Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect : The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon : number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA) : description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change : description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein : description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
P-domain : region/domain protein affected
Predict-BioInf : predicted effect of variant using bioinformatic analysis tools (e.g. AGVGD, CADD, conservation, Grantham, MutationTaster, PolyPhen, REVEL, SIFT, splicing, etc.)
Allele : On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method : The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification : Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19) : HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38) : HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as : listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN : description of the variant according to ISCN nomenclature
DB-ID : database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks : remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference : publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID : ID of variant in ClinVar database
dbSNP ID : the dbSNP ID
Origin : Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation : Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency : frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site : restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP : variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation : result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template : Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique : technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue : tissue type used for analysis
Remarks : remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report : ID of the individual that can be publically shared, e.g. as listed in a publication
Reference : reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks : remarks about the individual
Gender : gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity : indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country : where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population : population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death : age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP : individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av : are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment : treatment of patient
Effect
Exon
DNA change (cDNA)
RNA change
Protein
P-domain
Predict-BioInf
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
15i_22i
c.(1599+1_1600-1)_(2545+1_2546-1)[3]
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(2114429_2115519)_(2124391_2125799)[3]
g.(2064428_2065518)_(2074390_2075798)[3]
triplication of exons 15-21 inclusive
-
TSC2_001632
triplication of exons 16-22 inclusive resulting in 4 alleles (heterozygous triplication); signal ratios for probes in exons 16-22 reported as 2x above control levels indicating 4 alleles; reported as triplication of exons 15-21 (based on 41 exons)
unpublished
-
-
De novo
?
1/4 individuals tested has the variant
-
-
-
DNA
MCA, SEQ
Blood
-
-
-
unpublished
patient with MRI changes reported to be consistent with TSC; both parents and a sibling are apparently unaffected and all 3 tested negative for the variant
F
?
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_42_
c.-106_*102{0}
r.0?
p.0?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2088737_2264526del
-
NC_000016.9: g.2088737_2264526del
-
TSC2_001689
175790bp multigene deletion; entire TSC2 deleted (ex 1-42) + 9254bp upstream of TSC2 and 125814bp downstream of TSC2; upstream deletion involves NTHL1 gene and downstream deletion involves entire PKD1, RAB26, TRAF7, CASKIN1, MLST8 and BRICD5 genes
PubMed: Ogorek, 2020
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
01-004
PubMed: Ogorek, 2020
infant with drug resistant epilepsy; no history of TSC in the family; patient had first subclinical/clinical seizures at day 85 during the study
M
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_42_
c.-106_*102{0}
r.0?
p.0?
-
-
Unknown
-
pathogenic (dominant)
g.2097990_2138713{0}
g.2047989_2088712{0}
-
-
TSC2_001689
175790bp multigene deletion; entire TSC2 deleted (ex 1-42) + 9254bp upstream of TSC2 and 125814bp downstream of TSC2; upstream deletion involves NTHL1 gene and downstream deletion involves entire PKD1, RAB26, TRAF7, CASKIN1, MLST8 and BRICD5 genes
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_12i
c.-106_1258-159{0}
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2095658_2112339del
g.2045657_2062338del
NC_000016.9: g.2095658_2112339del
-
TSC2_001692
16682bp deletion; TSC2 exons 1-12 deleted + 2333bp upstream of TSC2; deletion ends in TSC2 intron 12; upstream deletion involves NTHL1 gene; variant at 7% MAF
