### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYCN) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MYCN" "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)" "2" "p24.3" "unknown" "NC_000002.11" "UD_132118215148" "" "https://www.LOVD.nl/MYCN" "" "1" "7559" "4613" "164840" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/MYCN_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2026-03-24 17:28:06" "00006" "2026-03-25 21:47:41" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000127" "MYCN" "v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)" "001" "NM_005378.4" "" "NP_005369.2" "" "" "" "-300" "2305" "1395" "16080683" "16087129" "00002" "2012-05-11 13:12:11" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00870" "FGLDS1" "Feingold syndrome, type 1" "AD" "164280" "" "esophageal atresias, duodenal atresias, microcephaly, learning disability, syndactyly, cardiac defect" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-24 18:51:07" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07247" "MPAPA" "megalencephaly-polydactyly syndrome" "AD" "620748" "" "" "" "00006" "2026-03-24 17:31:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MYCN" "00139" "MYCN" "00870" "MYCN" "07247" ## Individuals ## Do not remove or alter this header ## ## Count = 94 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050716" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00386956" "" "" "" "5" "" "02373" "{PMID:Klaniewska 2021:34926353}," "3-generation family, 5 affected (2 brothers/sister/mother/maternal grandfather)" "F;M" "" "Poland" "" "0" "" "" "" "family" "00474699" "" "" "" "1" "" "01164" "" "" "M" "no" "Lebanon" "" "0" "" "" "" "367091" "00474700" "" "" "" "5" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "3-generation family, 5 affected (2F, 3M)" "" "" "Netherlands" "" "0" "" "" "" "Fam" "00474701" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474702" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474703" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474704" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474705" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474706" "" "" "" "11" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "3-generation family, 11 affected (7F, 4M)" "" "" "" "" "0" "" "" "" "" "00474707" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474708" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474709" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474710" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474711" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474712" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474713" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474714" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474715" "" "" "" "1" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "" "00474716" "" "" "" "5" "" "00006" "{PMID:Van Bokhoven 2005:15821734}" "patient" "" "" "" "" "0" "" "" "" "patient" "00474717" "" "" "" "3" "" "00006" "{PMID:Teszas 2006:16906565}" "3-generation family, 11 affected (7F, 4M)" "M" "" "Hungary" "" "0" "" "" "" "" "00474718" "" "" "00474717" "1" "" "00006" "{PMID:Teszas 2006:16906565}" "mother" "F" "" "Hungary" "" "0" "" "" "" "" "00474719" "" "" "00474717" "1" "" "00006" "{PMID:Teszas 2006:16906565}" "maternal grandmother" "F" "" "Hungary" "" "0" "" "" "" "" "00474720" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474721" "" "" "" "2" "" "00006" "{PMID:Marcelis 2008:18470948}" "family, affected son/mother" "F;M" "" "" "" "0" "" "" "" "family" "00474722" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "family" "" "" "" "" "0" "" "" "" "" "00474723" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474724" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474725" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474726" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474727" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474728" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474729" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474730" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474731" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474732" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474733" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474734" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474735" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474736" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474737" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474738" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474739" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474740" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474741" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474742" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474743" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474744" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474745" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474746" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474747" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474748" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00474749" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474750" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474751" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474752" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474753" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474754" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474755" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474756" "" "" "" "1" "" "00006" "{PMID:Marcelis 2008:18470948}" "" "" "" "" "" "0" "" "" "" "" "00474759" "" "" "" "1" "" "00006" "{PMID:Blaumeister 2008:18671284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Belgium" "" "0" "" "" "Turkey" "Pat1" "00474760" "" "" "" "5" "" "00006" "{PMID:Blaumeister 2008:18671284}" "3-generation family, 5 affected (3F, 2M)" "F;M" "no" "Belgium" "" "0" "" "" "" "family" "00474761" "" "" "" "1" "" "00006" "{PMID:Kato 2019:30573562}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "patient" "00474762" "" "" "" "1" "" "00006" "{PMID:Nishio 2023:37710961}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Japan" "" "0" "" "" "" "Pat2" "00474763" "" "" "" "1" "" "00006" "{PMID:Nishio 2023:37710961}" "2-generation family, affected fetus" "" "no" "France" "" "0" "" "" "" "Pat1" "00474764" "" "" "" "2" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, affected son/father" "M" "" "Italy" "" "0" "" "" "" "Fam1PatIII1" "00474765" "" "" "00474764" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "father" "M" "" "Italy" "" "0" "" "" "" "Fam1PatII1" "00474766" "" "" "" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, 1 affected" "F" "" "Italy" "" "0" "" "" "" "Fam2PatII1" "00474767" "" "" "" "3" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, 3 affected (daughter/mother/grandmother" "F" "" "Italy" "" "0" "" "" "" "Fam3PatIII1" "00474768" "" "" "00474767" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "mother" "F" "" "Italy" "" "0" "" "" "" "Fam3PatII1" "00474769" "" "" "00474767" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "maternal grandmother" "F" "" "Italy" "" "0" "" "" "" "Fam3PatI1" "00474770" "" "" "" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, 1 affected" "F" "" "Italy" "" "0" "" "" "" "Fam4PatII1" "00474771" "" "" "" "3" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, affected boy/sister/mother" "M" "" "Italy" "" "0" "" "" "" "Fam5PatIII1" "00474772" "" "" "00474771" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "sister" "F" "" "Italy" "" "0" "" "" "" "Fam5PatIII2" "00474773" "" "" "00474771" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "mother" "F" "" "Italy" "" "0" "" "" "" "Fam5PatII1" "00474774" "" "" "" "1" "" "00006" "{PMID:Tedesco 2021:33442900}" "2-generation family, 1 affected, unaffected parents" "M" "" "Italy" "" "0" "" "" "" "Fam6PatII1" "00474775" "" "" "" "1" "" "00006" "{PMID:Zeka 2022:35620261}" "2-generation family, 1 affected, unaffected parents" "F" "" "Kosovo" "" "0" "" "" "" "patient" "00474776" "" "" "" "1" "" "00006" "{PMID:Galarreta 2020:32250545}" "" "" "" "United States" "" "0" "" "" "" "patient" "00474778" "" "" "" "5" "" "00006" "{PMID:Peleg 2021:32925198}" "3-generation family, 2 affected sisters (grandmothers)" "F" "" "Israel" "" "0" "" "" "" "FamPatI2" "00474779" "" "" "00474778" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "sister" "F" "" "Israel" "" "0" "" "" "" "FamPatI4" "00474780" "" "" "00474778" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "daughter" "F" "" "Israel" "" "0" "" "" "" "FamPatII2" "00474781" "" "" "00474778" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "grandchild" "F" "" "Israel" "" "0" "" "" "" "FamPatIII1" "00474782" "" "" "00474778" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "grandchild" "F" "" "Israel" "" "0" "" "" "" "FamPatIII2" "00474783" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, no family history" "F" "" "France" "" "0" "" "" "" "AO2" "00474784" "" "" "" "2" "" "00006" "{PMID:Peleg 2021:32925198}" "2-generation family, affected daughter/father" "F" "" "France" "" "0" "" "" "" "AO28" "00474785" "" "" "00474784" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "father" "M" "" "France" "" "0" "" "" "" "AO28f" "00474786" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, no family history" "M" "" "France" "" "0" "" "" "" "AO37" "00474787" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, no family history" "M" "" "France" "" "0" "" "" "" "A056" "00474788" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, family history" "F" "" "France" "" "0" "" "" "" "A060" "00474789" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, no family history" "M" "" "France" "" "0" "" "" "" "A065" "00474790" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, family history" "F" "" "France" "" "0" "" "" "" "A067" "00474791" "" "" "" "1" "" "00006" "{PMID:Peleg 2021:32925198}" "patient, no family history" "M" "" "France" "" "0" "" "" "" "A068" "00474792" "" "" "" "1" "" "00006" "{PMID:Muirhead 2021:34737199}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "white" "patient" "00474793" "" "" "" "1" "" "00006" "{PMID:Lehman 2009:19921653}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 94 "{{individualid}}" "{{diseaseid}}" "00050716" "00198" "00386956" "00870" "00474699" "00870" "00474700" "00198" "00474701" "00198" "00474702" "00198" "00474703" "00198" "00474704" "00198" "00474705" "00198" "00474706" "00198" "00474707" "00198" "00474708" "00198" "00474709" "00198" "00474710" "00198" "00474711" "00198" "00474712" "00198" "00474713" "00198" "00474714" "00198" "00474715" "00198" "00474716" "00198" "00474717" "00198" "00474718" "00198" "00474719" "00198" "00474720" "00198" "00474721" "00198" "00474722" "00198" "00474723" "00198" "00474724" "00198" "00474725" "00198" "00474726" "00198" "00474727" "00198" "00474728" "00198" "00474729" "00198" "00474730" "00198" "00474731" "00198" "00474732" "00198" "00474733" "00198" "00474734" "00198" "00474735" "00198" "00474736" "00198" "00474737" "00198" "00474738" "00198" "00474739" "00198" "00474740" "00198" "00474741" "00198" "00474742" "00198" "00474743" "00198" "00474744" "00198" "00474745" "00198" "00474746" "00198" "00474747" "00198" "00474748" "00198" "00474749" "00198" "00474750" "00198" "00474751" "00198" "00474752" "00198" "00474753" "00198" "00474754" "00198" "00474755" "00198" "00474756" "00198" "00474759" "00198" "00474760" "00198" "00474761" "00198" "00474762" "05611" "00474763" "00198" "00474764" "05611" "00474765" "05611" "00474766" "05611" "00474767" "05611" "00474768" "05611" "00474769" "05611" "00474770" "05611" "00474771" "05611" "00474772" "05611" "00474773" "05611" "00474774" "05611" "00474775" "00198" "00474776" "00198" "00474778" "00198" "00474779" "00198" "00474780" "00198" "00474781" "00198" "00474782" "00198" "00474783" "00198" "00474784" "00198" "00474785" "00198" "00474786" "00198" "00474787" "00198" "00474788" "00198" "00474789" "00198" "00474790" "00198" "00474791" "00198" "00474792" "00198" "00474793" "00870" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00870, 05611, 07247 ## Count = 94 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037328" "00198" "00050716" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, absence seizures, delayed speech and language development, mild conductive hearing impairment, obesity, short tapering fingers, deeply set eye, clinodactyly of the 5th finger, deviation of finger" "" "" "" "" "" "" "" "" "" "" "" "0000280751" "00870" "00386956" "02373" "Familial, autosomal dominant" "" "see paper; ..., variable phenotype (5 affected); esophageal atresia, tracheoesophageal fistula; microcephaly; toe syndactyly; clinodactyly (1/5)" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359492" "00870" "00474699" "01164" "Isolated (sporadic)" "01y" "Delayed speech and language development, Short stature, Microcephaly, Ptosis, Brachydactyly, Toe clinodactyly, Abnormality of the face, Narrow palate, Macrotia" "" "" "" "" "" "" "" "" "" "" "" "0000359493" "00198" "00474700" "00006" "Familial, autosomal dominant" "" "esophageal atresias, duodenal atresias, microcephaly, learning disability, syndactyly, cardiac defect." "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359494" "00198" "00474701" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359495" "00198" "00474702" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359496" "00198" "00474703" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359497" "00198" "00474704" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359498" "00198" "00474705" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359499" "00198" "00474706" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359500" "00198" "00474707" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359501" "00198" "00474708" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359502" "00198" "00474709" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359503" "00198" "00474710" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359504" "00198" "00474711" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359505" "00198" "00474712" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359506" "00198" "00474713" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359507" "00198" "00474714" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359508" "00198" "00474715" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359509" "00198" "00474716" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359510" "00198" "00474717" "00006" "Familial, autosomal dominant" "4y" "see paper; ..., complicated pregnancy (maternal nephropathy); birth weight 3,300g; esophageal atresia (surgically corrected); subependymal hemorrhage; 9m-seizures; 4y-not walking, developmental delay; 4y-length 98cm (10-25th), weight 13.5kg (5th), OFC 4 cm (<-2 SD), microcephaly; scaphocephaly, epicanthal folds, down-slanting palpebral fissures, large ears, bulbous nasal tip, dental malocclusion; clinodactyly fifth finger hands, small distal phalanges thumbs, mild brachydactyly feet, contractures wrist/elbow/ankle/ knee, increased muscle tone" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359511" "00198" "00474718" "00006" "Familial, autosomal dominant" "" "see paper; ..., microcephaly, OFC 49.5cm (<−2SD), fifth finger clinodactyly, partial syndactyly second to third/fourth to fifth toes; spontaneous abortion; chronic nephritis syndrome, renal insufficiency; hypertension; no intellectual disability (IQ97)" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359512" "00198" "00474719" "00006" "Familial, autosomal dominant" "" "see paper; ..., microcephaly, OFC 52cm (<−2SD), fifth finger clinodactyly, partial syndactyly second to third/fourth to fifth toes; spontaneous abortion; no intellectual disability" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359513" "00198" "00474720" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359514" "00198" "00474721" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359515" "00198" "00474722" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359516" "00198" "00474723" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359517" "00198" "00474724" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359518" "00198" "00474725" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359519" "00198" "00474726" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359520" "00198" "00474727" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359521" "00198" "00474728" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359522" "00198" "00474729" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359523" "00198" "00474730" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359524" "00198" "00474731" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359525" "00198" "00474732" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359526" "00198" "00474733" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359527" "00198" "00474734" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359528" "00198" "00474735" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359529" "00198" "00474736" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359530" "00198" "00474737" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359531" "00198" "00474738" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359532" "00198" "00474739" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359533" "00198" "00474740" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359534" "00198" "00474741" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359535" "00198" "00474742" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359536" "00198" "00474743" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359537" "00198" "00474744" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359538" "00198" "00474745" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359539" "00198" "00474746" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359540" "00198" "00474747" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359541" "00198" "00474748" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359542" "00198" "00474749" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359543" "00198" "00474750" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359544" "00198" "00474751" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359545" "00198" "00474752" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359546" "00198" "00474753" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359547" "00198" "00474754" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359548" "00198" "00474755" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359549" "00198" "00474756" "00006" "Familial, autosomal dominant" "" "not specified" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359552" "00198" "00474759" "00006" "Isolated (sporadic)" "04y" "see paper; ..., pregnancy uneventful; birth at term, weight 3,250g (25th-50th), length 48cm (10th-25th), OFC 31cm (<3rd); 4y-developmental delay, speech delay, microcephaly, dysmorphic features (low set ears, epicanthal folds, upslanted palpebral fissures, broad nasal bridge, flat nasal tip, high arched palate, agenesis two upper lateral incisors); short toes, syndactyly toes 4/5, bilateral clinodactyly 5th finger" "" "" "" "" "" "" "" "" "FGLDS1" "developmental delay" "" "0000359553" "00198" "00474760" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "FGLDS1" "" "" "0000359554" "00198" "00474761" "00006" "Isolated (sporadic)" "15y" "see paper; ..., severe intellectual disability, motor delay, postnatal growth retardation, megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, hypoplastic corpus callosum; ventricular septal defect; postaxial polydactyly, no toe syndactyly, no brachymesophalangy; tracheomalacia; no gastrointestinal atresia; 7y-neuroblastome (19y-remission)" "" "" "" "" "" "" "" "" "MPAPA" "neurodevelopmental disorder" "" "0000359555" "05611" "00474762" "00006" "Isolated (sporadic)" "00y08m" "see paper; ..., intellectual disability, motor delay, no postnatal growth retardation, megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, hypoplastic corpus callosum; no cardiac defect; postaxial polydactyly, no toe syndactyly, no brachymesophalangy, no tracheal dysplasia; no gastrointestinal atresia; 3m-neuroblastome (1y7m-remission)" "" "" "" "" "" "" "" "" "MPAPA" "neurodevelopmental disorder" "" "0000359556" "00198" "00474763" "00006" "Isolated (sporadic)" "<00y00m00d" "see paper; ..., aborted fetus; megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, no corpus callosum dysplasia; postaxial polydactyly, no toe syndactyly, no brachymesophalangy, no tracheal dysplasia; no gastrointestinal atresia" "" "" "" "" "" "" "" "" "MPAPA" "" "" "0000359557" "05611" "00474764" "00006" "Familial, autosomal dominant" "3y" "see paper; ..., weight 50th, height 50th, OFC <3th; clinodactyly, dysplasia 5th finger; short palpebral fissures; intellectual disability, speech delay; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359558" "05611" "00474765" "00006" "Unknown" "" "see paper; ..., weight >90th, height 25-50th, OFC <3th; clinodactyly, hypoplastic 5th finger; short palpebral fissures; mild intellectual disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359559" "05611" "00474766" "00006" "Isolated (sporadic)" "8y" "see paper; ..., weight 10th, height 10-25th, OFC <3th; brachymesophalangy particularly 2nd/5th finger; short palpebral fissures; mild intellectual disability, learning disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; bilateral hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359560" "05611" "00474767" "00006" "Familial, autosomal dominant" "15y" "see paper; ..., weight 10-25th, height 10th, OFC <3th; brachymesophalangy, clynodactyly, hypoplasia 5th finger/toe, hallux valgus; no short palpebral fissures; severe intellectual disability; duodenal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; epilepsy" "" "" "" "" "" "" "" "" "FGLDS1;DEE17" "neurodevelopmental disorder" "" "0000359561" "05611" "00474768" "00006" "Familial, autosomal dominant" "41y" "see paper; ..., weight >95th, height 5-10th, OFC 10th; brachymesophalangy, clynodactyly, hypoplasia 5th finger/toe, hallux valgus; no short palpebral fissures; learning disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; febrile seizures infancy" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359562" "05611" "00474769" "00006" "Unknown" "79y" "see paper; ..., weight 90-95th, height <5th, OFC <3th; brachymesophalangy 5th finger, gross abnormalities feet; short palpebral fissures; learning disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359563" "05611" "00474770" "00006" "Isolated (sporadic)" "3,2y" "see paper; ..., weight 10th, height 25-50th, OFC <3th; brachymesophalangy, clinodactyly, syndactyly between 2nd/3rd and 4th/5th toes, hypoplastic thumbs; short palpebral fissures, with epicanthal folds; mild development delay; duodenal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; agenesis corpus callosum; complex febrile seizures" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359564" "05611" "00474771" "00006" "Familial, autosomal dominant" "6,5y" "see paper; ..., weight <3th, height 3th, OFC <3th; hypoplastic thumbs, clynodactyly 5th finger/2nd toe; no short palpebral fissures, epicantal folds; mild intellectual disability; esophageal atresia; interatrial septum defect; horseshoe kidney; no hearing loss; congenital hypothyroidism; scoliosis" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359565" "05611" "00474772" "00006" "Familial, autosomal dominant" "3y" "see paper; ..., weight <3th, height 5th, OFC <3th; hypoplastic thumbs, clynodactyly, shortened phalanx 5th finger bilaterally; no short palpebral fissures, epicantal folds; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359566" "05611" "00474773" "00006" "Unknown" "43y" "see paper; ..., weight 75th, height <3th, OFC <3th; shorted phalanges V fingers, broad great toes; no short palpebral fissures, epicantal folds; no intellectual disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359567" "05611" "00474774" "00006" "Unknown" "3y" "see paper; ..., weight 50th, height -1SD, OFC 3th; brachymesophalangy, clynodactyly between 2nd/fifth fingers, syndactyly 2nd/3rd and 4th/5th toes; no short palpebral fissures; speech delay; esophageal atresia with fistula; no cardiac abnormality; no renal abnormalities; no hearing loss; median cyst neck; mega ciserna magna" "" "" "" "" "" "" "" "" "FGLDS1" "neurodevelopmental disorder" "" "0000359568" "00198" "00474775" "00006" "Isolated (sporadic)" "07y" "see paper; ..., 7y-speech delay; birth at term, weight 3350g, length 44cm, OFC 33cm; digital anomalies (brachymesophalangy second/fifth fingers, clinodactyly bilateral fifth fingers, hypoplastic thumb), syndactyly bilateral toes, microcephaly, coarse facial features, micrognathia, deformed/large ears; severe intellectual disability (IQ<40); MRI brain normal" "" "" "" "" "" "" "" "" "FGLDS1" "speech delay" "" "0000359569" "00198" "00474776" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "FGLDS1" "" "" "0000359571" "00198" "00474778" "00006" "Familial, autosomal dominant" "68y" "see paper; ..., height 145cm (<3th), OFC (<3th); bilateral congenital absence flexor pollicis longus; no syndactyly toes 2-3 and/or 4-5, clinodactyly 5th finger, shortening phalanxes, short palpebral fissures, thumbs hypoplasia, learning disability" "" "" "" "" "" "" "" "" "FGLDS1" "congenital absence flexor pollicis longus" "" "0000359572" "00198" "00474779" "00006" "Familial, autosomal dominant" "64y" "see paper; ..., height 149cm (<3th), OFC (<3th); bilateral congenital absence flexor pollicis longus; syndactyly toes 2-3 and/or 4-5, clinodactyly 5th finger, shortening phalanxes, short palpebral fissures, thumbs hypoplasia, learning disability" "" "" "" "" "" "" "" "" "FGLDS1" "congenital absence flexor pollicis longus" "" "0000359573" "00198" "00474780" "00006" "Familial, autosomal dominant" "36y" "see paper; ..., height 155cm (10th), OFC (<3th); unilateral congenital absence flexor pollicis longus; syndactyly toes 2-3 and/or 4-5, clinodactyly 5th finger, shortening phalanxes, no short palpebral fissures, thumbs hypoplasia, learning disability" "" "" "" "" "" "" "" "" "FGLDS1" "congenital absence flexor pollicis longus" "" "0000359574" "00198" "00474781" "00006" "Familial, autosomal dominant" "8y" "see paper; ..., unilateral congenital absence flexor pollicis longus; syndactyly toes 2-3 and/or 4-5, clinodactyly 5th finger, shortening phalanxes, no short palpebral fissures, thumbs hypoplasia" "" "" "" "" "" "" "" "" "FGLDS1" "congenital absence flexor pollicis longus" "" "0000359575" "00198" "00474782" "00006" "Familial, autosomal dominant" "3y" "see paper; ..., height 82cm (<3th), OFC (<3th); unilateral congenital absence flexor pollicis longus; no syndactyly toes 2-3 and/or 4-5, clinodactyly 5th finger, shortening phalanxes, no short palpebral fissures, thumbs hypoplasia" "" "" "" "" "" "" "" "" "FGLDS1" "congenital absence flexor pollicis longus" "" "0000359576" "00198" "00474783" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 50th; OFC SD-2; postnatal growth retardation SD-2; micorcephaly SD-3; mild intellectual disability; no micrognatia; brachymesophalangy II/V; no toe syndactyly 2/3; toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; renal hypoplasia; atrial septal defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359577" "00198" "00474784" "00006" "Familial, autosomal dominant" "" "see paper; ..., birth weight/length 25th; OFC SD-3; postnatal growth retardation SD-2.5; micorcephaly SD-3; moderate intellectual disability; no micrognatia; brachymesophalangy II/V; toe syndactyly 2/3; toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; no renal hypoplasia; ventricular septal defect; no deafness; asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359578" "00198" "00474785" "00006" "Unknown" "" "see paper; ..., brachymesophalangy second/fifth fingers, syndactyly fourth/fifth toes, microcephaly, mild intellectual disability" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359579" "00198" "00474786" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 25–50th; OFC SD-4; postnatal growth retardation SD-2; micorcephaly SD-4; mild intellectual disability; no micrognatia; brachymesophalangy II/V; no toe syndactyly 2/3; toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359580" "00198" "00474787" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 2550th; OFC SD-3; postnatal growth retardation SD-2; micorcephaly SD-3; mild intellectual disability; no micrognatia; brachymesophalangy II/V; toe syndactyly 2/3; no toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; no renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359581" "00198" "00474788" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 25–50th; OFC SD-2; postnatal growth retardation SD-1; micorcephaly SD-2; mild intellectual disability; no micrognatia; brachymesophalangy II/V; toe syndactyly 2/3; no toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; no renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359582" "00198" "00474789" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 25–50th; OFC SD-4; postnatal growth retardation SD-2; micorcephaly SD-4; moderate intellectual disability; micrognatia; brachymesophalangy II/V; toe syndactyly 2/3; toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; no renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359583" "00198" "00474790" "00006" "Isolated (sporadic)" "" "see paper; ..., birth weight/length 25–50th; OFC SD-3; no postnatal growth retardation; micorcephaly SD-3; mild intellectual disability; micrognatia; brachymesophalangy II/V; toe syndactyly 2/3; toe syndactyly 4/5; oesophageal atresia; no duodenal atresia; no renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359584" "00198" "00474791" "00006" "Unknown" "" "see paper; ..., birth weight/length 25–50th; OFC SD-2; no postnatal growth retardation; micorcephaly SD-2; mild intellectual disability; no micrognatia; brachymesophalangy II/V; no toe syndactyly 2/3; no toe syndactyly 4/5; no oesophageal atresia; no duodenal atresia; no renal hypoplasia; no congenital cardiac defect; no deafness; no asplenia" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" "0000359585" "00198" "00474792" "00006" "Complex" "02y07m" "see paper; ..., birth at term cesarean delivery (breech presentation), microcephaly; delayed dentition, 10m-tooth eruption; concern for craniosynostosis; normal gross motor milestones, normal fine motor milestones; language delay; recurrent otitis media, mild-moderate hearing loss; aggressive behavior, difficulties in communication; 2y6m-MRI brain hypomyelinating leukodystrophy" "" "" "" "" "" "" "" "" "HLD8;FGLDS1;STL1" "" "" "0000359586" "00870" "00474793" "00006" "Isolated (sporadic)" "01y01m" "see paper; ..., microcephaly (10m-OFC <3rd); mild generalized hypotonia; prominent metopic suture, ocular hypotelorism, low set ears, depressed nasal bridge, bilateral clinodactyly fifth fingers, cutaneous syndactyly multiple toes; bronchiolitis, otitis media, atopic dermatitis" "" "" "" "" "" "" "" "" "FGLDS1" "Feingold syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 94 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050661" "00050716" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000388182" "00386956" "1" "02373" "02373" "2021-10-28 13:01:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000476381" "00474699" "1" "01164" "01164" "2026-03-24 14:13:55" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000476382" "00474700" "1" "00006" "00006" "2026-03-24 18:57:44" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000476383" "00474701" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476384" "00474702" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476385" "00474703" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476386" "00474704" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476387" "00474705" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476388" "00474706" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476389" "00474707" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476390" "00474708" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476391" "00474709" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476392" "00474710" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476393" "00474711" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476394" "00474712" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476395" "00474713" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476396" "00474714" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476397" "00474715" "1" "00006" "00006" "2026-03-24 19:03:57" "" "" "SEQ" "DNA" "" "" "0000476398" "00474716" "1" "00006" "00006" "2026-03-24 18:57:44" "" "" "PCR;SEQ;Southern" "DNA" "" "" "0000476399" "00474717" "1" "00006" "00006" "2026-03-24 19:23:04" "" "" "SEQ" "DNA" "" "" "0000476400" "00474718" "1" "00006" "00006" "2026-03-24 19:23:04" "" "" "SEQ" "DNA" "" "" "0000476401" "00474719" "1" "00006" "00006" "2026-03-24 