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: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T DNA_pub: DNA_pub = variant as reported originally (e.g. 521delT); listed only when different from \"Variant/DNA RNA: RNA = 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: 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, p.(?) = protein change unknown Origin: Origin of variant (inheritance) ? (unknown) in vitro familial sporadic sporadic, consanguineous parents sporadic, non-consanguineous parents sporadic, consanguinity parents? de novo, in patient de novo, in patient (maternal allele) de novo, in patient (paternal allele) de novo, in mother de novo, in mother (grandmaternal allele) de novo, in mother (grandpaternal allele) de novo, in father de novo, in father (grandmaternal allele) de novo, in father (grandpaternal allele) Remarks: Remarks = remarks regarding variant described, e.g. karyotype when investigated, not in 100 control chromosomes, 345 kb deletion, muscle RNA analysed, germline mosaicism in mother, etc. IGF2 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 Reference: Reference = report describing variant, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346" Technique: Technique(s) to detect variant(s) arrayCGH = array Comparative Genomic Hybridisation arraySEQ = array resequencing arrayCNV = array Copy Number Variation (SNP array, CNV array) 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 dig-PCR = restriction enzyme digestion of PCR fragment DOVAM = Detection Of Virtually All Mutations (SSCA variant) DSCA = Double-Strand DNA Conformation Analysis EMC = Enzymatic Mismatch Cleavage fSSCA = see SSCAf HD = HeteroDuplex analysis hrMCA = see MCA IHC = Immuno-Histo-Chemistry mPCR = multiplex PCR MAPH = Multiplex Amplifiable Probe Hybridisation MCA = high-resolution Melting Curve Analysis MLPA = Multiplex Ligation-dependent Probe Amplification Northern = Northern blotting PAGE = Poly-Acrylamide Gel-Electrophoresis PCR = Polymerase Chain Reaction PTT = Protein Truncation Test RT-PCR = Reverse Transcription and PCR SEQ = SEQuencing Southern = Southern blotting SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCA, SSCP) SSCAf = fluorescent SSCA (SSCP) TaqMan = TaqMan assay Western = Western Blotting Template: Template = template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA), RNA+DNA = select both DNA and RNA ? = unknown DNA = DNA RNA = RNA (cDNA) RNA+DNA = RNA and DNA protein = protein Freq.: Freq. = frequency in which variant was found; 5/76 = in 5 of 760 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- Reference: Reference = reference describing patient and phenotype (linked to PubMed; e.g. {PMID18349070:Walenkamp 2008} Syndrome: Syndrome = suspected syndrome, when patient was studied first ? = unknown - = healthy (no known disease phenotype) other = other, specify in Phenotype_add dg = delayed growth IGF-1d = IGF-1 deficiency (OMIM608747) IGF-1r = IGF-1 resistance (OMIM270450) GHII = GH insensitivity with immunodeficiency (OMIM245590) LS = Laron syndrome (OMIM262500) SS = short stature, idiopathic, autosomal (OMIM604271) Neurological: Neurological = neurological exam normal/ abnormal (specify) Clinical: Clinical = other complaints or concomitant diseases; e.g. immune deficiency (no/yes, specify) Skeletal dysplasia: Skeletal dysplasia = signs of skeletal dysplasia absent / present (specify) Dysmorphism/Face: Dysmorphism/Face = facial dysmorphism absent / present (specify) Dysmorphism/Other: Dysmorphism/Other = other dysmorphic features absent / present (specify) Phenotype_add.: Phenotype_add. = additional details regarding the phenotype Remarks: Remarks = remaining remarks regarding this patient/family, links to pedigree files and growth curves, etc. Origin/Geographic: Origin/Geographic = geographic origin of patient; e.g. France = found in French patient, (France) = found in France but origin patient not sure ? = unknown 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) 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 Mariana Islands (Northern Mariana Islands) Norway (Norway) Oman (Oman) Pakistan (Pakistan) Palau (Palau) 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) Protein/GH_stim1: Protein/GH_stim1 = GH stimulation test-1, reported as type of test (specify stimulus), GH peak value (in ng/ml), GH peak value (in mU/L); e.g. ITT, 127 ng/ml, 191 mU/l. Standard for GH in assay: 66/217 (1 mg=2IU), 80/505 (1 mg=2.6 IU; 88/624 or 98/574 (1 mg=3 IU)) Protein/GH_stim2: Protein/GH_stim2 = GH stimulation test-2, type of test (specify stimulus), GH peak value (in ng/ml), GH peak value (in mU/L); e.g. GHRH-Arg, 91.9, 80/505 Protein/GHBP: Protein/GHBP = GHBP level reproted as age at measurement (in y), GHBP level (in pmol/l), SDS; e.g. 23y, 23.2pmol/l, -3.6 Protein/IGF1: Protein/IGF1 = IGF1 level reported as age at measurement (in y), basal IGF1 level (in ng/ml), SDS, basal free IFG1 level (in ug/ml), SDS; e.g. 23y, 31ng/ml, -5.3, 0.68, -0.64 Protein/IGFBP3: Protein/IGFBP3 = IGFBP3 level reported as age at measurement (in y), IGFBP3 level (in ug/ml), SDS; e.g. 23y, 1.87ug/ml, 0.1 Protein/ALS: Protein/ALS = ALS level reported as age at measurement (in y), ALS level (in ug/ml), SDS; e.g. 55y, 23ug/ml, -3.3 Protein/Prolactin: Protein/Prolactin = prolactin level reported as age at measurement (in y), prolactin level (in ug/l), SDS; e.g. 23y, 45ug/l, -1.5 Protein/WB: Protein/WB = proteins on Western ligand blot; e.g. IGFBP-1 reduced, IGFBP-2 normal, IGFBP-3 reduced increased #Reported: #Reported = number of times variant allele was found; e.g. 1 (when record is for 1 patient, 7 (when family contains 7 patients), 23 (for 23 of 234 chromosomes)