PubMed: Ogorek, 2020
-
-
Unknown
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
01-057
PubMed: Ogorek, 2020
infant (mosaic) with drug resistant epilepsy; no history of TSC in the family; patient had first subclinical/clinical seizures at day 118 during the study
M
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_12i
c.-106_1258-159{0}
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2095658_2112339del
g.2045657_2062338del
-
-
TSC2_001692
16682bp deletion; TSC2 exons 1-12 deleted + 2333bp upstream of TSC2; deletion ends in TSC2 intron 12; upstream deletion involves NTHL1 gene
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_16i
c.-106_1716+1900{0}
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2046527_2117536del
-
NC_000016.9: g.2046527_2117536del, exon 1-15
-
TSC2_001690
71010bp multigene deletion; TSC2 exons 1-16 deleted + 51464bp upstream of TSC2; deletion ends in TSC2 intron 16; upstream deletion involves SLC9A3R2, NPW and NTHL1 genes
PubMed: Ogorek, 2020
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
07-003
PubMed: Ogorek, 2020
infant; no history of TSC in the family; patient did not have subclinical or clinical seizures during the study
M
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_16i
c.-106_1716+1900{0}
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2097990_2117536{0}
g.2047989_2067535{0}
-
-
TSC2_001690
71010bp multigene deletion; TSC2 exons 1-16 deleted + 51464bp upstream of TSC2; deletion ends in TSC2 intron 16; upstream deletion involves SLC9A3R2, NPW and NTHL1 genes
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_16i
c.-106_1717-2210{0}
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2086101_2118247del
g.2036100_2068246del
NC_000016.9: g.2086101_2118247del
-
TSC2_001691
32147bp deletion; TSC2 exons 1-16 deleted + 11890bp upstream of TSC2; deletion ends in TSC2 intron 16; upstream deletion involves NTHL1 gene
PubMed: Ogorek, 2020
-
-
Germline
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
01-028
PubMed: Ogorek, 2020
infant with drug resistant epilepsy; no history of TSC in the family; patient had first subclinical/clinical seizures at day 75 during the study
F
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_16i
c.-106_1717-2210{0}
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2086101_2118247del
g.2036100_2068246del
-
-
TSC2_001691
32147bp deletion; TSC2 exons 1-16 deleted + 11890bp upstream of TSC2; deletion ends in TSC2 intron 16; upstream deletion involves NTHL1 gene
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
38i_42_
c.4990-299_*102{0}
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2137565_2139331del
g.2087564_2089330del
NC_000016.9: g.2137565_2139331del
-
TSC2_001694
1767bp deletion; exons 39-42 deleted + 619bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 38; variant at 32% MAF
PubMed: Ogorek, 2020
-
-
Unknown
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
01-058
PubMed: Ogorek, 2020
infant; no history of TSC in the family; patient had first subclinical/clinical seizures at day 260 during the study
M
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
38i_42_
c.4990-299_*102{0}
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2137565_2139331del
g.2087564_2089330del
-
-
TSC2_001694
1767bp deletion; exons 39-42 deleted + 619bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 38
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
39i_42_
c.5068+11_*102{0}
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.2137951_2138954del
g.2087950_2088953del
NC_000016.9: g.2137951_2138954del, exon 39-41 deleted
-
TSC2_001693
1004bp deletion; exons 40-42 deleted + 242bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 39; variant at 11% MAF
PubMed: Ogorek, 2020
-
-
Unknown
?
-
-
-
-
DNA
MLPA, SEQ, SEQ-NG-I
Blood
Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×), MLPA TSC2 P337-B1 probe mix used, Genome sequencing also done, deletion confirmed by PCR across breakpoints, gel electrophoresis and Sanger sequencing
TSC
01-053
PubMed: Ogorek, 2020
infant is a mosaic; patient did not have subclinical or clinical seizures during the study
F
?
-
-
-
-
-
-
1
Rosemary Ekong
+/+
39i_42_
c.5068+11_*102{0}
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2137951_2138954del
g.2087950_2088953del
-
-
TSC2_001693
1004bp deletion; exons 40-42 deleted + 242bp downstream of TSC2, which includes part of PKD1 gene; deletion starts in TSC2 intron 39
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1
c.(?_-106)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)del
g.(?_2047989)del
deletion 5'UTR
-
TSC2_003645
deletion of region 5' of TSC2 gene; breakpoints undetermined; TSC2 MLPA kits P046-C1-1011 and P337-A2-0510 used
Journal: 10.4236/ajmb.2014.43018
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
890819
Journal: 10.4236/ajmb.2014.43018
patient with clinical diagnosis of TSC
?
-
Iran
-
-
-
-
-
1
Rosemary Ekong
?/?
_1
c.(?_-106)del
r.?
p.?
