### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBA1A) # 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}}" "TUBA1A" "tubulin, alpha 1a" "12" "q13.12" "unknown" "NG_008966.1" "UD_134408326425" "" "https://www.LOVD.nl/TUBA1A" "" "1" "20766" "7846" "602529" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the efforts of Moritz Hebebrand (Erlangen, Germany), acting as curator for the TUBA1A database until Dec.2021." "" "g" "http://databases.lovd.nl/shared/refseq/TUBA1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-27 15:24:44" "00000" "2025-07-08 13:22:38" ## 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}}" "00022117" "TUBA1A" "transcript variant 1" "001" "NM_006009.3" "" "NP_006000.2" "" "" "" "-345" "1571" "1356" "49583107" "49578578" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03044" "LIS3" "lissencephaly, type 3 (LIS-3)" "AD" "611603" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04304" "MRMV" "mirror movements (MRMV)" "" "" "" "" "" "00006" "2015-07-19 11:49:15" "" "" "05214" "ACC" "corpus callosum, agenesis ACC" "" "217990" "brain" "" "" "00001" "2017-01-13 19:47:07" "00006" "2020-04-22 14:20:16" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "07087" "AIC" "Aicardi syndrome" "" "304050" "" "" "" "00006" "2024-05-28 16:54:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TUBA1A" "00139" "TUBA1A" "03044" ## Individuals ## Do not remove or alter this header ## ## Count = 190 "{{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}}" "00100456" "" "" "" "1" "" "01469" "" "" "F" "?" 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"" "" "0" "" "" "" "28677066-P113708 I-3 (father)" "00181305" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-P78411" "00181306" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-TUB01" "00181307" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-P34016" "00181308" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "F" "?" "" "" "0" "" "" "" "28677066-P46814 II-1" "00181309" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "F" "?" "" "" "0" "" "" "" "28677066-P46814 II-2 (ident. Twin sister)" "00181310" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "F" "?" "" "" "0" "" "" "" "28677066-TUB06" "00181311" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-TUB07" "00181312" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "F" "?" "" "" "0" "" "" "" "28677066-P76111" "00181313" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-21807" "00181314" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "source reviewed" "M" "?" "" "" "0" "" "" "" "28677066-17656" "00181315" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Mencarelli 2017:29109381}" "source reviewed" "F" "no" "" "" "0" "" "" "" "29109381-Pat" "00181316" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, Erlangen" "source reviewed" "M" "no" "Germany" "" "0" "" "" "" "Erlangen_757_2016" "00181317" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, Erlangen" "source reviewed" "M" "no" "Germany" "" "0" "" "" "" "Erlangen_756_2013" "00181318" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "source reviewed" "M" "no" "" "" "0" "" "" "" "17584854-Patient 4 (F) =Fetus" "00181319" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "source reviewed" "M" "no" "" "" "0" "" "" "" "17584854-Patient 6(F)" "00181320" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "source reviewed" "M" "no" "" "" "0" "" "" "" "17584854-Patient 7(F)" "00181321" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Fallet-Bianco 2008:18669490}" "source reviewed" "M" "no" "" "" "0" "" "" "" "18669490-(F)_2" "00181322" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Lecourtois 2010:20376468}" "source reviewed" "F" "no" "" "" "0" "" "" "" "20376468-(F)_1" "00181323" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "source reviewed" "?" "no" "" "" "0" "" "" "" "20466733-CM-66" "00181324" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_004_fetus08" "00181325" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_004_fetus09" "00181326" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_005_foetus01" "00181327" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_003_ fetus18" "00181328" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_002_ fetus20" "00181329" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_080_ fetus24" "00181330" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_079_ fetus25" "00181331" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_017 fetus02" "00181332" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_018_ fetus10" "00181333" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_012_ fetus22" "00181334" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_011_ fetus23" "00181335" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "M" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_043_foetus11" "00181336" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "source reviewed" "F" "?" "" "" "0" "" "" "" "24860126-LIS_TUB_053_foetus21" "00181337" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Fallet-Bianco 2014:25059107}" "source reviewed" "M" "?" "" "" "0" "" "" "" "25059107-LIS_TUB_081_ fetus26" "00181338" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:de 2012:NA}" "source reviewed" "F" "?" "" "" "0" "" "" "" "denovo-db individual: Trio 7" "00181339" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Helbig 2016:NA}" "source