19:23:04" "" "" "SEQ" "DNA" "" "" "0000476402" "00474720" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476403" "00474721" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476404" "00474722" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476405" "00474723" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476406" "00474724" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476407" "00474725" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476408" "00474726" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476409" "00474727" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476410" "00474728" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476411" "00474729" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476412" "00474730" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476413" "00474731" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476414" "00474732" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476415" "00474733" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476416" "00474734" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476417" "00474735" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476418" "00474736" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476419" "00474737" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476420" "00474738" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476421" "00474739" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476422" "00474740" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476423" "00474741" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476424" "00474742" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476425" "00474743" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476426" "00474744" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476427" "00474745" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476428" "00474746" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476429" "00474747" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476430" "00474748" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476431" "00474749" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476432" "00474750" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476433" "00474751" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476434" "00474752" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476435" "00474753" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476436" "00474754" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476437" "00474755" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476438" "00474756" "1" "00006" "00006" "2026-03-24 19:52:51" "" "" "SEQ" "DNA" "" "" "0000476441" "00474759" "1" "00006" "00006" "2026-03-25 09:16:13" "" "" "SEQ" "DNA" "" "" "0000476442" "00474760" "1" "00006" "00006" "2026-03-25 09:21:07" "" "" "SEQ" "DNA" "" "" "0000476443" "00474761" "1" "00006" "00006" "2026-03-25 09:27:42" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476444" "00474762" "1" "00006" "00006" "2026-03-25 09:40:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476445" "00474763" "1" "00006" "00006" "2026-03-25 09:44:47" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476446" "00474764" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476447" "00474765" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476448" "00474766" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "arrayCGH" "DNA" "" "" "0000476449" "00474767" "1" "00006" "00006" "2026-03-25 14:36:19" "00006" "2026-03-25 14:49:05" "arrayCGH;SEQ-NG" "DNA" "" "epilepsy gene panel" "0000476450" "00474768" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "arrayCGH" "DNA" "" "" "0000476451" "00474769" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "arrayCGH" "DNA" "" "" "0000476452" "00474770" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476453" "00474771" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476454" "00474772" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476455" "00474773" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476456" "00474774" "1" "00006" "00006" "2026-03-25 14:36:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476457" "00474775" "1" "00006" "00006" "2026-03-25 14:42:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476458" "00474776" "1" "00006" "00006" "2026-03-25 14:58:41" "" "" "SEQ" "DNA" "" "" "0000476460" "00474778" "1" "00006" "00006" "2026-03-25 15:20:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476461" "00474779" "1" "00006" "00006" "2026-03-25 15:20:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476462" "00474780" "1" "00006" "00006" "2026-03-25 15:20:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476463" "00474781" "1" "00006" "00006" "2026-03-25 15:20:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476464" "00474782" "1" "00006" "00006" "2026-03-25 15:20:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000476465" "00474783" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476466" "00474784" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476467" "00474785" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476468" "00474786" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476469" "00474787" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476470" "00474788" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476471" "00474789" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476472" "00474790" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476473" "00474791" "1" "00006" "00006" "2026-03-25 17:36:07" "" "" "SEQ" "DNA" "" "" "0000476474" "00474792" "1" "00006" "00006" "2026-03-25 19:46:34" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000476475" "00474793" "1" "00006" "00006" "2026-03-25 21:45:54" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{geneid}}" "0000050661" "MYCN" "0000476381" "MYCN" "0000476382" "MYCN" "0000476383" "MYCN" "0000476384" "MYCN" "0000476385" "MYCN" "0000476386" "MYCN" "0000476387" "MYCN" "0000476388" "MYCN" "0000476389" "MYCN" "0000476390" "MYCN" "0000476391" "MYCN" "0000476392" "MYCN" "0000476393" "MYCN" "0000476394" "MYCN" "0000476395" "MYCN" "0000476396" "MYCN" "0000476397" "MYCN" "0000476398" "MYCN" "0000476399" "MYCN" "0000476400" "MYCN" "0000476401" "MYCN" "0000476402" "MYCN" "0000476403" "MYCN" "0000476404" "MYCN" "0000476405" "MYCN" "0000476406" "MYCN" "0000476407" "MYCN" "0000476408" "MYCN" "0000476409" "MYCN" "0000476410" "MYCN" "0000476411" "MYCN" "0000476412" "MYCN" "0000476413" "MYCN" "0000476414" "MYCN" "0000476415" "MYCN" "0000476416" "MYCN" "0000476417" "MYCN" "0000476418" "MYCN" "0000476419" "MYCN" "0000476420" "MYCN" "0000476421" "MYCN" "0000476422" "MYCN" "0000476423" "MYCN" "0000476424" "MYCN" "0000476425" "MYCN" "0000476426" "MYCN" "0000476427" "MYCN" "0000476428" "MYCN" "0000476429" "MYCN" "0000476430" "MYCN" "0000476431" "MYCN" "0000476432" "MYCN" "0000476433" "MYCN" "0000476434" "MYCN" "0000476435" "MYCN" "0000476436" "MYCN" "0000476437" "MYCN" "0000476438" "MYCN" "0000476441" "MYCN" "0000476442" "MYCN" "0000476449" "GNAO1" "0000476458" "MYCN" "0000476465" "MYCN" "0000476466" "MYCN" "0000476467" "MYCN" "0000476468" "MYCN" "0000476469" "MYCN" "0000476470" "MYCN" "0000476471" "MYCN" "0000476472" "MYCN" "0000476473" "MYCN" "0000476475" "MYCN" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 156 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079641" "0" "90" "2" "16085972" "16085972" "subst" "0" "00006" "MYCN_000001" "g.16085972G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.15945850G>A" "" "pathogenic" "" "0000254422" "0" "30" "2" "16082687" "16082687" "subst" "0" "01943" "MYCN_000008" "g.16082687A>G" "" "" "" "MYCN(NM_005378.5):c.501A>G (p.G167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942565A>G" "" "likely benign" "" "0000292391" "0" "50" "2" "16085917" "16085917" "subst" "0.000980671" "01943" "MYCN_000016" "g.16085917C>G" "" "" "" "MYCN(NM_005378.5):c.1093C>G (p.P365A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945795C>G" "" "VUS" "" "0000292392" "0" "30" "2" "16082204" "16082204" "subst" "0.000363351" "01943" "MYCN_000002" "g.16082204G>A" "" "" "" "MYCN(NM_001293233.1):c.292G>A (p.V98I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942082G>A" "" "likely benign" "" "0000292393" "0" "30" "2" "16082393" "16082393" "subst" "0.00238431" "01943" "MYCN_000004" "g.16082393G>A" "" "" "" "MYCN(NM_005378.5):c.207G>A (p.E69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942271G>A" "" "likely benign" "" "0000292394" "0" "30" "2" "16082465" "16082465" "subst" "5.77347E-5" "01943" "MYCN_000006" "g.16082465G>C" "" "" "" "MYCN(NM_005378.4):c.279G>C (p.(Glu93Asp)), MYCN(NM_005378.5):c.279G>C (p.E93D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942343G>C" "" "likely benign" "" "0000292395" "0" "50" "2" "16082637" "16082637" "subst" "0" "01943" "MYCN_000007" "g.16082637G>C" "" "" "" "MYCN(NM_001293228.1):c.451G>C (p.G151R), MYCN(NM_005378.5):c.451G>C (p.G151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942515G>C" "" "VUS" "" "0000292396" "0" "30" "2" "16082844" "16082844" "subst" "0" "01943" "MYCN_000010" "g.16082844G>C" "" "" "" "MYCN(NM_005378.5):c.658G>C (p.A220P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942722G>C" "" "likely benign" "" "0000292397" "0" "30" "2" "16082939" "16082939" "subst" "0.000195201" "01943" "MYCN_000012" "g.16082939C>T" "" "" "" "MYCN(NM_005378.5):c.753C>T (p.A251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942817C>T" "" "likely benign" "" "0000292398" "0" "50" "2" "16085631" "16085633" "del" "0" "01943" "MYCN_000013" "g.16085631_16085633del" "" "" "" "MYCN(NM_005378.5):c.807_809delAGA (p.E271del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945509_15945511del" "" "VUS" "" "0000292399" "0" "30" "2" "16082276" "16082276" "subst" "0.000537963" "01943" "MYCN_000003" "g.16082276G>C" "" "" "" "MYCN(NM_005378.5):c.90G>C (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15942154G>C" "" "likely benign" "" "0000292400" "0" "50" "2" "16085744" "16085744" "subst" "3.24899E-5" "01943" "MYCN_000015" "g.16085744C>T" "" "" "" "MYCN(NM_005378.5):c.920C>T (p.A307V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945622C>T" "" "VUS" "" "0000326869" "0" "50" "2" "16085640" "16085640" "subst" "1.23309E-5" "01804" "MYCN_000014" "g.16085640T>G" "" "" "" "MYCN(NM_005378.4):c.816T>G (p.(Asp272Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945518T>G" "" "VUS" "" "0000326870" "0" "50" "2" "16086095" "16086095" "subst" "0.000121871" "01804" "MYCN_000017" "g.16086095A>G" "" "" "" "MYCN(NM_005378.4):c.1271A>G (p.