LOVD - Legend for VWF



Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12.

Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.

NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter.

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown.

Exon: Exon numbering

DNA change: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T

Legacy numbering: Legacy numbering = variant as reported originally (e.g. 521delT); listed only when different from "Variant/DNA"

RNA change: RNA change = description of variant at RNA level, following HGVS recommendations; e.g. r.123c>u, r.? = unknown, r.(?) = RNA not analysed but probably directly transcribed copy of DNA variant, r.spl? = RNA not analysed but variant probably affects splicing

Protein change: Protein change = description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect)

VWF DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

Variant remarks: Variant remarks

Genetic_origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences
  • unknown
  • germline (inherited)
  • somatic
  • de novo
  • uniparental disomy
  • uniparental disomy, maternal allele
  • uniparental disomy, paternal allele
  • in vitro (cloned)

Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?)
  • ? = unknown
  • - = not applicable
  • yes = segregates with phenotype
  • no = does not segregate with phenotype

Reference: Reference = report describing variant; format {PMID[1]:[2]} (where [1] = PubMedID like 12345678, [2] = e.g. den Dunnen 2007), {dbSNP[3]} ([3] = rs number like 12345), {OMIM[4]:[5]} ([4] = OMIM gene-ID like 120436, [5] variant number in OMIM record like 0003) or "den Dunnen ASHG2003 P2346"

Template: Template = template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA), RNA+DNA = select both DNA and RNA
  • DNA = DNA
  • RNA = RNA (cDNA)
  • protein = protein
  • ? = unknown

Technique: Technique = technique(s) used to identify the sequence variants; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads (e.g. 47/96 reads, 123/123 reads) showing the variant, select another Technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ).
  • ? = unknown
  • 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)
  • BESS = Base Excision Sequence Scanning
  • CMC = Chemical Mismatch Cleavage
  • CSCE = Conformation Sensitive Capillary 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
  • EMC = Enzymatic Mismatch Cleavage
  • HD = HeteroDuplex analysis
  • IHC = Immuno-Histo-Chemistry
  • MAPH = Multiplex Amplifiable Probe Hybridisation
  • MCA = high-resolution Melting Curve Analysis (hrMCA)
  • MLPA = Multiplex Ligation-dependent Probe Amplification
  • Northern = Northern blotting
  • PAGE = Poly-Acrylamide Gel-Electrophoresis
  • PCR = Polymerase Chain Reaction
  • PCRdig = PCR + restriction enzyme digestion
  • PCRlr = PCR, long-range
  • PCRm = PCR, multiplex
  • PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
  • PTT = Protein Truncation Test
  • RT-PCR = Reverse Transcription and PCR
  • SBE = Single Base Extension
  • SEQ = SEQuencing
  • SEQ-NG-H = next-generation sequencing - Helicos
  • SEQ-NG-I = next-generation sequencing - Illumina/Solexa
  • SEQ-NG-R = next-generation sequencing - Roche/454
  • SEQ-NG-S = next-generation sequencing - SOLiD
  • Southern = Southern blotting
  • SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
  • SSCAf = fluorescent SSCA (SSCP)
  • TaqMan = TaqMan assay
  • Western = Western Blotting

Frequency: Frequency = for controls, number of variant chromosomes / number of chromosomes tested; for patients, number of families with variant / number of families tested (like 5/132

Geographic origin: Geographic origin of patient
  • ? (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)
  • 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)
  • 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, 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)
  • 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 Antilles
  • (Netherlands Antilles)
  • (Netherlands)
  • 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 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)
  • 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)
  • Senegal
  • (Senegal)
  • 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
  • (St. Helena)
  • St. Pierre and Miquelon
  • (St. Pierre and Miquelon)
  • Sudan
  • (Sudan)
  • 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))
  • Wallis and Futuna Islands
  • (Wallis and Futuna Islands)
  • Western Sahara
  • (Western Sahara)
  • Yemen
  • (Yemen)
  • Yugoslavia
  • (Yugoslavia)
  • Zaire
  • (Zaire)
  • Zambia
  • (Zambia)
  • Zimbabwe
  • (Zimbabwe)

Functional studies: Functional studies

Ethnic origin: Ethnic origin of patient

VWD type: VWD type
  • type 1
  • type 2A
  • type 2B
  • type 2M
  • type 2N
  • type 3
  • unclassified
  • - (not relevant)

dbSNP: dbSNP = ID variant in dbSNP

VWF:Ag: VWF:Ag (in IU/dL) (to nearest integer)

VWF:Rco: VWF:RCo (in IU/dL) (to nearest integer)

VWF:CB: VWF:CB (in IU/dL) (to nearest integer)

FVIII:C: FVIII:C (in IU/dL) (to nearest integer)

FIX:Ag: FIX:Ag (in IU/dL) (to nearest integer)

FIX:C: FIX:C (in IU/dL) (to nearest integer)

FVII:Ag: FVII:Ag (in IU/dL) (to the nearest integer)

FVII:C: FVII:C (in IU/dL) (to the nearest integer)

BS: BS (to nearest integer)

Multimer profile - low res: Multimer profile, low resolution
  • ? (unknown)
  • Normal
  • Ultra-large
  • Relative decrease in HMW
  • Absent HMW
  • Absent
  • Increased dimer

Multimer profile - high res: Multimer profile, high resolution
  • ? (unknown)
  • Normal satellite bands
  • Enhanced satellite bands
  • Reduced/absent satellite bands
  • Diffuse satellite bands
  • Aberrant mobility

Disease: Disease = disease phenotype as reported in paper/by submitter

Diagnostic enzyme: Diagnostic enzyme

Tissue factor type: Tissue factor type

Phenotype/Additional: Phenotype/Additional

Affecteds/Ind-Fam: Affecteds/Ind-Fam = number of affecteds per family

# Reported: Number of times this case has been reported

Gender: Patient gender
  • Female
  • Male

Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic)
  • unknown
  • isolated (sporadic)
  • familial
  • familial, autosomal dominant
  • familial, autosomal recessive
  • familial, X-linked dominant
  • familial, X-linked dominant, male sparing
  • familial, X-linked recessive
  • paternal, Y-linked
  • maternal, mitochondrial

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
  • ? = unknown
  • - = not applicable
  • no = non-consanguineous parents
  • yes = consanguineous parents

Geographic origin: Geographic origin of patient
  • ? (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)
  • 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)
  • 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, 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)
  • 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 Antilles
  • (Netherlands Antilles)
  • (Netherlands)
  • 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 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)
  • 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)
  • Senegal
  • (Senegal)
  • 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
  • (St. Helena)
  • St. Pierre and Miquelon
  • (St. Pierre and Miquelon)
  • Sudan
  • (Sudan)
  • 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))
  • Wallis and Futuna Islands
  • (Wallis and Futuna Islands)
  • Western Sahara
  • (Western Sahara)
  • Yemen
  • (Yemen)
  • Yugoslavia
  • (Yugoslavia)
  • Zaire
  • (Zaire)
  • Zambia
  • (Zambia)
  • Zimbabwe
  • (Zimbabwe)

Ethnic origin: Ethnic origin of the patient

Submitter: Reference = report describing the patient/family; format {PMID[1]:[2]} (where [1] = PubMedID like 12345678, [2] = e.g. den Dunnen 2007), {dbSNP[3]} ([3] = rs number like 12345), {OMIM[4]:[5]} ([4] = OMIM gene-ID like 120436, [5] variant number in OMIM record like 0003) or "den Dunnen ASHG2003 P2346"