### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SGCE) # 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}}" "SGCE" "sarcoglycan, epsilon" "7" "q21.3" "maternal" "LRG_206" "UD_132119015220" "" "https://www.LOVD.nl/SGCE" "SGCE homepage Leiden Muscular Dystrophy pages " "1" "10808" "8910" "604149" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/SGCE_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2000-08-10 00:00:00" "00006" "2021-08-09 14:35:03" "00006" "2025-11-13 13:04:16" ## 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}}" "00025242" "SGCE" "transcript variant 2" "002" "NM_003919.2" "" "NP_003910.1" "" "" "" "-111" "1589" "1314" "94285521" "94214536" "00006" "2017-11-12 16:16:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00625" "DJO" "dystonia, juvenile-onset (DJO)" "AD" "607371" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01451" "DYT11" "dystonia, myoclonic, type 11 (DYT11)" "AD" "159900" "" "myoclonic jerks affecting mostly proximal muscles; dystonia, usually torticollis or writer\'s cramp, observed in most patients, occasionally the only symptom; onset usually first or second decade; symptoms often respond to alcohol, patients may have psychiatric abnormalities" "maternal inheritance most without clinical symptoms" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SGCE" "01451" ## Individuals ## Do not remove or alter this header ## ## Count = 113 "{{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}}" "00072203" "" "" "" "4" "" "01604" "{PMID:Wada 2015:25868953}, {DOI:Wada 2015:10.1111/ped.12613}" "3-generation family, affected boy, father and uncle, asymptomatic heterozygous carrier grandfather" "M" "no" "Japan" ">06y" "0" "" "" "Japanese" "25868953-FamPatIII2" "00072225" "" "" "" "8" "" "01604" "{PMID:Uruha 2014:24716024}, {DOI:Uruha 2014:10.1155/2014/937095}" "3-generation family, 8-affecteds (5F, 3M)" "F" "no" "Japan" ">42y" "0" "" "" "Japanese" "24716024-FamPatII2" "00072226" "" "" "" "1" "" "01604" "{PMID:Rocha 2016:26810467}, {DOI:Rocha 2016:10.1016/j.jocn.2015.08.034}" "family, patient’s father and two paternal uncles had alcohol-responsive myoclonus" "M" "" "Portugal" ">20y" "0" "" "" "" "26810467-Pat2" "00072230" "" "" "" "11" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "3-generation family, 7 affecteds (2F, 4M, fetus), 4 unaffected heterozygous carriers (inherited maternally)" "F" "no" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII3" "00072231" "" "" "00072230" "1" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "M" "no" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII5" "00072232" "" "" "00072230" "1" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "M" "" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII8" "00072233" "" "" "00072230" "1" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "M" "no" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII9" "00072234" "" "" "00072230" "1" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "F" "no" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII10" "00072236" "" "" "00072230" "1" "" "01604" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "M" "" "Norway" "" "0" "" "" "Norwegian" "24297365-FamPatIII11" "00072242" "" "" "" "3" "" "01604" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "2-generation family, 3 affecteds, unaffected heterozygous carrier parents" "F" "no" "Sweden" ">08y" "0" "" "" "" "22026499-FamPatIII2" "00072243" "" "" "00072242" "1" "" "01604" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "M" "" "Sweden" "" "0" "" "" "" "22026499-FamPatII3" "00072244" "" "" "00072242" "1" "" "01604" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "F" "no" "Sweden" ">50y" "0" "" "" "" "22026499-FamPatI2" "00100411" "" "" "" "9" "" "00006" "{PMID:Chung 2007:17394247}, {DOI:Chung 2007:10.1002/mds.21093}" "5-generation family, 3 affected/6 probably affected (4F, 5M), paternal inheritance" "F;M" "no" "Korea" "" "0" "" "" "" "17394247-Fam" "00100943" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132770" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00133721" "" "" "" "1" "" "00006" "{PMID:Grabowski:12634861}" "" "" "" "" "" "0" "" "" "" "" "00133722" "" "" "" "1" "" "00006" "{PMID:Grabowski:12634861}" "" "" "" "" "" "0" "" "" "" "" "00133723" "" "" "" "1" "" "00006" "{PMID:Grabowski:12634861}" "" "" "" "" "" "0" "" "" "" "" "00133724" "" "" "" "1" "" "00006" "{PMID:DeBerardinis:12900898}" "" "M" "" "" "" "0" "" "" "white" "" "00133725" "" "" "" "9" "" "00006" "{PMID:Valente 2005:15728306}" "" "" "" "" "" "0" "" "" "" "" "00133726" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00133727" "" "" "" "5" "" "00006" "{PMID:Hedrich 2004:15079037}" "large family (5 affecteds) alcohol sensitive; 3 affecteds tested express mutant allele only, one unaffected the normal allele" "" "" "" "" "0" "" "" "" "" "00133728" "" "" "" "1" "" "00006" "{PMID:Hedrich 2004:15079037}, {PMID:Gerrits 2006:16534121}" "" "" "" "" "" "0" "" "" "" "" "00133729" "" "" "" "5" "" "00006" "{PMID:Schule 2004:15258227}" "3 generation family (5affecteds)" "" "" "" "" "0" "" "" "" "" "00133730" "" "" "" "3" "" "00006" "{PMID:Tezenas 2005:16227522}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133731" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "F" "" "" "" "0" "" "" "" "" "00133732" "" "" "" "1" "" "00006" "Subm. Marechal" "" "" "" "" "" "0" "" "" "" "" "00133733" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "M" "" "" "" "0" "" "" "" "" "00133734" "" "" "" "5" "" "00006" "{PMID:Tezenas 2005:16227522}" "5 affecteds" "" "" "" "" "0" "" "" "" "" "00133735" "" "" "" "1" "" "00006" "Subm. Marechal" "" "" "" "" "" "0" "" "" "" "" "00133736" "" "" "" "7" "" "00006" "{PMID:Cif:15197720}" "large family (7 affecteds)" "" "" "" "" "0" "" "" "" "" "00133737" "" "" "" "3" "" "00006" "{PMID:Asmus:12325078}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133738" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133739" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "F" "" "" "" "0" "" "" "" "" "00133740" "" "" "" "1" "" "00006" "{PMID:Asmus:12325078}" "" "" "" "" "" "0" "" "" "" "" "00133741" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}, {OMIM604149:0001}" "" "F" "" "" "" "0" "" "" "" "" "00133742" "" "" "" "3" "" "00006" "{PMID:Zimprich:11528394}, {OMIM604149:0001}" "3 affecteds (2 male 1 F), east Bavaria" "" "" "Germany" "" "0" "" "" "" "" "00133743" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}, {OMIM604149:0001}" "" "F" "" "" "" "0" "" "" "" "" "00133744" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "F" "" "" "" "0" "" "" "" "" "00133745" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}, {DB: Marechal}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133746" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "M" "" "" "" "0" "" "" "" "" "00133747" "" "" "" "2" "" "00006" "{PMID:Han:12874409}, {OMIM604149:0002}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133748" "" "" "" "7" "" "00006" "{PMID:Zimprich:11528394}, {OMIM604149:0002}" "large family 7 affecteds (4 male 3 F), north Bavaria" "" "" "Germany" "" "0" "" "" "" "" "00133749" "" "" "" "1" "" "00006" "{PMID:Hedrich 2004:15079037}" "unaffected carrier fathter" "F" "" "" "" "0" "" "" "" "" "00133750" "" "" "" "8" "" "00006" "{PMID:Zimprich:11528394}, {OMIM604149:0002}" "large family 8 affecteds (3 male 5 F), Prussia" "" "" "Germany" "" "0" "" "" "" "" "00133751" "" "" "" "13" "" "00006" "{PMID:Han:12874409}, {OMIM604149:0002}" "13 affecteds" "" "" "" "" "0" "" "" "" "" "00133752" "" "" "" "3" "" "00006" "{PMID:Asmus:12325078}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133753" "" "" "" "3" "" "00006" "{PMID:Asmus:12325078}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133754" "" "" "" "5" "" "00006" "{PMID:Asmus:12325078}" "5 affecteds" "" "" "" "" "0" "" "" "" "" "00133755" "" "" "" "1" "" "00006" "{PMID:Hedrich 2004:15079037}, {PMID:Gerrits 2006:16534121}" "affected sister" "M" "" "" "" "0" "" "" "" "" "00133756" "" "" "" "5" "" "00006" "{PMID:Tezenas 2005:16227522}" "5 affecteds" "" "" "" "" "0" "" "" "" "" "00133757" "" "" "" "1" "" "00006" "{PMID:McNally:9475163}" "" "" "" "" "" "0" "" "" "" "" "00133758" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}" "" "F" "" "" "" "0" "" "" "" "" "00133759" "" "" "" "65" "" "00006" "{PMID:Valente 2005:15728306}" "" "" "" "" "" "0" "" "" "" "" "00133760" "" "" "" "1" "" "00006" "{PMID:Kock:14978685}" "identified in MDS patient (no pathogenic change identified)" "" "" "" "" "0" "" "" "" "" "00133761" "" "" "" "9" "" "00006" "{PMID:Valente 2005:15728306}" "" "" "" "" "" "0" "" "" "" "" "00133762" "" "" "" "4" "" "00006" "{PMID:Zimprich:11528394}, {OMIM604149:0004}" "4 affecteds (2 male 2 F)" "" "" "Germany" "" "0" "" "" "" "" "00133763" "" "" "" "4" "" "00006" "{PMID:Marechal:12707948}" "4 affecteds" "" "" "" "" "0" "" "" "" "" "00133764" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133765" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "F" "" "" "" "0" "" "" "" "" "00133766" "" "" "" "1" "" "00006" "{PMID:Asmus:12325078}" "" "" "" "" "" "0" "" "" "" "" "00133767" "" "" "" "7" "" "00006" "{PMID:Asmus 2005:16240355}, {OMIM604149:0010}" "3 generation family (7 affecteds)" "" "" "" "" "0" "" "" "" "" "00133768" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}" "" "F" "" "" "" "0" "" "" "" "" "00133769" "" "" "" "11" "" "00006" "{PMID:Zimprich:11528394}, {OMIM604149:0003}" "large family 11 affecteds (9 male 2 F)" "" "" "Germany" "" "0" "" "" "" "" "00133770" "" "" "" "1" "" "00006" "Subm. Marechal" "" "" "" "" "" "0" "" "" "" "" "00133771" "" "" "" "2" "" "00006" "{PMID:Klein:12402271}, {PMID:Doheny:12391355} {OMIM604149:0006}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133772" "" "" "" "1" "" "00006" "{PMID:Gerrits 2006:16534121}" "" "M" "" "" "" "0" "" "" "" "" "00133773" "" "" "" "1" "" "00006" "{PMID:Muller:12444570}, {PMID:Kock:14978685}" "carrier father expresses normal allele only" "F" "" "" "" "0" "" "" "" "" "00133774" "" "" "" "2" "" "00006" "{PMID:Asmus 2005:16240355}, {OMIM604149:0011}" "2 affected sisters" "" "" "" "" "0" "" "" "" "" "00133775" "" "" "" "1" "" "00006" "Subm. Marechal" "" "" "" "" "" "0" "" "" "" "" "00133776" "" "" "" "5" "" "00006" "{PMID:Doheny:12391346}" "5 affecteds, change submitted by authors" "" "" "" "" "0" "" "" "" "" "00133777" "" "" "" "2" "" "00006" "{PMID:Asmus:12325078}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133778" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "F" "" "" "" "0" "" "" "" "" "00133779" "" "" "" "1" "" "00006" "{PMID:Gerrits 2006:16534121}" "" "F" "" "" "" "0" "" "" "" "" "00133780" "" "" "" "1" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "M" "" "" "" "0" "" "" "" "" "00133781" "" "" "" "4" "" "00006" "{PMID:Zimprich:11528394}" "4 affecteds (3 male 1 F)" "" "" "Germany" "" "0" "" "" "" "" "00133782" "" "" "" "1" "" "00006" "{PMID:Gerrits 2006:16534121}" "" "F" "" "" "" "0" "" "" "" "" "00133783" "" "" "" "3" "" "00006" "{PMID:Asmus:12325078}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133784" "" "" "" "8" "" "00006" "{PMID:Doheny:12391346}" "large family, 8 affecteds" "" "" "" "" "0" "" "" "" "" "00133785" "" "" "" "6" "" "00006" "{PMID:Han:12874409}" "6 affecteds" "" "" "" "" "0" "" "" "" "" "00133786" "" "" "" "8" "" "00006" "{PMID:Klein:12402271}, {OMIM604149:0005}" "8 affecteds" "" "" "" "" "0" "" "" "" "" "00133787" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00133788" "" "" "" "3" "" "00006" "{PMID:Asmus:12325078}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133789" "" "" "" "1" "" "00006" "{PMID:Gerrits 2006:16534121}" "" "F" "" "" "" "0" "" "" "" "" "00133790" "" "" "" "5" "" "00006" "{PMID:Foncke:12821748}, {PMID:Doheny:12391346}, {OMIM604149:0007}" "5 generation family (5 affecteds)" "" "" "" "" "0" "" "" "" "" "00133791" "" "" "" "1" "" "00006" "{PMID:Gerrits 2006:16534121}" "" "M" "" "" "" "0" "" "" "" "" "00133792" "" "" "" "2" "" "00006" "{PMID:Muller:12444570}" "" "F" "" "" "" "0" "" "" "" "" "00133793" "" "" "" "6" "" "00006" "{PMID:Schule 2004:15258227}" "3 generation family (6 affecteds)" "" "" "" "" "0" "" "" "" "" "00133794" "" "" "" "9" "" "00006" "{PMID:Hjermind:12743249}, {OMIM604149:0008}" "2 related families (9 affecteds)" "" "" "" "" "0" "" "" "" "" "00133795" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}, {OMIM604149:0009}" "" "F" "" "" "" "0" "" "" "" "" "00133796" "" "" "" "3" "" "00006" "{PMID:Tezenas 