reviewed" "?" "?" "" "" "0" "" "" "" "denovo-db individual: 93" "00181340" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Iossifov 2014:NA}" "source reviewed" "M" "?" "" "" "0" "" "" "" "denovo-db individual: 11724" "00181341" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Lelieveld 2016:NA}" "source reviewed" "?" "?" "" "" "0" "" "" "" "denovo-db individual: 316" "00181342" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181343" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181344" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Posey 2016:NA}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181345" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181346" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181347" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181348" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181349" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181350" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181351" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181352" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181353" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181354" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181355" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181356" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181357" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181358" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181359" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Alby 2016:NA}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181360" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181361" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181362" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181363" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181364" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181365" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181366" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181367" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181368" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181369" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181370" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181371" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181372" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181373" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181374" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181375" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181376" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181377" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181378" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181379" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181380" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181381" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181382" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181383" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181394" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Wiszniewski 2018:29706646}" "source reviewed" "M" "?" "" "" "0" "" "" "" "29706646-40913IMID" "00181395" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Sato 2018:29907476}" "source reviewed" "F" "?" "" "" "0" "" "" "" "29907476-III-1" "00181396" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00181397" "" "" "" "1" "" "02267" "{DOI:Hebebrand 2018:10.1101/427948}" "source reviewed" "?" "?" "" "" "0" "" "" "" "ClinVar" "00183046" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio07" "00290729" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303048" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat93" "00307819" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410837" "00311881" "" "" "" "1" "" "03813" "" "" "M" "no" "" "" "" "" "" "" "Subject 2" "00311884" "" "" "" "1" "" "03813" "" "" "F" "no" "" "" "" "" "" "" "" "00311893" "" "" "" "1" "" "03813" "" "" "F" "no" "" "" "0" "" "" "" "" "00374126" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00375641" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00381849" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "184460" "00390078" "" "" "" "1" "" "00006" "{PMID:Nissenkorn 2021:33413009}" "" "M" "" "Israel" "" "0" "" "" "" "Fam4Pat8" "00392043" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "230P" "00394994" "" "" "" "1" "" "01164" "" "prenatal trio-exom after ultrasound abnormalities" "?" "no" "Germany" "" "0" "" "" "" "189864" "00405959" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "184620" "00428002" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A100" "00433361" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "patient" "M" "no" "Belgium" "" "0" "" "" "" "Pat24;Pat30" "00448385" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "285701" "00450479" "" "" "" "1" "" "00006" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "F" "" "" "" "0" "" "" "" "F036.1" "00460895" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00462295" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "51-155-PES" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 191 "{{individualid}}" "{{diseaseid}}" "00100456" "00198" "00100457" "00198" "00100459" "00198" "00100460" "00198" "00100461" "00198" "00100462" "00198" "00100463" "00198" "00100464" "00198" "00100465" "00198" "00100466" "00198" "00100467" "00198" "00100468" "00198" "00100469" "00198" "00108613" "05214" "00111414" "03044" "00181233" "03044" "00181234" "03044" "00181235" "03044" "00181236" "03044" "00181237" "03044" "00181238" "03044" "00181239" "03044" "00181240" "03044" "00181241" "03044" "00181242" "03044" "00181243" "03044" "00181244" "03044" "00181245" "03044" "00181246" "03044" "00181247" "03044" "00181248" "03044" "00181249" "03044" "00181250" "03044" "00181251" "03044" "00181252" "03044" "00181253" "03044" "00181254" "03044" "00181255" "03044" "00181256" "03044" "00181257" "03044" "00181258" "03044" "00181259" "03044" "00181260" "03044" "00181261" "03044" "00181262" "03044" "00181263" "03044" "00181264" "03044" "00181265" "03044" "00181266" "03044" "00181267" "03044" "00181268" "03044" "00181269" "03044" "00181270" "03044" "00181271" "03044" "00181272" "03044" "00181273" "03044" "00181274" "03044" "00181275" "03044" "00181276" "03044" "00181277" "03044" "00181278" "03044" "00181279" "03044" "00181280" "03044" "00181281" "03044" "00181282" "03044" "00181283" "03044" "00181284" "03044" "00181285" "03044" "00181286" "03044" "00181287" "03044" "00181288" "03044" "00181289" "03044" "00181290" "03044" "00181291" "03044" "00181292" "03044" "00181293" "03044" "00181294" "03044" "00181295" "03044" "00181296" "03044" "00181297" "03044" "00181298" "03044" "00181299" "03044" "00181300" "03044" "00181301" "03044" "00181302" "03044" "00181303" "03044" "00181304" "03044" "00181305" "03044" "00181306" "03044" "00181307" "03044" "00181308" "03044" "00181309" "03044" "00181310" "03044" "00181311" "03044" "00181312" "03044" "00181313" "03044" "00181314" "03044" "00181315" "03044" "00181316" "03044" "00181317" "03044" "00181318" "03044" "00181319" "03044" "00181320" "03044" "00181321" "03044" "00181322" "03044" "00181323" "03044" "00181324" "03044" "00181325" "03044" "00181326" "03044" "00181327" "03044" "00181328" "03044" "00181329" "03044" "00181330" "03044" "00181331" "03044" "00181332" "03044" "00181333" "03044" "00181334" "03044" "00181335" "03044" "00181336" "03044" "00181337" "03044" "00181338" "03044" "00181339" "03044" "00181340" "03044" "00181341" "03044" "00181342" "03044" "00181343" "03044" "00181344" "03044" "00181345" "03044" "00181346" "03044" "00181347" "03044" "00181348" "03044" "00181349" "03044" "00181350" "03044" "00181351" "03044" "00181352" "03044" "00181353" "03044" "00181354" "03044" "00181355" "03044" "00181356" "03044" "00181357" "03044" "00181358" "03044" "00181359" "03044" "00181360" "03044" "00181361" "03044" "00181362" "03044" "00181363" "03044" "00181364" "03044" "00181365" "03044" "00181366" "03044" "00181367" "03044" "00181368" "03044" "00181369" "03044" "00181370" "03044" "00181371" "03044" "00181372" "03044" "00181373" "03044" "00181374" "03044" "00181375" "03044" "00181376" "03044" "00181377" "03044" "00181378" "03044" "00181379" "03044" "00181380" "03044" "00181381" "03044" "00181382" "03044" "00181383" "03044" "00181394" "03044" "00181395" "03044" "00181396" "03044" "00181397" "03044" "00183046" "00139" "00290729" "00198" "00303048" "05521" "00307819" "00139" "00311881" "00198" "00311884" "00198" "00311893" "00198" "00374126" "00198" "00375641" "00198" "00381849" "03044" "00390078" "04304" "00392043" "00139" "00392043" "03044" "00394994" "03044" "00405959" "03044" "00428002" "00198" "00433361" "05421" "00448385" "03044" "00450479" "07087" "00460895" "00198" "00462295" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03044, 04304, 05214, 05421, 05521, 07087 ## Count = 186 "{{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}}" "0000078656" "00198" "00100456" "01469" "Familial, autosomal dominant" "" "Cerebellar dysplasia;\r\nAbnormality of the cerebellar vermis; Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic hemiparesis;Ataxia; Intellectual disability, mild;Congenital microcephaly;Strabismus;Optic nerve hypoplasia (left);" "" "" "" "" "" "" "" "" "" "" "" "0000078657" "00198" "00100457" "01469" "Familial, autosomal dominant" "" "Cerebellar dysplasia;Abnormality of the cerebellar vermis;Thin corpus callosum;Abnormality of the basal ganglia;Perisylvian polymicrogyria;Neurodevelopmental delay;Spastic hemiparesis;Ataxia;Intellectual disability,mild;Congenital microcephaly;Strabismus;Lumbar scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000078658" "00198" "00100459" "01469" "Unknown" "" "Cerebellar dysplasia;Abnormality of the cerebellar vermis;Thin corpus callosum;Abnormaity of the basal ganglia;Neurodevelopmental delay; Spastic hemiparesis;Ataxia;Intellectual disability, mild;Strabismus;Obesity;Scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000078660" "00198" "00100460" "01469" "Isolated (sporadic)" "" "Dysplastic corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Intellectual disability,mild; Ocular movement abnormalities" "" "" "" "" "" "" "" "" "" "" "" "0000078661" "00198" "00100461" "01469" "Isolated (sporadic)" "" "Cerebellar vermis hypoplasia;Abnormality of the pons;Corpus callosum agenesis;Abnormality of the basal ganglia;Simplified gyral pattern;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability,severe;Congenital microcephaly;Focal seizures" "" "" "" "" "" "" "" "" "" "" "" "0000078662" "00198" "00100462" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Abnormality of the pons;Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Intellectual disability,mild;Congenital microcephaly;West syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000078663" "00198" "00100463" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Cerebellar vermis hypoplasia;Abnormality of the brainstem;Hypoplasia of the pons;Thin corpus callosum;Abnormality of the basal ganglia;Perisylvian polymicrogyria;Neurodevelopmental delay;Generalized hypotonia;Dyskinesia;Dystonia;Intellectual disabikity,severe;Congenital microcephaly;Strabismus;Nistagmus;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078665" "00198" "00100464" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia,Dysgenesis of the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia; Thin corpus callosum;Abnormality of the basal ganglia; Perysilvian polymicrogyria, Neurodevelopmental delay;Hypotonia;Intellectual disability,severe;Congenital microcephaly;Strabismus;Nistagmus;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078666" "00198" "00100465" "01469" "Unknown" "" "Cerebellar dysplasia;Abnormality of the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia;Thin corpus callosum;Partial agenesis of corpus callosum; Abnormality of the basal ganglia; Neurodevelopmental delay;Generalized hypotonia;Intellectual disability,severe;Congenital microcephaly;Optic nerve hypoplasia;Central visual loss;West syndrome;Generalized tonic seizures" "" "" "" "" "" "" "" "" "" "" "" "0000078667" "00198" "00100466" "01469" "Unknown" "" "Thin corpus callosum;Abnormality of the basal ganglia;Perysilvian polymicrogyria;Pachygyria;Neurodevelopmental delay;Spastic tetraparesis;Intellectual disability,moderate;Congenital microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000078668" "00198" "00100467" "01469" "Isolated (sporadic)" "" "Hypoplasia o the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia;Thin corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Clumsiness;Ataxia;Intellectual disability,severe;Congenital microcephaly;Strabismus;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078669" "00198" "00100468" "01469" "Isolated (sporadic)" "" "Cerebellar dysplasia;Dysgenesis of the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia; Partial agenesis of corpus callosum;Abnormality of the basal ganglia;Perysilvian polymicrogyria;Neurodevelopmental delay;Intellectual disability,severe;Nistagmus;Central visual loss; Myoclonic seizures;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000078670" "00198" "00100469" "01469" "Unknown" "" "Cerebellar dysplasia;Dysgenesis of the cerebellar vermis;Abnormality of the brainstem;Pontine hypoplasia;Partial agenesis of corpus callosum;Abnormality of the basal ganglia;Neurodevelopmental delay;Spastic tetraparesis; Intellectual disability,severe;Congenital microcephaly;Pyosis;Strabismus;Nistagmus;Focal seizures;Facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000086090" "05214" "00108613" "01796" "Familial, autosomal dominant" "" "MRI brain complete agenesis corpus callosum with a small pons and small inferior aspect of the midbrain. Severe cognitive impairments and global developmental delay with significant emotional/behavioral problems, including anxiety. The affected individual also has strabismus, cortical visual impairment and a history of febrile seizures." "" "" "" "" "" "" "" "" "" "" "" "0000087500" "03044" "00111414" "00729" "Isolated (sporadic)" "" "Severe ID, severe epilepsy, developmental regression, scoliosis, hypotonia, MRI: agenesis of corpus callosum, Dandy-Walker malformation, opticus hypoplasia, delayed bone age" "" "" "" "" "" "" "" "" "" "" "" "0000143419" "03044" "00181233" "02267" "Isolated (sporadic)" "02y00m" "Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143420" "03044" "00181234" "02267" "Isolated (sporadic)" "02y00m" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143421" "03044" "00181235" "02267" "Isolated (sporadic)" "03y06m" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143422" "03044" "00181236" "02267" "Isolated (sporadic)" "00y01m" "Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143423" "03044" "00181237" "02267" "Isolated (sporadic)" "02y00m" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143424" "03044" "00181238" "02267" "Isolated (sporadic)" "03y00m" "Partial agenesis of the corpus callosum (HP:0001338); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143425" "03044" "00181239" "02267" "Isolated (sporadic)" "11y00m" "Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Strabismus, Nystagmus (HP:0000486, HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143426" "03044" "00181240" "02267" "Isolated (sporadic)" "03y09m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000143427" "03044" "00181241" "02267" "Isolated (sporadic)" "09y00m" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143428" "03044" "00181242" "02267" "Isolated (sporadic)" "00y01m" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143429" "03044" "00181243" "02267" "Isolated (sporadic)" "07y00m" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); no Seizures (-HP:0001250); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143430" "03044" "00181244" "02267" "Isolated (sporadic)" "01y07m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143431" "03044" "00181245" "02267" "Isolated (sporadic)" "05y06m" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143432" "03044" "00181246" "02267" "Isolated (sporadic)" "04y06m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143433" "03044" "00181247" "02267" "Isolated (sporadic)" "07y00m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143434" "03044" "00181248" "02267" "Isolated (sporadic)" "07y00m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143435" "03044" "00181249" "02267" "Unknown" "" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143436" "03044" "00181250" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143437" "03044" "00181251" "02267" "Unknown" "" "Agenesis of the corpus callosum (HP:0001274); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)" "" "" "" "" "" "" "" "" "" "" "" "0000143438" "03044" "00181252" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143439" "03044" "00181253" "02267" "Unknown" "" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143440" "03044" "00181254" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143441" "03044" "00181255" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143442" "03044" "00181256" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143443" "03044" "00181257" "02267" "Unknown" "" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143444" "03044" "00181258" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143445" "03044" "00181259" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101)" "" "" "" "" "" "" "" "" "" "" "" "0000143446" "03044" "00181260" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)" "" "" "" "" "" "" "" "" "" "" "" "0000143447" "03044" "00181261" "02267" "Isolated (sporadic)" "" "Partial agenesis of the corpus callosum (HP:0001338); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dysgenesis of the hippocampus (HP:0025101); Dilated fourth ventricle (HP:0002198)" "" "" "" "" "" "" "" "" "" "" "" "0000143448" "03044" "00181262" "02267" "Unknown" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143449" "03044" "00181263" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Cerebellar hypoplasia (HP:0001321)" "" "" "" "" "" "" "" "" "" "" "" "0000143450" "03044" "00181264" "02267" "Isolated (sporadic)" "01y06m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Spasticity (HP:0001257); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000143451" "03044" "00181265" "02267" "Familial, autosomal dominant" "07y00m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of the cerebellar vermis (-HP:0002334); Hypoplasia of the brainstem (HP:0002365); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143452" "03044" "00181266" "02267" "Familial, autosomal dominant" "01y10m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilated fourth ventricle (HP:0002198); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Microcephaly (HP:0000252); Spasticity (HP:0001257); no Seizures (-HP:0001250); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143453" "03044" "00181267" "02267" "Unknown" "26y00m" "Hypoplasia of the corpus callosum (HP:0002079); no Abnormal cortical gyration (-HP:0002536); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); no Abnormality of the internal capsule (-HP:0012502); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143454" "03044" "00181268" "02267" "Isolated (sporadic)" "01y02m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143455" "03044" "00181269" "02267" "Isolated (sporadic)" "03y00m" "Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); no Gray matter heterotopia (-HP:0002281); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143456" "03044" "00181270" "02267" "Isolated (sporadic)" "14d" "Agenesis of the corpus callosum (HP:0001274); Polymicrogyria (HP:0002126); no Abnormality of brainstem morphology (-HP:0002363); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); no Seizures (-HP:0001250); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143457" "03044" "00181271" "02267" "Isolated (sporadic)" "07y00m" "Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Abnormality of the internal capsule (HP:0012502); no Microcephaly (-HP:0000252); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143458" "03044" "00181272" "02267" "Isolated (sporadic)" "00y02m" "Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); no Abnormality of the cerebellar vermis (-HP:0002334); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143459" "03044" "00181273" "02267" "Isolated (sporadic)" "11y00m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143460" "03044" "00181274" "02267" "Isolated (sporadic)" "07y06m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of brainstem morphology (-HP:0002363); no Abnormal cerebellum morphology (-HP:0001317); no Microcephaly (-HP:0000252); Other neurological symptoms (NA); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000143461" "03044" "00181275" "02267" "Isolated (sporadic)" "01y00m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143462" "03044" "00181276" "02267" "Isolated (sporadic)" "03y00m" "Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143463" "03044" "00181277" "02267" "Isolated (sporadic)" "08y00m" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); no Gray matter heterotopia (-HP:0002281); Congenital microcephaly (HP:0011451); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143464" "03044" "00181278" "02267" "Isolated (sporadic)" "05y00m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Brainstem dysplasia (HP:0002508); Dysgenesis of the hippocampus (HP:0025101); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Other neurological symptoms (NA); Infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143465" "03044" "00181279" "02267" "Isolated (sporadic)" "01y00m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria-pachygyria (HP:0031883, HP:0001302); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143466" "03044" "00181280" "02267" "Isolated (sporadic)" "04y00m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Cerebellar dysplasia (HP:0007033); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143467" "03044" "00181281" "02267" "Isolated (sporadic)" "01y00m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Cerebellar dysplasia (HP:0007033); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143468" "03044" "00181282" "02267" "Isolated (sporadic)" "01y6m" "Hypoplasia of the corpus callosum (HP:0002079); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143469" "03044" "00181283" "02267" "Isolated (sporadic)" "10y00m" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143470" "03044" "00181284" "02267" "Isolated (sporadic)" "11y00m" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143471" "03044" "00181285" "02267" "Isolated (sporadic)" "11y00m" "no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Dysgenesis of the cerebellar vermis (HP:0002195); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143472" "03044" "00181286" "02267" "Isolated (sporadic)" "10y00m" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143473" "03044" "00181287" "02267" "Isolated (sporadic)" "01y06m" "no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143474" "03044" "00181288" "02267" "Isolated (sporadic)" "06y05m" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143475" "03044" "00181289" "02267" "Isolated (sporadic)" "06y00m" "no Abnormal corpus callosum morphology (-HP:0001273); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143476" "03044" "00181290" "02267" "Isolated (sporadic)" "03y00m" "no Abnormal corpus callosum morphology (-HP:0001273); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143477" "03044" "00181291" "02267" "Isolated (sporadic)" "04y00m" "Partial agenesis of the corpus callosum (HP:0001338); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143478" "03044" "00181292" "02267" "Isolated (sporadic)" "04y00m" "Partial agenesis of the corpus callosum (HP:0001338); Cortical gyral simplification (HP:0009879); no Abnormal cerebellum morphology (-HP:0001317); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143479" "03044" "00181293" "02267" "Isolated (sporadic)" "7d" "Hypoplasia of the corpus callosum (HP:0002079); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "" "" "0000143480" "03044" "00181294" "02267" "Isolated (sporadic)" "02y01m" "Partial agenesis of the corpus callosum (HP:0001338); Other (NA); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); no Microcephaly (-HP:0000252); Spasticity (HP:0001257); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143481" "03044" "00181295" "02267" "Isolated (sporadic)" "04y03m" "Partial agenesis of the corpus callosum (HP:0001338); Other (NA); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal morphology of the hippocampus (HP:0025100); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143482" "03044" "00181296" "02267" "Isolated (sporadic)" "03y00m" "Agenesis of the corpus callosum (HP:0001274); Other (NA); Hypoplasia of the brainstem (HP:0002365); Cerebellar agenesis (HP:0012642); Dilation of lateral ventricles (HP:0006956); Congenital microcephaly (HP:0011451); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143483" "03044" "00181297" "02267" "Isolated (sporadic)" "02y00m" "Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); no Abnormality of brainstem morphology (-HP:0002363); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); Spasticity (HP:0001257); Infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143484" "03044" "00181298" "02267" "Isolated (sporadic)" "01y07m" "Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143485" "03044" "00181299" "02267" "Unknown" "00y00m" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143486" "03044" "00181300" "02267" "Unknown" "02y00m" "Dysplastic corpus callosum (HP:0006989); Agyria-pachygyria (HP:0031883, HP:0001302); no Abnormality of brainstem morphology (-HP:0002363); Cerebellar hypoplasia (HP:0001321); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143487" "03044" "00181301" "02267" "Isolated (sporadic)" "00y05m" "Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); Dilated fourth ventricle (HP:0002198); Congenital microcephaly (HP:0011451); Focal seizures (HP:0007359); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143488" "03044" "00181302" "02267" "Familial, autosomal dominant" "22y00m" "Hypoplasia of the corpus callosum (HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143489" "03044" "00181303" "02267" "Familial, autosomal dominant" "22y00m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143490" "03044" "00181304" "02267" "Isolated (sporadic)" "52y00m" "Hypoplasia of the corpus callosum (HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Dilated fourth ventricle (HP:0002198); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143491" "03044" "00181305" "02267" "Isolated (sporadic)" "04y03m" "Hypoplasia of the corpus callosum (HP:0002079); no Abnormality of brainstem morphology (-HP:0002363); Dilated fourth ventricle (HP:0002198); no Congenital microcephaly (-HP:0011451); Other neurological