188989; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777054135777054CA135777054-
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val)7248TSC1Benign/Likely benignrs756514375RCV000233834|RCV001545419|RCV001015473; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135777055135777055GANC_000009.11:g.135777055G>AClinGen:CA032629C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)7248TSC1Likely benignrs754248661RCV000945880; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777057135777057AT9:g.135777057A>T-
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr)7248TSC1Uncertain significancers118203690RCV000042203|RCV000642006; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777058135777058AG9:g.135777058A>GClinGen:CA006415,Tuberous sclerosis database (TSC1):TSC1_00160C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2419A>G (p.Ile807Val)7248TSC1Uncertain significance-1RCV002022871; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777059135777059TC135777059-
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr)7248TSC1Uncertain significance-1RCV002022743; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777061135777061AG135777061-
NM_000368.5(TSC1):c.2416A>G (p.Met806Val)7248TSC1Uncertain significancers1845380611RCV001048264; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777062135777062TC9:g.135777062T>C-
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp)7248TSC1Uncertain significancers1845380748RCV001062096; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777065135777065TC9:g.135777065T>C-
NM_000368.5(TSC1):c.2412G>A (p.Arg804=)7248TSC1Benign/Likely benignrs1554814676RCV000547421|RCV000567045; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135777066135777066CTNC_000009.11:g.135777066C>TClinGen:CA467590480C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2400G>A (p.Leu800=)7248TSC1Likely benign-1RCV001402065; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777078135777078CT135777078-
NM_000368.5(TSC1):c.2398C>T (p.Leu800=)7248TSC1Likely benign-1RCV002158128; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777080135777080GA135777080-
NM_000368.5(TSC1):c.2394G>A (p.Thr798=)7248TSC1Benign/Likely benignrs1060504860RCV000464911|RCV001015388; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135777084135777084CTNC_000009.11:g.135777084C>TClinGen:CA16612569C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met)7248TSC1Uncertain significancers1331635112RCV000816577|RCV001015382|RCV001766718; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135777085135777085GA9:g.135777085G>A-
NM_000368.5(TSC1):c.2392-1del7248TSC1Likely pathogenic-1RCV001991366; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777087135777087TCT135777086-
NM_000368.5(TSC1):c.2392-3C>T7248TSC1Uncertain significance-1RCV001961564; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777089135777089GA135777089-
NM_000368.5(TSC1):c.2392-5G>A7248TSC1Uncertain significancers1463016849RCV000695276; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777091135777091CT9:g.135777091C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2392-8_2392-7del7248TSC1Likely benignrs1554814696RCV000527059|RCV001443010; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777093135777094CAAC9:g.135777093_135777094delClinGen:CA658656064C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2392-7T>C7248TSC1Likely benignrs1554814693RCV000642065; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777093135777093AG9:g.135777093A>GClinGen:CA658797311C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2392-10C>G7248TSC1Uncertain significance-1RCV002051540; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777096135777096GC135777096-
NM_000368.5(TSC1):c.2392-12C>G7248TSC1Likely benign-1RCV002172632; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777098135777098GC135777098-
NM_000368.5(TSC1):c.2392-13T>C7248TSC1Likely benign-1RCV002215944; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777099135777099AG135777099-
NM_000368.5(TSC1):c.2392-14G>A7248TSC1Likely benignrs1057524717RCV000441731|RCV002063651; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777100135777100CT9:g.135777100C>TClinGen:CA16605545CN169374 not specified;
NM_000368.5(TSC1):c.2392-16A>G7248TSC1Benign/Likely benignrs758374143RCV000189821|RCV001579659|RCV001857662; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777102135777102TCNC_000009.11:g.135777102T>CClinGen:CA032426CN169374 not specified;
NM_000368.5(TSC1):c.2392-17C>T7248TSC1Likely benign-1RCV002187061; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777103135777103GA135777103-
NM_000368.5(TSC1):c.2392-20G>T7248TSC1Likely benign-1RCV002199883; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777106135777106CA135777106-
NM_000368.5(TSC1):c.2392-35T>C7248TSC1Benignrs11243931RCV000042199|RCV000252255|RCV001675598|RCV001514618; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777121135777121AG9:g.135777121A>GTuberous sclerosis database (TSC1):TSC1_00158,ClinGen:CA006386CN169374 not specified;
NM_000368.5(TSC1):c.2041+240_2392-319del7248TSC1Pathogenic-1RCV001257303; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777405135779558ATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAA9:g.135777405_135777503del-
NC_000009.11:g.(?_135777972)_(135782777_?)del7248TSC1Uncertain significance-1RCV001373914; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777972135782777nana-1-
NM_000368.5(TSC1):c.2391+17C>T7248TSC1Likely benignrs572485175RCV000429462|RCV002062705; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777975135777975GA9:g.135777975G>AClinGen:CA032280CN169374 not specified;
NM_000368.5(TSC1):c.2391+16C>T7248TSC1Likely benign-1RCV002092654; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777976135777976GA135777976-
NM_000368.5(TSC1):c.2391+14C>T7248TSC1Likely benignrs757480492RCV000616134|RCV002064131; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777978135777978GA9:g.135777978G>AClinGen:CA032247CN169374 not specified;
NM_000368.5(TSC1):c.2391+12A>C7248TSC1Likely benign-1RCV002188176; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777980135777980TG135777980-
NM_000368.5(TSC1):c.2391+12A>G7248TSC1Likely benign-1RCV002097367; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777980135777980TC135777980-
NM_000368.5(TSC1):c.2391+10G>T7248TSC1Likely benign-1RCV002082749; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777982135777982CA135777982-
NM_000368.5(TSC1):c.2391+9T>G7248TSC1Likely benign-1RCV001443203; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777983135777983AC135777983-
NM_000368.5(TSC1):c.2391+8C>T7248TSC1Likely benignrs1554814904RCV000642085; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777984135777984GANC_000009.11:g.135777984G>AClinGen:CA658797312C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2391+1G>C7248TSC1Likely pathogenicrs1060503224RCV000463910; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777991135777991CGNC_000009.11:g.135777991C>GClinGen:CA16612572C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2391+1G>A7248TSC1Uncertain significance-1RCV001961504; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777991135777991CT135777991-
NM_000368.5(TSC1):c.2390A>T (p.Gln797Leu)7248TSC1Uncertain significance-1RCV001882374; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777993135777993TA135777993-
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)7248TSC1Pathogenicrs397514862RCV000055004|RCV000551066|RCV000413404; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135777994135777994GA9:g.135777994G>AClinGen:CA006376,Tuberous sclerosis database (TSC1):TSC1_00448CN517202 not provided;
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys)7248TSC1Uncertain significancers397514862RCV000534033; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135777994135777994GT9:g.135777994G>TClinGen:CA375358996C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)7248TSC1Pathogenicrs781371665RCV000579359|RCV001853844; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778003135778003GA9:g.135778003G>AClinGen:CA375359090CN517202 not provided;
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys)7248TSC1Uncertain significancers781371665RCV000704242|RCV000716066; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C27117549135778003135778003GTNC_000009.11:g.135778003G>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn)7248TSC1Uncertain significance-1RCV001983132; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778005135778005CT135778005-
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)7248TSC1Uncertain significancers796053460RCV000189855|RCV000558000; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778008135778008TCNC_000009.11:g.135778008T>CClinGen:CA319304CN169374 not specified;
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=)7248TSC1Likely benign-1RCV001435860; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778013135778013GA135778013-
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys)7248TSC1Uncertain significancers749111647RCV000798316|RCV001015305; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135778014135778014TC9:g.135778014T>C-
NM_000368.5(TSC1):c.2367C>T (p.Phe789=)7248TSC1Likely benignrs1588301207RCV000944627|RCV001436846; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778016135778016GA9:g.135778016G>A-
NM_000368.5(TSC1):c.2364A>G (p.Glu788=)7248TSC1Likely benignrs1588301218RCV000933144|RCV001401983; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778019135778019TC9:g.135778019T>C-
NM_000368.5(TSC1):c.2362G>T (p.Glu788Ter)7248TSC1Pathogenicrs118203685RCV000042197|RCV000793708; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778021135778021CA9:g.135778021C>AClinGen:CA006362,Tuberous sclerosis database (TSC1):TSC1_00157C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2341_2360dup (p.Glu787fs)7248TSC1Pathogenicrs1554814935RCV000458177; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778022135778023CCTCTCGGTCATGCTGCAGCTGNC_000009.11:g.135778026_135778045dupClinGen:CA16612750C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp)7248TSC1Uncertain significancers1564477079RCV000716542|RCV000699377; NMedGen:C2711754|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778022135778022CGNC_000009.11:g.135778022C>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2360del (p.Glu787fs)7248TSC1Pathogenicrs1588301269RCV000817013; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778023135778023CTC9:g.135778023_135778023del-
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys)7248TSC1Uncertain significancers1564477097RCV000700784; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778024135778024CTNC_000009.11:g.135778024C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln)7248TSC1Uncertain significancers1336228562RCV000690186; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778026135778026CTNC_000009.11:g.135778026C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)7248TSC1Pathogenicrs118203682RCV000042194|RCV000201048|RCV000415379|RCV000519452|RCV000491852; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human9135778027135778027GA9:g.135778027G>AClinGen:CA006339,Tuberous sclerosis database (TSC1):TSC1_00156C1332852 Cardiac rhabdomyoma;
NM_000368.5(TSC1):c.2354A>G (p.Asp785Gly)7248TSC1Uncertain significance-1RCV002020220; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778029135778029TC135778029-
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter)7248TSC1Pathogenicrs118203681RCV000042193|RCV001199390; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778036135778036GA9:g.135778036G>ATuberous sclerosis database (TSC1):TSC1_00436,ClinGen:CA006332C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2345T>A (p.Leu782Gln)7248TSC1Uncertain significancers1845444954RCV001215456; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778038135778038AT9:g.135778038A>T-
NM_000368.5(TSC1):c.2340_2343del (p.Arg780fs)7248TSC1Pathogenicrs1588301374RCV000824442; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778040135778043GCTGTG9:g.135778040_135778043del-
NM_000368.5(TSC1):c.2343G>A (p.Gln781=)7248TSC1Likely benign-1RCV001503533; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778040135778040CT135778040-
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)7248TSC1Pathogenicrs118203680RCV000042192|RCV000473593|RCV002054843; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805; Human Phenotype Ontology:HP9135778042135778042GA9:g.135778042G>AClinGen:CA006322,Tuberous sclerosis database (TSC1):TSC1_00155C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys)7248TSC1Uncertain significancers1845445479RCV001343248|RCV001773685; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135778044135778044CT135778044-