2005:16227522}" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00133797" "" "" "" "1" "" "00006" "{PMID:Valente 2005:15728306}, {OMIM604149:0009}" "" "M" "" "" "" "0" "" "" "" "" "00133798" "" "" "" "1" "" "00399" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00133799" "" "" "" "3" "" "00399" "{PMID:Tezenas 2005:16227522}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00133800" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "" "" "France" "" "0" "" "" "" "" "00133801" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "" "" "France" "" "0" "" "" "" "" "00133802" "" "" "" "7" "" "00006" "{PMID:Muller:12444570}" "" "" "" "" "" "0" "" "" "" "" "00133803" "" "" "" "2" "" "00006" "{PMID:Tezenas 2005:16227522}" "" "" "" "France" "" "0" "" "" "" "" "00164425" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00164725" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00229579" "" "" "" "1" "" "01261" "{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}" "" "M" "" "Estonia" "" "0" "" "" "" "" "00294519" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295501" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295566" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00306769" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00308024" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat3" "00320074" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "172036" "00374855" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2985" "00430466" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "M" "" "Turkey" "" "0" "" "" "" "U10" "00438544" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "M" "" "Turkey" "" "0" "" "" "" "U10" "00448525" "" "" "" "1" "" "04614" "" "" "F" "no" "Spain" "" "" "" "" "" "" "00465957" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "" "" "00469355" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 113 "{{individualid}}" "{{diseaseid}}" "00072203" "01451" "00072225" "01451" "00072226" "01451" "00072230" "01451" "00072231" "01451" "00072232" "01451" "00072233" "01451" "00072234" "01451" "00072236" "01451" "00072242" "01451" "00072243" "01451" "00072244" "01451" "00100411" "01451" "00100943" "01451" "00132770" "00625" "00133721" "00198" "00133722" "00198" "00133723" "00198" "00133724" "00108" "00133725" "00198" "00133726" "00198" "00133727" "00108" "00133728" "00108" "00133729" "00108" "00133730" "00108" "00133731" "00108" "00133732" "00108" "00133733" "00108" "00133734" "00108" "00133735" "00108" "00133736" "00108" "00133737" "00108" "00133738" "00108" "00133739" "00108" "00133740" "00108" "00133741" "00108" "00133742" "00108" "00133743" "00108" "00133744" "00108" "00133745" "00108" "00133746" "00108" "00133747" "00108" "00133748" "00108" "00133749" "00108" "00133750" "00108" "00133751" "00108" "00133752" "00108" "00133753" "00108" "00133754" "00108" "00133755" "00108" "00133756" "00108" "00133757" "00198" "00133758" "00198" "00133759" "00198" "00133760" "00198" "00133761" "00198" "00133762" "00108" "00133763" "00108" "00133764" "00108" "00133765" "00108" "00133766" "00198" "00133767" "00108" "00133768" "00108" "00133769" "00108" "00133770" "00108" "00133771" "00108" "00133772" "00108" "00133773" "00108" "00133774" "00108" "00133775" "00108" "00133776" "00108" "00133777" "00108" "00133778" "00108" "00133779" "00108" "00133780" "00108" "00133781" "00108" "00133782" "00108" "00133783" "00108" "00133784" "00108" "00133785" "00108" "00133786" "00108" "00133787" "00108" "00133788" "00108" "00133789" "00108" "00133790" "00108" "00133791" "00108" "00133792" "00108" "00133793" "00108" "00133794" "00108" "00133795" "00108" "00133796" "00108" "00133797" "00108" "00133798" "00108" "00133799" "00198" "00133800" "00198" "00133801" "00198" "00133802" "00198" "00133803" "00198" "00164425" "00198" "00164725" "00198" "00229579" "01451" "00294519" "00198" "00295501" "00198" "00295566" "00198" "00306769" "00198" "00308024" "00198" "00320074" "01451" "00374855" "00198" "00430466" "05618" "00438544" "05121" "00448525" "01451" "00465957" "01451" "00469355" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00198, 00625, 01451, 05121, 05618 ## Count = 111 "{{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}}" "0000051930" "01451" "00072225" "01604" "Familial, autosomal dominant" "" "psychiatric symptoms (HP:0000708), anxiety (HP:0000739), phobia (HP:?), jerking movement (HP:0007087), exaggerated startle response (HP:0002267)" "05y" "" "" "" "" "" "" "" "" "" "" "0000051931" "01451" "00072226" "01604" "Familial, autosomal dominant" "" "upper limb muscle jerking (HP:0007087), dystonic posture (HP:0001332), laterocollis (HP:0000473)" "" "" "" "" "" "" "" "" "" "" "" "0000051935" "01451" "00072230" "01604" "Familial, autosomal dominant" "" "upper limb and neck myoclonus (HP:0001336), no dystonia (HP:0001332), no seizures in childhood (-HP:0001250), generalized spike-wave activity (HP:0001326)" "" "" "" "" "" "" "" "" "" "" "" "0000051936" "01451" "00072231" "01604" "Familial, autosomal dominant" "" "upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), generalized tonic–clonic seizures (HP:0002069), generalized polyspike wave activity (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000051937" "01451" "00072232" "01604" "Familial, autosomal dominant" "" "upper limb myoclonus (HP:0001336), no dystonia (-HP:0001332), febrile seizures (HP:0002373)" "" "" "" "" "" "" "" "" "" "" "" "0000051938" "01451" "00072233" "01604" "Familial, autosomal dominant" "" "upper limb and neck myoclonus (HP:0001336), no dystonia (-HP:0001332), no seizures in childhood (-HP:0001250), generalized tonic–clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000051939" "01451" "00072234" "01604" "Familial, autosomal dominant" "" "upper limb, trunk and neck myoclonus (HP:0001336), cervical dystonia (HP:0000473), vocal dystonia (HP:?), no epilepsy (-HP:0001250), myoclonic jerks (HP:0001336)" "" "" "" "" "" "" "" "" "" "" "" "0000051940" "01451" "00072236" "01604" "Familial, autosomal dominant" "" "upper limb myoclonus (HP:0001336), vocal dystonia (HP:?), no epilepsy (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000051947" "01451" "00072242" "01604" "Familial, autosomal dominant" "" "dependent of a walker (HP:?), diarrhoeas (HP:?), inability to control defecation (HP:?), myoclonic\r\njerks (HP:0001336)," "00y09m" "" "Myoclonic jerks (HP:0001336)" "" "" "" "" "" "" "" "" "0000051948" "01451" "00072243" "01604" "Familial, autosomal dominant" "" "writer’s cramp (HP:0002356), that alcohol rather induced dystonia (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000051949" "01451" "00072244" "01604" "Familial, autosomal dominant" "" "hemidystonia (HP:?), myoclonal jerks (HP:0001336), interfered severely with balance (HP:0002141) and walking (HP:0002355), psychiatric disorder (HP:0000708), reduced myoclonus after alcohol intake (HP:?)" "" "" "" "" "" "" "" "" "" "" "" "0000078602" "01451" "00072203" "00006" "Familial, autosomal dominant" "06y" "see paper; ..., delay in motor development (HP:0001270), dystonia (HP:0001332), myoclonus (HP:0001336)" "02y08m" "" "" "" "" "" "" "" "" "" "" "0000078603" "01451" "00100411" "00006" "Familial, autosomal dominant" "" "see paper; ..., MDS, bilateral carotid artery stenosis mimicking Moya–Moya disease" "" "" "" "" "" "" "" "" "" "" "" "0000079164" "01451" "00100943" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105574" "00625" "00132770" "01741" "Familial, autosomal dominant" "" "dystonia, myoclonic (DYT-11)" "" "" "" "" "" "" "" "" "" "" "" "0000106470" "00198" "00133721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106471" "00198" "00133722" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106472" "00198" "00133723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106473" "00108" "00133724" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106474" "00198" "00133725" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106475" "00198" "00133726" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106476" "00108" "00133727" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106477" "00108" "00133728" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106478" "00108" "00133729" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106479" "00108" "00133730" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106480" "00108" "00133731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106481" "00108" "00133732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106482" "00108" "00133733" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106483" "00108" "00133734" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106484" "00108" "00133735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome?" "" "0000106485" "00108" "00133736" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106486" "00108" "00133737" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106487" "00108" "00133738" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106488" "00108" "00133739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106489" "00108" "00133740" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106490" "00108" "00133741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106491" "00108" "00133742" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106492" "00108" "00133743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106493" "00108" "00133744" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106494" "00108" "00133745" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106495" "00108" "00133746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106496" "00108" "00133747" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106497" "00108" "00133748" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106498" "00108" "00133749" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106499" "00108" "00133750" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106500" "00108" "00133751" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106501" "00108" "00133752" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106502" "00108" "00133753" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106503" "00108" "00133754" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106504" "00108" "00133755" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106505" "00108" "00133756" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106506" "00198" "00133757" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106507" "00198" "00133758" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome?" "" "0000106508" "00198" "00133759" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106509" "00198" "00133760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome?" "" "0000106510" "00198" "00133761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106511" "00108" "00133762" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106512" "00108" "00133763" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106513" "00108" "00133764" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106514" "00108" "00133765" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106515" "00198" "00133766" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome?" "" "0000106516" "00108" "00133767" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106517" "00108" "00133768" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106518" "00108" "00133769" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106519" "00108" "00133770" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106520" "00108" "00133771" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106521" "00108" "00133772" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106522" "00108" "00133773" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106523" "00108" "00133774" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106524" "00108" "00133775" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106525" "00108" "00133776" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106526" "00108" "00133777" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106527" "00108" "00133778" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106528" "00108" "00133779" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106529" "00108" "00133780" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106530" "00108" "00133781" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106531" "00108" "00133782" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106532" "00108" "00133783" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106533" "00108" "00133784" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106534" "00108" "00133785" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106535" "00108" "00133786" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106536" "00108" "00133787" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106537" "00108" "00133788" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106538" "00108" "00133789" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106539" "00108" "00133790" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106540" "00108" "00133791" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106541" "00108" "00133792" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106542" "00108" "00133793" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106543" "00108" "00133794" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106544" "00108" "00133795" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106545" "00108" "00133796" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106546" "00108" "00133797" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106547" "00108" "00133798" "00399" "Unknown" "" "" "" "" "" "" "" "" "" "" "dystonia, myoclonic, type 