-
-
Unknown
-
VUS
g.(?_2097990)del
g.(?_2047989)del
-
-
TSC2_003645
deletion of region 5' of TSC2 gene; breakpoints undetermined
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-4447C>G
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2093649C>G
g.2043648C>G
NTHL1(NM_002528.7):c.604G>C (p.E202Q)
-
NTHL1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-4426C>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2093670C>T
g.2043669C>T
NTHL1(NM_002528.7):c.583G>A (p.D195N)
-
NTHL1_000189
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-4368C>T
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2093728C>T
-
NTHL1(NM_002528.7):c.526-1G>A
-
NTHL1_000228
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-4359_-4358del
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2093737_2093738del
-
NTHL1(NM_002528.7):c.526-11_526-10delCT
-
NTHL1_000232
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-4353G>C
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2093743G>C
g.2043742G>C
NTHL1(NM_002528.7):c.526-16C>G
-
NTHL1_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-3443A>G
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2094653A>G
g.2044652A>G
NTHL1(NM_002528.7):c.503T>C (p.I168T)
-
NTHL1_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-3443A>G
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2094653A>G
g.2044652A>G
NTHL1(NM_002528.7):c.503T>C (p.I168T)
-
NTHL1_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-3416G>A
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2094680G>A
g.2044679G>A
NTHL1(NM_002528.5):c.500C>T (p.(Thr167Ile))
-
NTHL1_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-3374C>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2094722C>T
g.2044721C>T
NTHL1(NM_002528.7):c.434G>A (p.R145Q)
-
NTHL1_000208
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_3i
c.-2600_226-765delinsN[273]
r.(?)
p.?
-
-
Unknown
-
pathogenic
g.2095496_2102578delinsN[273]
g.2045495_2052577delinsN[273]
c.-2600_226-765del6561ins273
-
TSC2_003588
del 7083bp and ins 273bp (NG_005895.1:g.1190_8272delins273); starts upstream of untranslated ex 1, includes promoter region (Kobayashi et al, 1997; Mamm Genome. 1997, 8:554-8), ending in intron 3; inserted seq available on request
unpublished
-
-
Germline
-
-
-
-
-
DNA
SEQ
Blood
-
TSC
-
unpublished
-
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_3i
c.-2600_226-765delinsN[273]
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.2095496_2102578delinsN[273]
g.2045495_2052577delinsN[273]
-
-
TSC2_003588
exons 1-3 deleted; 7083bp deletion and 273bp insertion (NG_005895.1:g.1190_8272delins273); starts upstream of untranslated ex 1, includes promoter region (Kobayashi et al, 1997; Mamm Genome. 1997, 8:554-8), ending in intron 3
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-1894A>G
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2096202A>G
g.2046201A>G
NTHL1(NM_002528.7):c.281T>C (p.M94T)
-
NTHL1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-1887G>A
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2096209G>A
g.2046208G>A
NTHL1(NM_002528.7):c.274C>T (p.R92C)
-
NTHL1_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-1887G>A
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2096209G>A
g.2046208G>A
NTHL1(NM_002528.7):c.274C>T (p.R92C)
-
NTHL1_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-1887G>A
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2096209G>A
g.2046208G>A
NTHL1(NM_002528.7):c.274C>T (p.R92C)
-
NTHL1_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
g.2046238G>A
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
g.2046238G>A
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
g.2046238G>A
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
g.2046238G>A
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
-
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-1857G>A
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2096239G>A
-
NTHL1(NM_002528.7):c.244C>T (p.Q82*)
-
NTHL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1765C>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2096331C>T
g.2046330C>T
NTHL1(NM_002528.5):c.176G>A (p.(Arg59Gln))
-
NTHL1_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1763C>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2096333C>T
-
NTHL1(NM_002528.7):c.150G>A (p.P50=)
-
NTHL1_000213
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-1759C>T
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2096337C>T
-
NTHL1(NM_002528.5):c.170G>A (p.(Arg57His))
-
NTHL1_000261
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1754C>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2096342C>T
g.2046341C>T
NTHL1(NM_002528.7):c.141G>A (p.V47=)
-
NTHL1_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1751G>A
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2096345G>A
g.2046344G>A
NTHL1(NM_002528.7):c.138C>T (p.P46=)
-
NTHL1_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-1712G>A
r.(?)
p.(=)
-
-
Unknown
-
benign
g.2096384G>A
g.2046383G>A
NTHL1(NM_002528.7):c.116-17C>T
-
NTHL1_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_1
c.-827_-84del
r.(?)
p.?
