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 = number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8 DNA change: Variation at DNA level. do not use: DNA_reported = variant reported as (e.g. 521delT); listed only when different from 'DNA change' 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) = protein change predicted from DNA (RNA not analysed), p.Arg345Pro = protein change predicted from RNA ATM DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. do not use: DNA remark; links to OMIM and dbSNP (when available), remarks regarding DNA variant described (e.g. not in 200 control chromosomes, germline mosaicism in mother, 345 kb deletion, etc.) Protein_data: Protein_data; enzymatic activity (e.g. 20%), WB (western blot), IHC (immuno-histochemistry), antibody tested indicated by Gene-ID (e.g. WB no SGCA, SGCD patchy, IHC SGCG reduced) Frequency: Frequency of polymorphism reported listed as number of variant alleles/number of control alleles tested, like 5/132. RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Disease: Disease phenotype = phenotype patient(s), as reported in paper/by submitter, unless modified by the curator Phenotype additional: Phenotype, additional features Reference: Reference = report describing phenotype; format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346" Geographic origin: geographic origin of patient; (France) = reported by laboratory in France, origin patient not sure ? (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 Gender: Patient gender Female Male Inher.: 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 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 Cons.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) ? = unknown no = non-consanguineous parents yes = consanguineous parents # Reported: Number of times this case has been reported