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)7248TSC1Pathogenic/Likely pathogenicrs1564477162RCV000760541|RCV001855927; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778045135778045TANC_000009.11:g.135778045T>A-
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val)7248TSC1Uncertain significancers1845445721RCV001036371; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778048135778048TC9:g.135778048T>C-
NM_000368.5(TSC1):c.2333A>T (p.Gln778Leu)7248TSC1Uncertain significancers1845445850RCV001043093; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778050135778050TA9:g.135778050T>A-
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg)7248TSC1Uncertain significancers1554814967RCV000642050; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778052135778052GC9:g.135778052G>CClinGen:CA375359466C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly)7248TSC1Uncertain significancers1554814968RCV000537668; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778054135778054TC9:g.135778054T>CClinGen:CA375359484C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2325C>T (p.Leu775=)7248TSC1Likely benign-1RCV001459667; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778058135778058GA135778058-
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe)7248TSC1Conflicting interpretations of pathogenicityrs868755168RCV000456582|RCV000568606|RCV001167710|RCV001538625; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN5172029135778060135778060GANC_000009.11:g.135778060G>AClinGen:CA16612447C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2322G>A (p.Lys774=)7248TSC1Benign/Likely benignrs772038670RCV000445142|RCV000557099|RCV000568131; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135778061135778061CT9:g.135778061C>TClinGen:CA032131C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2321A>C (p.Lys774Thr)7248TSC1Uncertain significance-1RCV001365254; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778062135778062TG135778062-
NM_000368.5(TSC1):c.2317_2318delinsCA (p.Thr773His)7248TSC1Uncertain significancers1060503202RCV000463553; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778065135778066GTTGNC_000009.11:g.135778065_135778066delinsTGClinGen:CA16612751C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2314G>A (p.Val772Ile)7248TSC1Uncertain significancers1468880078RCV001218787; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778069135778069CT9:g.135778069C>T-
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr)7248TSC1Conflicting interpretations of pathogenicityrs760208449RCV000164860|RCV000983928; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778071135778071AG9:g.135778071A>GClinGen:CA006280C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2311A>G (p.Met771Val)7248TSC1Conflicting interpretations of pathogenicityrs1057522203RCV000424798|RCV001861557; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778072135778072TC9:g.135778072T>CClinGen:CA16605547CN169374 not specified;
NM_000368.5(TSC1):c.2307C>T (p.Asp769=)7248TSC1Benign/Likely benignrs876658671RCV000219386|RCV001397172; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778076135778076GA9:g.135778076G>AClinGen:CA10578825C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2304dup (p.Asp769Ter)7248TSC1Pathogenic-1RCV001900123; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778078135778079CCA135778078-
NM_000368.5(TSC1):c.2303G>A (p.Arg768His)7248TSC1Conflicting interpretations of pathogenicityrs1033725987RCV000467121|RCV000575617|RCV000764812; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805; Human9135778080135778080CTNC_000009.11:g.135778080C>TClinGen:CA16612757C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys)7248TSC1Uncertain significancers1588301564RCV000796978; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778081135778081GA9:g.135778081G>A-
NM_000368.5(TSC1):c.2301G>T (p.Gln767His)7248TSC1Uncertain significancers1845448996RCV001322505; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778082135778082CA135778082-
NM_000368.5(TSC1):c.2300A>C (p.Gln767Pro)7248TSC1Uncertain significancers1845449144RCV001061820; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778083135778083TG9:g.135778083T>G-
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg)7248TSC1Uncertain significancers1845449144RCV001342614; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778083135778083TC135778083-
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)7248TSC1Uncertain significancers118203675RCV000693569; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778084135778084GC9:g.135778084G>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp)7248TSC1Uncertain significancers1403227945RCV001015096|RCV001313253; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778085135778085CG9:g.135778085C>G-
NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)7248TSC1Pathogenicrs118203673RCV000042185|RCV000523745|RCV001384743; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778090135778090GA9:g.135778090G>AClinGen:CA006259,Tuberous sclerosis database (TSC1):TSC1_00151CN517202 not provided;
NM_000368.5(TSC1):c.2292C>G (p.Leu764=)7248TSC1Likely benign-1RCV001476997; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778091135778091GC135778091-
NM_000368.5(TSC1):c.2287C>T (p.Gln763Ter)7248TSC1Pathogenicrs118203671RCV000042183|RCV001223370; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778096135778096GA9:g.135778096G>AClinGen:CA006248,Tuberous sclerosis database (TSC1):TSC1_00305C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2287C>G (p.Gln763Glu)7248TSC1Uncertain significance-1RCV002046608; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778096135778096GC135778096-
NM_000368.5(TSC1):c.2286T>C (p.Asn762=)7248TSC1Likely benignrs1554815010RCV000544694|RCV001482785; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778097135778097AG9:g.135778097A>GClinGen:CA467590569C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2286T>A (p.Asn762Lys)7248TSC1Uncertain significance-1RCV001926590; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778097135778097AT135778097-
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)7248TSC1Uncertain significancers1264839312RCV000809055; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778099135778099TC9:g.135778099T>C-
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)7248TSC1Pathogenicrs118203668RCV000042180|RCV000422886|RCV001199389; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778100135778100GT9:g.135778100G>TTuberous sclerosis database (TSC1):TSC1_00261,ClinGen:CA006227CN517202 not provided;
NM_000368.5(TSC1):c.2282A>G (p.Tyr761Cys)7248TSC1Uncertain significancers1554815018RCV000641976; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778101135778101TC9:g.135778101T>CClinGen:CA375359771C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)7248TSC1Conflicting interpretations of pathogenicityrs776386313RCV000567937|RCV000988275; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778102135778102AG9:g.135778102A>GClinGen:CA032032C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2276C>T (p.Ala759Val)7248TSC1Uncertain significancers1554815021RCV000560644; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778107135778107GA9:g.135778107G>AClinGen:CA375359799C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr)7248TSC1Uncertain significancers1060503199RCV000463706; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778108135778108CTNC_000009.11:g.135778108C>TClinGen:CA16612449C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)7248TSC1Pathogenicrs397514783RCV000054888|RCV000428655|RCV000705433; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778111135778111GA9:g.135778111G>AClinGen:CA006205,Tuberous sclerosis database (TSC1):TSC1_00526CN517202 not provided;
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys)7248TSC1Uncertain significancers397514783RCV001229466; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778111135778111GT9:g.135778111G>T-
NM_000368.5(TSC1):c.2268_2271del (p.Lys756fs)7248TSC1Pathogenicrs118203665RCV000042176|RCV001281331; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778112135778115GTTCTG9:g.135778112_135778115delClinGen:CA006197,Tuberous sclerosis database (TSC1):TSC1_00420C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2270A>T (p.Glu757Val)7248TSC1Uncertain significancers1845452248RCV001299562; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778113135778113TA135778113-
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)7248TSC1Likely pathogenicrs1057519319RCV000416374; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778114135778114CANC_000009.11:g.135778114C>AClinGen:CA16044045C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2269G>C (p.Glu757Gln)7248TSC1Uncertain significance-1RCV001370144; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778114135778114CG135778114-
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)7248TSC1Benign/Likely benignrs760004541RCV000887489|RCV001014984; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135778115135778115TC9:g.135778115T>C-
NM_000368.5(TSC1):c.2042-177_2266del7248TSC1Likely pathogenic-1RCV001216170; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778117135779381TTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAAT9:g.135778117_135778215del-
NM_000368.5(TSC1):c.2263C>T (p.Gln755Ter)7248TSC1Pathogenicrs1845452711RCV001207537; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778120135778120GA9:g.135778120G>A-
NM_000368.5(TSC1):c.2262G>C (p.Leu754=)7248TSC1Likely benign-1RCV002163102; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778121135778121CG135778121-
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile)7248TSC1Uncertain significancers765643529RCV001235826; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778129135778129CT9:g.135778129C>T-
NM_000368.5(TSC1):c.2253G>T (p.Lys751Asn)7248TSC1Uncertain significancers1845453410RCV001036693; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778130135778130CA9:g.135778130C>A-
NM_000368.5(TSC1):c.2251A>C (p.Lys751Gln)7248TSC1Uncertain significancers1845453569RCV001221957; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778132135778132TG9:g.135778132T>G-
NM_000368.5(TSC1):c.2248_2249dup (p.Trp750fs)7248TSC1Pathogenicrs1845453970RCV001232210; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778133135778134CCCA9:g.135778133_135778134insCA-
NM_000368.5(TSC1):c.2244G>C (p.Gln748His)7248TSC1Uncertain significancers1588301930RCV000795121; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778139135778139CG9:g.135778139C>G-
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter)7248TSC1Pathogenicrs1588301951RCV000820650; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778141135778141GA9:g.135778141G>A-
NM_000368.5(TSC1):c.2241_2242del (p.Gln748fs)7248TSC1Pathogenic-1RCV001908534; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778141135778142TGGT135778140-
NM_000368.5(TSC1):c.2239A>G (p.Ile747Val)7248TSC1Uncertain significancers1564477496RCV000693923; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778144135778144TCNC_000009.11:g.135778144T>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr)7248TSC1Uncertain significancers786203007RCV000166123|RCV000543698; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778147135778147CA9:g.135778147C>AClinGen:CA006171C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2235G>A (p.Lys745=)7248TSC1Benign/Likely benignrs753265422RCV000531236|RCV001696992; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135778148135778148CT9:g.135778148C>TClinGen:CA031977CN169374 not specified;
NM_000368.5(TSC1):c.2231_2235del (p.Glu744fs)7248TSC1Pathogenicrs1554815049RCV000555253; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778148135778152CCTTCTC9:g.135778148_135778152delClinGen:CA658656066C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2235G>T (p.Lys745Asn)7248TSC1Uncertain significancers753265422RCV001230944; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778148135778148CA9:g.135778148C>A-
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn)7248TSC1Uncertain significance-1RCV001359640; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778148135778148CG135778148-
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)7248TSC1Pathogenicrs118203661RCV000042172|RCV000414029|RCV001199388; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778156135778156GA9:g.135778156G>AClinGen:CA006160,Tuberous sclerosis database (TSC1):TSC1_00145CN517202 not provided;