symptoms (NA)" "" "" "" "" "" "" "" "" "" "" "" "0000143492" "03044" "00181306" "02267" "Isolated (sporadic)" "02y06m" "Agenesis of the corpus callosum (HP:0001274); Cortical gyral simplification (HP:0009879); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000143493" "03044" "00181307" "02267" "Isolated (sporadic)" "52y00m" "Hypoplasia of the corpus callosum (HP:0002079); Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); normal (NA); Infantile spasms (HP:0012469)" "" "" "" "" "" "" "" "" "" "" "" "0000143494" "03044" "00181308" "02267" "Isolated (sporadic)" "01y08m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); Cerebellar vermis hypoplasia (HP:0001320); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250); Strabismus, Nystagmus (HP:0000486, HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143495" "03044" "00181309" "02267" "Isolated (sporadic)" "01y08m" "Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum (HP:0001338, HP:0002079); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250); Strabismus, Nystagmus (HP:0000486, HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143496" "03044" "00181310" "02267" "Unknown" "03y00m" "Brainstem dysplasia (HP:0002508); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures, Infantile spasms (HP:0002069, HP:0012469); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143497" "03044" "00181311" "02267" "Unknown" "03y06m" "Hypoplasia of the corpus callosum (HP:0002079); Perisylvian polymicrogyria (HP:0012650); no Abnormality of brainstem morphology (-HP:0002363); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143498" "03044" "00181312" "02267" "Isolated (sporadic)" "05y00m" "Hypoplasia of the corpus callosum (HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Other neurological symptoms (NA); no Seizures (-HP:0001250); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143499" "03044" "00181313" "02267" "Isolated (sporadic)" "03y00m" "Partial agenesis of the corpus callosum (HP:0001338); Perisylvian polymicrogyria (HP:0012650); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451); Generalized tonic-clonic seizures (HP:0002069); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143500" "03044" "00181314" "02267" "Unknown" "11y00m" "Partial agenesis of the corpus callosum (HP:0001338); Dysgenesis of the cerebellar vermis (HP:0002195); Brainstem dysplasia (HP:0002508); Dilated fourth ventricle (HP:0002198); Abnormality of the internal capsule (HP:0012502); Congenital microcephaly (HP:0011451); Spasticity (HP:0001257); Focal seizures (HP:0007359); Strabismus, Nystagmus (HP:0000486, HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000143501" "03044" "00181315" "02267" "Isolated (sporadic)" "09y00m" "Hypoplasia of the corpus callosum (HP:0002079); Cortical gyral simplification (HP:0009879); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143502" "03044" "00181316" "02267" "Isolated (sporadic)" "13y00m" "Hypoplasia of the corpus callosum (HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252); Spasticity, muscular hypotonia (HP:0001257, HP:0001252); Focal seizures (HP:0007359); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143503" "03044" "00181317" "02267" "Isolated (sporadic)" "14y06m" "Hypoplasia of the corpus callosum (HP:0002079); Other (NA); Dilation of lateral ventricles (HP:0006956); no Congenital microcephaly (-HP:0011451); no Microcephaly (-HP:0000252); Muscular hypotonia (HP:0001252); no Seizures (-HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000143504" "03044" "00181318" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143505" "03044" "00181319" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143506" "03044" "00181320" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143507" "03044" "00181321" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Dysgenesis of the hippocampus (HP:0025101); Dilation of lateral ventricles (HP:0006956); Gray matter heterotopia (HP:0002281); Abnormality of the internal capsule (HP:0012502); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143508" "03044" "00181322" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Pachygyria (HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Dilation of lateral ventricles, Dilated fourth ventricle (HP:0006956, HP:0002198); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143509" "03044" "00181323" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); Hypoplastic hippocampus (HP:0025517); Dilation of lateral ventricles (HP:0006956); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143510" "03044" "00181324" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143511" "03044" "00181325" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143512" "03044" "00181326" "02267" "Isolated (sporadic)" "" "Partial agenesis of the corpus callosum (HP:0001338); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the brainstem (HP:0002365); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143513" "03044" "00181327" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252); Optic nerve hypoplasia (HP:0000609)" "" "" "" "" "" "" "" "" "" "" "" "0000143514" "03044" "00181328" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143515" "03044" "00181329" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321); no Gray matter heterotopia (-HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143516" "03044" "00181330" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Dysgenesis