11 (DYT-11)" "myoclonus-dystonia syndrome" "" "0000106548" "00198" "00133799" "00399" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106549" "00198" "00133800" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106550" "00198" "00133801" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106551" "00198" "00133802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106552" "00198" "00133803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129484" "00198" "00164425" "01807" "Unknown" "" "Dystonia (HP:0001332); Myoclonus (HP:0001336)" "" "" "" "" "" "" "" "" "" "" "" "0000129764" "00198" "00164725" "01807" "Unknown" "" "HP:0001332 (Dystonia)" "" "" "" "" "" "" "" "" "" "" "" "0000223072" "00198" "00295501" "01164" "Unknown" "" "Dystonia (HP:0001332); Myoclonus (HP:0001336)" "" "" "" "" "" "" "" "" "" "" "" "0000223131" "00198" "00295566" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Abnormal fear/anxiety-related behavior (HP:0100852); Dystonia (HP:0001332); Myoclonus (HP:0001336); Involuntary movements (HP:0004305); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000232596" "00198" "00306769" "01164" "Unknown" "" "Dystonia (HP:0001332); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000233450" "00198" "00308024" "00006" "Isolated (sporadic)" "" "mild global developmental delay, dystonia, gait disorder" "" "" "" "" "" "" "" "" "DYT11" "developmental delay" "" "0000242119" "01451" "00320074" "01164" "Unknown" "" "(+) Dystonia,(+) Myoclonus" "" "" "" "" "" "" "" "" "" "2y" "" "0000270065" "00198" "00374855" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000321263" "05618" "00430466" "00006" "Unknown" "4y" "muscle weakness, hyperCKemia, contractures" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000328447" "05121" "00438544" "00006" "Unknown" "4y" "muscle weakness, hyperCKemia, contractures" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" "0000337701" "01451" "00448525" "04614" "Familial, autosomal dominant" "32" "HP:0001332 Dystonia, HP:0002333 Motor deterioration, HP:0001336 Myoclonus, HP:0001337 Tremor." "21y" "56y" "" "" "" "" "" "" "Dystonia-11, myoclonic (AD, #159900)" "56" "" "0000351355" "01451" "00465957" "03544" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT11" "DYT11" "" "0000354508" "00198" "00469355" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 113 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072357" "00072203" "1" "01604" "01604" "2016-05-31 13:18:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000072380" "00072225" "1" "01604" "01604" "2016-06-01 11:59:33" "" "" "SEQ-NG" "DNA" "" "" "0000072381" "00072226" "1" "01604" "01604" "2016-06-01 12:15:49" "" "" "SEQ-NG" "DNA" "" "" "0000072385" "00072230" "1" "01604" "01604" "2016-06-01 13:38:24" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072386" "00072231" "1" "01604" "01604" "2016-06-01 13:46:38" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072387" "00072232" "1" "01604" "01604" "2016-06-01 13:56:16" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072388" "00072233" "1" "01604" "01604" "2016-06-01 14:03:02" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072389" "00072234" "1" "01604" "01604" "2016-06-01 14:09:47" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072390" "00072236" "1" "01604" "01604" "2016-06-01 14:13:12" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072397" "00072242" "1" "01604" "01604" "2016-06-02 09:34:43" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072398" "00072243" "1" "01604" "01604" "2016-06-02 09:42:28" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000072399" "00072244" "1" "01604" "01604" "2016-06-02 09:49:32" "" "" "PCR;SEQ-NG" "DNA" "" "" "0000100816" "00100411" "1" "00006" "00006" "2017-02-18 22:16:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000101366" "00100943" "1" "01741" "01741" "2017-03-15 14:12:09" "" "" "SEQ" "DNA" "" "" "0000133605" "00132770" "1" "01741" "01741" "2017-11-06 11:26:09" "" "" "SEQ" "DNA" "" "" "0000134559" "00133721" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134560" "00133722" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134561" "00133723" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134562" "00133724" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "PCR" "DNA" "" "" "0000134563" "00133725" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134564" "00133726" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA;RNA" "" "" "0000134565" "00133727" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA;RNA" "" "" "0000134566" "00133728" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000134567" "00133729" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "DHPLC" "DNA" "" "" "0000134568" "00133730" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134569" "00133731" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134570" "00133732" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134571" "00133733" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134572" "00133734" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA;RNA" "" "" "0000134573" "00133735" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134574" "00133736" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134575" "00133737" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134576" "00133738" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134577" "00133739" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134578" "00133740" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000134579" "00133741" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134580" "00133742" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134581" "00133743" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134582" "00133744" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134583" "00133745" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134584" "00133746" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134585" "00133747" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134586" "00133748" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134587" "00133749" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134588" "00133750" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134589" "00133751" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134590" "00133752" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134591" "00133753" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134592" "00133754" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134593" "00133755" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134594" "00133756" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134595" "00133757" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134596" "00133758" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134597" "00133759" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134598" "00133760" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134599" "00133761" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134600" "00133762" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134601" "00133763" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134602" "00133764" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134603" "00133765" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134604" "00133766" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000134605" "00133767" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ;PCRq" "DNA;RNA" "" "" "0000134606" "00133768" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134607" "00133769" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134608" "00133770" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134609" "00133771" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SSCA" "DNA" "" "" "0000134610" "00133772" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-09 19:17:22" "SEQ" "DNA" "" "" "0000134611" "00133773" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-09 19:08:25" "SSCA" "DNA;RNA" "" "" "0000134612" "00133774" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ;PCRq" "DNA;RNA" "" "" "0000134613" "00133775" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134614" "00133776" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134615" "00133777" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134616" "00133778" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134617" "00133779" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134618" "00133780" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134619" "00133781" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134620" "00133782" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134621" "00133783" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134622" "00133784" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134623" "00133785" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134624" "00133786" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SSCA" "DNA" "" "" "0000134625" "00133787" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134626" "00133788" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134627" "00133789" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134628" "00133790" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "DHPLC" "DNA" "" "" "0000134629" "00133791" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134630" "00133792" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ;SSCA" "DNA;RNA" "" "" "0000134631" "00133793" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "DHPLC" "DNA" "" "" "0000134632" "00133794" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134633" "00133795" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134634" "00133796" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2012-03-04 15:57:56" "SEQ" "DNA" "" "" "0000134635" "00133797" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "DHPLC" "DNA" "" "" "0000134636" "00133798" "1" "00399" "00399" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134637" "00133799" "1" "00399" "00399" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134638" "00133800" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134639" "00133801" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134640" "00133802" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000134641" "00133803" "1" "00006" "00006" "2007-10-08 08:42:59" "00006" "2013-02-01 19:44:13" "SEQ" "DNA" "" "" "0000165292" "00164425" "1" "01807" "01807" "2018-05-17 16:06:58" "" "" "SEQ" "DNA" "" "" "0000165592" "00164725" "1" "01807" "01807" "2018-06-05 19:09:35" "" "" "SEQ" "DNA" "" "" "0000230671" "00229579" "1" "01261" "01261" "2019-03-30 16:39:07" "" "" "SEQ-NG-I" "DNA" "blood" "TruSight One panel (4813 genes)" "0000295687" "00294519" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296669" "00295501" "1" "01164" "01164" "2020-03-12 11:13:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000296736" "00295566" "1" "01164" "01164" "2020-03-18 10:48:23" "" "" "SEQ-NG-S" "DNA" "" "" "0000307904" "00306769" "1" "01164" "01164" "2020-07-20 10:27:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000309168" "00308024" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321259" "00320074" "1" "01164" "01164" "2020-11-23 