NM_000368.5(TSC1):c.2226A>G (p.Leu742=)7248TSC1Likely benignrs397514878RCV000055037|RCV000642068; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778157135778157TC9:g.135778157T>CClinGen:CA006154,Tuberous sclerosis database (TSC1):TSC1_00471C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2225T>C (p.Leu742Ser)7248TSC1Uncertain significancers1060503201RCV000476200; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778158135778158AGNC_000009.11:g.135778158A>GClinGen:CA16612627C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2223G>A (p.Lys741=)7248TSC1Likely benignrs1588302038RCV000979771|RCV001401578; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778160135778160CT9:g.135778160C>T-
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr)7248TSC1Uncertain significancers1588302047RCV001014846|RCV001860777; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778161135778161TG9:g.135778161T>G-
NM_000368.5(TSC1):c.2221A>C (p.Lys741Gln)7248TSC1Uncertain significancers587778723RCV000122192|RCV001320522; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778162135778162TG9:g.135778162T>GClinGen:CA006148CN169374 not specified;
NM_000368.5(TSC1):c.2220G>A (p.Leu740=)7248TSC1Likely benignrs1588302073RCV000922609|RCV001405552; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778163135778163CT9:g.135778163C>T-
NM_000368.5(TSC1):c.2218T>C (p.Leu740=)7248TSC1Likely benign-1RCV001433167; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778165135778165AG135778165-
NM_000368.5(TSC1):c.2217G>A (p.Gln739=)7248TSC1Likely benign-1RCV002181943; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778166135778166CT135778166-
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)7248TSC1Pathogenicrs1554815054RCV000592666|RCV001387999; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778168135778168GA9:g.135778168G>AClinGen:CA375360120C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2212_2213dup (p.Asp738fs)7248TSC1Pathogenic-1RCV001390649; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778169135778170AATC135778169-
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val)7248TSC1Uncertain significance-1RCV001757079|RCV001882900; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778170135778170TA135778170-
NM_000368.5(TSC1):c.2209A>G (p.Lys737Glu)7248TSC1Uncertain significancers1588302128RCV000821895; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778174135778174TC9:g.135778174T>C-
NM_000368.5(TSC1):c.2209-3T>C7248TSC1Conflicting interpretations of pathogenicityrs368309229RCV000357586|RCV000467930|RCV001014788|RCV001697785; NHuman Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135778177135778177AG9:g.135778177A>GClinGen:CA031902C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2209-5G>C7248TSC1Likely benignrs1588302154RCV000934403|RCV001453399; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778179135778179CG9:g.135778179C>G-
NM_000368.5(TSC1):c.2209-9C>G7248TSC1Conflicting interpretations of pathogenicityrs118203660RCV000189819|RCV000233096|RCV000266169|RCV001705061; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN5172029135778183135778183GC9:g.135778183G>CClinGen:CA031961C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.2209-10T>G7248TSC1Uncertain significance-1RCV001949902; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778184135778184AC135778184-
NM_000368.5(TSC1):c.2209-11G>T7248TSC1Likely benignrs1388387332RCV000601609|RCV002064203; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778185135778185CA9:g.135778185C>AClinGen:CA591361293CN169374 not specified;
NM_000368.5(TSC1):c.2209-11G>A7248TSC1Likely benign-1RCV002208677; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778185135778185CT135778185-
NM_000368.5(TSC1):c.2209-18A>C7248TSC1Likely benign-1RCV002215721; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778192135778192TG135778192-
NM_000368.5(TSC1):c.2209-19C>T7248TSC1Likely benign-1RCV002200453; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778193135778193GA135778193-
NM_000368.5(TSC1):c.2209-20A>G7248TSC1Likely benign-1RCV002207512; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135778194135778194TC135778194-
NM_000368.5(TSC1):c.2208+20C>G7248TSC1Likely benign-1RCV002090675; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779018135779018GC135779018-
NM_000368.5(TSC1):c.2208+17G>A7248TSC1Likely benignrs1057523691RCV000443621|RCV002063519; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779021135779021CT9:g.135779021C>TClinGen:CA16605550CN169374 not specified;
NM_000368.5(TSC1):c.2208+13G>T7248TSC1Uncertain significance-1RCV001908465; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779025135779025CA135779025-
NM_000368.5(TSC1):c.2208+10G>T7248TSC1Likely benignrs945077563RCV000542809; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779028135779028CA9:g.135779028C>AClinGen:CA645565260C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2208+9T>G7248TSC1Likely benign-1RCV002167893; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779029135779029AC135779029-
NM_000368.5(TSC1):c.2208+8C>A7248TSC1Likely benign-1RCV001406259; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779030135779030GT135779030-
NM_000368.5(TSC1):c.2208+7A>G7248TSC1Likely benignrs777732621RCV000870411; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779031135779031TC9:g.135779031T>C-
NM_000368.5(TSC1):c.2208+2T>A7248TSC1Pathogenic/Likely pathogenicrs1064794132RCV000487211|RCV000565398|RCV000781918|RCV001333394; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779036135779036AT9:g.135779036A>TClinGen:CA16618767C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu)7248TSC1Uncertain significance-1RCV002028801; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779040135779040TA135779040-
NM_000368.5(TSC1):c.2198A>C (p.Asn733Thr)7248TSC1Uncertain significancers1564478277RCV000697854; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779048135779048TGNC_000009.11:g.135779048T>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2196T>C (p.His732=)7248TSC1Benign/Likely benignrs776441369RCV000457762|RCV001014739; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135779050135779050AGNC_000009.11:g.135779050A>GClinGen:CA031671C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2195A>G (p.His732Arg)7248TSC1Conflicting interpretations of pathogenicityrs878853964RCV000229210|RCV001014736; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135779051135779051TC9:g.135779051T>CClinGen:CA10582624C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)7248TSC1Conflicting interpretations of pathogenicityrs118203657RCV000005409|RCV000005410|RCV000054851|RCV000034607|RCV000129684|RCV000118692|RCV000278906; NMedGen:C1846389|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0032051,9135779052135779052GA9:g.135779052G>AClinGen:CA006123,UniProtKB:Q92574#VAR_009409,Tuberous sclerosis database (TSC1):TSC1_00144,OMIM:605284.0007C1846389 Focal cortical dysplasia of Taylor type 2B;
NM_000368.5(TSC1):c.2191G>T (p.Glu731Ter)7248TSC1Pathogenicrs397514820RCV000054949|RCV001389750; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779055135779055CA9:g.135779055C>AClinGen:CA006117,Tuberous sclerosis database (TSC1):TSC1_00700C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2183C>T (p.Ala728Val)7248TSC1Uncertain significancers1564478337RCV000692320; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779063135779063GA9:g.135779063G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2182G>T (p.Ala728Ser)7248TSC1Uncertain significancers1845494587RCV001070811; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779064135779064CA9:g.135779064C>A-
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)7248TSC1Uncertain significance-1RCV001374143; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779064135779064CT135779064-
NM_000368.5(TSC1):c.2177_2180dup (p.Ala728fs)7248TSC1Pathogenicrs1554815246RCV000540931; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779065135779066TTGCTG9:g.135779065_135779066insGCTGClinGen:CA658656067C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2181A>G (p.Ala727=)7248TSC1Likely benignrs1588303703RCV000929075|RCV001428342; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779065135779065TC9:g.135779065T>C-
NM_000368.5(TSC1):c.2181A>C (p.Ala727=)7248TSC1Likely benign-1RCV001411047; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779065135779065TG135779065-
NM_000368.5(TSC1):c.2178A>G (p.Ala726=)7248TSC1Likely benignrs1588303718RCV000934647|RCV001488036; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779068135779068TC9:g.135779068T>C-
NM_000368.5(TSC1):c.2172C>A (p.Ile724=)7248TSC1Likely benign-1RCV001429416; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779074135779074GT135779074-
NM_000368.5(TSC1):c.2169G>A (p.Val723=)7248TSC1Likely benign-1RCV002101084; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779077135779077CT135779077-
NM_000368.5(TSC1):c.2167del (p.Lys722_Val723insTer)7248TSC1Pathogenic-1RCV002001834; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779079135779079ACA135779078-
NM_000368.5(TSC1):c.2167G>T (p.Val723Leu)7248TSC1Uncertain significance-1RCV001874887; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779079135779079CA135779079-
NM_000368.5(TSC1):c.2165del (p.Lys722fs)7248TSC1Pathogenicrs1060503213RCV000466326; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779081135779081CTCNC_000009.11:g.135779082delClinGen:CA16612574C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2165A>G (p.Lys722Arg)7248TSC1Uncertain significance-1RCV002006228; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779081135779081TC135779081-
NM_000368.5(TSC1):c.2162G>A (p.Arg721His)7248TSC1Conflicting interpretations of pathogenicityrs769566267RCV000488377|RCV001089212; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779084135779084CT9:g.135779084C>TClinGen:CA031606CN517202 not provided;
NM_000368.5(TSC1):c.2162G>C (p.Arg721Pro)7248TSC1Uncertain significancers769566267RCV001045306; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779084135779084CG9:g.135779084C>G-
NM_000368.5(TSC1):c.2162G>T (p.Arg721Leu)7248TSC1Uncertain significance-1RCV001981498; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779084135779084CA135779084-
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys)7248TSC1Uncertain significancers763357144RCV000805367; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779085135779085GA9:g.135779085G>A-
NM_000368.5(TSC1):c.2161C>G (p.Arg721Gly)7248TSC1Uncertain significancers763357144RCV001315079; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779085135779085GC135779085-
NM_000368.5(TSC1):c.2159del (p.Leu720fs)7248TSC1Pathogenicrs1845497321RCV001239992; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779087135779087GAG9:g.135779087_135779087del-
NM_000368.5(TSC1):c.2158C>T (p.Leu720Phe)7248TSC1Uncertain significance-1RCV001982299; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779088135779088GA135779088-
NM_000368.5(TSC1):c.2157C>T (p.Leu719=)7248TSC1Likely benign-1RCV001419014; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779089135779089GA135779089-
NM_000368.5(TSC1):c.2156T>C (p.Leu719Pro)7248TSC1Uncertain significance-1RCV001911974; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779090135779090AG135779090-
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)7248TSC1Uncertain significancers1060503207RCV000461435; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779093135779093CTNC_000009.11:g.135779093C>TClinGen:CA16612632C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp)7248TSC1Uncertain significancers1445358121RCV001014606|RCV001319237; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779094135779094GA9:g.135779094G>A-
NM_000368.5(TSC1):c.2151G>A (p.Arg717=)7248TSC1Likely benign-1RCV002119494; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779095135779095CT135779095-
NM_000368.5(TSC1):c.2149A>C (p.Arg717=)7248TSC1Benign/Likely benignrs1057523194RCV000443612|RCV001394460; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779097135779097TG9:g.135779097T>GClinGen:CA16605393CN169374 not specified;
NM_000368.5(TSC1):c.2148C>T (p.Asn716=)7248TSC1Likely benignrs1554815274RCV000530354; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779098135779098GA9:g.135779098G>AClinGen:CA467590694C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2147A>G (p.Asn716Ser)7248TSC1Uncertain significance-1RCV001998077; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779099135779099TC135779099-
NM_000368.5(TSC1):c.2146A>C (p.Asn716His)7248TSC1Uncertain significance-1RCV001359646; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779100135779100TG135779100-