(Lys424Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945973A>G" "" "VUS" "" "0000342796" "0" "90" "2" "16086001" "16086001" "subst" "0" "02327" "MYCN_000021" "g.16086001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945879C>T" "" "pathogenic" "" "0000342798" "0" "90" "2" "16086002" "16086002" "subst" "0" "02327" "MYCN_000022" "g.16086002G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic" "" "0000342802" "0" "90" "2" "16086005" "16086005" "subst" "0" "02327" "MYCN_000023" "g.16086005G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945883G>A" "" "pathogenic" "" "0000342810" "0" "70" "2" "16086016" "16086016" "subst" "0" "02327" "MYCN_000024" "g.16086016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945894C>T" "" "likely pathogenic" "" "0000345412" "0" "90" "2" "16086106" "16086106" "subst" "0" "02327" "MYCN_000026" "g.16086106G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945984G>T" "" "pathogenic" "" "0000347148" "0" "70" "2" "16086029" "16086029" "subst" "0" "02327" "MYCN_000025" "g.16086029T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15945907T>C" "" "likely pathogenic" "" "0000347174" "0" "70" "2" "16086149" "16086149" "subst" "0" "02327" "MYCN_000027" "g.16086149T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15946027T>C" "" "likely pathogenic" "" "0000350955" "0" "30" "2" "16080769" "16080769" "subst" "0" "02327" "MYCN_000018" "g.16080769G>T" "" "" "" "MYCN(NM_001293231.2):c.61G>T (p.(Ala21Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15940647G>T" "" "likely benign" "" "0000509724" "0" "50" "2" "16080800" "16080800" "subst" "0" "01943" "MYCN_000028" "g.16080800G>C" "" "" "" "MYCN(NM_001293233.1):c.92G>C (p.R31P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15940678G>C" "" "VUS" "" "0000509726" "0" "90" "2" "16082390" "16082391" "del" "0" "02327" "MYCN_000029" "g.16082390_16082391del" "" "" "" "MYCN(NM_001293228.2):c.204_205delGG (p.E69Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942268_15942269del" "" "pathogenic" "" "0000509727" "0" "30" "2" "16082497" "16082497" "subst" "4.88073E-5" "01943" "MYCN_000030" "g.16082497G>A" "" "" "" "MYCN(NM_001293228.1):c.311G>A (p.G104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942375G>A" "" "likely benign" "" "0000509729" "0" "30" "2" "16082685" "16082685" "subst" "0" "01804" "MYCN_000032" "g.16082685G>A" "" "" "" "MYCN(NM_005378.4):c.499G>A (p.(Gly167Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942563G>A" "" "likely benign" "" "0000509731" "0" "30" "2" "16085886" "16085886" "subst" "0.000292785" "01943" "MYCN_000034" "g.16085886G>A" "" "" "" "MYCN(NM_005378.5):c.1062G>A (p.A354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15945764G>A" "" "likely benign" "" "0000606165" "0" "90" "2" "16082320" "16082320" "dup" "0" "02325" "MYCN_000035" "g.16082320dup" "" "" "" "MYCN(NM_001293228.2):c.134dupC (p.E47Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942198dup" "" "pathogenic" "" "0000606166" "0" "30" "2" "16082616" "16082616" "subst" "0" "01943" "MYCN_000036" "g.16082616G>A" "" "" "" "MYCN(NM_001293228.1):c.430G>A (p.G144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942494G>A" "" "likely benign" "" "0000606167" "0" "50" "2" "16085623" "16085623" "subst" "0" "02325" "MYCN_000037" "g.16085623G>T" "" "" "" "MYCN(NM_001293228.2):c.799G>T (p.D267Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15945501G>T" "" "VUS" "" "0000654230" "0" "30" "2" "16080813" "16080813" "subst" "0" "01943" "MYCN_000038" "g.16080813A>C" "" "" "" "MYCN(NM_001293233.1):c.105A>C (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15940691A>C" "" "likely benign" "" "0000654231" "0" "30" "2" "16082297" "16082297" "subst" "6.1284E-5" "01943" "MYCN_000039" "g.16082297C>A" "" "" "" "MYCN(NM_001293228.1):c.111C>A (p.F37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15942175C>A" "" "likely benign" "" "0000654232" "0" "90" "2" "16086004" "16086004" "subst" "0" "02327" "MYCN_000040" "g.16086004C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15945882C>T" "" "pathogenic" "" "0000676054" "0" "30" "2" "16080804" "16080804" "subst" "0" "01943" "MYCN_000041" "g.16080804C>G" "" "" "" "MYCN(NM_001293233.1):c.96C>G (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717907" "0" "50" "2" "16082295" "16082295" "subst" "8.16707E-6" "02325" "MYCN_000042" "g.16082295T>A" "" "" "" "MYCN(NM_005378.6):c.109T>A (p.F37I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717908" "0" "90" "2" "16082390" "16082391" "del" "0" "02329" "MYCN_000029" "g.16082390_16082391del" "" "" "" "MYCN(NM_001293228.2):c.204_205delGG (p.E69Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717909" "0" "90" "2" "16082580" "16082580" "subst" "0" "02329" "MYCN_000031" "g.16082580G>T" "" "" "" "MYCN(NM_001293228.2):c.394G>T (p.E132*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799740" "0" "90" "2" "16085788" "16085788" "subst" "0" "02327" "MYCN_000043" "g.16085788C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799741" "0" "70" "2" "16085996" "16085996" "subst" "0" "01943" "MYCN_000044" "g.16085996G>T" "" "" "" "MYCN(NM_001293228.1):c.1172G>T (p.R391L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799742" "0" "70" "2" "16086143" "16086143" "subst" "0" "02329" "MYCN_000045" "g.16086143T>C" "" "" "" "MYCN(NM_001293228.2):c.1319T>C (p.L440P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000816626" "21" "70" "2" "16082452" "16082452" "dup" "0" "02373" "MYCN_000046" "g.16082452dup" "" "{PMID:Klaniewska 2021:34926353}" "" "hg19 16082448T>TG" "" "Germline" "yes" "" "0" "" "" "g.15942330dup" "" "pathogenic (dominant)" "" "0000848989" "0" "30" "2" "16082899" "16082899" "subst" "0" "01804" "MYCN_000048" "g.16082899G>C" "" "" "" "MYCN(NM_005378.4):c.713G>C (p.(Arg238Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857792" "0" "90" "2" "16082685" "16082685" "subst" "0" "02329" "MYCN_000047" "g.16082685G>T" "" "" "" "MYCN(NM_001293228.2):c.499G>T (p.G167*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857793" "0" "30" "2" "16086191" "16086191" "subst" "0" "01804" "MYCN_000049" "g.16086191A>G" "" "" "" "MYCN(NM_005378.4):c.1367A>G (p.(Lys456Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883809" "0" "30" "2" "16082656" "16082656" "subst" "0" "01804" "MYCN_000050" "g.16082656C>T" "" "" "" "MYCN(NM_005378.4):c.470C>T (p.(Pro157Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923312" "0" "50" "2" "16082721" "16082721" "subst" "0" "02325" "MYCN_000051" "g.16082721C>G" "" "" "" "MYCN(NM_005378.6):c.535C>G (p.L179V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923313" "0" "30" "2" "16082844" "16082844" "subst" "0.000870214" "01804" "MYCN_000052" "g.16082844G>T" "" "" "" "MYCN(NM_005378.4):c.658G>T (p.(Ala220Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947370" "0" "30" "2" "16082163" "16082163" "subst" "0" "01804" "MYCN_000053" "g.16082163A>T" "" "" "" "MYCN(NM_001293228.1):c.-24A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947371" "0" "50" "2" "16085969" "16085969" "subst" "0" "02325" "MYCN_000054" "g.16085969G>A" "" "" "" "MYCN(NM_005378.6):c.1145G>A (p.R382H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974376" "0" "30" "2" "16080769" "16080769" "subst" "0" "01804" "MYCN_000018" "g.16080769G>T" "" "" "" "MYCN(NM_001293231.2):c.61G>T (p.(Ala21Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974377" "0" "50" "2" "16080854" "16080854" "subst" "0" "01804" "MYCN_000055" "g.16080854A>G" "" "" "" "MYCN(NM_001293231.2):c.146A>G (p.(Gln49Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974378" "0" "70" "2" "16085764" "16085764" "subst" "0" "02327" "MYCN_000056" "g.16085764C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991699" "0" "30" "2" "16082413" "16082413" "subst" "0" "01804" "MYCN_000057" "g.16082413G>T" "" "" "" "MYCN(NM_005378.4):c.227G>T (p.(Ser76Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991700" "0" "50" "2" "16082465" "16082465" "subst" "5.77347E-5" "01804" "MYCN_000006" "g.16082465G>C" "" "" "" "MYCN(NM_005378.4):c.279G>C (p.(Glu93Asp)), MYCN(NM_005378.5):c.279G>C (p.E93D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991701" "0" "30" "2" "16082686" "16082686" "subst" "0" "01804" "MYCN_000058" "g.16082686G>A" "" "" "" "MYCN(NM_005378.4):c.500G>A (p.(Gly167Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991702" "0" "30" "2" "16082695" "16082695" "subst" "0" "01804" "MYCN_000059" "g.16082695G>C" "" "" "" "MYCN(NM_005378.4):c.509G>C (p.(Arg170Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991703" "0" "30" "2" "16082703" "16082703" "subst" "0" "01804" "MYCN_000060" "g.16082703G>A" "" "" "" "MYCN(NM_005378.4):c.517G>A (p.(Ala173Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032445" "0" "50" "2" "16080788" "16080788" "subst" "0" "01804" "MYCN_000061" "g.16080788G>C" "" "" "" "MYCN(NM_001293231.2):c.80G>C (p.(Arg27Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032446" "0" "30" "2" "16080806" "16080806" "subst" "0" "01804" "MYCN_000062" "g.16080806C>T" "" "" "" "MYCN(NM_001293231.2):c.98C>T (p.(Pro33Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032447" "0" "50" "2" "16082128" "16082128" "del" "0" "01804" "MYCN_000063" "g.16082128del" "" "" "" "MYCN(NM_001293233.2):c.216del (p.(Gly73Valfs*484))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032448" "0" "30" "2" "16086032" "16086032" "subst" "2.43839E-5" "01804" "MYCN_000064" "g.16086032C>T" "" "" "" "MYCN(NM_005378.6):c.1208C>T (p.(Thr403Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050529" "0" "50" "2" "16081155" "16081155" "del" "0" "01804" "MYCN_000065" "g.16081155del" "" "" "" "MYCN(NM_001293228.2):c.-138del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063350" "0" "70" "2" "16085969" "16085969" "subst" "0" "02325" "MYCN_000066" "g.16085969G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001071204" "0" "70" "2" "16085941" "16085941" "subst" "4.07561E-6" "01164" "MYCN_000067" "g.16085941C>T" "" "" "" "" "PVS1_strong, PS2, PM2_supporting; Detected in at least 3 individuals in de novo constellation and several other individuals with Feingold syndrome; PMID:15821734, 18470948, 33442900, 35620261, 32250545" "De novo" "?" "" "0" "" "" "g.15945819C>T" "" "likely pathogenic (dominant)" "ACMG" "0001071227" "1" "90" "2" "16082069" "16086220" "del" "0" "00006" "MYCN_000068" "g.(16080866_16082069)_(16086220_?)del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "270kb deletion between STS WI-7156 and WI-1988 including MYCN and D2S2355" "Germline" "yes" "" "0" "" "" "g.(15940744_15941947)_(15946098_?)del" "" "pathogenic (dominant)" "" "0001071228" "0" "90" "2" "16085705" "16085706" "dup" "0" "00006" "MYCN_000090" "g.16085705_16085706dup" "" "{PMID:Van Bokhoven 2005:15821734}" "" "882_883insTC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945583_15945584dup" "" "pathogenic (dominant)" "" "0001071229" "0" "90" "2" "16085739" "16085740" "ins" "0" "00006" "MYCN_000091" "g.16085739_16085740insT" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945617_15945618insT" "" "pathogenic (dominant)" "" "0001071230" "0" "90" "2" "16085788" "16085788" "subst" "0" "00006" "MYCN_000043" "g.16085788C>T" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945666C>T" "" "pathogenic (dominant)" "" "0001071231" "0" "90" "2" "16085829" "16085829" "del" "0" "00006" "MYCN_000093" "g.16085829del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "1005delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945707del" "" "pathogenic (dominant)" "" "0001071232" "0" "90" "2" "16085929" "16085930" "dup" "0" "00006" "MYCN_000095" "g.16085929_16085930dup" "" "{PMID:Van Bokhoven 2005:15821734}" "" "1106_1107insAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945807_15945808dup" "" "pathogenic (dominant)" "" "0001071233" "1" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071234" "0" "90" "2" "16086001" "16086001" "subst" "0" "00006" "MYCN_000099" "g.16086001C>A" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945879C>A" "" "pathogenic (dominant)" "" "0001071235" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071236" "0" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071237" "0" "90" "2" "16086031" "16086031" "del" "0" "00006" "MYCN_000100" "g.16086031del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "1207delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945909del" "" "pathogenic (dominant)" "" "0001071238" "0" "90" "2" "16086117" "16086117" "del" "0" "00006" "MYCN_000103" "g.16086117del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "1293delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945995del" "" "pathogenic (dominant)" "" "0001071239" "0" "90" "2" "16086162" "16086162" "del" "0" "00006" "MYCN_000104" "g.16086162del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "1338delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15946040del" "" "pathogenic (dominant)" "" "0001071240" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071241" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071242" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071243" "1" "90" "2" "16082069" "16086220" "del" "0" "00006" "MYCN_000068" "g.