Full data view for gene TSC2

The curator’s expert opinion on the classification of a variant, can be found in the
SUMMARY record. Regarding the classification, please note that where there are several
records of the same variant, the classification of that variant may differ depending on the
submitter’s conclusion.

The variants shown are described using the NM_000548.3 transcript reference sequence.

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)
conflicting
association
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
arrayMET = array for methylation analysis
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 = single 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

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

55 entries on 1 page. Showing entries 1 - 55.

Legend

How to query

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
+/.	-	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)	-	TSC2_000053	VKGL data sharing initiative Nederland	-	-	-	CLASSIFICATION record	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	17	c.1831C>T	-	p.Arg611Trp	Hamartin binding domain	-	Unknown	-	NA	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	phosphorylation of S6K T389 significantly higher than wild type TSC2; significant reduction in TSC1 signal hence destabilising	PubMed: Hoogeveen-Westerveld, 2011	-	-	In vitro (cloned)	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	found with TSC1 silent variant c.915G>A	PubMed: Hoogeveen-Westerveld, 2011	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	PubMed: Hoogeveen-Westerveld, 2011	sporadic case; patient has TSC2 missense c.1831C>T and TSC1 silent variant c.915G>A; different from those reported in Sancak, 2005	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	reported as disease-associated variant; found with TSC1 silent variant c.3324C>T; entire TSC1 and TSC2 genes sequenced; TSC MLPA done	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	MLPA, SEQ	Blood	-	TSC	-	unpublished	TS affected with TSC1 silent variant c.3324C>T and TSC2 missense c.1831C>T; both unaffected parents tested for mutation; TSC2 missense c.1831C>T absent in both parents; uncertain if inheritance of TSC1 silent variant c.3324C>T tested for in both parents	F	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	found with TSC1 nonsense c.891T>G	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Amniocytes	-	TSC	-	unpublished	prenatally diagnosed cardiac rhabdomyoma; proband has TSC1 nonsense c.891T>G and TSC2 missense c.1831C>T - both pathogenic variants; no other family member tested	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	C1849T	-	TSC2_000053	-	PubMed: Jones, 1999	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	HD, SSCA	Blood	-	TSC	208	PubMed: Jones, 1999	variant seen in 2 more cases	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	C1849T	-	TSC2_000053	-	PubMed: Jones, 1999	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	HD, SSCA	Blood	-	TSC	98	PubMed: Jones, 1999	3rd case with same variant	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	C1849T	-	TSC2_000053	-	PubMed: Jones, 1999	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	HD, SSCA	Blood	-	TSC	217	PubMed: Jones, 1999	2nd patient with the same variant; variant not seen in parents	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	pathogenicity reported as confirmed; variant reported 6 times in Harvard db	PubMed: Choy, 1999, PubMed: Dabora, 2001	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	CSGE, DHPLC	Blood	-	TSC	ONK571	PubMed: Choy, 1999, PubMed: Dabora, 2001	variant not seen in parents	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	pathogenicity reported as confirmed; variant reported 6 times in Harvard db	PubMed: Choy, 1999, PubMed: Dabora, 2001	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	CSGE, DHPLC	Blood	-	TSC	LR601	PubMed: Choy, 1999, PubMed: Dabora, 2001	another case; change not seen in parents	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	found with TSC2 missense c.1100G>A	PubMed: Ali, 2005	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	TS-23	PubMed: Ali, 2005	patient with two TSC2 missense variants (c.1831C>T and c.1100G>A); TSC2 c.1831C>T not found in parents; inheritance of TSC2 c.1100G>A not indicated	?	-	India	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Maternal (confirmed)	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Rose, 1999, PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA, ASO	Blood	-	TSC	HOU-37/HOU37-03	PubMed: Rose, 1999, PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	germ-line mosaicism in mother; somatic mosaicism absent in lymphocytic DNA; father deceased; pathogenicity confirmed in vitro	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	TS00-118	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	TS00-358	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	2nd case	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	TS94-012	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	3rd case	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	TS94-097	PubMed: Au, 2007, PubMed: Nellist, 2005, PubMed: Nellist, 2001	4th case	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Yamashita, 2000	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	15	PubMed: Yamashita, 2000	variant not found in parents; patient has TSC1 variant c.1731G>C also found in healthy parent	?	-	Japan	Japanese	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	1849C>T	-	TSC2_000053	-	PubMed: Sancak, 2005	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	T8340	PubMed: Sancak, 2005	2 cases; both diagnosed with definite TSC	?	