NM_000368.5(TSC1):c.2145del (p.Asn716fs)7248TSC1Pathogenicrs118203650RCV000042161|RCV001008783|RCV001385877; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779101135779101TCT9:g.135779101_135779101delClinGen:CA006079,Tuberous sclerosis database (TSC1):TSC1_00140C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2145G>C (p.Arg715=)7248TSC1Uncertain significancers1379334013RCV000689742; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779101135779101CGNC_000009.11:g.135779101C>G-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2145G>T (p.Arg715=)7248TSC1Likely benignrs1379334013RCV000940293; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779101135779101CA9:g.135779101C>A-
NM_000368.5(TSC1):c.2144G>A (p.Arg715Gln)7248TSC1Uncertain significancers986350787RCV001057359; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779102135779102CT9:g.135779102C>T-
NM_000368.5(TSC1):c.2143C>T (p.Arg715Trp)7248TSC1Uncertain significancers1564478519RCV000690496|RCV001724140; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135779103135779103GANC_000009.11:g.135779103G>A-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2143C>G (p.Arg715Gly)7248TSC1Uncertain significancers1564478519RCV001344700; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779103135779103GC135779103-
NM_000368.5(TSC1):c.2141T>A (p.Leu714His)7248TSC1Uncertain significancers1438737976RCV000554328; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779105135779105AT9:g.135779105A>TClinGen:CA375360913C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2141del (p.Leu714fs)7248TSC1Pathogenic-1RCV001388672; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779105135779105GAG135779104-
NM_000368.5(TSC1):c.2138C>T (p.Ala713Val)7248TSC1Uncertain significancers1286421874RCV001049309; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779108135779108GA9:g.135779108G>A-
NM_000368.5(TSC1):c.2136T>C (p.His712=)7248TSC1Likely benignrs1554815286RCV000642086; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779110135779110AG9:g.135779110A>GClinGen:CA467590707C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2131C>T (p.Gln711Ter)7248TSC1Pathogenicrs118203647RCV000042158|RCV000688704; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779115135779115GA9:g.135779115G>AClinGen:CA006063,Tuberous sclerosis database (TSC1):TSC1_00138C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys)7248TSC1Uncertain significance-1RCV001359627; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779115135779115GT135779115-
NM_000368.5(TSC1):c.2130dup (p.Gln711fs)7248TSC1Pathogenic-1RCV001380829; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779115135779116GGC135779115-
NM_000368.5(TSC1):c.2122A>C (p.Lys708Gln)7248TSC1Uncertain significancers1845500801RCV001340174; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779124135779124TG135779124-
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu)7248TSC1Uncertain significancers1845501093RCV001302483; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779127135779127AG135779127-
NM_000368.5(TSC1):c.2118T>C (p.Arg706=)7248TSC1Likely benign-1RCV002120944; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779128135779128AG135779128-
NM_000368.5(TSC1):c.2117G>A (p.Arg706His)7248TSC1Uncertain significancers1588304158RCV001014317|RCV001299229; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779129135779129CT9:g.135779129C>T-
NM_000368.5(TSC1):c.2117G>C (p.Arg706Pro)7248TSC1Uncertain significancers1588304158RCV001309920; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779129135779129CG135779129-
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys)7248TSC1Uncertain significancers1588304163RCV000821455; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779130135779130GA9:g.135779130G>A-
NM_000368.5(TSC1):c.2116C>A (p.Arg706Ser)7248TSC1Uncertain significancers1588304163RCV000800528; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779130135779130GT9:g.135779130G>T-
NM_000368.5(TSC1):c.2115G>A (p.Glu705=)7248TSC1Conflicting interpretations of pathogenicityrs142662480RCV000189818|RCV000718497|RCV000732642|RCV001081924; NMedGen:CN169374|MedGen:C2711754|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779131135779131CT9:g.135779131C>TClinGen:CA031535CN169374 not specified;
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)7248TSC1Pathogenicrs118203645RCV000042156|RCV000483745|RCV000476162; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779134135779135CATC9:g.135779134_135779135delClinGen:CA006036,Tuberous sclerosis database (TSC1):TSC1_00136CN517202 not provided;
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter)7248TSC1Pathogenicrs118203646RCV000042157|RCV001199387; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779134135779134AT9:g.135779134A>TClinGen:CA006056,Tuberous sclerosis database (TSC1):TSC1_00137C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2112T>G (p.Tyr704Ter)7248TSC1Pathogenicrs118203646RCV001235747; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779134135779134AC9:g.135779134A>C-
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys)7248TSC1Conflicting interpretations of pathogenicityrs752054698RCV000595767|RCV001079196; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779135135779135TC9:g.135779135T>CClinGen:CA031442CN169374 not specified;
NM_000368.5(TSC1):c.2111A>C (p.Tyr704Ser)7248TSC1Uncertain significance-1RCV002049592; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779135135779135TG135779135-
NM_000368.5(TSC1):c.2110T>A (p.Tyr704Asn)7248TSC1Uncertain significance-1RCV001933525; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779136135779136AT135779136-
NM_000368.5(TSC1):c.2109C>G (p.Leu703=)7248TSC1Uncertain significance-1RCV001886259; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779137135779137GC135779137-
NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)7248TSC1Pathogenicrs118203638RCV000054882|RCV000523879|RCV001853082; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779139135779140GGTAAC9:g.135779139_135779140insTAACClinGen:CA264248,Tuberous sclerosis database (TSC1):TSC1_00515CN517202 not provided;
NM_000368.5(TSC1):c.2106dup (p.Leu703fs)7248TSC1Pathogenicrs397514838RCV001218210; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779139135779140GGT9:g.135779139_135779140insT-
NM_000368.5(TSC1):c.2105_2106insCT (p.Leu702fs)7248TSC1Pathogenicrs1564478705RCV000691650; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779140135779141TTAGNC_000009.11:g.135779141_135779142insGA-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2103G>A (p.Gln701=)7248TSC1Conflicting interpretations of pathogenicity-1RCV001422371|RCV001773749; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135779143135779143CT135779143-
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)7248TSC1Pathogenicrs1845504382RCV001199386|RCV001508277; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135779145135779145GA9:g.135779145G>A-
NM_000368.5(TSC1):c.2099A>G (p.Asn700Ser)7248TSC1Uncertain significancers1845504712RCV001302784; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779147135779147TC135779147-
NM_000368.5(TSC1):c.2097C>A (p.His699Gln)7248TSC1Uncertain significancers1554815319RCV000641999; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779149135779149GT9:g.135779149G>TClinGen:CA375361062C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2096A>G (p.His699Arg)7248TSC1Uncertain significancers1845505398RCV001042389; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779150135779150TC9:g.135779150T>C-
NM_000368.5(TSC1):c.2095C>T (p.His699Tyr)7248TSC1Uncertain significancers1845505547RCV001064462; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779151135779151GA9:g.135779151G>A-
NM_000368.5(TSC1):c.2094G>A (p.Leu698=)7248TSC1Likely benign-1RCV001398539; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779152135779152CT135779152-
NM_000368.5(TSC1):c.2092C>T (p.Leu698=)7248TSC1Likely benign-1RCV001394207; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779154135779154GA135779154-
NM_000368.5(TSC1):c.2090del (p.Leu697fs)7248TSC1Pathogenicrs118203633RCV000042138|RCV001387641; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779156135779156TAT9:g.135779156_135779156delClinGen:CA005933,Tuberous sclerosis database (TSC1):TSC1_00302C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe)7248TSC1Uncertain significancers1845506304RCV001050694; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779160135779160GA9:g.135779160G>A-
NM_000368.5(TSC1):c.2086C>A (p.Leu696Ile)7248TSC1Uncertain significancers1845506304RCV001325473; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779160135779160GT135779160-
NM_000368.5(TSC1):c.2085G>A (p.Leu695=)7248TSC1Likely benignrs767518902RCV000215503|RCV001434005; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779161135779161CT9:g.135779161C>TClinGen:CA031172C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2083T>C (p.Leu695=)7248TSC1Likely benign-1RCV001461818; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779163135779163AG135779163-
NM_000368.5(TSC1):c.2082G>T (p.Gln694His)7248TSC1Uncertain significance-1RCV001893806; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779164135779164CA135779164-
NM_000368.5(TSC1):c.2082G>A (p.Gln694=)7248TSC1Likely benign-1RCV002189595; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779164135779164CT135779164-
NM_000368.5(TSC1):c.2080C>A (p.Gln694Lys)7248TSC1Uncertain significancers397514789RCV000810507; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779166135779166GT9:g.135779166G>T-
NM_000368.5(TSC1):c.2077G>C (p.Asp693His)7248TSC1Conflicting interpretations of pathogenicityrs397514800RCV000054914|RCV000564681|RCV000724243|RCV001083507; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779169135779169CG9:g.135779169C>GClinGen:CA005916,UniProtKB:Q92574#VAR_070655,Tuberous sclerosis database (TSC1):TSC1_00502C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2077G>T (p.Asp693Tyr)7248TSC1Uncertain significancers397514800RCV001327758; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779169135779169CA135779169-
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro)7248TSC1Uncertain significancers199755731RCV001049595; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779171135779171CG9:g.135779171C>G-
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)7248TSC1Pathogenicrs118203631RCV000042136|RCV000054891|RCV000201087|RCV000413998|RCV000763190; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690, Orphanet:538; MONDO:MO9135779172135779172GA9:g.135779172G>AClinGen:CA005901,Tuberous sclerosis database (TSC1):TSC1_00130C0005684 109800 Bladder cancer, somatic;
NM_000368.5(TSC1):c.2073C>T (p.Leu691=)7248TSC1Likely benign-1RCV001405643; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779173135779173GA135779173-
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro)7248TSC1Uncertain significancers876658244RCV000214697|RCV001036709; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779174135779174AG9:g.135779174A>GClinGen:CA10578826C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2072T>A (p.Leu691His)7248TSC1Uncertain significance-1RCV002028699; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779174135779174AT135779174-
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe)7248TSC1Uncertain significancers1554815343RCV000528471; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779175135779175GA9:g.135779175G>AClinGen:CA375361113C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val)7248TSC1Uncertain significancers1554815343RCV000547920; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779175135779175GC9:g.135779175G>CClinGen:CA375361114C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2070C>T (p.Thr690=)7248TSC1Likely benign-1RCV002077475; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779176135779176GA135779176-
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile)7248TSC1Uncertain significancers1845509575RCV001246986; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779177135779177GA9:g.135779177G>A-
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala)7248TSC1Uncertain significancers752473063RCV001213498; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779178135779178TC9:g.135779178T>C-
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)7248TSC1Conflicting interpretations of pathogenicityrs200827913RCV000034605|RCV000163566|RCV001083067; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779180135779180CT9:g.135779180C>TClinGen:CA005883C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro)7248TSC1Uncertain significancers200827913RCV001014297|RCV001339812; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779180135779180CG9:g.135779180C>G-