12:03:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000376049" "00374855" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000431875" "00430466" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440026" "00438544" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" "0000450108" "00448525" "1" "04614" "04614" "2024-03-26 12:13:22" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000467609" "00465957" "1" "03544" "03544" "2025-06-23 07:19:37" "" "" "SEQ" "DNA" "peripheral blood" "" "0000471023" "00469355" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 102 "{{screeningid}}" "{{geneid}}" "0000072357" "SGCE" "0000072380" "SGCE" "0000072381" "SGCE" "0000072385" "SGCE" "0000072386" "SGCE" "0000072387" "SGCE" "0000072388" "SGCE" "0000072389" "SGCE" "0000072390" "SGCE" "0000072397" "SGCE" "0000072398" "SGCE" "0000072399" "SGCE" "0000100816" "SGCE" "0000101366" "SGCE" "0000133605" "SGCE" "0000134559" "SGCE" "0000134560" "SGCE" "0000134561" "SGCE" "0000134562" "SGCE" "0000134563" "SGCE" "0000134564" "SGCE" "0000134565" "SGCE" "0000134566" "SGCE" "0000134567" "SGCE" "0000134568" "SGCE" "0000134569" "SGCE" "0000134570" "SGCE" "0000134571" "SGCE" "0000134572" "SGCE" "0000134573" "SGCE" "0000134574" "SGCE" "0000134575" "SGCE" "0000134576" "SGCE" "0000134577" "SGCE" "0000134578" "SGCE" "0000134579" "SGCE" "0000134580" "SGCE" "0000134581" "SGCE" "0000134582" "SGCE" "0000134583" "SGCE" "0000134584" "SGCE" "0000134585" "SGCE" "0000134586" "SGCE" "0000134587" "SGCE" "0000134588" "SGCE" "0000134589" "SGCE" "0000134590" "SGCE" "0000134591" "SGCE" "0000134592" "SGCE" "0000134593" "SGCE" "0000134594" "SGCE" "0000134595" "SGCE" "0000134596" "SGCE" "0000134597" "SGCE" "0000134598" "SGCE" "0000134599" "SGCE" "0000134600" "SGCE" "0000134601" "SGCE" "0000134602" "SGCE" "0000134603" "SGCE" "0000134604" "SGCE" "0000134605" "SGCE" "0000134606" "SGCE" "0000134607" "SGCE" "0000134608" "SGCE" "0000134609" "SGCE" "0000134610" "SGCE" "0000134611" "SGCE" "0000134612" "SGCE" "0000134613" "SGCE" "0000134614" "SGCE" "0000134615" "SGCE" "0000134616" "SGCE" "0000134617" "SGCE" "0000134618" "SGCE" "0000134619" "SGCE" "0000134620" "SGCE" "0000134621" "SGCE" "0000134622" "SGCE" "0000134623" "SGCE" "0000134624" "SGCE" "0000134625" "SGCE" "0000134626" "SGCE" "0000134627" "SGCE" "0000134628" "SGCE" "0000134629" "SGCE" "0000134630" "SGCE" "0000134631" "SGCE" "0000134632" "SGCE" "0000134633" "SGCE" "0000134634" "SGCE" "0000134635" "SGCE" "0000134636" "SGCE" "0000134637" "SGCE" "0000134638" "SGCE" "0000134639" "SGCE" "0000134640" "SGCE" "0000134641" "SGCE" "0000309168" "SGCE" "0000321259" "SGCE" "0000376049" "SGCE" "0000467609" "SGCE" ## 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 = 189 "{{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}}" "0000115916" "10" "90" "7" "94285301" "94285301" "subst" "0" "01604" "SGCE_000063" "g.94285301C>A" "" "{PMID:Wada 2015:25868953}, {DOI:Wada 2015:10.1111/ped.12613}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94655989C>A" "" "pathogenic (paternal)" "" "0000115940" "11" "90" "7" "94257672" "94257672" "subst" "0" "01604" "SGCE_000006" "g.94257672C>T" "" "{PMID:Uruha 2014:24716024}, {DOI:Uruha 2014:10.1155/2014/937095}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628360C>T" "" "pathogenic (paternal)" "" "0000115944" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115945" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115946" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115947" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115948" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115949" "11" "90" "7" "94257535" "94257535" "del" "0" "01604" "SGCE_000064" "g.94257535del" "" "{PMID:Haugarvoll 2014:24297365}, {DOI:Haugarvoll 2014:10.1007/s00415-013-7203-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628223del" "" "pathogenic (paternal)" "" "0000115956" "11" "90" "7" "94257518" "94257518" "subst" "0" "01604" "SGCE_000060" "g.94257518A>G" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628206A>G" "" "pathogenic (paternal)" "" "0000115957" "21" "90" "7" "94257518" "94257518" "subst" "0" "01604" "SGCE_000060" "g.94257518A>G" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628206A>G" "" "pathogenic (paternal)" "" "0000115958" "11" "30" "7" "94257599" "94257599" "subst" "3.27008E-5" "01604" "SGCE_000061" "g.94257599C>T" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "" "" "Germline" "no" "" "0" "" "" "g.94628287C>T" "" "likely benign" "" "0000115959" "1" "90" "7" "94257518" "94257518" "subst" "0" "01604" "SGCE_000060" "g.94257518A>G" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94628206A>G" "" "pathogenic (paternal)" "" "0000163197" "11" "30" "7" "94257499" "94257499" "subst" "0" "00006" "SGCE_000062" "g.94257499C>T" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "IVS3+15G>A" "" "Germline" "no" "" "0" "" "" "g.94628187C>T" "" "likely benign" "" "0000163198" "21" "30" "7" "94257499" "94257499" "subst" "0" "00006" "SGCE_000062" "g.94257499C>T" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "IVS3+15G>A" "" "Germline" "no" "" "0" "" "" "g.94628187C>T" "" "likely benign" "" "0000163199" "21" "30" "7" "94257599" "94257599" "subst" "3.27008E-5" "00006" "SGCE_000061" "g.94257599C>T" "" "{PMID:Tedroff 2011:22026499}, {DOI:Tedroff 2011:10.1111/j.1651-2227.2011.02502.x}" "" "" "" "Germline" "no" "" "0" "" "" "g.94628287C>T" "" "likely benign" "" "0000163200" "11" "90" "7" "94285301" "94285301" "subst" "0" "00006" "SGCE_000063" "g.94285301C>A" "" "{PMID:Chung 2007:17394247}, {DOI:Chung 2007:10.1002/mds.21093}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94655989C>A" "" "pathogenic (paternal)" "" "0000163902" "0" "90" "7" "94248264" "94248264" "dup" "0" "01741" "SGCE_000065" "g.94248264dup" "" "" "" "470dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94618952dup" "" "pathogenic (paternal)" "" "0000222846" "0" "90" "7" "94259059" "94259059" "del" "0" "01741" "SGCE_000066" "g.94259059del" "" "" "" "208delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94629747del" "" "pathogenic (paternal)" "" "0000223310" "0" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "00430" "SGCE_000001" "g.94257615G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94628303G>A" "" "pathogenic (paternal)" "" "0000223311" "0" "10" "7" "94252752" "94252752" "subst" "0.162446" "00430" "SGCE_000027" "g.94252752T>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94623440T>G" "" "benign" "" "0000223312" "0" "90" "7" "94232718" "94232718" "subst" "0" "00430" "SGCE_000029" "g.94232718G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94603406G>A" "" "pathogenic (paternal)" "" "0000223313" "0" "10" "7" "94252712" "94252712" "subst" "0.0196702" "00430" "SGCE_000050" "g.94252712A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94623400A>G" "" "benign" "" "0000223314" "0" "50" "7" "94259173" "94259173" "subst" "0" "00430" "SGCE_000057" "g.94259173A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94629861A>G" "" "VUS" "" "0000223315" "0" "90" "7" "94257662" "94257662" "del" "0" "00430" "SGCE_000058" "g.94257662del" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94628350del" "" "pathogenic (paternal)" "" "0000223316" "0" "90" "7" "94230115" "94230115" "dup" "0" "00430" "SGCE_000059" "g.94230115dup" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.94600803dup" "" "pathogenic (paternal)" "" "0000224598" "1" "10" "7" "94286472" "94286472" "subst" "0" "00006" "SGCE_000021" "g.94286472A>G" "" "{PMID:Grabowski:12634861}" "" "-1062A>G" "variant promoter region" "Germline" "" "" "0" "" "" "g.94657160A>G" "" "benign" "" "0000224599" "1" "10" "7" "94286477" "94286477" "subst" "0" "00006" "SGCE_000022" "g.94286477A>G" "" "{PMID:Grabowski:12634861}" "" "-1067A>G" "variant promoter region" "Germline" "" "" "0" "" "" "g.94657165A>G" "" "benign" "" "0000224600" "1" "10" "7" "94286321" "94286321" "subst" "0" "00006" "SGCE_000025" "g.94286321C>G" "" "{PMID:Grabowski:12634861}" "" "911C/G" "variant promoter region" "Germline" "" "" "0" "" "" "g.94657009C>G" "" "benign" "" "0000224601" "1" "90" "7" "94214810" "94285411" "" "0" "00006" "SGCE_000026" "g.(?_94214810)_(94285411_?)del" "" "{PMID:DeBerardinis:12900898}" "" "" "deletion 9-15 Mb" "Germline" "" "" "0" "" "" "" "" "pathogenic (paternal)" "" "0000224602" "1" "10" "7" "94285357" "94285357" "subst" "0" "00006" "SGCE_000052" "g.94285357C>T" "9/384" "{PMID:Valente 2005:15728306}" "" "" "" "Germline" "" "" "0" "" "" "g.94656045C>T" "" "benign" "" "0000224603" "1" "10" "7" "94259117" "94259117" "subst" "0" "00006" "SGCE_000016" "g.94259117T>C" "0.08" "" "" "" "database comparison" "Germline" "" "" "0" "" "" "g.94629805T>C" "" "benign" "" "0000224604" "1" "90" "7" "94259100" "94259100" "del" "0" "00006" "SGCE_000020" "g.94259100del" "" "{PMID:Hedrich 2004:15079037}" "" "" "" "Germline" "" "" "0" "" "" "g.94629788del" "" "pathogenic (paternal)" "" "0000224605" "1" "90" "7" "94259084" "94259084" "subst" "0" "00006" "SGCE_000036" "g.94259084T>G" "" "{PMID:Hedrich 2004:15079037}, {PMID:Gerrits 2006:16534121}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.94629772T>G" "" "pathogenic (paternal)" "" "0000224606" "1" "90" "7" "94259084" "94259084" "subst" "0" "00006" "SGCE_000019" "g.94259084T>C" "" "{PMID:Schule 2004:15258227}" "" "" "" "Germline" "" "" "0" "" "" "g.94629772T>C" "" "pathogenic (paternal)" "" "0000224607" "11" "90" "7" "94259055" "94259055" "subst" "0" "00006" "SGCE_000042" "g.94259055C>A" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94629743C>A" "" "pathogenic (paternal)" "" "0000224608" "1" "90" "7" "94259042" "94259042" "del" "0" "00006" "SGCE_000047" "g.94259042del" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94629730del" "" "pathogenic (paternal)" "" "0000224609" "1" "90" "7" "94259030" "94259030" "subst" "0" "00006" "SGCE_000032" "g.94259030C>T" "" "Subm. Marechal" "" "" "" "Germline" "" "" "0" "" "" "g.94629718C>T" "" "pathogenic (paternal)" "" "0000224610" "11" "90" "7" "94259030" "94259030" "subst" "0" "00006" "SGCE_000032" "g.94259030C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94629718C>T" "" "pathogenic (paternal)" "" "0000224611" "11" "90" "7" "94259029" "94259029" "subst" "0" "00006" "SGCE_000039" "g.94259029A>G" "" "{PMID:Tezenas 2005:16227522}" "" "" "RNA fibroblast" "Germline" "" "" "0" "" "" "g.94629717A>G" "" "pathogenic (paternal)" "" "0000224612" "1" "50" "7" "94259031" "94259031" "subst" "0" "00006" "SGCE_000034" "g.94259031C>A" "" "Subm. Marechal" "" "" "" "Germline" "" "" "0" "" "" "g.94629719C>A" "" "VUS" "" "0000224613" "1" "90" "7" "94257672" "94257672" "subst" "0" "00006" "SGCE_000006" "g.94257672C>T" "" "{PMID:Cif:15197720}" "" "" "" "Germline" "" "" "0" "" "" "g.94628360C>T" "" "pathogenic (paternal)" "" "0000224614" "1" "90" "7" "94257672" "94257672" "subst" "0" "00006" "SGCE_000006" "g.94257672C>T" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94628360C>T" "" "pathogenic (paternal)" "" "0000224615" "11" "90" "7" "94257672" "94257672" "subst" "0" "00006" "SGCE_000040" "g.94257672C>A" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94628360C>A" "" "pathogenic (paternal)" "" "0000224616" "1" "90" "7" "94257629" "94257629" "subst" "0" "00006" "SGCE_000045" "g.94257629A>G" "" "{PMID:Tezenas 2005:16227522}" "" "274T>C" "" "Germline" "" "" "0" "" "" "g.94628317A>G" "" "pathogenic (paternal)" "" "0000224617" "1" "90" "7" "94257628" "94257628" "del" "0" "00006" "SGCE_000007" "g.94257628del" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94628316del" "" "pathogenic (paternal)" "" "0000224618" "11" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "00006" "SGCE_000001" "g.94257615G>A" "" "{PMID:Valente 2005:15728306}, {OMIM604149:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.94628303G>A" "" "pathogenic (paternal)" "" "0000224619" "1" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "00006" "SGCE_000001" "g.94257615G>A" "" "{PMID:Zimprich:11528394}, {OMIM604149:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.94628303G>A" "" "pathogenic (paternal)" "" "0000224620" "11" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "00006" "SGCE_000001" "g.94257615G>A" "" "{PMID:Valente 2005:15728306}, {OMIM604149:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.94628303G>A" "" "pathogenic (paternal)" "" "0000224621" "1" "90" "7" "94257604" "94257604" "subst" "0" "00006" "SGCE_000033" "g.94257604C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94628292C>T" "" "pathogenic (paternal)" "" "0000224622" "11" "90" "7" "94257604" "94257604" "subst" "0" "00006" "SGCE_000033" "g.94257604C>T" "" "{PMID:Tezenas 2005:16227522}, {DB: Marechal}" "" "" "" "Germline" "" "" "0" "" "" "g.94628292C>T" "" "pathogenic (paternal)" "" "0000224623" "1" "90" "7" "94257604" "94257604" "subst" "0" "00006" "SGCE_000033" "g.94257604C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94628292C>T" "" "pathogenic (paternal)" "" "0000224624" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Han:12874409}, {OMIM604149:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224625" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Zimprich:11528394}, {OMIM604149:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224626" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Hedrich 2004:15079037}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224627" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Zimprich:11528394}, {OMIM604149:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224628" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Han:12874409}, {OMIM604149:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224629" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224630" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224631" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224632" "1" "90" "7" "94257600" "94257600" "subst" "0" "00006" "SGCE_000002" "g.94257600G>A" "" "{PMID:Hedrich 2004:15079037}, {PMID:Gerrits 2006:16534121}" "" "" "" "Germline" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000224633" "11" "90" "7" "94257560" "94257560" "subst" "0" "00006" "SGCE_000044" "g.94257560T>C" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94628248T>C" "" "pathogenic (paternal)" "" "0000224634" "1" "10" "7" "0" "0" "" "0" "00006" "SGCE_000017" "g.?" "" "{PMID:McNally:09475163}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000224635" "1" "50" "7" "94252712" "94252712" "subst" "0.0196702" "00006" "SGCE_000050" "g.94252712A>G" "" "{PMID:Valente 2005:15728306}" "" "" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.94623400A>G" "" "VUS" "" "0000224636" "1" "10" "7" "94252751" "94252751" "subst" "9.33349E-6" "00006" "SGCE_000053" "g.94252751T>G" "65/384" "{PMID:Valente 2005:15728306}" "" "" "" "Germline" "" "" "0" "" "" "g.94623439T>G" "" "benign" "" "0000224637" "1" "50" "7" "94252752" "94252752" "subst" "0.162446" "00006" "SGCE_000027" "g.94252752T>G" "" "{PMID:Kock:14978685}" "" "" "" "Germline" "" "" "0" "" "" "g.94623440T>G" "" "VUS" "" "0000224638" "1" "10" "7" "94252788" "94252788" "subst" "0" "00006" "SGCE_000054" "g.94252788C>A" "9/384" "{PMID:Valente 2005:15728306}" "" "391-78G>T" "" "Germline" "" "" "0" "" "" "g.94623476C>A" "" "benign" "" "0000224639" "1" "90" "7" "94252695" "94252791" "del" "0" "00006" "SGCE_000004" "g.94252695_94252791del" "" "{PMID:Zimprich:11528394}, {OMIM604149:0004}" "" "391-82_405del97" "" "Germline" "" "" "0" "" "" "g.94623383_94623479del" "" "pathogenic (paternal)" "" "0000224640" "1" "90" "7" "94252657" "94252660" "del" "0" "00006" "SGCE_000030" "g.94252657_94252660del" "" "{PMID:Marechal:12707948}" "AseI-" "484_487del (incorrect)" "" "Germline" "" "" "0" "" "" "g.94623345_94623348del" "" "pathogenic (paternal)" "" "0000224641" "1" "90" "7" "94252657" "94252660" "del" "0" "00006" "SGCE_000030" "g.94252657_94252660del" "" "{PMID:Tezenas 2005:16227522}" "AseI-" "" "" "Germline" "" "" "0" "" "" "g.94623345_94623348del" "" "pathogenic (paternal)" "" "0000224642" "1" "90" "7" "94252657" "94252660" "del" "0" "00006" "SGCE_000030" "g.94252657_94252660del" "" "{PMID:Tezenas 2005:16227522}" "AseI-" "" "" "Germline" "" "" "0" "" "" "g.94623345_94623348del" "" "pathogenic (paternal)" "" "0000224643" "1" "50" "7" "94252631" "94252631" "subst" "4.16292E-6" "00006" "SGCE_000009" "g.94252631A>G" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94623319A>G" "" "VUS" "" "0000224644" "11" "90" "7" "94233568" "94248587" "del" "0" "00006" "SGCE_000037" "g.94233568_94248587del" "" "{PMID:Asmus 2005:16240355}, {OMIM604149:0010}" "" "" "15.0 kb deletion exon 5; blood RNA SGCE 50%" "Germline" "" "" "0" "" "" "g.94604256_94619275del" "" "pathogenic (paternal)" "" "0000224645" "11" "90" "7" "94248156" "94248168" "del" "0" "00006" "SGCE_000051" "g.94248156_94248168del" "" "{PMID:Valente 2005:15728306}" "" "" "" "Germline" "" "" "0" "" "" "g.94618844_94618856del" "" "pathogenic (paternal)" "" "0000224646" "1" "90" "7" "94248170" "94248170" "del" "0" "00006" "SGCE_000003" "g.94248170del" "" "{PMID:Zimprich:11528394}, {OMIM604149:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.94618858del" "" "pathogenic (paternal)" "" "0000224647" "1" "90" "7" "94248160" "94248160" "subst" "0" "00006" "SGCE_000031" "g.94248160C>T" "" "Subm. Marechal" "" "" "" "Germline" "" "" "0" "" "" "g.94618848C>T" "" "pathogenic (paternal)" "" "0000224648" "1" "90" "7" "94248145" "94248145" "subst" "0" "00006" "SGCE_000013" "g.94248145A>C" "" "{PMID:Klein:12402271}, {PMID:Doheny:12391355} {OMIM604149:0006}" "" "" "in combination with DYT1:c.967_984del; not found in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.94618833A>C" "" "pathogenic (paternal)" "" "0000224649" "1" "90" "7" "94248112" "94248113" "del" "0" "00006" "SGCE_000035" "g.94248112_94248113del" "" "{PMID:Gerrits 2006:16534121}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.94618800_94618801del" "" "pathogenic (paternal)" "" "0000224650" "1" "90" "7" "94248107" "94248107" "dup" "0" "00006" "SGCE_000023" "g.94248107dup" "" "{PMID:Muller:12444570}, {PMID:Kock:14978685}" "" "" "" "Germline" "" "" "0" "" "" "g.94618795dup" "" "pathogenic (paternal)" "" "0000224651" "11" "90" "7" "94232058" "94238879" "del" "0" "00006" "SGCE_000038" "g.94232058_94238879del" "" "{PMID:Asmus 2005:16240355}, {OMIM604149:0011}" "" "" "6.9 kb deletion exon 6; blood SGCE mRNA 50%" "Germline" "" "" "0" "" "" "g.94602746_94609567del" "" "pathogenic (paternal)" "" "0000224652" "1" "90" "7" "94232718" "94232718" "subst" "0" "00006" "SGCE_000029" "g.94232718G>A" "" "Subm. Marechal" "" "" "" "Germline" "" "" "0" "" "" "g.94603406G>A" "" "pathogenic (paternal)" "" "0000224653" "1" "90" "7" "94232718" "94232718" "subst" "0" "00006" "SGCE_000029" "g.94232718G>A" "" "{PMID:Doheny:12391346}" "" "" "" "Germline" "" "" "0" "" "" "g.94603406G>A" "" "pathogenic (paternal)" "" "0000224654" "1" "90" "7" "94232690" "94232693" "del" "0" "00006" "SGCE_000010" "g.94232690_94232693del" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94603378_94603381del" "" "pathogenic (paternal)" "" "0000224655" "1" "90" "7" "94232683" "94232686" "dup" "0" "00006" "SGCE_000046" "g.94232683_94232686dup" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94603371_94603374dup" "" "pathogenic (paternal)" "" "0000224656" "1" "90" "7" "94232619" "94232619" "subst" "0" "00006" "SGCE_000056" "g.94232619A>G" "" "{PMID:Gerrits 2006:16534121}" "" "" "" "Germline" "" "" "0" "" "" "g.94603307A>G" "" "pathogenic (paternal)" "" "0000224657" "1" "90" "7" "94232615" "94232615" "subst" "0" "00006" "SGCE_000043" "g.94232615C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94603303C>T" "" "pathogenic (paternal)" "" "0000224658" "1" "90" "7" "94232601" "94232601" "subst" "0" "00006" "SGCE_000005" "g.94232601C>T" "" "{PMID:Zimprich:11528394}" "" "" "" "Germline" "" "" "0" "" "" "g.94603289C>T" "" "pathogenic (paternal)" "" "0000224659" "1" "90" "7" "94229956" "94229956" "subst" "0" "00006" "SGCE_000055" "g.94229956A>G" "" "{PMID:Gerrits 2006:16534121}" "" "" "" "Germline" "" "" "0" "" "" "g.94600644A>G" "" "pathogenic (paternal)" "" "0000224660" "1" "90" "7" "94229953" "94229953" "subst" "0" "00006" "SGCE_000011" "g.94229953C>T" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94600641C>T" "" "pathogenic (paternal)" "" "0000224661" "1" "90" "7" "94230159" "94230163" "del" "0" "00006" "SGCE_000012" "g.94230159_94230163del" "" "{PMID:Doheny:12391346}" "" "" "" "Germline" "" "" "0" "" "" "g.94600847_94600851del" "" "pathogenic (paternal)" "" "0000224662" "1" "90" "7" "94230159" "94230163" "del" "0" "00006" "SGCE_000012" "g.94230159_94230163del" "" "{PMID:Han:12874409}" "" "" "" "Germline" "" "" "0" "" "" "g.94600847_94600851del" "" "pathogenic (paternal)" "" "0000224663" "1" "90" "7" "94230159" "94230163" "del" "0" "00006" "SGCE_000012" "g.94230159_94230163del" "" "{PMID:Klein:12402271}, {OMIM604149:0005}" "" "" "in combination with DRD2:c.460G>A (p.Val154Ile)" "Germline" "" "" "0" "" "" "g.94600847_94600851del" "" "pathogenic (paternal)" "" "0000224664" "11" "90" "7" "94230159" "94230163" "del" "0" "00006" "SGCE_000012" "g.94230159_94230163del" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94600847_94600851del" "" "pathogenic (paternal)" "" "0000224665" "1" "90" "7" "94230139" "94230139" "subst" "0" "00006" "SGCE_000008" "g.94230139G>A" "" "{PMID:Asmus:12325078}" "" "" "" "Germline" "" "" "0" "" "" "g.94600827G>A" "" "pathogenic (paternal)" "" "0000224666" "1" "90" "7" "94230139" "94230139" "subst" "0" "00006" "SGCE_000008" "g.94230139G>A" "" "{PMID:Gerrits 2006:16534121}" "" "" "" "Germline" "" "" "0" "" "" "g.94600827G>A" "" "pathogenic (paternal)" "" "0000224667" "1" "90" "7" "94230114" "94230114" "dup" "0" "00006" "SGCE_000024" "g.94230114dup" "" "{PMID:Foncke:12821748}, {PMID:Doheny:12391346}, {OMIM604149:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.94600802dup" "" "pathogenic (paternal)" "" "0000224668" "1" "90" "7" "94230114" "94230114" "dup" "0" "00006" "SGCE_000024" "g.94230114dup" "" "{PMID:Gerrits 2006:16534121}" "" "" "" "Germline" "" "" "0" "" "" "g.94600802dup" "" "pathogenic (paternal)" "" "0000224669" "1" "90" "7" "94230029" "94230029" "del" "0" "00006" "SGCE_000018" "g.94230029del" "" "{PMID:Muller:12444570}" "" "" "RNA expression paternal allele only" "Germline" "" "" "0" "" "" "g.94600717del" "" "pathogenic (paternal)" "" "0000224670" "1" "90" "7" "94230029" "94230029" "del" "0" "00006" "SGCE_000018" "g.94230029del" "" "{PMID:Schule 2004:15258227}" "" "" "" "Germline" "" "" "0" "" "" "g.94600717del" "" "pathogenic (paternal)" "" "0000224671" "1" "90" "7" "94230021" "94230021" "del" "0" "00006" "SGCE_000028" "g.94230021del" "" "{PMID:Hjermind:12743249}, {OMIM604149:0008}" "" "" "" "Germline" "" "" "0" "" "" "g.94600709del" "" "pathogenic (paternal)" "" "0000224672" "11" "90" "7" "94228226" "94228226" "subst" "0" "00006" "SGCE_000041" "g.94228226G>A" "" "{PMID:Valente 2005:15728306}, {OMIM604149:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.94598914G>A" "" "pathogenic (paternal)" "" "0000224673" "11" "90" "7" "94228226" "94228226" "subst" "0" "00006" "SGCE_000041" "g.94228226G>A" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94598914G>A" "" "pathogenic (paternal)" "" "0000224674" "1" "90" "7" "94228226" "94228226" "subst" "0" "00006" "SGCE_000041" "g.94228226G>A" "" "{PMID:Valente 2005:15728306}, {OMIM604149:0009}" "" "" "" "Germline" "" "" "0" "" "" "g.94598914G>A" "" "pathogenic (paternal)" "" "0000224675" "1" "50" "7" "94227275" "94227276" "delins" "0" "00399" "SGCE_000015" "g.94227275_94227276delinsTG" "" "" "" "[1253+811A>C;1253+812G>A]" "" "Germline" "" "" "0" "" "" "g.94597963_94597964delinsTG" "" "VUS" "" "0000224676" "1" "10" "7" "94227276" "94227276" "subst" "0.669023" "00399" "SGCE_000014" "g.94227276T>G" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "rs10247562" "0" "" "" "g.94597964T>G" "" "benign" "" "0000224677" "1" "10" "7" "94227275" "94227275" "subst" "0.01772" "00006" "SGCE_000048" "g.94227275C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94597963C>T" "" "benign" "" "0000224678" "1" "10" "7" "94227273" "94227273" "subst" "0.00629139" "00006" "SGCE_000049" "g.94227273C>T" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "" "0" "" "" "g.94597961C>T" "" "benign" "" "0000224679" "1" "10" "7" "94286477" "94286477" "subst" "0" "00006" "SGCE_000022" "g.94286477A>G" "7/242" "{PMID:Muller:12444570}" "" "-1067A>G" "variant promoter region" "Germline" "" "" "0" "" "" "g.94657165A>G" "" "benign" "" "0000224680" "1" "10" "7" "94227276" "94227276" "subst" "0.669023" "00006" "SGCE_000014" "g.94227276T>G" "" "{PMID:Tezenas 2005:16227522}" "" "" "" "Germline" "" "rs10247562" "0" "" "" "g.94597964T>G" "" "benign" "" "0000246631" "0" "10" "7" "94227331" "94227331" "del" "0" "02330" "SGCE_000069" "g.94227331del" "" "" "" "SGCE(NM_001099401.2):c.1254-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94598019del" "" "benign" "" "0000249547" "0" "30" "7" "94259027" "94259027" "subst" "2.84726E-5" "02325" "SGCE_000072" "g.94259027A>G" "" "" "" "SGCE(NM_001099401.2):c.232+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94629715A>G" "" "likely benign" "" "0000295793" "0" "10" "7" "94227276" "94227276" "subst" "0.669023" "02330" "SGCE_000014" "g.94227276T>G" "" "" "" "SGCE(NM_001099401.2):c.1294A>C (p.S432R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597964T>G" "" "benign" "" "0000298176" "0" "10" "7" "94227276" "94227276" "subst" "0.669023" "02325" "SGCE_000014" "g.94227276T>G" "" "" "" "SGCE(NM_001099401.2):c.1294A>C (p.S432R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597964T>G" "" "benign" "" "0000298177" "0" "30" "7" "94227275" "94227275" "subst" "0.01772" "02325" "SGCE_000048" "g.94227275C>T" "" "" "" "SGCE(NM_001099400.1):c.1226+812G>A (p.