-
-
Unknown
-
pathogenic
g.2097269_2098012del
g.2047268_2048011del
c.-106-722_-85del; 744nt del includes part exon 1; sent seq in this nomenclature = c.-106-723_-86del
-
TSC2_003410
744nt del involving 23nt at 5' end of untranslated exon 1 and upstream sequence; HGVS compliant description = NG_005895.1:g.2963_3706del (considers most 3' nts as affected); variant at 50% freq; NGS read depth >500x
PubMed: Tyburczy, 2015
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG-I
Saliva
-
TSC
P33
PubMed: Tyburczy, 2015
8 year old TSC patient with NMI status (previous Sanger SEQ and TSC2 MLPA negative); no FH of TS; both parents tested and variant not found
M
-
-
-
-
-
-
-
1
Rosemary Ekong
?/?
_1_1
c.-827_-84del
r.(?)
p.?
-
-
Unknown
-
VUS
g.2097269_2098012del
g.2047268_2048011del
-
-
TSC2_003410
744nt deletion involving 23nt at 5' end of untranslated exon 1 and upstream sequence; involves the core promoter region (Kobayashi et al, 1997. DOI: 10.1007/s003359900502); HGVS compliant description = NG_005895.1:g.2963_3706del
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-403C>T
r.(?)
p.(=)
-
-
Unknown
-
benign
g.2097693C>T
g.2047692C>T
NTHL1(NM_002528.7):c.115+17G>A
-
NTHL1_000255
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-387C>T
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2097709C>T
-
NTHL1(NM_002528.7):c.115+1G>A
-
NTHL1_000230
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.-387C>T
r.(?)
p.(=)
-
-
Unknown
-
pathogenic
g.2097709C>T
-
NTHL1(NM_002528.7):c.115+1G>A
-
NTHL1_000230
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-384G>A
r.(?)
p.(=)
-
-
Unknown
-
benign
g.2097712G>A
g.2047711G>A
NTHL1(NM_002528.7):c.113C>T (p.A38V)
-
NTHL1_000231
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-315A>G
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2097781A>G
-
NTHL1(NM_002528.7):c.44T>C (p.L15P)
-
NTHL1_000262
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-300G>C
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2097796G>C
g.2047795G>C
NTHL1(NM_002528.7):c.29C>G (p.T10S)
-
NTHL1_000256
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-256A>C
r.(?)
p.(=)
-
-
Unknown
-
VUS
g.2097840A>C
-
TSC2(NM_000548.5):c.-256A>C
-
NTHL1_000308
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-235T>C
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2097861T>C
g.2047860T>C
NTHL1(NM_002528.7):c.-37A>G
-
NTHL1_000257
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
_1
c.-115G>T
r.(?)
p.(=)
-
-
Unknown
-
benign
g.2097981G>T
g.2047980G>T
-636G>T
-
TSC2_002760
cDNA sequenced in proband and sibling; balanced allelic expression found; variant is 9 bases 5' of the untranslated exon 1
unpublished
-
-
Germline
-
-
MmeI+
-
-
DNA, RNA
SEQ
Blood
-
TSC
-
unpublished
variant seen in proband and a healthy sibling; reported that proband does not fulfil TSC diagnostic criteria and no definite disease-causing variant seen in proband; the one parent tested does not have this variant
?
-
-
-
-
-
-
-
2
Rosemary Ekong
-?/-?
_1
c.-115G>T
r.(?)
p.(=)
-
-
Unknown
-
likely benign
g.2097981G>T
g.2047980G>T
-
-
TSC2_002760
variant is 9 bases 5' of the untranslated exon 1 and is between 2 cETS binding sites in the core promoter region (Kobayashi et al, 1997. DOI: 10.1007/s003359900502)
-
-
-
SUMMARY record
-
-
MmeI+
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.(?_-106)_(138+1_139-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_( 2098755_ 2100400)del
-
NM_000548.3:c.(?_-29) _(225_?)del
-
TSC2_002459
exons 1-2 deleted; ~25% mosaic; breakpoints not determined; reported that variant description is based on 42 exons which includes the noncoding exon 1
PubMed: Byers 2018
-
-
Germline
?
-
-
-
-
DNA
MLPA
Blood, Skin
cultured skin fibroblasts from hypopigmented macule and normal skin tested, Array-CGH from buccal swab normal, Sanger SEQ of blood DNA negative
TSC
-
PubMed: Byers 2018
patient with germline mosaicism and multiple TSC features; at 4yrs old speech was at the 12-month level - Dx of ASD; brain MRI at 3yrs 2mths showed multiple TSC features; renal USS and cardiac ECG normal; mother, father and a paternal half-brother examined and no signs of TSC reported
M
?