NM_000368.5(TSC1):c.2066G>T (p.Arg689Leu)7248TSC1Uncertain significancers200827913RCV001221314; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779180135779180CA9:g.135779180C>A-
NM_000368.5(TSC1):c.2065dup (p.Arg689fs)7248TSC1Pathogenic-1RCV001386055; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779180135779181CCG135779180-
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)7248TSC1Conflicting interpretations of pathogenicityrs202241429RCV000164473|RCV000439211|RCV001086626; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779181135779181GA9:g.135779181G>AClinGen:CA005878C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2064C>T (p.Ile688=)7248TSC1Likely benignrs878853963RCV000229562|RCV001556315|RCV001014216; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135779182135779182GANC_000009.11:g.135779182G>AClinGen:CA10582625C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2064C>A (p.Ile688=)7248TSC1Likely benignrs878853963RCV000938436|RCV001453826; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779182135779182GT9:g.135779182G>T-
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly)7248TSC1Uncertain significancers786201465RCV000163698|RCV000641974; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779189135779189TC9:g.135779189T>CClinGen:CA005874C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn)7248TSC1Uncertain significancers1406756346RCV000692996; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779190135779190CT9:g.135779190C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2052_2054del (p.Ser685del)7248TSC1Uncertain significance-1RCV001954439; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779192135779194TGAAT135779191-
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)7248TSC1Uncertain significancers397514799RCV000054913|RCV001208037; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779194135779196AAGGA9:g.135779194_135779196delClinGen:CA005857,Tuberous sclerosis database (TSC1):TSC1_00609C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)7248TSC1Uncertain significancers1845511359RCV001045691; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779195135779195GC9:g.135779195G>C-
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser)7248TSC1Uncertain significancers746909024RCV000535456; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779196135779196GA9:g.135779196G>AClinGen:CA031030C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2046_2050del (p.Pro683fs)7248TSC1Pathogenic-1RCV001881487; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779196135779200GGAGGAG135779195-
NM_000368.5(TSC1):c.2048C>G (p.Pro683Arg)7248TSC1Uncertain significancers1413960643RCV001044312; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779198135779198GC9:g.135779198G>C-
NM_000368.5(TSC1):c.2048C>T (p.Pro683Leu)7248TSC1Uncertain significance-1RCV001990432; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779198135779198GA135779198-
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys)7248TSC1Uncertain significancers919177189RCV001302993; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779201135779201GC135779201-
NM_000368.5(TSC1):c.2044T>C (p.Ser682Pro)7248TSC1Uncertain significancers1588304748RCV000804217; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779202135779202AG9:g.135779202A>G-
NM_000368.5(TSC1):c.2042-5A>G7248TSC1Uncertain significancers118203627RCV000042133|RCV000568333|RCV001222573; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779209135779209TC9:g.135779209T>CClinGen:CA005839,Tuberous sclerosis database (TSC1):TSC1_00129C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.2042-5A>T7248TSC1Likely benign-1RCV001419950; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779209135779209TA135779209-
NM_000368.5(TSC1):c.2042-7C>T7248TSC1Likely benign-1RCV001505204; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779211135779211GA135779211-
NM_000368.5(TSC1):c.2042-8A>G7248TSC1Likely benign-1RCV001410382; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779212135779212TC135779212-
NM_000368.5(TSC1):c.2042-9del7248TSC1Likely benign-1RCV001479843; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779213135779213TAT135779212-
NM_000368.5(TSC1):c.2042-10T>A7248TSC1Uncertain significancers1845512917RCV001222960; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779214135779214AT9:g.135779214A>T-
NM_000368.5(TSC1):c.2042-14dup7248TSC1Likely benign-1RCV002123391; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779217135779218CCA135779217-
NM_000368.5(TSC1):c.2041+17A>G7248TSC1Likely benign-1RCV002208673; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779781135779781TC135779781-
NM_000368.5(TSC1):c.2041+16T>C7248TSC1Likely benign-1RCV002094416; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779782135779782AG135779782-
NM_000368.5(TSC1):c.2041+16T>G7248TSC1Likely benign-1RCV002218912; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779782135779782AC135779782-
NM_000368.5(TSC1):c.2041+13C>T7248TSC1Likely benign-1RCV002166550; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779785135779785GA135779785-
NM_000368.5(TSC1):c.2041+6_2041+7dup7248TSC1Conflicting interpretations of pathogenicityrs1845540759RCV001193552|RCV002069229; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779790135779791AAAC9:g.135779790_135779791insAC-
NM_000368.5(TSC1):c.2041+6G>A7248TSC1Uncertain significancers1845540881RCV001344343; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779792135779792CT135779792-
NM_000368.5(TSC1):c.2041+5del7248TSC1Conflicting interpretations of pathogenicityrs1564479424RCV000698382|RCV000840989; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135779793135779793CTCNC_000009.11:g.135779795del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2041+1G>A7248TSC1Pathogenicrs397514842RCV000054979|RCV000201001; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779797135779797CT9:g.135779797C>TClinGen:CA005819,Tuberous sclerosis database (TSC1):TSC1_00705C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2039_2041+1del7248TSC1Pathogenic-1RCV002007502; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779797135779800ACCTCA135779796-
NM_000368.5(TSC1):c.2040A>C (p.Gly680=)7248TSC1Uncertain significance-1RCV001372451; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779799135779799TG135779799-
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu)7248TSC1Likely benignrs118203623RCV000042127|RCV000226639; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779800135779800CT9:g.135779800C>TClinGen:CA005810,Tuberous sclerosis database (TSC1):TSC1_00128C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2039del (p.Gly680fs)7248TSC1Pathogenic-1RCV001884087; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779800135779800TCT135779799-
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg)7248TSC1Likely benignrs757322533RCV000527544; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779801135779801CT9:g.135779801C>TClinGen:CA030742C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2034C>T (p.His678=)7248TSC1Benign/Likely benignrs201392975RCV000425311|RCV000551598; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779805135779805GA9:g.135779805G>AClinGen:CA030732CN169374 not specified;
NM_000368.5(TSC1):c.2034C>G (p.His678Gln)7248TSC1Uncertain significancers201392975RCV001348195; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779805135779805GC135779805-
NM_000368.5(TSC1):c.2033A>T (p.His678Leu)7248TSC1Uncertain significancers745413532RCV001014151|RCV001069932; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779806135779806TA9:g.135779806T>A-
NM_000368.5(TSC1):c.2033A>G (p.His678Arg)7248TSC1Uncertain significancers745413532RCV001066072; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779806135779806TC9:g.135779806T>C-
NM_000368.5(TSC1):c.2033del (p.His678fs)7248TSC1Pathogenic-1RCV001956057; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779806135779806GTG135779805-
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr)7248TSC1Uncertain significancers755647717RCV000799908; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779807135779807GA9:g.135779807G>A-
NM_000368.5(TSC1):c.2031C>A (p.Thr677=)7248TSC1Likely benignrs1060504855RCV000468945|RCV001478522; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779808135779808GTNC_000009.11:g.135779808G>TClinGen:CA16612453C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2031C>T (p.Thr677=)7248TSC1Likely benign-1RCV002108722; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779808135779808GA135779808-
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile)7248TSC1Conflicting interpretations of pathogenicityrs779584449RCV000534575|RCV001576295; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135779809135779809GA9:g.135779809G>AClinGen:CA030690C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)7248TSC1Pathogenicrs1554815454RCV000558526; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779812135779812CT9:g.135779812C>TClinGen:CA375361284C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg)7248TSC1Conflicting interpretations of pathogenicityrs748901883RCV000189817|RCV001014108|RCV001083108; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779813135779813ATNC_000009.11:g.135779813A>TClinGen:CA030669CN169374 not specified;
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr)7248TSC1Uncertain significancers768189353RCV000466052; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779816135779816CANC_000009.11:g.135779816C>AClinGen:CA16612758C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn)7248TSC1Likely benignrs768189353RCV000469642; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779816135779816CTNC_000009.11:g.135779816C>TClinGen:CA16612762C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2023G>C (p.Asp675His)7248TSC1Uncertain significance-1RCV001921031; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779816135779816CG135779816-
NM_000368.5(TSC1):c.2022C>T (p.Val674=)7248TSC1Benign/Likely benignrs118203618RCV000042122|RCV000600188|RCV001014098|RCV001797596; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779817135779817GA9:g.135779817G>AClinGen:CA005777,Tuberous sclerosis database (TSC1):TSC1_00126CN169374 not specified;
NM_000368.5(TSC1):c.2022C>G (p.Val674=)7248TSC1Benign/Likely benignrs118203618RCV000863860|RCV001014124; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135779817135779817GC9:g.135779817G>C-
NM_000368.5(TSC1):c.2022C>A (p.Val674=)7248TSC1Likely benign-1RCV002149476; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779817135779817GT135779817-
NM_000368.5(TSC1):c.2021T>G (p.Val674Gly)7248TSC1Uncertain significancers1588305911RCV000821249; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779818135779818AC9:g.135779818A>C-
NM_000368.5(TSC1):c.2020G>A (p.Val674Ile)7248TSC1Uncertain significancers1845544758RCV001202159; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779819135779819CT9:g.135779819C>T-
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr)7248TSC1Conflicting interpretations of pathogenicityrs774835995RCV000705976|RCV001014066; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135779821135779821GTNC_000009.11:g.135779821G>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2018C>G (p.Ser673Cys)7248TSC1Uncertain significancers774835995RCV001325047; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779821135779821GC135779821-
NM_000368.5(TSC1):c.2016G>A (p.Lys672=)7248TSC1Likely benign-1RCV001395006; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779823135779823CT135779823-
NM_000368.5(TSC1):c.2013C>A (p.Ser671Arg)7248TSC1Uncertain significancers1845545985RCV001307595; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779826135779826GT135779826-
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile)7248TSC1Uncertain significancers1845546239RCV001333393; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779827135779827CA135779827-
NM_000368.5(TSC1):c.2011A>G (p.Ser671Gly)7248TSC1Uncertain significance-1RCV002008380; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779828135779828TC135779828-
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)7248TSC1Likely benignrs1588305958RCV000904598; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779829135779829GA9:g.135779829G>A-
NC_000009.12:g.132904457_132904458insAAAAAGGCAACCTA7248TSC1Pathogenic-1RCV001051025; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779832135779833TTAAAGGCAACCTAAA9:g.135779832_135779833insAAAGGCAACCTAAA-