(=)), SGCE(NM_001099401.2):c.1295G>A (p.S432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597963C>T" "" "likely benign" "" "0000298178" "0" "30" "7" "94227273" "94227273" "subst" "0.00629139" "02325" "SGCE_000049" "g.94227273C>T" "" "" "" "SGCE(NM_001099401.1):c.1297G>A (p.(Asp433Asn)), SGCE(NM_001099401.2):c.1297G>A (p.D433N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597961C>T" "" "likely benign" "" "0000307995" "0" "50" "7" "94228183" "94228183" "subst" "4.87841E-5" "01943" "SGCE_000079" "g.94228183G>C" "" "" "" "SGCE(NM_001099401.1):c.1157C>G (p.T386R), SGCE(NM_003919.2):c.1157C>G (p.(Thr386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94598871G>C" "" "VUS" "" "0000307996" "0" "50" "7" "94217116" "94217116" "subst" "0" "01943" "SGCE_000068" "g.94217116G>A" "" "" "" "SGCE(NM_001099400.1):c.1279C>T (p.R427C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94587804G>A" "" "VUS" "" "0000307997" "0" "50" "7" "94259121" "94259121" "subst" "1.63115E-5" "01943" "SGCE_000073" "g.94259121G>A" "" "" "" "SGCE(NM_001099401.1):c.142C>T (p.R48W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94629809G>A" "" "VUS" "" "0000307998" "0" "50" "7" "94252709" "94252709" "subst" "0.000181015" "01943" "SGCE_000071" "g.94252709T>C" "" "" "" "SGCE(NM_001099400.1):c.391A>G (p.(Ile131Val)), SGCE(NM_001099401.1):c.391A>G (p.I131V), SGCE(NM_003919.3):c.391A>G (p.I131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94623397T>C" "" "VUS" "" "0000331698" "0" "30" "7" "94227273" "94227273" "subst" "0.00629139" "01804" "SGCE_000049" "g.94227273C>T" "" "" "" "SGCE(NM_001099401.1):c.1297G>A (p.(Asp433Asn)), SGCE(NM_001099401.2):c.1297G>A (p.D433N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597961C>T" "" "likely benign" "" "0000331699" "0" "30" "7" "94227275" "94227275" "subst" "0.01772" "01804" "SGCE_000048" "g.94227275C>T" "" "" "" "SGCE(NM_001099400.1):c.1226+812G>A (p.(=)), SGCE(NM_001099401.2):c.1295G>A (p.S432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597963C>T" "" "likely benign" "" "0000331701" "0" "50" "7" "94252654" "94252654" "subst" "0" "01804" "SGCE_000070" "g.94252654T>G" "" "" "" "SGCE(NM_001099401.1):c.446A>C (p.(Asn149Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94623342T>G" "" "VUS" "" "0000331702" "0" "50" "7" "94252709" "94252709" "subst" "0.000181015" "01804" "SGCE_000071" "g.94252709T>C" "" "" "" "SGCE(NM_001099400.1):c.391A>G (p.(Ile131Val)), SGCE(NM_001099401.1):c.391A>G (p.I131V), SGCE(NM_003919.3):c.391A>G (p.I131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94623397T>C" "" "VUS" "" "0000336561" "0" "90" "7" "94259105" "94259105" "subst" "0" "00006" "SGCE_000067" "g.94259105G>C" "" "{PMID:Rocha 2016:26810467}, {DOI:Rocha 2016:10.1016/j.jocn.2015.08.034}" "" "158C>D" "" "Germline" "" "" "0" "" "" "g.94629793G>C" "" "pathogenic (paternal)" "" "0000341889" "0" "90" "7" "94257600" "94257600" "subst" "0" "02327" "SGCE_000002" "g.94257600G>A" "" "" "" "SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94628288G>A" "" "pathogenic" "" "0000344339" "0" "90" "7" "94232614" "94232614" "subst" "0" "02327" "SGCE_000077" "g.94232614G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94603302G>T" "" "pathogenic" "" "0000347145" "0" "90" "7" "94228138" "94228138" "subst" "0" "02327" "SGCE_000075" "g.94228138A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94598826A>T" "" "pathogenic" "" "0000349008" "0" "10" "7" "94227276" "94227276" "subst" "0.669023" "02327" "SGCE_000014" "g.94227276T>G" "" "" "" "SGCE(NM_001099401.2):c.1294A>C (p.S432R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597964T>G" "" "benign" "" "0000349009" "0" "30" "7" "94227275" "94227275" "subst" "0.01772" "02327" "SGCE_000048" "g.94227275C>T" "" "" "" "SGCE(NM_001099400.1):c.1226+812G>A (p.(=)), SGCE(NM_001099401.2):c.1295G>A (p.S432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94597963C>T" "" "likely benign" "" "0000349486" "0" "50" "7" "94228183" "94228183" "subst" "2.84574E-5" "02327" "SGCE_000076" "g.94228183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94598871G>A" "" "VUS" "" "0000368951" "0" "70" "7" "94252710" "94252710" "subst" "0" "01807" "SGCE_000081" "g.94252710C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94623398C>G" "" "likely pathogenic (paternal)" "" "0000369317" "0" "90" "7" "94232616" "94232617" "del" "0" "01807" "SGCE_000080" "g.94232616_94232617del" "" "" "" "811_812delTG" "" "Unknown" "" "" "0" "" "" "g.94603304_94603305del" "" "pathogenic (paternal)" "" "0000472246" "11" "90" "7" "94285390" "94285390" "subst" "9.38201E-5" "01261" "SGCE_000082" "g.94285390C>T" "" "{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}" "" "" "" "Germline" "" "" "0" "" "" "g.94656078C>T" "" "pathogenic (paternal)" "" "0000533125" "0" "30" "7" "94228199" "94228199" "subst" "4.06656E-6" "01804" "SGCE_000085" "g.94228199C>G" "" "" "" "SGCE(NM_001099400.1):c.1114G>C (p.(Ala372Pro)), SGCE(NM_001099401.2):c.1141G>C (p.A381P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94598887C>G" "" "likely benign" "" "0000533126" "0" "50" "7" "94229980" "94229980" "subst" "0" "02325" "SGCE_000086" "g.94229980T>C" "" "" "" "SGCE(NM_001099401.2):c.1015A>G (p.M339V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94600668T>C" "" "VUS" "" "0000533127" "0" "90" "7" "94232655" "94232656" "del" "0" "02325" "SGCE_000087" "g.94232655_94232656del" "" "" "" "SGCE(NM_001099401.2):c.771_772delAT (p.C258*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94603343_94603344del" "" "pathogenic" "" "0000533129" "0" "70" "7" "94248181" "94248181" "subst" "0" "02325" "SGCE_000089" "g.94248181A>G" "" "" "" "SGCE(NM_001099401.2):c.551T>C (p.L184P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94618869A>G" "" "likely pathogenic" "" "0000533130" "0" "30" "7" "94252690" "94252690" "subst" "0.000319476" "01804" "SGCE_000090" "g.94252690C>T" "" "" "" "SGCE(NM_001099400.1):c.410G>A (p.(Arg137His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94623378C>T" "" "likely benign" "" "0000533131" "0" "30" "7" "94252712" "94252712" "subst" "0.0196702" "01804" "SGCE_000050" "g.94252712A>G" "" "" "" "SGCE(NM_001099400.1):c.391-3T>C (p.?), SGCE(NM_003919.3):c.391-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94623400A>G" "" "likely benign" "" "0000533132" "0" "70" "7" "94257603" "94257603" "subst" "0" "02327" "SGCE_000091" "g.94257603G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94628291G>A" "" "likely pathogenic" "" "0000533133" "0" "30" "7" "94257614" "94257614" "subst" "8.16967E-6" "01804" "SGCE_000092" "g.94257614C>T" "" "" "" "SGCE(NM_001099400.1):c.290G>A (p.(Arg97Gln)), SGCE(NM_003919.3):c.290G>A (p.R97Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94628302C>T" "" "likely benign" "" "0000533134" "0" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "02325" "SGCE_000001" "g.94257615G>A" "" "" "" "SGCE(NM_001346719.2):c.202C>T (p.R68*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94628303G>A" "" "pathogenic" "" "0000533135" "0" "50" "7" "94259115" "94259115" "subst" "0" "02325" "SGCE_000093" "g.94259115C>T" "" "" "" "SGCE(NM_001099401.2):c.148G>A (p.V50I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94629803C>T" "" "VUS" "" "0000611335" "0" "30" "7" "94232711" "94232711" "subst" "4.07498E-6" "02327" "SGCE_000094" "g.94232711A>G" "" "" "" "SGCE(NM_003919.3):c.716T>C (p.(Val239Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94603399A>G" "" "likely benign" "" "0000611336" "0" "90" "7" "94252708" "94252708" "subst" "0" "02327" "SGCE_000095" "g.94252708A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94623396A>T" "" "pathogenic" "" "0000611337" "0" "50" "7" "94259078" "94259078" "subst" "0" "02327" "SGCE_000096" "g.94259078A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94629766A>C" "" "VUS" "" "0000652376" "1" "90" "7" "94257600" "94257600" "subst" "0" "03575" "SGCE_000002" "g.94257600G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908490}" "Germline" "" "rs121908490" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "" "0000653360" "0" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "01164" "SGCE_000001" "g.94257615G>A" "" "" "" "" "ACMG: PVS1,PM2,PP1; Zimprich et al. 2001. Nat Genet 29: 66; O\'Riordan et al. 2004. Mov Disord 19: 1456" "Germline" "" "rs121908489" "0" "" "" "g.94628303G>A" "" "pathogenic (paternal)" "ACMG" "0000653435" "0" "90" "7" "94257600" "94257600" "subst" "0" "01164" "SGCE_000002" "g.94257600G>A" "" "" "" "" "ACMG: PVS1,PM2,PP1,PP5; Zimprich et al. 2001. Nature Genetics 29: 66" "Germline" "" "rs121908490" "0" "" "" "g.94628288G>A" "" "pathogenic (paternal)" "ACMG" "0000655935" "0" "50" "7" "94248197" "94248197" "subst" "4.07276E-6" "02325" "SGCE_000097" "g.94248197C>A" "" "" "" "SGCE(NM_001346719.2):c.448G>T (p.V150F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94618885C>A" "" "VUS" "" "0000655937" "0" "90" "7" "94259029" "94259029" "subst" "0" "02325" "SGCE_000039" "g.94259029A>G" "" "" "" "SGCE(NM_003919.3):c.232+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94629717A>G" "" "pathogenic" "" "0000655939" "0" "50" "7" "94268733" "94268733" "subst" "0" "01943" "SGCE_000098" "g.94268733A>G" "" "" "" "SGCE(NM_001346713.1):c.137T>C (p.I46T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94639421A>G" "" "VUS" "" "0000674725" "0" "90" "7" "94232655" "94232656" "del" "0" "01164" "SGCE_000087" "g.94232655_94232656del" "" "" "" "" "ACMG grading: PVS1,PS4,PM2" "Germline" "" "rs794727794" "0" "" "" "" "" "pathogenic" "ACMG" "0000678227" "0" "30" "7" "94230020" "94230020" "subst" "0.000273019" "02325" "SGCE_000099" "g.94230020C>T" "" "" "" "SGCE(NM_001346719.2):c.888G>A (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678228" "0" "90" "7" "94230083" "94230083" "del" "0" "02325" "SGCE_000100" "g.94230083del" "" "" "" "SGCE(NM_003919.3):c.913delT (p.S305Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000683668" "0" "90" "7" "94232655" "94232656" "del" "0" "00006" "SGCE_000087" "g.94232655_94232656del" "" "{PMID:Mahler 2019:31056085}" "" "771_772delAT" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704078" "0" "70" "7" "94229953" "94229953" "subst" "0" "01164" "SGCE_000102" "g.94229953C>G" "" "PMID: 19117361; 12325078; 23677909; 23284065; 23748201" "" "" "ACMG: PS4_moderat, PM2, PP1, PP3; class 4" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000721616" "0" "50" "7" "94228199" "94228199" "subst" "4.06656E-6" "02329" "SGCE_000085" "g.94228199C>G" "" "" "" "SGCE(NM_001099400.1):c.1114G>C (p.(Ala372Pro)), SGCE(NM_001099401.2):c.1141G>C (p.A381P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721617" "0" "90" "7" "94230115" "94230115" "dup" "0" "02329" "SGCE_000059" "g.94230115dup" "" "" "" "SGCE(NM_001099401.2):c.880dupA (p.I294Nfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721618" "0" "90" "7" "94259030" "94259030" "subst" "0" "02329" "SGCE_000032" "g.94259030C>T" "" "" "" "SGCE(NM_001346719.2):c.145+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721619" "0" "70" "7" "94285334" "94285334" "del" "0" "01943" "PEG10_000005" "g.94285334del" "" "" "" "SGCE(NM_001346713.1):c.77delG (p.S26Tfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721620" "0" "50" "7" "94285409" "94285409" "subst" "4.08547E-6" "02329" "PEG10_000003" "g.94285409A>G" "" "" "" "SGCE(NM_001099401.