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 affecting function (pathogenicity), in the format Reported/Curator concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = intron 8 to exon 9 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 Var_pub_as: Var_pub_as = 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, r.stab = RNA stability affected (no altered splice product detected) Protein change: Protein change = description of variant at protein level (HGVS recommendations); p.Arg345Pro = RNA-predicted protein change, p.(Arg345Pro) = DNA-predicted protein change (RNA not analysed), p.(del) = DNA predicted in-frame deletion in protein (RNA not analysed), p.(fsX) = DNA-predicted frame shifting deletion in protein (RNA not analysed), p.(?) = protein change unknown MYPN DB-ID: DB-ID = database ID of variant starting with the HGNC gene symbol, followed by an underscore (_) and the ID number, e.g. DMD_01234 Variant remarks: Variant remarks = remarks regarding variant described, e.g. not in 100 control chromosomes, 345 kb deletion, muscle RNA analysed, germline mosaicism in mother, etc. Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) unknown germline (inherited) somatic de novo uniparental disomy uniparental disomy, maternal allele uniparental disomy, paternal allele in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID1:2} (where 1 = PubMedID, 2 = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: this in not to give the reference to another report describing this variant. 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 NGS indicate in the Remarks-column the number of reads (e.g. 47/96 reads, 123/123 reads) shwoing the variant and by selecting another Technique whether or not it was confirmed using another method. ? = 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 MS = mass spectrometry Northern = Northern blotting PAGE = Poly-Acrylamide Gel-Electrophoresis PCR = Polymerase Chain Reaction PCRdig = PCR + restriction enzyme digestion PCRlr = PCR, long-range PCRm = PCR, multiplex PCRq = PCR, quantitative PFGE = Pulsed-Field Gel-Electrophoresis (+Southern) PTT = Protein Truncation Test RT-PCR = Reverse Transcription and PCR SBE = Single Base Extension SEQ = SEQuencing SEQ-NG = next-generation 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 = frequency in which variant was found; 5/76 = in 5 of 76 chromosomes tested, 0.05 = in 5% of chromosomes tested (NOTE: prefered format is 5/76) RE-site: RE-site = restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+, BamHI- Phenotype: phenotype of the individual, as reported originally (i.e. not the concluded phenotype after performing a DNA analysis) Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient; format {PMID1:2} (where 1 = PubMedID, 2 = e.g. den Dunnen 2007) Remarks: Remarks = any remarks on the family, e.g. 4-generation family with 6 affecteds and 3 non-penetrant carriers, sister of patient 12366743.Pat2 Geographic origin: Geographic origin = geographic origin of patient; FR = France, (FR) = 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: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male ? = unknown - = not applicable F = female M = male rF = raised as female rM = raised as 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) - = not applicable unknown familial familial, autosomal dominant familial, autosomal recessive familial, X-linked dominant familial, X-linked dominant, male sparing familial, X-linked recessive familial, digenic paternal, Y-linked maternal, mitochondrial isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) - = not applicable ? = unknown no = non-consanguineous parents yes = consanguineous parents Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level; 12x = creatine phosphokinase level 12 times mean normal level, 1537 = creatine phosphokinase level 1536 IU/l Protein data: Protein data; WB (western blot), IHC (immuno-histochemistry), antibody tested indicated by Gene-ID (e.g. WB no SGCA, SGCD reduced, IHC SGCG patchy)