(16080866_16082069)_(16086220_?)del" "" "{PMID:Van Bokhoven 2005:15821734}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(15940744_15941947)_(15946098_?)del" "" "pathogenic (dominant)" "" "0001071244" "0" "90" "2" "16082403" "16082403" "subst" "0" "00006" "MYCN_000080" "g.16082403G>T" "" "{PMID:Teszas 2006:16906565}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15942281G>T" "" "pathogenic (dominant)" "" "0001071245" "21" "90" "2" "16082403" "16082403" "subst" "0" "00006" "MYCN_000080" "g.16082403G>T" "" "{PMID:Teszas 2006:16906565}" "" "" "" "Germline" "" "" "0" "" "" "g.15942281G>T" "" "pathogenic (dominant)" "" "0001071246" "21" "90" "2" "16082403" "16082403" "subst" "0" "00006" "MYCN_000080" "g.16082403G>T" "" "{PMID:Teszas 2006:16906565}" "" "" "" "Germline" "" "" "0" "" "" "g.15942281G>T" "" "pathogenic (dominant)" "" "0001071247" "0" "90" "2" "16082320" "16082320" "dup" "0" "00006" "MYCN_000035" "g.16082320dup" "" "{PMID:Marcelis 2008:18470948}" "" "134dupC" "" "De novo" "" "" "0" "" "" "g.15942198dup" "" "pathogenic (dominant)" "" "0001071248" "0" "90" "2" "16082403" "16082403" "subst" "0" "00006" "MYCN_000080" "g.16082403G>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15942281G>T" "" "pathogenic (dominant)" "" "0001071249" "0" "90" "2" "16082417" "16082417" "subst" "0" "00006" "MYCN_000081" "g.16082417G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15942295G>A" "" "pathogenic (dominant)" "" "0001071250" "0" "90" "2" "16082488" "16082488" "del" "0" "00006" "MYCN_000082" "g.16082488del" "" "{PMID:Marcelis 2008:18470948}" "" "302delG" "" "De novo" "" "" "0" "" "" "g.15942366del" "" "pathogenic (dominant)" "" "0001071251" "0" "90" "2" "16082637" "16082637" "subst" "0" "00006" "MYCN_000083" "g.16082637G>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "De novo" "" "" "0" "" "" "g.15942515G>T" "" "pathogenic (dominant)" "" "0001071252" "0" "90" "2" "16082848" "16082848" "subst" "0" "00006" "MYCN_000086" "g.16082848C>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15942726C>A" "" "pathogenic (dominant)" "" "0001071253" "0" "90" "2" "16082869" "16082869" "del" "0" "00006" "MYCN_000087" "g.16082869del" "" "{PMID:Marcelis 2008:18470948}" "" "683delC" "" "De novo" "" "" "0" "" "" "g.15942747del" "" "pathogenic (dominant)" "" "0001071254" "0" "90" "2" "16085660" "16085661" "dup" "0" "00006" "MYCN_000089" "g.16085660_16085661dup" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945538_15945539dup" "" "pathogenic (dominant)" "" "0001071255" "0" "90" "2" "16085705" "16085706" "dup" "0" "00006" "MYCN_000090" "g.16085705_16085706dup" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945583_15945584dup" "" "pathogenic (dominant)" "" "0001071256" "0" "90" "2" "16085739" "16085740" "ins" "0" "00006" "MYCN_000091" "g.16085739_16085740insT" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945617_15945618insT" "" "pathogenic (dominant)" "" "0001071257" "0" "90" "2" "16085788" "16085788" "subst" "0" "00006" "MYCN_000043" "g.16085788C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945666C>T" "" "pathogenic (dominant)" "" "0001071258" "0" "90" "2" "16085788" "16085788" "subst" "0" "00006" "MYCN_000043" "g.16085788C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945666C>T" "" "pathogenic (dominant)" "" "0001071259" "0" "90" "2" "16085829" "16085829" "del" "0" "00006" "MYCN_000093" "g.16085829del" "" "{PMID:Marcelis 2008:18470948}" "" "1005delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945707del" "" "pathogenic (dominant)" "" "0001071260" "0" "90" "2" "16085921" "16085921" "dup" "0" "00006" "MYCN_000094" "g.16085921dup" "" "{PMID:Marcelis 2008:18470948}" "" "1097dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945799dup" "" "pathogenic (dominant)" "" "0001071261" "0" "90" "2" "16085929" "16085930" "dup" "0" "00006" "MYCN_000095" "g.16085929_16085930dup" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945807_15945808dup" "" "pathogenic (dominant)" "" "0001071262" "0" "90" "2" "16085929" "16085930" "dup" "0" "00006" "MYCN_000095" "g.16085929_16085930dup" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945807_15945808dup" "" "pathogenic (dominant)" "" "0001071263" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071264" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071265" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071266" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071267" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071268" "0" "90" "2" "16086001" "16086001" "subst" "0" "00006" "MYCN_000099" "g.16086001C>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945879C>A" "" "pathogenic (dominant)" "" "0001071269" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071270" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071271" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071272" "0" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071273" "0" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071274" "0" "90" "2" "16086031" "16086031" "del" "0" "00006" "MYCN_000100" "g.16086031del" "" "{PMID:Marcelis 2008:18470948}" "" "1207delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945909del" "" "pathogenic (dominant)" "" "0001071275" "0" "90" "2" "16086050" "16086050" "subst" "0" "00006" "MYCN_000101" "g.16086050C>T" "" "{PMID:Marcelis 2008:18470948}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945928C>T" "" "pathogenic (dominant)" "" "0001071276" "0" "90" "2" "16086098" "16086098" "dup" "0" "00006" "MYCN_000102" "g.16086098dup" "" "{PMID:Marcelis 2008:18470948}" "" "1274dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945976dup" "" "pathogenic (dominant)" "" "0001071277" "0" "90" "2" "16086117" "16086117" "del" "0" "00006" "MYCN_000103" "g.16086117del" "" "{PMID:Marcelis 2008:18470948}" "" "1293delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945995del" "" "pathogenic (dominant)" "" "0001071278" "0" "90" "2" "16086162" "16086162" "del" "0" "00006" "MYCN_000104" "g.16086162del" "" "{PMID:Marcelis 2008:18470948}" "" "1338delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15946040del" "" "pathogenic (dominant)" "" "0001071279" "0" "90" "2" "14772809" "16087129" "del" "0" "00006" "MYCN_000072" "g.(12882856_14772809)_(16087129_16730732)del" "" "{PMID:Marcelis 2008:18470948}" "" "del FAM84A_MYCN" "deletion TRIB2/FAM84A and MYCN/FAM49A" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12742730_14632685)_(15947007_16549464)del" "" "pathogenic (dominant)" "" "0001071280" "0" "90" "2" "16076381" "16082977" "del" "0" "00006" "MYCN_000070" "g.(15771235_16076381)_(16082977_16085614)del" "" "{PMID:Marcelis 2008:18470948}" "" "del MYCNOS_MYCN exon2" "0.3Mb deletion, breakpoints between DDX1/MYCNOS and intron 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.(15631111_15936259)_(15942855_15945492)del" "" "pathogenic (dominant)" "" "0001071281" "0" "90" "2" "14772809" "16087129" "del" "0" "00006" "MYCN_000072" "g.(12882856_14772809)_(16087129_16730732)del" "" "{PMID:Marcelis 2008:18470948}" "" "del FAM84A_MYCN" "deletion TRIB2/FAM84A and MYCN/FAM49A" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12742730_14632685)_(15947007_16549464)del" "" "pathogenic (dominant)" "" "0001071282" "0" "90" "2" "14772809" "17963491" "del" "0" "00006" "MYCN_000073" "g.(12882856_14772809)_(17963491_?)del" "" "{PMID:Marcelis 2008:18470948}" "" "del FAM84A_MYCN_FLJ40869" "5.1Mb deletion, TRIB2/FAM84A and MYCN/FLJ40869" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12742730_14632685)_(17823369_?)del" "" "pathogenic (dominant)" "" "0001071283" "0" "90" "2" "16076381" "16087129" "del" "0" "00006" "MYCN_000071" "g.(15771235_16076381)_(16087129_16730732)del" "" "{PMID:Marcelis 2008:18470948}" "" "del MYCNOS_MYCN" "deletion, breakpoints between DDX1/MYCNOS and MYCN/FAM49A" "Germline/De novo (untested)" "" "" "0" "" "" "g.(15631111_15936259)_(15947007_16549464)del" "" "pathogenic (dominant)" "" "0001071284" "11" "30" "2" "16080772" "16080772" "subst" "0" "00006" "MYCN_000069" "g.16080772C>T" "" "{PMID:Marcelis 2008:18470948}" "" "64C>T (Q22X) from ATG at -274" "inherited from unaffected father;" "Germline" "no" "" "0" "" "" "g.15940650C>T" "" "likely benign" "" "0001071288" "0" "90" "2" "16082812" "16082812" "dup" "0" "00006" "MYCN_000074" "g.16082812dup" "" "{PMID:Blaumeister 2008:18671284}" "" "626dupC (A310GfsX58)" "" "De novo" "" "" "0" "" "" "g.15942690dup" "" "pathogenic (dominant)" "" "0001071289" "21" "90" "2" "16085969" "16085969" "subst" "0" "00006" "MYCN_000054" "g.16085969G>A" "" "{PMID:Blaumeister 2008:18671284}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945847G>A" "" "pathogenic (dominant)" "" "0001071290" "0" "90" "2" "16082359" "16082359" "subst" "0" "00006" "MYCN_000075" "g.16082359C>T" "" "{PMID:Kato 2019:30573562}" "" "" "gain of function variant" "De novo" "" "" "0" "" "" "g.15942237C>T" "" "pathogenic (dominant)" "" "0001071292" "0" "90" "2" "16082359" "16082359" "subst" "0" "00006" "MYCN_000075" "g.16082359C>T" "" "{PMID:Nishio 2023:37710961}" "" "" "" "De novo" "" "" "0" "" "" "g.15942237C>T" "" "pathogenic (dominant)" "" "0001071293" "0" "90" "2" "16082365" "16082365" "subst" "0" "00006" "MYCN_000076" "g.16082365C>T" "" "{PMID:Nishio 2023:37710961}" "" "" "gain of function variant" "De novo" "" "" "0" "" "" "g.15942243C>T" "" "pathogenic (dominant)" "" "0001071294" "11" "70" "2" "16082697" "16082737" "del" "0" "00006" "MYCN_000085" "g.16082697_16082737del" "" "{PMID:Tedesco 2021:33442900}" "" "503_543del" "" "Germline" "yes" "" "0" "" "" "g.15942575_15942615del" "VCV000265250.2" "likely pathogenic (dominant)" "" "0001071295" "0" "70" "2" "16082697" "16082737" "del" "0" "00006" "MYCN_000085" "g.16082697_16082737del" "" "{PMID:Tedesco 2021:33442900}" "" "503_543del" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.15942575_15942615del" "" "likely pathogenic (dominant)" "" "0001071296" "0" "90" "2" "16083795" "16088973" "del" "0" "00006" "MYCN_000088" "g.