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787400" "0" "50" "7" "94252632" "94252632" "subst" "4.16018E-6" "00006" "SGCE_000103" "g.94252632C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1210401434" "0" "" "" "g.94623320C>T" "" "VUS" "" "0000803312" "0" "30" "7" "94218055" "94218057" "del" "0" "01943" "SGCE_000104" "g.94218055_94218057del" "" "" "" "SGCE(NM_001346719.1):c.1167-9_1167-7delCAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851726" "0" "90" "7" "94230041" "94230041" "dup" "0" "02327" "SGCE_000105" "g.94230041dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851727" "0" "30" "7" "94268657" "94268657" "subst" "0" "01943" "SGCE_000108" "g.94268657T>C" "" "" "" "SGCE(NM_001346719.1):c.18A>G (p.K6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851728" "0" "90" "7" "94285300" "94285300" "subst" "0" "02327" "PEG10_000006" "g.94285300A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851729" "0" "50" "7" "94285307" "94285307" "subst" "0" "02329" "PEG10_000007" "g.94285307A>T" "" "" "" "SGCE(NM_001346713.2):c.104T>A (p.L35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860975" "0" "90" "7" "94232655" "94232656" "del" "0" "02327" "SGCE_000087" "g.94232655_94232656del" "" "" "" "SGCE(NM_001099401.2):c.771_772delAT (p.C258*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860976" "0" "90" "7" "94232758" "94232758" "del" "0" "02325" "SGCE_000106" "g.94232758del" "" "" "" "SGCE(NM_003919.3):c.669delT (p.Y223*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000860977" "0" "50" "7" "94257647" "94257647" "subst" "0" "02327" "SGCE_000107" "g.94257647G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888053" "0" "50" "7" "94248211" "94248211" "subst" "0" "02325" "SGCE_000109" "g.94248211A>C" "" "" "" "SGCE(NM_003919.3):c.521T>G (p.M174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888054" "0" "90" "7" "94257600" "94257600" "subst" "0" "02329" "SGCE_000002" "g.94257600G>A" "" "" "" "SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888055" "0" "50" "7" "94257614" "94257614" "subst" "8.16967E-6" "02325" "SGCE_000092" "g.94257614C>T" "" "" "" "SGCE(NM_001099400.1):c.290G>A (p.(Arg97Gln)), SGCE(NM_003919.3):c.290G>A (p.R97Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888056" "0" "50" "7" "94285386" "94285386" "subst" "0" "02325" "PEG10_000008" "g.94285386G>T" "" "" "" "SGCE(NM_001099401.2):c.25C>A (p.L9M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917165" "21" "50" "7" "94285395" "94285395" "subst" "0" "00006" "SGCE_000074" "g.94285395A>C" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.94656083A>C" "" "VUS" "" "0000924792" "0" "50" "7" "94252709" "94252709" "subst" "0.000181015" "02325" "SGCE_000071" "g.94252709T>C" "" "" "" "SGCE(NM_001099400.1):c.391A>G (p.(Ile131Val)), SGCE(NM_001099401.1):c.391A>G (p.I131V), SGCE(NM_003919.3):c.391A>G (p.I131V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929397" "0" "90" "7" "94248191" "94248191" "dup" "0" "02325" "SGCE_000110" "g.94248191dup" "" "" "" "SGCE(NM_003919.3):c.542dupG (p.D182Rfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936170" "21" "50" "7" "94285395" "94285395" "subst" "0" "00006" "SGCE_000074" "g.94285395A>C" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "" "0" "" "" "g.94656083A>C" "" "VUS" "" "0000948973" "0" "90" "7" "94248112" "94248113" "del" "0" "02327" "SGCE_000035" "g.94248112_94248113del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000972044" "11" "70" "7" "94232621" "94232621" "del" "0" "04614" "SGCE_000111" "g.94232621del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94603309del" "" "likely pathogenic (dominant)" "ACMG" "0000977914" "0" "50" "7" "94232711" "94232711" "subst" "4.07498E-6" "01804" "SGCE_000094" "g.94232711A>G" "" "" "" "SGCE(NM_003919.3):c.716T>C (p.(Val239Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977915" "0" "90" "7" "94257600" "94257600" "subst" "0" "02325" "SGCE_000002" "g.94257600G>A" "" "" "" "SGCE(NM_001346719.2):c.217C>T (p.R73*), SGCE(NM_003919.3):c.304C>T (p.R102*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996768" "0" "50" "7" "94228183" "94228183" "subst" "4.87841E-5" "01804" "SGCE_000079" "g.94228183G>C" "" "" "" "SGCE(NM_001099401.1):c.1157C>G (p.T386R), SGCE(NM_003919.2):c.1157C>G (p.(Thr386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996769" "0" "30" "7" "94232658" "94232658" "subst" "0.000715267" "01804" "SGCE_000112" "g.94232658T>G" "" "" "" "SGCE(NM_003919.2):c.769A>C (p.(Thr257Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996770" "0" "30" "7" "94285352" "94285352" "subst" "5.70972E-5" "01804" "PEG10_000009" "g.94285352C>T" "" "" "" "SGCE(NM_003919.2):c.59G>A (p.(Arg20Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014393" "0" "30" "7" "94252712" "94252712" "subst" "0.0196702" "02325" "SGCE_000050" "g.94252712A>G" "" "" "" "SGCE(NM_001099400.1):c.391-3T>C (p.?), SGCE(NM_003919.3):c.391-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025455" "0" "70" "7" "94229953" "94229953" "subst" "0" "02325" "SGCE_000011" "g.94229953C>T" "" "" "" "SGCE(NM_003919.3):c.1037+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001045464" "0" "90" "7" "94232767" "94232767" "subst" "0" "03544" "SGCE_000113" "g.94232767G>T" "" "" "" "" "familial segregation in multiple affected individuals in a single family; paternal lineage due to the maternal imprinting; deleterious effect on splicing confirmed by RNA analysis (nonsense-mediated decay and absent transcripts from mutated paternal allele)" "Germline" "yes" "" "0" "" "" "g.94603455G>T" "" "pathogenic (paternal)" "ACMG" "0001059145" "0" "90" "7" "94257615" "94257615" "subst" "4.0852E-6" "00006" "SGCE_000001" "g.94257615G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.94628303G>A" "" "pathogenic" "" ## 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 SGCE ## Count = 189 "{{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}}" "0000115916" "00025242" "90" "109" "1" "109" "1" "c.109+1G>T" "r.spl" "p.?" "1i" "0000115940" "00025242" "90" "233" "-1" "233" "-1" "c.233-1G>A" "r.spl" "p.?" "2i" "0000115944" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115945" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115946" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115947" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115948" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115949" "00025242" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Lys125Serfs*7)" "3" "0000115956" "00025242" "90" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Ile129Thr)" "3" "0000115957" "00025242" "90" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Ile129Thr)" "3" "0000115958" "00025242" "30" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Arg102Gln)" "3" "0000115959" "00025242" "90" "386" "0" "386" "0" "c.386T>C" "r.(?)" "p.(Ile129Thr)" "3" "0000163197" "00025242" "30" "390" "15" "390" "15" "c.390+15G>A" "r.(?)" "p.(=)" "3i" "0000163198" "00025242" "30" "390" "15" "390" "15" "c.390+15G>A" "r.(?)" "p.(=)" "3i" "0000163199" "00025242" "30" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Arg102Gln)" "3" "0000163200" "00025242" "90" "109" "1" "109" "1" "c.109+1G>T" "r.109_110insGins109+2_?" "p.?" "1i" "0000163902" "00025242" "90" "470" "0" "470" "0" "c.470dup" "r.(?)" "p.(Leu158Valfs*10)" "5" "0000222846" "00025242" "90" "208" "0" "208" "0" "c.208del" "r.(?)" "p.(Glu70Asnfs*16)" "2" "0000223310" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "3" "0000223311" "00025242" "10" "391" "-43" "391" "-43" "c.391-43A>C" "r.(?)" "p.(=)" "3i" "0000223312" "00025242" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237*)" "6" "0000223313" "00025242" "10" "391" "-3" "391" "-3" "c.391-3T>C" "r.(?)" "p.(=)" "3i" "0000223314" "00025242" "50" "110" "-20" "110" "-20" "c.110-20T>C" "r.(?)" "p.(=)" "1i" "0000223315" "00025242" "90" "242" "0" "242" "0" "c.242del" "r.(?)" "p.(Ser81Ilefs*5)" "3" "0000223316" "00025242" "90" "880" "0" "880" "0" "c.880dup" "r.(?)" "p.(Ile294Asnfs*4)" "7" "0000224598" "00025242" "10" "-1062" "0" "-1062" "0" "c.-1062T>C" "r.(?)" "p.(?)" "1" "0000224599" "00025242" "10" "-1067" "0" "-1067" "0" "c.-1067T>C" "r.(?)" "p.(?)" "1" "0000224600" "00025242" "10" "-911" "0" "-911" "0" "c.-911G>C" "r.(?)" "p.(?)" "1" "0000224601" "00025242" "90" "-1" "0" "1315" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000224602" "00025242" "10" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(=)" "1" "0000224603" "00025242" "10" "146" "0" "146" "0" "c.146A>G" "r.146a>g" "p.Asn49Ser" "2" "0000224604" "00025242" "90" "164" "0" "164" "0" "c.164del" "r.(?)" "p.Gly55Valfs*31" "2" "0000224605" "00025242" "90" "179" "0" "179" "0" "c.179A>C" "r.(?)" "p.(His60Pro)" "2" "0000224606" "00025242" "90" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(His60Arg)" "2" "0000224607" "00025242" "90" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Glu70*)" "2" "0000224608" "00025242" "90" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Tyr74Serfs*12)" "2" "0000224609" "00025242" "90" "232" "1" "232" "1" "c.232+1G>A" "r.spl?" "p.(?)" "2i" "0000224610" "00025242" "90" "232" "1" "232" "1" "c.232+1G>A" "r.spl?" "p.(?)" "2i" "0000224611" "00025242" "90" "232" "2" "232" "2" "c.232+2T>C" "r.110_232del" "p.Val37_Pro77del" "2i" "0000224612" "00025242" "50" "232" "0" "232" "0" "c.232G>T" "r.(spl?)" "p.(?)" "2" "0000224613" "00025242" "90" "233" "-1" "233" "-1" "c.233-1G>A" "r.spl?" "p.(?)" "2i" "0000224614" "00025242" "90" "233" "-1" "233" "-1" "c.233-1G>A" "r.spl?" "p.(?)" "2i" "0000224615" "00025242" "90" "233" "-1" "233" "-1" "c.233-1G>T" "r.spl?" "p.(?)" "2i" "0000224616" "00025242" "90" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Met92Thr)" "3" "0000224617" "00025242" "90" "278" "0" "278" "0" "c.278del" "r.(?)" "p.(Gly93Valfs*39)" "3" "0000224618" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "3" "0000224619" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "3" "0000224620" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "3" "0000224621" "00025242" "90" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Trp100*)" "3" "0000224622" "00025242" "90" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Trp100*)" "3" "0000224623" "00025242" "90" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Trp100*)" "3" "0000224624" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224625" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224626" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224627" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224628" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224629" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224630" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224631" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224632" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "3" "0000224633" "00025242" "90" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Tyr115Cys)" "3" "0000224634" "00025242" "10" "0" "0" "0" "0" "c.390+39GT(13_18)" "r.(=)" "p.(=)" "3i" "0000224635" "00025242" "50" "391" "-3" "391" "-3" "c.391-3T>C" "r.(spl?)" "p.(?)" "3i" "0000224636" "00025242" "10" "391" "-42" "391" "-42" "c.391-42A>C" "r.(?)" "p.(=)" "3i" "0000224637" "00025242" "50" "391" "-43" "391" "-43" "c.391-43A>C" "r.(spl?)" "p.(?)" "3i" "0000224638" "00025242" "10" "391" "-79" "391" "-79" "c.391-79G>T" "r.(?)" "p.(=)" "3i" "0000224639" "00025242" "90" "391" "-82" "405" "0" "c.391-82_405del" "r.(?)" "p.(?)" "3i" "0000224640" "00025242" "90" "444" "0" "447" "0" "c.444_447del" "r.(?)" "p.(Asn149*)" "4" "0000224641" "00025242" "90" "444" "0" "447" "0" "c.444_447del" "r.(?)" "p.(Asn149*)" "4" "0000224642" "00025242" "90" "444" "0" "447" "0" "c.444_447del" "r.(?)" "p.(Asn149*)" "4" "0000224643" "00025242" "50" "463" "6" "463" "6" "c.463+6T>C" "r.spl?" "p.(?)" "4i" "0000224644" "00025242" "90" "464" "-317" "663" "-802" "c.464-317_663-802del" "r.464_662del" "p.Asp155Alafs*26" "4i" "0000224645" "00025242" "90" "564" "0" "576" "0" "c.564_576del" "r.(?)" "p.(Lys188Asnfs*5)" "5" "0000224646" "00025242" "90" "566" "0" "566" "0" "c.566del" "r.(?)" "p.(Asn189Metfs*8)" "5" "0000224647" "00025242" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Trp191*)" "5" "0000224648" "00025242" "90" "587" "0" "587" "0" "c.587T>G" "r.(?)" "p.(Leu196Arg)" "5" "0000224649" "00025242" "90" "619" "0" "620" "0" "c.619_620del" "r.(?)" "p.(Arg207Glyfs*9)" "5" "0000224650" "00025242" "90" "626" "0" "626" "0" "c.626dup" "r.626dup" "p.Arg210Glnfs*7" "5" "0000224651" "00025242" "90" "663" "-6109" "825" "550" "c.663-6109_825+550del" "r.663_825del" "p.Val222Leufs*13" "5i" "0000224652" "00025242" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237*)" "6" "0000224653" "00025242" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237*)" "6" "0000224654" "00025242" "90" "734" "0" "737" "0" "c.734_737del" "r.(?)" "p.