United States
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_2i
c.(?_-106)_(138+1_139-1)del
r.0?
p.0?
-
-
Unknown
-
likely pathogenic (dominant)
g.(?_2097990)_( 2098755_ 2100400)del
-
-
-
TSC2_002459
exons 1-2 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2i
c.(?_-106)_(138+1_139-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2098755_2100400)del
g.(?_2047989)_(2048754_2050399)del
deletion exon 1 and upstream
-
TSC2_002459
deletion involves exon 2 and upstream region; boundaries of deletion not determined
unpublished
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
-
unpublished
No other family member tested
M
-
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_3i
c.(?_-106)_(225+1_226-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2100488_2103342)del
g.(?_2047989)_(2050487_2053341)del
deletion exon 1 to 2 and upstream
-
TSC2_003018
deletion involves upstream region and exons 1-3
unpublished
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
-
unpublished
No other family member tested
F
-
-
-
-
-
-
-
1
Rosemary Ekong
+?/+?
_1_3i
c.(?_-106)_(225+1_226-1)del
r.0?
p.?
-
-
Unknown
-
likely pathogenic (dominant)
g.(?_2097990)_(2100488_2103342)del
g.(?_2047989)_(2050487_2053341)del
-
-
TSC2_003018
exons 1-3 deleted, including region upstream of TSC2
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_10i
c.(?_-106)_(975+1_976-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2108875_2110670)del
g.(?_2047989)_(2058874_2060669)del
Exons 1-10, TSC2del e1-e10 p.?
-
TSC2_003688
exons 1-10 deleted
PubMed: Rosset, 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-IT
Blood
-
TSC
12
PubMed: Rosset, 2017
-
?
-
Brazil
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_10i
c.(?_-106)_(975+1_976-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2108875_2110670)del
g.(?_2047989)_(2058874_2060669)del
-
-
TSC2_003688
exons 1-10 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_11i
c.(?_-106)_(1119+1_1120-1)del
r.0?
p.0?
-
-
Maternal (confirmed)
-
pathogenic
g.(?_2097990)_(2110815_2111871)del
g.(?_2047989)_(2060814_2061870)del
deletion exon 1-11
-
TSC2_003519
exons 1-11 deleted
PubMed: Bai, 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, MLPA
Blood
-
TSC
8
PubMed: Bai, 2017
affected child and affected mother have the variant
?
-
China
-
-
-
-
-
2
Rosemary Ekong
+/+
_1_11i
c.(?_-106)_(1119+1_1120-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2110815_2111871)del
g.(?_2047989)_(2060814_2061870)del
-
-
TSC2_003519
exons 1-11 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_13i
c.(?_-106)_(1361+1_1362-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2112602_2112972)del
g.(?_2047989)_(2062601_2062971)del
exons 1-12 deleted; TSC2del 5'1-e12; [TSC2.-9465_14050del23515; -9466_14051ins37(inv63261_63297)]
-
TSC2_003432
TSC2 exons 1-13 deleted; 23,515bp deletion extends ~10kb 5' of TSC2 and involves NTHL1 gene, with insertion of 37bp from PKD1 gene; breakpoints flanked by nts. C and CCTG
PubMed: Kozlowski, 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
BHM15501
PubMed: Kozlowski, 2007
patient with clinical diagnosis of TSC; other family members with TS but no indication if tested
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_13i
c.(?_-106)_(1361+1_1362-1)del
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2112602_2112972)del
g.(?_2047989)_(2062601_2062971)del
-
-
TSC2_003432
exons 1-13 deleted; 23,515bp deletion extends ~10kb 5' of TSC2 and involves NTHL1 gene, with insertion of 37bp from PKD1 gene
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_15i
c.(?_-106)_(1599+1_1600-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2114429_2115519)del
g.(?_2047989)_(2064428_2065518)del
TSC2del 5'3-e14
-
TSC2_003475
ex 1-15 del; del extends >15kb 5' of TSC2, involves SLC9A3R2 and NTHL1 genes, ends in intron 15
PubMed: Au, 2007 , PubMed: Kozlowski, 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA, Southern
Blood
-
TSC
TS00-353
PubMed: Au, 2007 , PubMed: Kozlowski, 2007
-
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_15i
c.(?_-106)_(1599+1_1600-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2114429_2115519)del
g.(?_2047989)_(2064428_2065518)del
TSC2 del ex1-15
-
TSC2_003475
MLPA kits TSC2 P046 and P337 used (42 exons)
PubMed: Suspitsin, 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG-I