NM_000368.5(TSC1):c.2006T>G (p.Leu669Ter)7248TSC1Pathogenicrs118203617RCV000042121|RCV001203717; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779833135779833AC9:g.135779833A>CClinGen:CA005764,Tuberous sclerosis database (TSC1):TSC1_00252C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.2006T>C (p.Leu669Ser)7248TSC1Uncertain significancers118203617RCV000642004; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779833135779833AGNC_000009.11:g.135779833A>GClinGen:CA375361471C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu)7248TSC1Uncertain significance-1RCV001371538; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779836135779836GA135779836-
NM_000368.5(TSC1):c.1999T>C (p.Leu667=)7248TSC1Likely benign-1RCV001484438; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779840135779840AG135779840-
NM_000368.5(TSC1):c.1998-1G>C7248TSC1Pathogenicrs118203614RCV000042118|RCV001058298; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779842135779842CG9:g.135779842C>GClinGen:CA005737,Tuberous sclerosis database (TSC1):TSC1_00381C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.1998-1G>T7248TSC1Pathogenicrs118203614RCV000228255; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779842135779842CA9:g.135779842C>AClinGen:CA10582626C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1998-4C>T7248TSC1Likely benignrs1179883422RCV000872244|RCV001481267; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779845135779845GA9:g.135779845G>A-
NM_000368.5(TSC1):c.1998-5C>T7248TSC1Likely benign-1RCV001450570; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779846135779846GA135779846-
NM_000368.5(TSC1):c.1998-7T>G7248TSC1Likely benign-1RCV001395734; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779848135779848AC135779848-
NM_000368.5(TSC1):c.1998-11dup7248TSC1Likely benignrs1388433086RCV000642076; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779849135779850GGANC_000009.11:g.135779852dupClinGen:CA591048369C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1998-24_1998-9dup7248TSC1Likely benign-1RCV002097391; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779849135779850GGAAAGTTTTTGAGTAAC135779849-
NM_000368.5(TSC1):c.1998-14A>G7248TSC1Uncertain significance-1RCV001885589; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779855135779855TC135779855-
NM_000368.5(TSC1):c.1998-16A>T7248TSC1Likely benign-1RCV002192259; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779857135779857TA135779857-
NM_000368.5(TSC1):c.1998-16A>C7248TSC1Likely benign-1RCV002190208; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779857135779857TG135779857-
NM_000368.5(TSC1):c.1998-18C>G7248TSC1Likely benign-1RCV002216536; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779859135779859GC135779859-
NM_000368.5(TSC1):c.1998-19T>G7248TSC1Benignrs184408837RCV000125631|RCV002055587; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779860135779860AC9:g.135779860A>CClinGen:CA005723CN169374 not specified;
NM_000368.5(TSC1):c.1998-19T>C7248TSC1Likely benign-1RCV002105165; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779860135779860AG135779860-
NM_000368.5(TSC1):c.1998-20C>T7248TSC1Likely benign-1RCV002117677; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135779861135779861GA135779861-
NM_000368.5(TSC1):c.1997+18T>C7248TSC1Likely benign-1RCV002113976; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780950135780950AG135780950-
NM_000368.5(TSC1):c.1997+18T>A7248TSC1Likely benign-1RCV002109238; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780950135780950AT135780950-
NM_000368.5(TSC1):c.1997+17C>G7248TSC1Likely benignrs397514860RCV000055002|RCV002054883; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780951135780951GC9:g.135780951G>CClinGen:CA005704,Tuberous sclerosis database (TSC1):TSC1_00695C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.1997+17C>T7248TSC1Likely benign-1RCV002081744; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780951135780951GA135780951-
NM_000368.5(TSC1):c.1997+16A>T7248TSC1Likely benign-1RCV002110878; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780952135780952TA135780952-
NM_000368.5(TSC1):c.1997+16A>G7248TSC1Likely benign-1RCV002119628; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780952135780952TC135780952-
NM_000368.5(TSC1):c.1997+12G>T7248TSC1Likely benign-1RCV002102895; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780956135780956CA135780956-
NM_000368.5(TSC1):c.1997+9C>T7248TSC1Likely benignrs371043832RCV000477153; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780959135780959GANC_000009.11:g.135780959G>AClinGen:CA16612575C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1997+9C>G7248TSC1Likely benign-1RCV002097248; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780959135780959GC135780959-
NM_000368.5(TSC1):c.1997+6G>A7248TSC1Uncertain significancers553762962RCV001169585|RCV001169586; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135780962135780962CT9:g.135780962C>T-
NM_000368.5(TSC1):c.1997+5G>A7248TSC1Uncertain significance-1RCV002031440; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780963135780963CT135780963-
NM_000368.5(TSC1):c.1997+4del7248TSC1Uncertain significance-1RCV001867340; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780964135780964CTC135780963-
NM_000368.5(TSC1):c.1997+4A>G7248TSC1Uncertain significance-1RCV002041474; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780964135780964TC135780964-
NM_000368.5(TSC1):c.1997+3A>G7248TSC1Uncertain significancers1554815682RCV000533666; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780965135780965TC9:g.135780965T>CClinGen:CA658656071C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1997+2T>G7248TSC1Likely pathogenic-1RCV001377906; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780966135780966AC135780966-
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg)7248TSC1Benign/Likely benignrs1419720341RCV000546131|RCV001014009; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135780968135780968TC9:g.135780968T>CClinGen:CA375362211C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)7248TSC1Pathogenicrs1845604585RCV001199385; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780969135780969TA9:g.135780969T>A-
NM_000368.5(TSC1):c.1996A>G (p.Lys666Glu)7248TSC1Uncertain significancers1845604585RCV001295441; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780969135780969TC135780969-
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys)7248TSC1Uncertain significancers748733167RCV000799145; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780970135780970GC9:g.135780970G>C-
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val)7248TSC1Uncertain significancers1845605103RCV001037895|RCV001819743; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135780977135780977TA9:g.135780977T>A-
NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)7248TSC1Pathogenicrs886041538RCV000379901|RCV000557618; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780978135780978CA9:g.135780978C>AClinGen:CA10603105CN517202 not provided;
NM_000368.5(TSC1):c.1986G>A (p.Lys662=)7248TSC1Likely benign-1RCV002166301; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780979135780979CT135780979-
NM_000368.5(TSC1):c.1980C>T (p.His660=)7248TSC1Likely benign-1RCV001417711; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780985135780985GA135780985-
NM_000368.5(TSC1):c.1977G>A (p.Ala659=)7248TSC1Conflicting interpretations of pathogenicityrs35958226RCV000125630|RCV000163606|RCV000349110|RCV000487765|RCV001084306; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet9135780988135780988CT9:g.135780988C>TClinGen:CA005699C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.1977G>T (p.Ala659=)7248TSC1Likely benign-1RCV001451457; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780988135780988CA135780988-
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val)7248TSC1Benign/Likely benignrs118203609RCV000042113|RCV000469663|RCV000570911|RCV001002541; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN1693749135780989135780989GA9:g.135780989G>AClinGen:CA005692,Tuberous sclerosis database (TSC1):TSC1_00124C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr)7248TSC1Conflicting interpretations of pathogenicityrs914628341RCV000545216|RCV001013813; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135780990135780990CT9:g.135780990C>TClinGen:CA200888114C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu)7248TSC1Conflicting interpretations of pathogenicityrs118203608RCV000042112|RCV000841758|RCV001056632; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780991135780991GC9:g.135780991G>CClinGen:CA005685,Tuberous sclerosis database (TSC1):TSC1_00123C0041341 Tuberous sclerosis syndrome;
NM_000368.5(TSC1):c.1974C>T (p.Asp658=)7248TSC1Benign/Likely benignrs118203608RCV000571403|RCV001082512|RCV001696910; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135780991135780991GANC_000009.11:g.135780991G>AClinGen:CA030293C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1974C>A (p.Asp658Glu)7248TSC1Uncertain significance-1RCV001989095; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780991135780991GT135780991-
NM_000368.5(TSC1):c.1970C>G (p.Ala657Gly)7248TSC1Uncertain significancers1845606482RCV001246123; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780995135780995GC9:g.135780995G>C-
NM_000368.5(TSC1):c.1966G>T (p.Gly656Ter)7248TSC1Pathogenic-1RCV001864151; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135780999135780999CA135780999-
NM_000368.5(TSC1):c.1962G>C (p.Gln654His)7248TSC1Uncertain significancers1845607280RCV001240574; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781003135781003CG9:g.135781003C>G-
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)7248TSC1Conflicting interpretations of pathogenicityrs75820036RCV000034604|RCV000054846|RCV000186670|RCV000234486|RCV000570330; NMedGen:CN517202|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781005135781005GC9:g.135781005G>CTuberous sclerosis database (TSC1):TSC1_00282,ClinGen:CA005650,UniProtKB:Q92574#VAR_009407C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)7248TSC1Pathogenicrs118203603RCV000042108|RCV000201178; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781005135781006GGT9:g.135781005_135781006insTClinGen:CA262220,Tuberous sclerosis database (TSC1):TSC1_00121C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)7248TSC1Pathogenicrs75820036RCV000042109|RCV000713908|RCV000698745; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781005135781005GA9:g.135781005G>AClinGen:CA005658,Tuberous sclerosis database (TSC1):TSC1_00122C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1960C>A (p.Gln654Lys)7248TSC1Uncertain significancers75820036RCV000532752; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781005135781005GT9:g.135781005G>TClinGen:CA375362402C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1956_1960delinsTCAGGG (p.Ile653fs)7248TSC1Pathogenicrs1845607838RCV001243019; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781005135781009GTATCCCCTGA9:g.135781005_135781006insCCTGA-
NM_000368.5(TSC1):c.1956G>T (p.Leu652=)7248TSC1Likely benign-1RCV001441382; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781009135781009CA135781009-
NM_000368.5(TSC1):c.1954C>T (p.Leu652=)7248TSC1Likely benignrs747452647RCV000642090; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781011135781011GANC_000009.11:g.135781011G>AClinGen:CA030232C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1950C>T (p.Asp650=)7248TSC1Likely benign-1RCV001459505; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781015135781015GA135781015-
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly)7248TSC1Uncertain significancers939275328RCV000552146; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781016135781016TC9:g.135781016T>CClinGen:CA200888178C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1944dup (p.Leu649fs)7248TSC1Pathogenic-1RCV001941752; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781020135781021GGC135781020-
NM_000368.5(TSC1):c.1944G>A (p.Val648=)7248TSC1Likely benignrs1554815720RCV000544277; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781021135781021CTNC_000009.11:g.135781021C>TClinGen:CA467812932C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala)7248TSC1Conflicting interpretations of pathogenicityrs771341361RCV000782213|RCV001013799|RCV001082729; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781022135781022AGNC_000009.11:g.135781022A>GClinGen:CA030214C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1939G>A (p.Glu647Lys)7248TSC1Uncertain significancers1171512070RCV000704325; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781026135781026CTNC_000009.11:g.135781026C>T-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1939G>T (p.Glu647Ter)7248TSC1Pathogenicrs1171512070RCV001211168; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781026135781026CA9:g.135781026C>A-