(16082977_16083795)_(16088973_?)del" "" "{PMID:Tedesco 2021:33442900}" "" "arr(hg19) 2p24.3(16,083,795-16,088,973)x1dn]" "5.2 kb deletion exon 3" "De novo" "" "" "0" "" "" "g.(15942855_15943673)_(15948851_?)del" "" "pathogenic (dominant)" "" "0001071297" "21" "90" "2" "15801553" "17033853" "del" "0" "00006" "MYCN_000078" "g.(?_15801553)_(17033853_?)del" "" "{PMID:Tedesco 2021:33442900}" "" "arr(hg19) 2p24.3p24.2(15801553_17033853)x1 mat" "1.23 Mb deletion" "Germline" "yes" "" "0" "" "" "g.(?_15661431)_(16893731_?)del" "" "pathogenic (dominant)" "" "0001071298" "21" "90" "2" "15801553" "17033853" "del" "0" "00006" "MYCN_000078" "g.(?_15801553)_(17033853_?)del" "" "{PMID:Tedesco 2021:33442900}" "" "arr(hg19) 2p24.3p24.2(15801553_17033853)x1 mat" "1.23 Mb deletion" "Germline" "yes" "" "0" "" "" "g.(?_15661431)_(16893731_?)del" "" "pathogenic (dominant)" "" "0001071299" "0" "90" "2" "15801553" "17033853" "del" "0" "00006" "MYCN_000078" "g.(?_15801553)_(17033853_?)del" "" "{PMID:Tedesco 2021:33442900}" "" "arr(hg19) 2p24.3p24.2(15801553_17033853)x1" "1.23 Mb deletion" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.(?_15661431)_(16893731_?)del" "" "pathogenic (dominant)" "" "0001071300" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Tedesco 2021:33442900}" "" "" "" "De novo" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071301" "21" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Tedesco 2021:33442900}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071302" "21" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Tedesco 2021:33442900}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071303" "0" "90" "2" "16086005" "16086005" "subst" "0" "00006" "MYCN_000023" "g.16086005G>A" "" "{PMID:Tedesco 2021:33442900}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.15945883G>A" "" "pathogenic (dominant)" "" "0001071304" "0" "70" "2" "16085992" "16085992" "subst" "0" "00006" "MYCN_000097" "g.16085992G>T" "" "{PMID:Tedesco 2021:33442900}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945870G>T" "" "likely pathogenic (dominant)" "" "0001071305" "0" "70" "2" "16086001" "16086001" "subst" "0" "00006" "MYCN_000021" "g.16086001C>T" "" "{PMID:Zeka 2022:35620261}" "" "" "" "De novo" "" "" "0" "" "" "g.15945879C>T" "" "likely pathogenic (dominant)" "" "0001071307" "0" "90" "2" "16085941" "16085941" "subst" "4.07561E-6" "00006" "MYCN_000067" "g.16085941C>T" "" "{PMID:Galarreta 2020:32250545}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945819C>T" "" "pathogenic (dominant)" "" "0001071309" "0" "90" "2" "16085995" "16085995" "subst" "0" "00006" "MYCN_000098" "g.16085995C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.15945873C>T" "" "pathogenic (dominant)" "" "0001071310" "0" "90" "2" "16085995" "16085995" "subst" "0" "00006" "MYCN_000098" "g.16085995C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.15945873C>T" "" "pathogenic (dominant)" "" "0001071311" "21" "90" "2" "16085995" "16085995" "subst" "0" "00006" "MYCN_000098" "g.16085995C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945873C>T" "" "pathogenic (dominant)" "" "0001071312" "21" "90" "2" "16085995" "16085995" "subst" "0" "00006" "MYCN_000098" "g.16085995C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945873C>T" "" "pathogenic (dominant)" "" "0001071313" "21" "90" "2" "16085995" "16085995" "subst" "0" "00006" "MYCN_000098" "g.16085995C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15945873C>T" "" "pathogenic (dominant)" "" "0001071314" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Peleg 2021:32925198}" "" "1180G>A (Arg393His)" "" "De novo" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" "0001071315" "11" "90" "2" "16086117" "16086117" "del" "0" "00006" "MYCN_000103" "g.16086117del" "" "{PMID:Peleg 2021:32925198}" "" "1293delC" "" "Germline" "" "" "0" "" "" "g.15945995del" "" "pathogenic (dominant)" "" "0001071316" "0" "90" "2" "16086117" "16086117" "del" "0" "00006" "MYCN_000103" "g.16086117del" "" "{PMID:Peleg 2021:32925198}" "" "1293delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15945995del" "" "pathogenic (dominant)" "" "0001071317" "0" "90" "2" "16085934" "16085934" "dup" "0" "00006" "MYCN_000096" "g.16085934dup" "" "{PMID:Peleg 2021:32925198}" "" "1110insG" "" "De novo" "" "" "0" "" "" "g.15945812dup" "" "pathogenic (dominant)" "" "0001071318" "0" "90" "2" "16085750" "16085751" "dup" "0" "00006" "MYCN_000092" "g.16085750_16085751dup" "" "{PMID:Peleg 2021:32925198}" "" "928_930insGT" "" "De novo" "" "" "0" "" "" "g.15945628_15945629dup" "" "pathogenic (dominant)" "" "0001071319" "1" "90" "2" "16082663" "16082703" "del" "0" "00006" "MYCN_000084" "g.16082663_16082703del" "" "{PMID:Peleg 2021:32925198}" "" "474_514del" "" "De novo" "" "" "0" "" "" "g.15942541_15942581del" "" "pathogenic (dominant)" "" "0001071320" "0" "90" "2" "16086001" "16086001" "subst" "0" "00006" "MYCN_000021" "g.16086001C>T" "" "{PMID:Peleg 2021:32925198}" "" "" "" "De novo" "" "" "0" "" "" "g.15945879C>T" "" "pathogenic (dominant)" "" "0001071321" "1" "90" "2" "16082320" "16082320" "dup" "0" "00006" "MYCN_000035" "g.16082320dup" "" "{PMID:Peleg 2021:32925198}" "" "134dupC" "" "De novo" "" "" "0" "" "" "g.15942198dup" "" "pathogenic (dominant)" "" "0001071322" "0" "90" "2" "16080683" "16087129" "del" "0" "00006" "MYCN_000079" "g.(16066442_16080683)_(16087129_16108666)del" "" "{PMID:Peleg 2021:32925198}" "" "del 2p24.3, hg18 15983893-16026117" "425kb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "g.(15926320_15940561)_(15947007_15968544)del" "" "pathogenic (dominant)" "" "0001071327" "0" "90" "2" "0" "0" "" "" "00006" "MYCN_000077" "g.(?_5640273)_(19609496_?)ddel" "" "{PMID:Muirhead 2021:34737199}" "" "hg19 g.15640273_19609496del" "Mb deletion affecting 22 genes incl. MYCN" "De novo" "" "" "0" "" "" "g.(?_15500151)_(19469374_?)del" "SCV001754841" "pathogenic (dominant)" "" "0001071328" "0" "90" "2" "16086002" "16086002" "subst" "0" "00006" "MYCN_000022" "g.16086002G>A" "" "{PMID:Lehman 2009:19921653}" "" "R394H" "" "De novo" "" "" "0" "" "" "g.15945880G>A" "" "pathogenic (dominant)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYCN ## Count = 156 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000079641" "00000127" "00" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383His)" "" "0000254422" "00000127" "30" "501" "0" "501" "0" "c.501A>G" "r.(?)" "p.(Gly167=)" "" "0000292391" "00000127" "50" "1093" "0" "1093" "0" "c.1093C>G" "r.(?)" "p.(Pro365Ala)" "" "0000292392" "00000127" "30" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Thr6=)" "" "0000292393" "00000127" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Glu69=)" "" "0000292394" "00000127" "30" "279" "0" "279" "0" "c.279G>C" "r.(?)" "p.(Glu93Asp)" "" "0000292395" "00000127" "50" "451" "0" "451" "0" "c.451G>C" "r.(?)" "p.(Gly151Arg)" "" "0000292396" "00000127" "30" "658" "0" "658" "0" "c.658G>C" "r.(?)" "p.(Ala220Pro)" "" "0000292397" "00000127" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Ala251=)" "" "0000292398" "00000127" "50" "807" "0" "809" "0" "c.807_809del" "r.(?)" "p.(Glu271del)" "" "0000292399" "00000127" "30" "90" "0" "90" "0" "c.90G>C" "r.(?)" "p.(Pro30=)" "" "0000292400" "00000127" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ala307Val)" "" "0000326869" "00000127" "50" "816" "0" "816" "0" "c.816T>G" "r.(?)" "p.(Asp272Glu)" "" "0000326870" "00000127" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Lys424Arg)" "" "0000342796" "00000127" "90" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Cys)" "" "0000342798" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0000342802" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0000342810" "00000127" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Trp)" "" "0000345412" "00000127" "90" "1282" "0" "1282" "0" "c.1282G>T" "r.(?)" "p.(Glu428Ter)" "" "0000347148" "00000127" "70" "1205" "0" "1205" "0" "c.1205T>C" "r.(?)" "p.(Leu402Pro)" "" "0000347174" "00000127" "70" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Leu442Pro)" "" "0000350955" "00000127" "30" "-214" "0" "-214" "0" "c.-214G>T" "r.(?)" "p.(=)" "" "0000509724" "00000127" "50" "-183" "0" "-183" "0" "c.-183G>C" "r.(?)" "p.(=)" "" "0000509726" "00000127" "90" "204" "0" "205" "0" "c.204_205del" "r.(?)" "p.(Glu69AlafsTer15)" "" "0000509727" "00000127" "30" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Gly104Asp)" "" "0000509729" "00000127" "30" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Arg)" "" "0000509731" "00000127" "30" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(Ala354=)" "" "0000606165" "00000127" "90" "134" "0" "134" "0" "c.134dup" "r.(?)" "p.(Glu47GlyfsTer8)" "" "0000606166" "00000127" "30" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "" "0000606167" "00000127" "50" "799" "0" "799" "0" "c.799G>T" "r.(?)" "p.(Asp267Tyr)" "" "0000654230" "00000127" "30" "-170" "0" "-170" "0" "c.-170A>C" "r.(?)" "p.(=)" "" "0000654231" "00000127" "30" "111" "0" "111" "0" "c.111C>A" "r.(?)" "p.(Phe37Leu)" "" "0000654232" "00000127" "90" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Cys)" "" "0000676054" "00000127" "30" "-179" "0" "-179" "0" "c.-179C>G" "r.(?)" "p.(=)" "" "0000717907" "00000127" "50" "109" "0" "109" "0" "c.109T>A" "r.(?)" "p.(Phe37Ile)" "" "0000717908" "00000127" "90" "204" "0" "205" "0" "c.204_205del" "r.(?)" "p.(Glu69AlafsTer15)" "" "0000717909" "00000127" "90" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Glu132Ter)" "" "0000799740" "00000127" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322*)" "" "0000799741" "00000127" "70" "1172" "0" "1172" "0" "c.1172G>T" "r.(?)" "p.(Arg391Leu)" "" "0000799742" "00000127" "70" "1319" "0" "1319" "0" "c.1319T>C" "r.(?)" "p.(Leu440Pro)" "" "0000816626" "00000127" "70" "266" "0" "266" "0" "c.266dup" "r.(?)" "p.(Ser90GlnfsTer176)" "" "0000848989" "00000127" "30" "713" "0" "713" "0" "c.713G>C" "r.(?)" "p.(Arg238Pro)" "" "0000857792" "00000127" "90" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Gly167*)" "" "0000857793" "00000127" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Lys456Arg)" "" "0000883809" "00000127" "30" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Pro157Leu)" "" "0000923312" "00000127" "50" "535" "0" "535" "0" "c.535C>G" "r.(?)" "p.(Leu179Val)" "" "0000923313" "00000127" "30" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Ala220Ser)" "" "0000947370" "00000127" "30" "-24" "0" "-24" "0" "c.-24A>T" "r.(?)" "p.(=)" "" "0000947371" "00000127" "50" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "" "0000974376" "00000127" "30" "-214" "0" "-214" "0" "c.-214G>T" "r.(?)" "p.(=)" "" "0000974377" "00000127" "50" "-129" "0" "-129" "0" "c.-129A>G" "r.(?)" "p.(=)" "" "0000974378" "00000127" "70" "940" "0" "940" "0" "c.940C>T" "r.(?)" "p.(Gln314*)" "" "0000991699" "00000127" "30" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Ser76Ile)" "" "0000991700" "00000127" "50" "279" "0" "279" "0" "c.279G>C" "r.(?)" "p.(Glu93Asp)" "" "0000991701" "00000127" "30" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Glu)" "" "0000991702" "00000127" "30" "509" "0" "509" "0" "c.509G>C" "r.(?)" "p.