Blood
-
TSC
MG67
PubMed: Suspitsin, 2018
18 mth old index with clinical signs of TSC
F
-
Russia
Slavic
-
-
-
-
1
Rosemary Ekong
+/+
_1_15i
c.(?_-106)_(1599+1_1600-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2114429_2115519)del
g.(?_2047989)_(2064428_2065518)del
-
-
TSC2_003475
exons 1-15 deleted; deletion extends >15kb 5' of TSC2, involves SLC9A3R2 and NTHL1 genes, ends in intron 15
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_16i
c.(?_-106)_(1716+1_1717-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2115637_2120456)del
g.(?_2047989)_(2065636_2070455)del
TSC2 del 5'3-e15
-
TSC2_003382
ex 1-16 deletion previously reported as exons 4 and 7 deleted (Dabora, 2001); deletion refined in Kozlowski (2007) to a deletion that extends >15kb 5' of TSC2, involves SLC9A3R2 and NTHL1 genes, and ends in intron 16
PubMed: Dabora, 2001 , PubMed: Kozlowski, 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRq
Blood
-
TSC
ONK116-1
PubMed: Dabora, 2001 , PubMed: Kozlowski, 2007
same patient reported in both papers
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_16i
c.(?_-106)_(1716+1_1717-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2115637_2120456)del
g.(?_2047989)_(2065636_2070455)del
exons 1 to 15 and 5' region of TSC2
-
TSC2_003382
16.9kb MLPA deletion involving exons 1-16 and 5' region of TSC2 (extend of deletion not determined); confirmed as a 210kb deletion by karyomapping
PubMed: GimÈnez, 2015
-
-
De novo
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
-
PubMed: GimÈnez, 2015
32 yr old diagnosed with TSC; reported as having renal symptoms; no other family member has the deletion
F
-
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_16i
c.(?_-106)_(1716+1_1717-1)del
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2115637_2120456)del
g.(?_2047989)_(2065636_2070455)del
Exons 1-16 Deletion
-
TSC2_003382
exons 1-16 deleted; found in cortical tuber
PubMed: Wang, 2020
-
-
Somatic
-
-
-
-
-
DNA
SEQ
Brain tuber
-
TSC
-
PubMed: Wang, 2020
cortical tuber from patient with TSC analysed
F
?
China
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_16i
c.(?_-106)_(1716+1_1717-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2115637_2120456)del
g.(?_2047989)_(2065636_2070455)del
-
-
TSC2_003382
exons 1-16 deleted; deletion extends >15kb 5' of TSC2, involves SLC9A3R2 and NTHL1 genes, and ends in intron 16
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_20i
c.(?_-106)_(2220+1_2221-1)del
r.?
p.?
-
-
Unknown
ACMG
pathogenic (dominant)
g.(?_2097990)_(2122365_2122849)del
g.(?_2047989)_(2072364_2072848)del
1-20, Exons 1–20 deleted
-
TSC2_001917
MLPA kit P046–C1 used
PubMed: Ng, 2022
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
all exons, adjacent splice sites and 10 intronic bases flanking each exon analysed, variants verified by Sanger sequencing.
TSC
-
PubMed: Ng, 2022
patient with definite TSC
-
-
Hong Kong
China
-
-
-
-
1
Rosemary Ekong
+/+
_1_20i
c.(?_-106)_(2220+1_2221-1)del
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2122365_2122849)del
g.(?_2047989)_(2072364_2072848)del
-
-
TSC2_001917
-
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_27i
c.(?_-106)_(3131+1_3132-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2129198_2129276)del
g.(?_2047989)_(2079197_2079275)del
TSC2 del ex 1-27
-
TSC2_003689
exons 1-27 deleted; MLPA kits TSC2 P046 and P337 used (42 exons)
PubMed: Suspitsin, 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG-I
Blood
-
TSC
MG164
PubMed: Suspitsin, 2018
1yr 6mth old index with clinical signs of TSC
F
-
Russia
Slavic
-
-
-
-
1
Rosemary Ekong
+/+
_1_27i
c.(?_-106)_(3131+1_3132-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2129198_2129276)del
g.(?_2047989)_(2079197_2079275)del
-
-
TSC2_003689
exons 1-27 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_27i
c.(?_-106)_(3131+1_3132-1)dup
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2129198_2129276dup
g.(?_2047989)_(2079197_2079275dup
duplication 5'UTR and exon 27
-
TSC2_003686
suspected duplication of region 5' of TSC2 gene and TSC2 exon 27; TSC2 MLPA kits P046-C1-1011 and P337-A2-0510 used
Journal: 10.4236/ajmb.2014.43018
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
890801
Journal: 10.4236/ajmb.2014.43018
patient with clinical diagnosis of TSC
?