-	Netherlands	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	1849C>T	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	-	unpublished	index diagnosed with definite TSC	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	1849C>T	-	TSC2_000053	-	PubMed: Langkau, 2002	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SSCA	Blood	-	TSC	T2324D1	PubMed: Langkau, 2002	-	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	1849C>T	-	TSC2_000053	reported as origin unknown; also in Cardiff_Rotterdam TS database	PubMed: Wilson, 1996	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA, RNA	SSCA	Blood	-	TSC	TSC-382	PubMed: Wilson, 1996	-	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	Reported to cause TSC due to major conformational changes to the gene product tuberin. (Nellist et al Euro J. Hum Genet. 2005 (13):59-68)	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	Tuberous Sclerosis clinically	M	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Paternal (confirmed)	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	one parent also affected and variant found at low level (somatic mosaic); sibling tested and variant not found	M	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: You, 2013	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	5	PubMed: You, 2013	20yr old patient; TSC reported as confirmed by diagnostic criteria and histopathological findings	M	-	China	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	found with TSC2 intronic variant c.2546-31G>A	PubMed: Sancak, 2005	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	PubMed: Sancak, 2005	patient has TSC2 intronic variant c.2546-31G>A and TSC2 missense c.1831C>T	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	found with TSC2 silent variant c.4983C>T and TSC2 intronic variant c.5069-47_5069-13dup	PubMed: Hoogeveen-Westerveld, 2011	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	PubMed: Hoogeveen-Westerveld, 2011	patient with TSC2 missense c.1831C>T, TSC2 silent variant c.4983C>T and TSC2 intronic variant c.5069-47_5069-13dup; different case from Sancak, 2005 and the other Hoogeveen-Westerveld, 2011 entry	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: van Eeghen, 2012	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	PubMed: van Eeghen, 2012	5 different patients; all also have other epilepsy types and other TS features (not described as paper is focused on epilepsy)	?	-	-	-	-	-	-	-	5	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	variant confirmed by restiction digest of patient's DNA with Msp1 which eliminates the re-site; TSC1 & TSC2 screened	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	one parent has adult onset epilepsy and has not been tested; sibling without clinical TS was tested by RFLP with Msp1 digestion of exon 17 DNA and variant not found; referred for diagnostic TS testing	M	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	both parents reported as healthy and have no visible signs of TS but they have not been formally investigated; both parents tested and variant not found; gonadal mosaicism in one parent as all 3 children (2 affected and one child not yet assessed) have the variant; referred for ?TS	M	-	-	-	-	-	-	-	3	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	reported as disease-associated variant; found with TSC2 intronic variant c.4006-8C>T; entire TSC1 and TSC2 genes sequenced; deletion test not done	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	TS affected with TSC2 missence c.1831C>T and TSC2 intronic variant c.4006-8C>T	M	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	1849C>T	-	TSC2_000053	-	PubMed: Roberts, 2004	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Blood	-	TSC	SN	PubMed: Roberts, 2004	family with possible gonadal mosaicism as two half siblings have TS; one parent suspected of being a mosaic; the one parent available for testing was considered unaffected and variant not seen in leukocyte DNA; mosaicism above the level of 1% not detected in patient or parents	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Kwiatkowski, 2015	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	PubMed: Kwiatkowski, 2015	2 different patients have TSC with AML	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	2 patients reported in 2 generations, but no indication if both tested	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	1 affected in 1 generation; parents tested and variant not found	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	1 affected in 1 generation; parents tested and variant not found	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	1 affected in 1 generation; parents tested and variant not found	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	1 affected in 1 generation; parents tested and variant not found	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Paternal (confirmed)	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	2 patients in 2 generations (parent and child); proband (child) inherited variant from the affected parent who is reported to be a mosaic; affected parent is described as having typical TS signs (not specified) that fulfil diagnostic TS criteria; variant reported to cosegregate with TSC; number of unaffecteds tested not indicated	?	