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)7248TSC1Uncertain significancers1588308288RCV000803752|RCV001331173; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135781028135781028AG9:g.135781028A>G-
NM_000368.5(TSC1):c.1936dup (p.Met646fs)7248TSC1Pathogenic-1RCV001942746; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781028135781029AAT135781028-
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)7248TSC1Benign/Likely benignrs145741748RCV000130315|RCV000189851|RCV000295067|RCV000464079|RCV001579757; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:268994|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN519135781029135781029TC9:g.135781029T>CClinGen:CA005613C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.1935A>G (p.Pro645=)7248TSC1Likely benignrs1588308312RCV000878425|RCV001483718; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781030135781030TC9:g.135781030T>C-
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu)7248TSC1Conflicting interpretations of pathogenicityrs1269162063RCV000642005|RCV001013644|RCV001496179|RCV001554285; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:8059135781031135781031GANC_000009.11:g.135781031G>AClinGen:CA375362586C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala)7248TSC1Conflicting interpretations of pathogenicityrs1485955306RCV000566852|RCV000808127|RCV001770526; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781038135781038TCNC_000009.11:g.135781038T>CClinGen:CA375362637C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1925C>T (p.Ser642Phe)7248TSC1Uncertain significancers1845610761RCV001307609; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781040135781040GA135781040-
NM_000368.5(TSC1):c.1922C>A (p.Pro641His)7248TSC1Conflicting interpretations of pathogenicityrs397514863RCV000055006|RCV001013706|RCV000555785; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781043135781043GT9:g.135781043G>TClinGen:CA005606,Tuberous sclerosis database (TSC1):TSC1_00690C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1922C>T (p.Pro641Leu)7248TSC1Uncertain significancers397514863RCV001055534; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781043135781043GA9:g.135781043G>A-
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)7248TSC1Conflicting interpretations of pathogenicityrs374222196RCV000122190|RCV000163665|RCV000725780|RCV001080054; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781044135781044GA9:g.135781044G>AClinGen:CA005597C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1918dup (p.Val640fs)7248TSC1Pathogenic-1RCV001956052; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781046135781047AAC135781046-
NM_000368.5(TSC1):c.1919T>A (p.Val640Glu)7248TSC1Uncertain significance-1RCV001979324; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781046135781046AT135781046-
NM_000368.5(TSC1):c.1918G>A (p.Val640Met)7248TSC1Uncertain significance-1RCV001929519; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781047135781047CT135781047-
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val)7248TSC1Conflicting interpretations of pathogenicityrs372583166RCV000473830|RCV000491881|RCV001090688; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135781049135781049CANC_000009.11:g.135781049C>AClinGen:CA030103C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp)7248TSC1Uncertain significancers372583166RCV000538760|RCV000563536; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781049135781049CT9:g.135781049C>TClinGen:CA030082C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1911A>C (p.Glu637Asp)7248TSC1Uncertain significancers1845611837RCV001345309; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781054135781054TG135781054-
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)7248TSC1Pathogenicrs118203599RCV000042103|RCV000054920|RCV000824628|RCV001090689; NMedGen:C0041341,OMIM:PS191100, Orphanet:805|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781057135781058CCTCNC_000009.11:g.135781057_135781058delCTClinGen:CA005566,Tuberous sclerosis database (TSC1):TSC1_00118C0005684 109800 Bladder cancer, somatic;
NM_000368.5(TSC1):c.1908G>A (p.Glu636=)7248TSC1Likely benignrs1588308443RCV000928173|RCV001447088; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781057135781057CT9:g.135781057C>T-
NM_000368.5(TSC1):c.1906G>C (p.Glu636Gln)7248TSC1Uncertain significancers1588308465RCV000796332; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781059135781059CG9:g.135781059C>G-
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)7248TSC1Pathogenicrs118203597RCV000005406|RCV000042102|RCV000713907; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172029135781060135781061CTGC9:g.135781060_135781061delClinGen:CA005548,Tuberous sclerosis database (TSC1):TSC1_00117,Tuberous sclerosis database (TSC1):TSC1_00223,OMIM:605284.0004C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1905A>G (p.Thr635=)7248TSC1Likely benign-1RCV002198652; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781060135781060TC135781060-
NM_000368.5(TSC1):c.1901A>G (p.Asn634Ser)7248TSC1Uncertain significance-1RCV001970263; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781064135781064TC135781064-
NM_000368.5(TSC1):c.1898G>A (p.Gly633Glu)7248TSC1Uncertain significancers1554815746RCV000512850|RCV001204906; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781067135781067CT9:g.135781067C>TClinGen:CA375362828CN517202 not provided;
NM_000368.5(TSC1):c.1898del (p.Gly633fs)7248TSC1Pathogenic-1RCV001386226; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781067135781067TCT135781066-
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg)7248TSC1Uncertain significance-1RCV001653085|RCV001882751; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781068135781068CT135781068-
NM_000368.5(TSC1):c.1896del (p.Gly633fs)7248TSC1Pathogenicrs1564480935RCV000699891; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781069135781069CTC9:g.135781069_135781069del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg)7248TSC1Uncertain significancers1554815747RCV000554858; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781070135781070TC9:g.135781070T>CClinGen:CA375362849C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1893A>T (p.Ala631=)7248TSC1Likely benign-1RCV002220934; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781072135781072TA135781072-
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)7248TSC1Pathogenic-1RCV000005403|RCV000042099|RCV000189868; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:C0041341,OMIM:PS191100, Orphanet:805|MedGen:CN5172029135781074135781077GCTTTG9:g.135781074_135781077delClinGen:CA005539,Tuberous sclerosis database (TSC1):TSC1_00116,Tuberous sclerosis database (TSC1):TSC1_00116 ,OMIM:605284.0001CN517202 not provided;
NM_000368.5(TSC1):c.1891G>A (p.Ala631Thr)7248TSC1Uncertain significancers1845613535RCV001258197; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781074135781074CT9:g.135781074C>T-
NM_000368.5(TSC1):c.1890A>G (p.Lys630=)7248TSC1Likely benign-1RCV001506603; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781075135781075TC135781075-
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln)7248TSC1Conflicting interpretations of pathogenicityrs1158059433RCV000642048|RCV001013563; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781077135781077TGNC_000009.11:g.135781077T>GClinGen:CA375362903C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1888A>G (p.Lys630Glu)7248TSC1Uncertain significancers1158059433RCV001308000; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781077135781077TC135781077-
NM_000368.5(TSC1):c.1888A>T (p.Lys630Ter)7248TSC1Pathogenic-1RCV001940344; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781077135781077TA135781077-
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln)7248TSC1Uncertain significancers1554815756RCV000525430; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781080135781081TTGCNC_000009.11:g.135781080_135781081delinsGCClinGen:CA658656079C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1884A>G (p.Leu628=)7248TSC1Likely benignrs1038140620RCV000542404|RCV001013533|RCV001731762; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135781081135781081TC9:g.135781081T>CClinGen:CA200888246C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1881G>A (p.Leu627=)7248TSC1Likely benign-1RCV001498375; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781084135781084CT135781084-
NM_000368.5(TSC1):c.1879C>T (p.Leu627=)7248TSC1Likely benignrs1171110012RCV000549446; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781086135781086GA9:g.135781086G>AClinGen:CA467813088C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1878G>A (p.Glu626=)7248TSC1Likely benignrs753424167RCV000217111|RCV000231545|RCV001572547; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781087135781087CT9:g.135781087C>TClinGen:CA030015C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1873_1876dup (p.Glu626fs)7248TSC1Pathogenic-1RCV001384179; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781088135781089TTCCTC135781088-
NM_000368.5(TSC1):c.1876G>A (p.Glu626Lys)7248TSC1Uncertain significancers397514815RCV001326373; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781089135781089CT135781089-
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)7248TSC1Conflicting interpretations of pathogenicityrs886038287RCV000246586|RCV001658164|RCV000475779; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781091135781091TGNC_000009.11:g.135781091T>GClinGen:CA10587021CN169374 not specified;
NM_000368.5(TSC1):c.1872dup (p.Glu625Ter)7248TSC1Pathogenic-1RCV001944574; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781092135781093CCA135781092-
NM_000368.5(TSC1):c.1872T>C (p.Thr624=)7248TSC1Likely benign-1RCV001413924; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781093135781093AG135781093-
NM_000368.5(TSC1):c.1872T>G (p.Thr624=)7248TSC1Likely benign-1RCV002199378; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781093135781093AC135781093-
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile)7248TSC1Uncertain significancers754401816RCV000536952|RCV001013415; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781094135781094GA9:g.135781094G>AClinGen:CA029981C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1871C>G (p.Thr624Ser)7248TSC1Uncertain significancers754401816RCV000701703; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781094135781094GCNC_000009.11:g.135781094G>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1869G>A (p.Lys623=)7248TSC1Likely benignrs778556382RCV000462615|RCV001013463; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781096135781096CTNC_000009.11:g.135781096C>TClinGen:CA029962C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1866G>A (p.Arg622=)7248TSC1Likely benign-1RCV002208154; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781099135781099CT135781099-
NM_000368.5(TSC1):c.1863C>T (p.Ile621=)7248TSC1Likely benignrs898222579RCV000529051; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781102135781102GA9:g.135781102G>AClinGen:CA200888292C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1860C>T (p.Val620=)7248TSC1Likely benignrs1588308756RCV000983302; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781105135781105GA9:g.135781105G>A-
NM_000368.5(TSC1):c.1858_1859del (p.Val620fs)7248TSC1Pathogenicrs1845617102RCV001208288; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781106135781107GACG9:g.135781106_135781107del-
NM_000368.5(TSC1):c.1855_1856inv (p.Phe619Asn)7248TSC1Uncertain significance-1RCV001207507; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781109135781110AATTNC_000009.11:g.135781109_135781110inv-
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val)7248TSC1Uncertain significancers1554815776RCV000641990|RCV001013355; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781110135781110ACNC_000009.11:g.135781110A>CClinGen:CA375363120C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1854T>C (p.His618=)7248TSC1Likely benign-1RCV001454368; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781111135781111AG135781111-
NM_000368.5(TSC1):c.1854T>G (p.His618Gln)7248TSC1Uncertain significance-1RCV002051315; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781111135781111AC135781111-
NM_000368.5(TSC1):c.1853A>G (p.His618Arg)7248TSC1Uncertain significance-1RCV001989293; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781112135781112TC135781112-