(Arg170Pro)" "" "0000991703" "00000127" "30" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0001032445" "00000127" "50" "-195" "0" "-195" "0" "c.-195G>C" "r.(?)" "p.(=)" "" "0001032446" "00000127" "30" "-177" "0" "-177" "0" "c.-177C>T" "r.(?)" "p.(=)" "" "0001032447" "00000127" "50" "-59" "0" "-59" "0" "c.-59del" "r.(?)" "p.(=)" "" "0001032448" "00000127" "30" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Thr403Met)" "" "0001050529" "00000127" "50" "-118" "290" "-118" "290" "c.-118+290del" "r.(=)" "p.(=)" "" "0001063350" "00000127" "70" "1145" "0" "1145" "0" "c.1145G>C" "r.(?)" "p.(Arg382Pro)" "" "0001071204" "00000127" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071227" "00000127" "90" "-117" "-1" "1396" "0" "c.(-118+1_-117-1)_(*1_?)del" "r.?" "p.0" "_2_3_" "0001071228" "00000127" "90" "881" "0" "882" "0" "c.881_882dup" "r.(?)" "p.(Thr295SerfsTer25)" "" "0001071229" "00000127" "90" "915" "0" "916" "0" "c.915_916insT" "r.(?)" "p.(Ala306CysfsTer37)" "" "0001071230" "00000127" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Ter)" "" "0001071231" "00000127" "90" "1005" "0" "1005" "0" "c.1005del" "r.(?)" "p.(Ser336LeufsTer15)" "" "0001071232" "00000127" "90" "1105" "0" "1106" "0" "c.1105_1106dup" "r.(?)" "p.(Ser369ArgfsTer3)" "" "0001071233" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001071234" "00000127" "90" "1177" "0" "1177" "0" "c.1177C>A" "r.(?)" "p.(Arg393Ser)" "" "0001071235" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0001071236" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0001071237" "00000127" "90" "1207" "0" "1207" "0" "c.1207del" "r.(?)" "p.(Thr403ArgfsTer10)" "" "0001071238" "00000127" "90" "1293" "0" "1293" "0" "c.1293del" "r.(?)" "p.(Ser432ProfsTer24)" "" "0001071239" "00000127" "90" "1338" "0" "1338" "0" "c.1338del" "r.(?)" "p.(Lys446AsnfsTer10)" "" "0001071240" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0001071241" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001071242" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001071243" "00000127" "90" "-117" "-1" "1396" "0" "c.(-118+1_-117-1)_(*1_?)del" "r.?" "p.0" "_2_3_" "0001071244" "00000127" "90" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73Ter)" "" "0001071245" "00000127" "90" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73Ter)" "" "0001071246" "00000127" "90" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73Ter)" "" "0001071247" "00000127" "90" "134" "0" "134" "0" "c.134dup" "r.(?)" "p.(Glu47GlyfsTer8)" "2" "0001071248" "00000127" "90" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Glu73Ter)" "2" "0001071249" "00000127" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77Ter)" "2" "0001071250" "00000127" "90" "302" "0" "302" "0" "c.302del" "r.(?)" "p.(Gly101AspfsTer30)" "2" "0001071251" "00000127" "90" "451" "0" "451" "0" "c.451G>T" "r.(?)" "p.(Gly151Ter)" "2" "0001071252" "00000127" "90" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Ser221Ter)" "2" "0001071253" "00000127" "90" "683" "0" "683" "0" "c.683del" "r.(?)" "p.(Pro228GlnfsTer33)" "2" "0001071254" "00000127" "90" "836" "0" "837" "0" "c.836_837dup" "r.(?)" "p.(Val280TrpfsTer40)" "3" "0001071255" "00000127" "90" "881" "0" "882" "0" "c.881_882dup" "r.(?)" "p.(Thr295SerfsTer25)" "3" "0001071256" "00000127" "90" "915" "0" "916" "0" "c.915_916insT" "r.(?)" "p.(Ala306CysfsTer37)" "3" "0001071257" "00000127" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Ter)" "3" "0001071258" "00000127" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Ter)" "3" "0001071259" "00000127" "90" "1005" "0" "1005" "0" "c.1005del" "r.(?)" "p.(Ser336LeufsTer15)" "3" "0001071260" "00000127" "90" "1097" "0" "1097" "0" "c.1097dup" "r.(?)" "p.(Ala367GlyfsTer2)" "3" "0001071261" "00000127" "90" "1105" "0" "1106" "0" "c.1105_1106dup" "r.(?)" "p.(Ser369ArgfsTer3)" "3" "0001071262" "00000127" "90" "1105" "0" "1106" "0" "c.1105_1106dup" "r.(?)" "p.(Ser369ArgfsTer3)" "3" "0001071263" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071264" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071265" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071266" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071267" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "3" "0001071268" "00000127" "90" "1177" "0" "1177" "0" "c.1177C>A" "r.(?)" "p.(Arg393Ser)" "3" "0001071269" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "3" "0001071270" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "3" "0001071271" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "3" "0001071272" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "3" "0001071273" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "3" "0001071274" "00000127" "90" "1207" "0" "1207" "0" "c.1207del" "r.(?)" "p.(Thr403ArgfsTer10)" "3" "0001071275" "00000127" "90" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Pro409Leu)" "3" "0001071276" "00000127" "90" "1274" "0" "1274" "0" "c.1274dup" "r.(?)" "p.(Ala426GlyfsTer3)" "3" "0001071277" "00000127" "90" "1293" "0" "1293" "0" "c.1293del" "r.(?)" "p.(Ser432ProfsTer24)" "3" "0001071278" "00000127" "90" "1338" "0" "1338" "0" "c.1338del" "r.(?)" "p.(Lys446AsnfsTer10)" "3" "0001071279" "00000127" "90" "-1308176" "0" "2305" "0" "c.(-3198131_-1308176)_(*910_*603367)del" "r.0" "p.0" "_1_3_" "0001071280" "00000127" "90" "-4602" "0" "790" "1" "c.(-309750_-4602)_(790+1_791-1)del" "r.0?" "p.0?" "_1_2i" "0001071281" "00000127" "90" "-1308176" "0" "2305" "0" "c.(-3198131_-1308176)_(*910_*603367)del" "r.0" "p.0" "_1_3_" "0001071282" "00000127" "90" "-1308176" "0" "1878667" "0" "c.(-3198131_-1308176)_(*1877272_?)del" "r.0" "p.0" "_1_3_" "0001071283" "00000127" "90" "-4602" "0" "2305" "0" "c.(-309750_-4602)_(*910_*603367)del" "r.0?" "p.0?" "_1_3_" "0001071284" "00000127" "30" "-211" "0" "-211" "0" "c.-211C>T" "r.(?)" "p.(=)" "1" "0001071288" "00000127" "90" "626" "0" "626" "0" "c.626dup" "r.(?)" "p.(Ala210GlyfsTer56)" "2" "0001071289" "00000127" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382His)" "3" "0001071290" "00000127" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0001071292" "00000127" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Thr58Met)" "" "0001071293" "00000127" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Pro60Leu)" "" "0001071294" "00000127" "70" "511" "0" "551" "0" "c.511_551del" "r.(?)" "p.(Ala171ArgfsTer81)" "" "0001071295" "00000127" "70" "511" "0" "551" "0" "c.511_551del" "r.(?)" "p.(Ala171ArgfsTer81)" "" "0001071296" "00000127" "90" "" "0" "" "0" "c.(790+1_790+819)_(*2754_?)del" "r.0" "p.0" "2i_3_" "0001071297" "00000127" "90" "" "0" "" "0" "c.(?_-279430)_(*947634_?)del" "r.0" "p.0" "_1_3_" "0001071298" "00000127" "90" "" "0" "" "0" "c.(?_-279430)_(*947634_?)del" "r.0" "p.0" "_1_3_" "0001071299" "00000127" "90" "" "0" "" "0" "c.(?_-279430)_(*947634_?)del" "r.0" "p.0" "_1_3_" "0001071300" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001071301" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0001071302" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0001071303" "00000127" "90" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" "" "0001071304" "00000127" "70" "1168" "0" "1168" "0" "c.1168G>T" "r.(?)" "p.(Glu390Ter)" "" "0001071305" "00000127" "70" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Cys)" "" "0001071307" "00000127" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" "" "0001071309" "00000127" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0001071310" "00000127" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0001071311" "00000127" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0001071312" "00000127" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0001071313" "00000127" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0001071314" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" "0001071315" "00000127" "90" "1293" "0" "1293" "0" "c.1293del" "r.(?)" "p.(Ser432ProfsTer24)" "" "0001071316" "00000127" "90" "1293" "0" "1293" "0" "c.1293del" "r.(?)" "p.(Ser432ProfsTer24)" "" "0001071317" "00000127" "90" "1110" "0" "1110" "0" "c.1110dup" "r.(?)" "p.(Ser371GlufsTer6)" "" "0001071318" "00000127" "90" "926" "0" "927" "0" "c.926_927dup" "r.(?)" "p.(Pro310ValfsTer10)" "" "0001071319" "00000127" "90" "477" "0" "517" "0" "c.477_517del" "r.(?)" "p.(Gly161ProfsTer91)" "" "0001071320" "00000127" "90" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Cys)" "" "0001071321" "00000127" "90" "134" "0" "134" "0" "c.134dup" "r.(?)" "p.(Glu47GlyfsTer8)" "" "0001071322" "00000127" "90" "" "0" "" "0" "c.(-14541_-300)_(*910_*22447)del" "r.0" "p.0" "_1_3_" "0001071327" "00000127" "90" "-440710" "0" "3524672" "0" "c.(?_-440710)_(*3523277_?)del" "r.0" "p.0" "_1_3_" "0001071328" "00000127" "90" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{variantid}}" "0000050661" "0000079641" "0000388182" "0000816626" "0000476381" "0001071204" "0000476382" "0001071227" "0000476383" "0001071228" "0000476384" "0001071229" "0000476385" "0001071230" "0000476386" "0001071231" "0000476387" "0001071232" "0000476388" "0001071233" "0000476389" "0001071234" "0000476390" "0001071235" "0000476391" "0001071236" "0000476392" "0001071237" "0000476393" "0001071238" "0000476394" "0001071239" "0000476395" "0001071240" "0000476396" "0001071241" "0000476397" "0001071242" "0000476398" "0001071243" "0000476399" "0001071244" "0000476400" "0001071245" "0000476401" "0001071246" "0000476402" "0001071247" "0000476403" "0001071248" "0000476403" "0001071284" "0000476404" "0001071249" "0000476405" "0001071250" "0000476406" "0001071251" "0000476407" "0001071252" "0000476408" "0001071253" "0000476409" "0001071254" "0000476410" "0001071255" "0000476411" "0001071256" "0000476412" "0001071257" "0000476413" "0001071258" "0000476414" "0001071259" "0000476415" "0001071260" "0000476416" "0001071261" "0000476417" "0001071262" "0000476418" "0001071263" "0000476419" "0001071264" "0000476420" "0001071265" "0000476421" "0001071266" "0000476422" "0001071267" "0000476423" "0001071268" "0000476424" "0001071269" "0000476425" "0001071270" "0000476426" "0001071271" "0000476427" "0001071272" "0000476428" "0001071273" "0000476429" "0001071274" "0000476430" "0001071275" "0000476431" "0001071276" "0000476432" "0001071277" "0000476433" "0001071278" "0000476434" "0001071279" "0000476435" "0001071280" "0000476436" "0001071281" "0000476437" "0001071282" "0000476438" "0001071283" "0000476441" "0001071288" "0000476442" "0001071289" "0000476443" "0001071290" "0000476444" "0001071292" "0000476445" "0001071293" "0000476446" "0001071294" "0000476447" "0001071295" "0000476448" "0001071296" "0000476449" "0001071297" "0000476450" "0001071298" "0000476451" "0001071299" "0000476452" "0001071300" "0000476453" "0001071301" "0000476454" "0001071302" "0000476455" "0001071303" "0000476456" "0001071304" "0000476457" "0001071305" "0000476458" "0001071307" "0000476460" "0001071309" "0000476461" "0001071310" "0000476462" "0001071311" "0000476463" "0001071312" "0000476464" "0001071313" "0000476465" "0001071314" "0000476466" "0001071315" "0000476467" "0001071316" "0000476468" "0001071317" "0000476469" "0001071318" "0000476470" "0001071319" "0000476471" "0001071320" "0000476472" "0001071321" "0000476473" "0001071322" "0000476474" "0001071327" "0000476475" "0001071328"