-	-	-	-	-	-	-	2	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Blood	-	TSC	-	unpublished	No other family member tested	M	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Blood	-	TSC	-	unpublished	no other family member tested	M	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Blood	-	TSC	-	unpublished	variant is absent in both parents and 2 siblings tested	F	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	AlwNI+, MspI-	-	-	DNA	DHPLC, SEQ	Blood	-	TSC	-	unpublished	prenatally diagnosed cardiac rhabdomyoma; both parents tested negative for the variant	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	c.1831C>T; pR611W	-	TSC2_000053	variant at 1.2% MAF; NGS read depth >500x	PubMed: Tyburczy, 2015; PubMed: Giannikou, 2019	-	-	De novo	-	1.2% of cells have the variant	AlwNI+, MspI-	-	-	DNA	SEQ-NG-I	Saliva	amplicon NGS	TSC	P31	PubMed: Tyburczy, 2015	18 year old TSC patient with NMI status (previous Sanger SEQ and TSC2 MLPA negative); reported as mosaic (1.2% MAF); no FH of TS; both parents tested and variant not found	F	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	Germline	-	-	AlwNI+, MspI-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	patient with clinical diagnosis of TS	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	unpublished	-	-	De novo	-	-	-	-	-	DNA	SEQ	Blood	-	TSC	-	unpublished	both parents tested and variant absent	?	-	-	-	-	-	-	-	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Maternal (confirmed)	ACMG	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Ding, 2020	-	-	Germline	-	-	-	-	-	DNA	SEQ	-	-	TSC	58	PubMed: Ding, 2020	-	F	-	China	-	-	-	-	-	1	Yifeng Ding
+/.	-	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Parent #1	-	pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	25 heterozygous, no homozygous; Clinindb (India)	PubMed: Narang 2020, Journal: Narang 2020	-	rs45469298	Germline	-	25/2795 individuals	-	-	-	DNA	arraySNP	-	Infinium Global Screening Array v1.0	?	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	25	Mohammed Faruq
+?/.	-	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	ACMG	likely pathogenic	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	ACMG grading: PS3,PM2,PP3,PP5	-	-	rs45469298	Germline	-	-	-	-	-	DNA	SEQ-NG-S	-	-	TSC	-	-	-	M	-	-	-	-	-	-	-	1	Andreas Laner
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	-	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	variant at 13% MAF; found with TSC2 frameshift c.2638_2641del in SEGA; somatic variants in other genes found (not specified)	PubMed: Giannikou, 2020	-	-	Somatic	?	-	-	-	-	DNA	SEQ-NG-I	Brain	whole exome analysis of Subependymal giant cell astrocytomas, median coverage = 42x	TSC	SEGA-S10	PubMed: Giannikou, 2020	patient had seizures 2-3 times per 6 months prior to surgery at 23y; also had treatment prior to surgery	M	?	-	-	-	-	-	antiepileptic	1	Rosemary Ekong
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	ACMG	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	exon 16	-	TSC2_000053	-	PubMed: Ogorek, 2020	-	-	Germline	?	-	-	-	-	DNA	SEQ-NG-I	Blood	Targeted massive parallel sequencing, mean target coverage of 327× to 1614× (median 716×)	TSC	01-031	PubMed: Ogorek, 2020	infant with drug resistant epilepsy; no history of TSC in the family; patient had first subclinical/clinical seizures at day 19 during the study	F	?	-	-	-	-	-	-	1	Rosemary Ekong
+/+	17	c.1831C>T	r.(?)	p.(Arg611Trp)	Hamartin binding domain	-	Unknown	-	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	-	-	rs45469298	SUMMARY record	-	-	AlwNI+, MspI-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
+?/.	-	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	ACMG	pathogenic	g.2120571C>T	-	-	-	TSC2_000053	mosaic 3% blood 2% buccal 9% skin	-	-	-	Somatic	-	-	-	-	-	DNA	SEQ-NG	blood, buccal, skin (shagreen patch)	-	TSC	Pt18	-	-	M	no	Australia	-	-	-	-	-	1	Clara Chung
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	ACMG	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Milon 2024; PubMed: Milon 2024	-	-	De novo	-	-	-	-	-	DNA	SEQ, SEQ-NG-IT	Amniocytes	-	TSC	-	PubMed: Milon 2024; PubMed: Milon 2024	no family history of TSC; prenatally diagnosed cardiac rhabdomyoma (≥2); both parents tested negative; pregnancy terminated	-	-	-	-	-	-	-	-	1	Sarah Prestwich
+/.	17	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	ACMG	pathogenic (dominant)	g.2120571C>T	g.2070570C>T	-	-	TSC2_000053	-	PubMed: Milon 2024; PubMed: Milon 2024	-	-	De novo	-	-	-	-	-	DNA	SEQ, SEQ-NG-IT	Fetal blood	-	TSC	-	PubMed: Milon 2024; PubMed: Milon 2024	no family history of TSC; prenatally diagnosed cardiac rhabdomyoma (≥2); both parents tested negative; termination of pregnancy at 27+5	-	-	-	-	-	-	-	-	1	Sarah Prestwich
+/.	-	c.1831C>T	r.(?)	p.(Arg611Trp)	-	-	Unknown	-	pathogenic	g.2120571C>T	-	TSC2(NM_000548.3):c.1831C>T (p.R611W), TSC2(NM_000548.5):c.1831C>T (p.R611W)	-	TSC2_000053	VKGL data sharing initiative Nederland	-	-	-	CLASSIFICATION record	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-

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Assessment of functional consequences - Our conclusions on the functional consequences of variants are based on the type of variant, results of in vitro functional tests (doi: 10.1002/humu.21451; doi: 10.1002/humu.22202; doi: 10.1002/humu.23963), population frequencies, output from in silico splice site prediction algorithms, and any clinical/family data available to us. We also have output from protein prediction programs in this database for comparison purposes and they are not considered in our assessment of pathogenicity. PolyPhen Predictions - Note that these results are from PolyPhen-2 and only the HumDiv classification is shown.

Global Variome shared LOVD

TSC2 (tuberous sclerosis 2)