(Gln245Argfs*10)" "6" "0000224655" "00025242" "90" "742" "0" "745" "0" "c.742_745dup" "r.(?)" "p.(Ser249Metfs*2)" "6" "0000224656" "00025242" "90" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Trp270Arg)" "6" "0000224657" "00025242" "90" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Cys271Tyr)" "6" "0000224658" "00025242" "90" "825" "1" "825" "1" "c.825+1G>A" "r.spl?" "p.(?)" "6i" "0000224659" "00025242" "90" "1037" "2" "1037" "2" "c.1037+2T>C" "r.spl?" "p.(?)" "7i" "0000224660" "00025242" "90" "1037" "5" "1037" "5" "c.1037+5G>A" "r.spl?" "p.(?)" "7i" "0000224661" "00025242" "90" "835" "0" "839" "0" "c.835_839del" "r.(?)" "p.(Thr279Alafs*17)" "7" "0000224662" "00025242" "90" "835" "0" "839" "0" "c.835_839del" "r.(?)" "p.(Thr279Alafs*17)" "7" "0000224663" "00025242" "90" "835" "0" "839" "0" "c.835_839del" "r.(?)" "p.(Thr279Alafs*17)" "7" "0000224664" "00025242" "90" "835" "0" "839" "0" "c.835_839del" "r.(?)" "p.(Thr279Alafs*17)" "7" "0000224665" "00025242" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Gln286*)" "7" "0000224666" "00025242" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Gln286*)" "7" "0000224667" "00025242" "90" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Leu295Phefs*3)" "7" "0000224668" "00025242" "90" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Leu295Phefs*3)" "7" "0000224669" "00025242" "90" "966" "0" "966" "0" "c.966del" "r.966del" "p.Val323Cysfs*11" "7" "0000224670" "00025242" "90" "966" "0" "966" "0" "c.966del" "r.(?)" "p.(Val323Cysfs*11)" "7" "0000224671" "00025242" "90" "974" "0" "974" "0" "c.974del" "r.(?)" "p.(Ser325Trpfs*9)" "7" "0000224672" "00025242" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372*)" "9" "0000224673" "00025242" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372*)" "9" "0000224674" "00025242" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372*)" "9" "0000224675" "00025242" "50" "1253" "811" "1253" "812" "c.1253+811_1253+812delinsCA" "r.(?)" "p.(Ser418+14His)" "9b" "0000224676" "00025242" "10" "1253" "811" "1253" "811" "c.1253+811A>C" "r.(?)" "p.(Ser418+14Arg)" "9b" "0000224677" "00025242" "10" "1253" "812" "1253" "812" "c.1253+812G>A" "r.(?)" "p.(Ser418+14Asn)" "9b" "0000224678" "00025242" "10" "1253" "814" "1253" "814" "c.1253+814G>A" "r.(?)" "p.(Asp418+15Asn)" "9b" "0000224679" "00025242" "10" "-1067" "0" "-1067" "0" "c.-1067T>C" "r.(?)" "p.(?)" "1" "0000224680" "00025242" "10" "1253" "811" "1253" "811" "c.1253+811A>C" "r.(?)" "p.(Ser418+14Arg)" "9b" "0000246631" "00025242" "10" "1253" "767" "1253" "767" "c.1253+767del" "r.(=)" "p.(=)" "" "0000249547" "00025242" "30" "232" "4" "232" "4" "c.232+4T>C" "r.spl?" "p.?" "" "0000295793" "00025242" "10" "1253" "811" "1253" "811" "c.1253+811A>C" "r.(=)" "p.(=)" "" "0000298176" "00025242" "10" "1253" "811" "1253" "811" "c.1253+811A>C" "r.(=)" "p.(=)" "" "0000298177" "00025242" "30" "1253" "812" "1253" "812" "c.1253+812G>A" "r.(=)" "p.(=)" "" "0000298178" "00025242" "30" "1253" "814" "1253" "814" "c.1253+814G>A" "r.(=)" "p.(=)" "" "0000307995" "00025242" "50" "1157" "0" "1157" "0" "c.1157C>G" "r.(?)" "p.(Thr386Arg)" "" "0000307996" "00025242" "50" "1297" "885" "1297" "885" "c.1297+885C>T" "r.(=)" "p.(=)" "" "0000307997" "00025242" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48Trp)" "" "0000307998" "00025242" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Ile131Val)" "" "0000331698" "00025242" "30" "1253" "814" "1253" "814" "c.1253+814G>A" "r.(=)" "p.(=)" "" "0000331699" "00025242" "30" "1253" "812" "1253" "812" "c.1253+812G>A" "r.(=)" "p.(=)" "" "0000331701" "00025242" "50" "446" "0" "446" "0" "c.446A>C" "r.(?)" "p.(Asn149Thr)" "" "0000331702" "00025242" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Ile131Val)" "" "0000336561" "00025242" "90" "158" "0" "158" "0" "c.158C>G" "r.(?)" "p.(Ser53*)" "2" "0000341889" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000344339" "00025242" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "" "0000347145" "00025242" "90" "1202" "0" "1202" "0" "c.1202T>A" "r.(?)" "p.(Leu401Ter)" "" "0000349008" "00025242" "10" "1253" "811" "1253" "811" "c.1253+811A>C" "r.(=)" "p.(=)" "" "0000349009" "00025242" "30" "1253" "812" "1253" "812" "c.1253+812G>A" "r.(=)" "p.(=)" "" "0000349486" "00025242" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Thr386Met)" "" "0000368951" "00025242" "70" "391" "-1" "391" "-1" "c.391-1G>C" "r.spl" "p.?" "3i" "0000369317" "00025242" "90" "811" "0" "812" "0" "c.811_812del" "r.(?)" "p.(Cys271Glnfs*6)" "" "0000472246" "00025242" "90" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Trp7*)" "" "0000533125" "00025242" "30" "1141" "0" "1141" "0" "c.1141G>C" "r.(?)" "p.(Ala381Pro)" "" "0000533126" "00025242" "50" "1015" "0" "1015" "0" "c.1015A>G" "r.(?)" "p.(Met339Val)" "" "0000533127" "00025242" "90" "771" "0" "772" "0" "c.771_772del" "r.(?)" "p.(Cys258Ter)" "" "0000533129" "00025242" "70" "551" "0" "551" "0" "c.551T>C" "r.(?)" "p.(Leu184Pro)" "" "0000533130" "00025242" "30" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137His)" "" "0000533131" "00025242" "30" "391" "-3" "391" "-3" "c.391-3T>C" "r.spl?" "p.?" "" "0000533132" "00025242" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Leu101Phe)" "" "0000533133" "00025242" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "0000533134" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" "0000533135" "00025242" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Val50Ile)" "" "0000611335" "00025242" "30" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Val239Ala)" "" "0000611336" "00025242" "90" "392" "0" "392" "0" "c.392T>A" "r.(?)" "p.(Ile131Lys)" "" "0000611337" "00025242" "50" "185" "0" "185" "0" "c.185T>G" "r.(?)" "p.(Leu62Trp)" "" "0000652376" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "" "0000653360" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97*)" "" "0000653435" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102*)" "" "0000655935" "00025242" "50" "535" "0" "535" "0" "c.535G>T" "r.(?)" "p.(Val179Phe)" "" "0000655937" "00025242" "90" "232" "2" "232" "2" "c.232+2T>C" "r.spl?" "p.?" "" "0000655939" "00025242" "50" "110" "-9580" "110" "-9580" "c.110-9580T>C" "r.(=)" "p.(=)" "" "0000674725" "00025242" "90" "771" "0" "772" "0" "c.771_772del" "r.(?)" "p.(Cys258*)" "" "0000678227" "00025242" "30" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.(Ser325=)" "" "0000678228" "00025242" "90" "913" "0" "913" "0" "c.913del" "r.(?)" "p.(Ser305LeufsTer4)" "" "0000683668" "00025242" "90" "771" "0" "772" "0" "c.771_772del" "r.(?)" "p.(Cys258*)" "" "0000704078" "00025242" "70" "1037" "5" "1037" "5" "c.1037+5G>C" "r.spl?" "p.?" "7" "0000721616" "00025242" "50" "1141" "0" "1141" "0" "c.1141G>C" "r.(?)" "p.(Ala381Pro)" "" "0000721617" "00025242" "90" "880" "0" "880" "0" "c.880dup" "r.(?)" "p.(Ile294AsnfsTer4)" "" "0000721618" "00025242" "90" "232" "1" "232" "1" "c.232+1G>A" "r.spl?" "p.?" "" "0000721619" "00025242" "70" "77" "0" "77" "0" "c.77del" "r.(?)" "p.(Ser26Thrfs*10)" "" "0000721620" "00025242" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000787400" "00025242" "50" "463" "5" "463" "5" "c.463+5G>A" "r.spl" "p.?" "4i" "0000803312" "00025242" "30" "1254" "-9" "1254" "-7" "c.1254-9_1254-7del" "r.(=)" "p.(=)" "" "0000851726" "00025242" "90" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Ile319Asnfs*60)" "" "0000851727" "00025242" "30" "110" "-9504" "110" "-9504" "c.110-9504A>G" "r.(=)" "p.(=)" "" "0000851728" "00025242" "90" "109" "2" "109" "2" "c.109+2T>G" "r.spl?" "p.?" "" "0000851729" "00025242" "50" "104" "0" "104" "0" "c.104T>A" "r.(?)" "p.(Leu35Gln)" "" "0000860975" "00025242" "90" "771" "0" "772" "0" "c.771_772del" "r.(?)" "p.(Cys258Ter)" "" "0000860976" "00025242" "90" "669" "0" "669" "0" "c.669del" "r.(?)" "p.(Tyr223*)" "" "0000860977" "00025242" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Thr86Ile)" "" "0000888053" "00025242" "50" "521" "0" "521" "0" "c.521T>G" "r.(?)" "p.(Met174Arg)" "" "0000888054" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000888055" "00025242" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "0000888056" "00025242" "50" "25" "0" "25" "0" "c.25C>A" "r.(?)" "p.(Leu9Met)" "" "0000917165" "00025242" "50" "16" "0" "16" "0" "c.16T>G" "r.(?)" "p.(Trp6Gly)" "" "0000924792" "00025242" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Ile131Val)" "" "0000929397" "00025242" "90" "542" "0" "542" "0" "c.542dup" "r.(?)" "p.(Asp182Argfs*35)" "" "0000936170" "00025242" "50" "16" "0" "16" "0" "c.16T>G" "r.(?)" "p.(Trp6Gly)" "" "0000948973" "00025242" "90" "619" "0" "620" "0" "c.619_620del" "r.(?)" "p.(Arg207Glyfs*9)" "" "0000972044" "00025242" "70" "806" "0" "806" "0" "c.806del" "r.(?)" "p.(Asp269Alafs*20)" "9" "0000977914" "00025242" "50" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Val239Ala)" "" "0000977915" "00025242" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000996768" "00025242" "50" "1157" "0" "1157" "0" "c.1157C>G" "r.(?)" "p.(Thr386Arg)" "" "0000996769" "00025242" "30" "769" "0" "769" "0" "c.769A>C" "r.(?)" "p.(Thr257Pro)" "" "0000996770" "00025242" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20Gln)" "" "0001014393" "00025242" "30" "391" "-3" "391" "-3" "c.391-3T>C" "r.spl?" "p.?" "" "0001025455" "00025242" "70" "1037" "5" "1037" "5" "c.1037+5G>A" "r.spl?" "p.?" "" "0001045464" "00025242" "90" "663" "-3" "663" "-3" "c.663-3C>A" "r.0" "p.0" "" "0001059145" "00025242" "90" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 117 "{{screeningid}}" "{{variantid}}" "0000072357" "0000115916" "0000072380" "0000115940" "0000072381" "0000336561" "0000072385" "0000115944" "0000072386" "0000115945" "0000072387" "0000115946" "0000072388" "0000115947" "0000072389" "0000115948" "0000072390" "0000115949" "0000072397" "0000115956" "0000072397" "0000163198" "0000072397" "0000163199" "0000072398" "0000115957" "0000072398" "0000115958" "0000072398" "0000163197" "0000072399" "0000115959" "0000100816" "0000163200" "0000101366" "0000163902" "0000133605" "0000222846" "0000134559" "0000224598" "0000134560" "0000224599" "0000134561" "0000224600" "0000134562" "0000224601" "0000134563" "0000224602" "0000134564" "0000224603" "0000134565" "0000224604" "0000134566" "0000224605" "0000134567" "0000224606" "0000134568" "0000224607" "0000134569" "0000224608" "0000134570" "0000224609" "0000134571" "0000224610" "0000134572" "0000224611" "0000134573" "0000224612" "0000134574" "0000224613" "0000134575" "0000224614" "0000134576" "0000224615" "0000134577" "0000224616" "0000134578" "0000224617" "0000134579" "0000224618" "0000134580" "0000224619" "0000134581" "0000224620" "0000134582" "0000224621" "0000134583" "0000224622" "0000134584" "0000224623" "0000134585" "0000224624" "0000134586" "0000224625" "0000134587" "0000224626" "0000134588" "0000224627" "0000134589" "0000224628" "0000134590" "0000224629" "0000134591" "0000224630" "0000134592" "0000224631" "0000134593" "0000224632" "0000134594" "0000224633" "0000134595" "0000224634" "0000134596" "0000224635" "0000134597" "0000224636" "0000134598" "0000224637" "0000134599" "0000224638" "0000134600" "0000224639" "0000134601" "0000224640" "0000134602" "0000224641" "0000134603" "0000224642" "0000134604" "0000224643" "0000134605" "0000224644" "0000134606" "0000224645" "0000134607" "0000224646" "0000134608" "0000224647" "0000134609" "0000224648" "0000134610" "0000224649" "0000134611" "0000224650" "0000134612" "0000224651" "0000134613" "0000224652" "0000134614" "0000224653" "0000134615" "0000224654" "0000134616" "0000224655" "0000134617" "0000224656" "0000134618" "0000224657" "0000134619" "0000224658" "0000134620" "0000224659" "0000134621" "0000224660" "0000134622" "0000224661" "0000134623" "0000224662" "0000134624" "0000224663" "0000134625" "0000224664" "0000134626" "0000224665" "0000134627" "0000224666" "0000134628" "0000224667" "0000134629" "0000224668" "0000134630" "0000224669" "0000134631" "0000224670" "0000134632" "0000224671" "0000134633" "0000224672" "0000134634" "0000224673" "0000134635" "0000224674" "0000134636" "0000224675" "0000134637" "0000224676" "0000134638" "0000224677" "0000134639" "0000224678" "0000134640" "0000224679" "0000134641" "0000224680" "0000165292" "0000368951" "0000165592" "0000369317" "0000230671" "0000472246" "0000295687" "0000652376" "0000296669" "0000653360" "0000296736" "0000653435" "0000307904" "0000674725" "0000309168" "0000683668" "0000321259" "0000704078" "0000376049" "0000787400" "0000431875" "0000917165" "0000440026" "0000936170" "0000450108" "0000972044" "0000467609" "0001045464" "0000471023" "0001059145"