NM_000368.5(TSC1):c.1849_1852dup (p.His618fs)7248TSC1Pathogenic-1RCV001890177; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781112135781113TTGATG135781112-
NM_000368.5(TSC1):c.1852C>G (p.His618Asp)7248TSC1Uncertain significancers1588308804RCV000799036; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781113135781113GC9:g.135781113G>C-
NM_000368.5(TSC1):c.1852C>T (p.His618Tyr)7248TSC1Uncertain significance-1RCV001864746; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781113135781113GA135781113-
NM_000368.5(TSC1):c.1852C>A (p.His618Asn)7248TSC1Uncertain significance-1RCV001884360; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781113135781113GT135781113-
NM_000368.5(TSC1):c.1851T>C (p.His617=)7248TSC1Likely benign-1RCV002109791; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781114135781114AG135781114-
NM_000368.5(TSC1):c.1849del (p.His617fs)7248TSC1Pathogenicrs1564481122RCV000685891; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781116135781116TGT9:g.135781116_135781116del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1849C>T (p.His617Tyr)7248TSC1Uncertain significancers397514854RCV001211927; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781116135781116GA9:g.135781116G>A-
NM_000368.5(TSC1):c.1848C>T (p.Ala616=)7248TSC1Benignrs752286096RCV000642083; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781117135781117GA9:g.135781117G>AClinGen:CA029947C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1848C>G (p.Ala616=)7248TSC1Likely benignrs752286096RCV000920503; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781117135781117GC9:g.135781117G>C-
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr)7248TSC1Uncertain significancers1845618225RCV001222625; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781119135781119CT9:g.135781119C>T-
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile)7248TSC1Uncertain significancers1588308884RCV000804689; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781121135781121GA9:g.135781121G>A-
NM_000368.5(TSC1):c.1837C>T (p.Pro613Ser)7248TSC1Uncertain significance-1RCV001942701; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781128135781128GA135781128-
NM_000368.5(TSC1):c.1834T>C (p.Leu612=)7248TSC1Likely benign-1RCV002086275; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781131135781131AG135781131-
NM_000368.5(TSC1):c.1833A>G (p.Ala611=)7248TSC1Likely benignrs1240702401RCV000980716; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781132135781132TC9:g.135781132T>C-
NM_000368.5(TSC1):c.1829T>G (p.Val610Gly)7248TSC1Uncertain significance-1RCV001884907; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781136135781136AC135781136-
NM_000368.5(TSC1):c.1829T>C (p.Val610Ala)7248TSC1Uncertain significance-1RCV001988472; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781136135781136AG135781136-
NM_000368.5(TSC1):c.1828G>A (p.Val610Met)7248TSC1Uncertain significancers1845619200RCV001066903; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781137135781137CT9:g.135781137C>T-
NM_000368.5(TSC1):c.1825G>A (p.Glu609Lys)7248TSC1Uncertain significance-1RCV001899788; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781140135781140CT135781140-
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu)7248TSC1Uncertain significancers1845619679RCV001297447; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781143135781143AG135781143-
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe)7248TSC1Uncertain significancers1554815795RCV000575387|RCV001853805; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781146135781146GANC_000009.11:g.135781146G>AClinGen:CA375363304C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1818T>A (p.His606Gln)7248TSC1Benignrs758769193RCV000462659; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781147135781147ATNC_000009.11:g.135781147A>TClinGen:CA029913C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1817A>C (p.His606Pro)7248TSC1Uncertain significancers1845620152RCV001297539; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781148135781148TG135781148-
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr)7248TSC1Uncertain significancers1343881428RCV000798422; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781149135781149GA9:g.135781149G>A-
NM_000368.5(TSC1):c.1815T>A (p.Asp605Glu)7248TSC1Uncertain significance-1RCV001943848; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781150135781150AT135781150-
NM_000368.5(TSC1):c.1814A>G (p.Asp605Gly)7248TSC1Uncertain significancers994264701RCV000813504; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781151135781151TC9:g.135781151T>C-
NM_000368.5(TSC1):c.1814A>T (p.Asp605Val)7248TSC1Uncertain significancers994264701RCV001035684; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781151135781151TA9:g.135781151T>A-
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)7248TSC1Uncertain significancers1588309025RCV000795454|RCV001759502; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781152135781152CT9:g.135781152C>T-
NM_000368.5(TSC1):c.1813G>C (p.Asp605His)7248TSC1Uncertain significancers1588309025RCV001337561; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781152135781152CG135781152-
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys)7248TSC1Uncertain significancers1057522817RCV000436287|RCV000548490; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781154135781154TC9:g.135781154T>CClinGen:CA16605641CN169374 not specified;
NM_000368.5(TSC1):c.1809G>A (p.Pro603=)7248TSC1Benign/Likely benignrs112434645RCV000642060|RCV001013260; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781156135781156CTNC_000009.11:g.135781156C>TClinGen:CA029889C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1809G>T (p.Pro603=)7248TSC1Benign/Likely benignrs112434645RCV000918942|RCV001013261; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781156135781156CA9:g.135781156C>A-
NM_000368.5(TSC1):c.1809G>C (p.Pro603=)7248TSC1Likely benignrs112434645RCV000920659|RCV001418891; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781156135781156CG9:g.135781156C>G-
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu)7248TSC1Benign/Likely benignrs751247705RCV000474065|RCV001013251|RCV001705060; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN5172029135781157135781157GA9:g.135781157G>AClinGen:CA029874CN169374 not specified;
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)7248TSC1Uncertain significancers751247705RCV000688599; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781157135781157GCNC_000009.11:g.135781157G>C-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln)7248TSC1Uncertain significancers751247705RCV000807814; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781157135781157GT9:g.135781157G>T-
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)7248TSC1Uncertain significancers1588309097RCV000813610; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781160135781160GA9:g.135781160G>A-
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu)7248TSC1Conflicting interpretations of pathogenicityrs543077026RCV000606429|RCV000641985|RCV001013234; NMedGen:CN169374|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781163135781163GA9:g.135781163G>AClinGen:CA029825CN169374 not specified;
NM_000368.5(TSC1):c.1802C>A (p.Pro601His)7248TSC1Uncertain significancers543077026RCV001201723; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781163135781163GT9:g.135781163G>T-
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)7248TSC1Uncertain significancers1254353359RCV000536003|RCV001561371; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781165135781165CG9:g.135781165C>GClinGen:CA375363430C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1797del (p.Gln600fs)7248TSC1Pathogenic-1RCV001381589; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781168135781168GCG135781167-
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu)7248TSC1Uncertain significancers1845622314RCV001243935; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781169135781169CT9:g.135781169C>T-
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg)7248TSC1Conflicting interpretations of pathogenicityrs761959210RCV000438344|RCV001013121|RCV001085834; NMedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781170135781170CT9:g.135781170C>TClinGen:CA029789CN169374 not specified;
NM_000368.5(TSC1):c.1794C>T (p.Ser598=)7248TSC1Benign/Likely benignrs766438395RCV000828746|RCV001002398|RCV001013195|RCV001087929; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781171135781171GA9:g.135781171G>AClinGen:CA348664C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg)7248TSC1Uncertain significancers766438395RCV000641987; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781171135781171GT9:g.135781171G>TClinGen:CA375363473C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)7248TSC1Likely pathogenicrs1554815828RCV000660338; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781179135781183AAGCCCANC_000009.11:g.135781180_135781184del-C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1785C>A (p.Gly595=)7248TSC1Likely benign-1RCV001467401; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781180135781180GT135781180-
NM_000368.5(TSC1):c.1783G>T (p.Gly595Cys)7248TSC1Uncertain significance-1RCV001867813; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781182135781182CA135781182-
NM_000368.5(TSC1):c.1782G>A (p.Val594=)7248TSC1Likely benignrs1588309238RCV000935463|RCV001455146; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781183135781183CT9:g.135781183C>T-
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu)7248TSC1Uncertain significancers1060503194RCV000474044|RCV001013134; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781184135781184ATNC_000009.11:g.135781184A>TClinGen:CA16612455C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1781del (p.Val594fs)7248TSC1Pathogenicrs1554815829RCV000559976; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781184135781184CAC9:g.135781184_135781184delClinGen:CA658657918C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1780G>A (p.Val594Met)7248TSC1Uncertain significancers1845623814RCV001220593; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781185135781185CT9:g.135781185C>T-
NM_000368.5(TSC1):c.1779A>G (p.Arg593=)7248TSC1Benign/Likely benignrs964191879RCV000543019|RCV000612611|RCV001013147; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781186135781186TC9:g.135781186T>CClinGen:CA200888395CN169374 not specified;
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly)7248TSC1Conflicting interpretations of pathogenicityrs118203581RCV001013107|RCV001344396|RCV001766831; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781188135781188TC9:g.135781188T>C-
NM_000368.5(TSC1):c.1776G>A (p.Thr592=)7248TSC1Benign/Likely benignrs118203580RCV000569926|RCV000870087|RCV001697389; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN5172029135781189135781189CT9:g.135781189C>TClinGen:CA029763C0027672 Hereditary cancer-predisposing syndrome;
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met)7248TSC1Conflicting interpretations of pathogenicityrs775869914RCV000726144|RCV001079404|RCV001013102; NMedGen:CN517202|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781190135781190GA9:g.135781190G>AClinGen:CA029749CN169374 not specified;
NM_000368.5(TSC1):c.1775C>G (p.Thr592Arg)7248TSC1Uncertain significance-1RCV001892040; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781190135781190GC135781190-
NM_000368.5(TSC1):c.1773G>A (p.Pro591=)7248TSC1Benign/Likely benignrs146578402RCV000228779|RCV000241773|RCV000571783|RCV000308169; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|Human Phenotype Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341, Orphanet:2689949135781192135781192CT9:g.135781192C>TClinGen:CA029735C1846385 607341 Focal cortical dysplasia type II;
NM_000368.5(TSC1):c.1773G>T (p.Pro591=)7248TSC1Likely benign-1RCV001447762; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781192135781192CA135781192-
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu)7248TSC1Benignrs768985094RCV000458959; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:8059135781193135781193GANC_000009.11:g.135781193G>AClinGen:CA16612633C1854465 191100 Tuberous sclerosis 1;
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln)7248TSC1Benign/Likely benignrs768985094RCV000535112|RCV000567125; NMONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100, Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:1401629135781193135781193GT9:g.135781193G>TClinGen:CA029707C0027672 Hereditary cancer-predispo