-
Iran
-
-
-
-
-
1
Rosemary Ekong
?/?
_1_27i
c.(?_-106)_(3131+1_3132-1)dup
r.0?
p.?
-
-
Unknown
-
VUS
g.(?_2097990)_(2129198_2129276)dup
g.(?_2047989)_(2079197_2079275)dup
-
-
TSC2_003686
exons 1-27 duplicated; duplication of region 5' of TSC2 gene and TSC2 exon 27
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_29i
c.(?_-106)_(3397+1_3398-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2129671_2130165)del
g.(?_2047989)_(2079670_2080164)del
Del 1-29 exons
-
TSC2_003690
exons 1-29 deleted; variant confirmed by Sanger sequencing
PubMed: Papadopoulou, 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-R, SEQ
Blood
-
TSC
2
PubMed: Papadopoulou, 2018
patient diagnosed with TSC at 5yrs, last reviewed at 12yrs; seizures controlled
F
-
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_29i
c.(?_-106)_(3397+1_3398-1)del
r.0?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2129671_2130165)del
g.(?_2047989)_(2079670_2080164)del
-
-
TSC2_003690
exons 1-29 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_34i
c.(?_-106)_(4493+1_4494-1)del
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2134717_2134951)del
g.(?_2047989)_(2084716_2084950)del
c.(?_1)_4493+?del
-
TSC2_003759
exons 1-34 deleted (based on 42 exons)
unpublished
-
-
Germline
-
-
-
-
-
DNA
MLPA
Blood
-
TSC
-
unpublished
-
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_34i
c.(?_-106)_(4493+1_4494-1)del
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2134717_2134951)del
g.(?_2047989)_(2084716_2084950)del
-
-
TSC2_003759
exons 1-34 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_37i
c.(?_-106)_(4849+1_4850-1)del
r.?
p.?
-
-
Unknown
-
pathogenic
g.(?_2097990)_(2136381_2136732)del
-
Exons 1-37
-
TSC2_004242
exons 1-37 deleted
PubMed: Lin 2019
-
-
Germline
?
-
-
-
-
DNA
MLPA
Blood
MLPA kit P046-C1 used
TSC
-
PubMed: Lin 2019
clinically diagnosed with TSC; TSC features not specified
?
?
China
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_37i
c.(?_-106)_(4849+1_4850-1)del
r.?
p.?
-
-
Unknown
-
pathogenic (dominant)
g.(?_2097990)_(2136381_2136729)del
-
-
-
TSC2_004242
exons 1-37 deleted
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(1000)
-
-
-
TSC2_001442
~1kb intragenic deletion in patient and affected parent (2/2 affecteds); variant identified using cDNA probe E0.7
PubMed: European TSC consortium 1993
-
-
Germline
yes
-
-
-
-
DNA
Southern
Blood
-
TSC
-
PubMed: European TSC consortium 1993
affected parent screened
?
?
-
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(1000)
-
-
-
TSC2_001442
~1kb intragenic deletion in patient but absent in both parents
PubMed: Jones 1997
-
-
De novo
no
1/6 chromosomes
-
-
-
DNA
PFGE, Southern
Blood
-
TSC
-
PubMed: Jones 1997
-
?
?
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(1000)
-
1kb deletion
-
TSC2_001442
deletion 1kb found using cDNA probe 4.9E0.7; variant in more than one affected
PubMed: European TSC consortium 1993
-
-
Germline
yes
-
-
-
-
DNA
Southern
Blood
-
TSC
-
PubMed: European TSC consortium 1993
-
?
?
Netherlands
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del1000
g.(2047989_2088712)del1000
-
-
TSC2_003476
~1kb intragenic deletion; cDNA probe E0.7
PubMed: European TSC consortium, 1993
-
-
Germline
-
-
-
-
-
DNA
Southern
Blood
-
TSC
5773
PubMed: European TSC consortium, 1993
affected parent also had intragenic deletion
?
