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 protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect 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

ClassClinical: Classification of the variant based on the clinical consequences as published or submitted. NOTE: this classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). Classification should preferably be performed using standardised criteria; e.g. ACMG: 5 (dominant) (= disease associated, dominant inheritance), ACMG: 5 (recessive) (= disease associated, recessive inheritance), pathogenic (dominant), pathogenic (recessive), likely pathogenic (recessive) , VUS (= variant of unknown significance), likely benign (= likely not disease-associated), benign (= not disease-associated), non-disease phenotype, drug response, risk factor, associated with, etc. NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional

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

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.

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
• - = not applicable
• 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)
• ASMM RTQ-PCR = allele-specific methylated multiplex real-time quantitative PCR
• ASO = allele-specific oligo hybridisation
• BESS = Base Excision Sequence Scanning
• CAGE = Cap analysis gene expression
• 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 = microscope (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
• MSREs = Methylation sensitive restriction enzymes
• MS-SeQMA = Methylation-specific Sequence-based quantitative methylation analysis
• Ms-SNuPE = Methylation-sensitive single-nucleotide primer extension
• MyoD = myoD induced differentiation
• Northern = Northern blotting
• OM = optical mapping
• PAGE = Poly-Acrylamide Gel-Electrophoresis
• PCR = Polymerase Chain Reaction
• PCRdig = PCR + restriction enzyme digestion
• 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)
• PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
• PTT = Protein Truncation Test
• QMPSF = Quantitative Multiplex PCR of Short Fluorescent fragments
• 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
• SEQ-ON = next-generation sequencing - Oxford Nanopore
• SEQ-NG = next-generation sequencing
• 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

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:

• ? = unknown
• - = not applicable
• no = non-consanguineous parents
• yes = consanguineous parents

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))
• 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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/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