-
-
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del1000
g.(2047989_2088712)del1000
-
-
TSC2_003476
~1kb intragenic deletion
PubMed: Jones, 1997
-
-
De novo
-
-
-
-
-
DNA
PFGE, Southern
Blood
-
TSC
-
PubMed: Jones, 1997
variants absent in both parents
?
-
-
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del1000
g.(2047989_2088712)del1000
1kb deletion
-
TSC2_003476
deletion 1kb found using cDNA probe 4.9E0.7
PubMed: European TSC consortium, 1993
-
-
Germline
-
-
-
-
-
DNA
Southern
Blood
-
TSC
T1218
PubMed: European TSC consortium, 1993
-
?
-
Netherlands
-
-
-
-
-
2
Rosemary Ekong
+/+
_1_42_
c.(-106_*102)del(1000)
r.0?
p.0?
-
-
Unknown
-
pathogenic (dominant)
g.(2097990_2138713)del(1000)
g.(2047989_2088712)del(1000)
-
-
TSC2_003476
~1kb intragenic deletion
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_42_
c.(-106_*102)del(10000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(10000)
-
-
-
TSC2_004310
~10kb intragenic deletion; variant in more than one affected
PubMed: Jones 1997
-
-
Germline
yes
-
-
-
-
DNA
PFGE, Southern
Blood
-
TSC
-
PubMed: Jones 1997
-
?
?
-
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(10000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(10000)
-
-
-
TSC2_004310
>10kb deletion (cDNA probe 1A1); variant in more than one affected
unpublished
-
-
Germline
yes
-
-
-
-
DNA
Southern
Blood
-
TSC
-
unpublished
-
?
?
Portugal
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(10000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del10000
g.(2047989_2088712)del10000
-
-
TSC2_003530
~10kb intragenic deletion
PubMed: Jones, 1997
-
-
Germline
-
-
-
-
-
DNA
PFGE, Southern
Blood
-
TSC
-
PubMed: Jones, 1997
-
?
-
-
-
-
-
-
-
2
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(10000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del10000
g.(2047989_2088712)del10000
-
-
TSC2_003530
>10kb deletion (cDNA probe 1A1)
originally vd Ouweland
-
-
Germline
-
-
-
-
-
DNA
Southern
Blood
-
TSC
T4793
originally vd Ouweland
-
?
-
Portugal
-
-
-
-
-
2
Rosemary Ekong
+/+
_1_42_
c.(-106_*102)del(10000)
r.0?
p.0?
-
-
Unknown
-
pathogenic (dominant)
g.(2097990_2138713)del(10000)
g.(2047989_2088712)del(10000)
-
-
TSC2_003530
~10kb intragenic deletion
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_42_
c.(-106_*102)del(2500)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(2500)
-
2.5kb
-
TSC2_004313
2.5kb deletion found with cDNA probe 1A1
unpublished
-
-
Germline
?
-
-
-
-
DNA
Southern
Blood
-
TSC
-
unpublished
-
?
?
Poland
-
-
-
-
-
1
Rosemary Ekong
+/.
_1_42_
c.(-106_*102)del(2500)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del2500
g.(2047989_2088712)del2500
2.5kb
-
TSC2_003533
2.5kb deletion found with cDNA probe 1A1
originally vd Ouweland
-
-
Germline
-
-
-
-
-
DNA
Southern
Blood
-
TSC
T3934
originally vd Ouweland
-
?
-
Poland
-
-
-
-
-
1
Rosemary Ekong
+/+
_1_42_
c.(-106_*102)del(2500)
r.0?
p.0?
-
-
Unknown
-
pathogenic (dominant)
g.(2097990_2138713)del(2500)
g.(2047989_2088712)del(2500)
-
-
TSC2_003533
2.5kb deletion
-
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_42_
c.(-106_*102)del(3000)
r.0?
p.0?
-
-
Unknown
-
pathogenic
g.(2097990_2138713)del(3000)
-
-
-
TSC2_004311
~3kb intragenic deletion; cDNA probes used
PubMed: European TSC consortium 1993
-
-
Germline
?
-
-
-
-
DNA
Southern
Blood
-
TSC
-
PubMed: European TSC consortium 1993
parents thought to be unaffected; parental DNA unavailable for testing
?
?
-
-
-
-
-
-
1
Rosemary Ekong