of the cerebellar vermis (HP:0002195); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143517" "03044" "00181331" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143518" "03044" "00181332" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the pons (HP:0012110); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143519" "03044" "00181333" "02267" "Isolated (sporadic)" "" "Dysplastic corpus callosum (HP:0006989); Agyria (HP:0031882); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); no Abnormal morphology of the hippocampus (HP:0025100); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143520" "03044" "00181334" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Agyria-pachygyria (HP:0031883, HP:0001302); Cerebellar vermis hypoplasia (HP:0001320); Hypoplasia of the brainstem (HP:0002365); Cerebellar hypoplasia (HP:0001321); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143521" "03044" "00181335" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Polymicrogyria (HP:0002126); Cerebellar vermis hypoplasia (HP:0001320); no Abnormal cerebellum morphology (-HP:0001317); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143522" "03044" "00181336" "02267" "Isolated (sporadic)" "" "Agenesis of the corpus callosum (HP:0001274); Polymicrogyria (HP:0002126); Dysgenesis of the cerebellar vermis (HP:0002195); Cerebellar dysplasia (HP:0007033); Dysgenesis of the hippocampus (HP:0025101); Gray matter heterotopia (HP:0002281); no Congenital microcephaly (-HP:0011451)" "" "" "" "" "" "" "" "" "" "" "" "0000143523" "03044" "00181337" "02267" "Unknown" "" "Agenesis of the corpus callosum (HP:0001274); Hypoplasia of the pons (HP:0012110); Cerebellar dysplasia (HP:0007033); Gray matter heterotopia (HP:0002281); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000143524" "03044" "00181338" "02267" "Isolated (sporadic)" "04y06m" "Hypoplasia of the pons (HP:0012110); Cerebellar hypoplasia (HP:0001321)" "" "" "" "" "" "" "" "" "" "" "" "0000143525" "03044" "00181339" "02267" "Isolated (sporadic)" "" "Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143526" "03044" "00181340" "02267" "Isolated (sporadic)" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143527" "03044" "00181341" "02267" "Isolated (sporadic)" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143528" "03044" "00181342" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143529" "03044" "00181343" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143530" "03044" "00181344" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143531" "03044" "00181345" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143532" "03044" "00181346" "02267" "Isolated (sporadic)" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143533" "03044" "00181347" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143534" "03044" "00181348" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143535" "03044" "00181349" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143536" "03044" "00181350" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143537" "03044" "00181351" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143538" "03044" "00181352" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143539" "03044" "00181353" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143540" "03044" "00181354" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143541" "03044" "00181355" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143542" "03044" "00181356" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143543" "03044" "00181357" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143544" "03044" "00181358" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143545" "03044" "00181359" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143546" "03044" "00181360" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143547" "03044" "00181361" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143548" "03044" "00181362" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143549" "03044" "00181363" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143550" "03044" "00181364" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143551" "03044" "00181365" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143552" "03044" "00181366" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143553" "03044" "00181367" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143554" "03044" "00181368" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143555" "03044" "00181369" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143556" "03044" "00181370" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143557" "03044" "00181371" "02267" "Isolated (sporadic)" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143558" "03044" "00181372" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143559" "03044" "00181373" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143560" "03044" "00181374" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143561" "03044" "00181375" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143562" "03044" "00181376" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143563" "03044" "00181377" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143564" "03044" "00181378" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143565" "03044" "00181379" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143566" "03044" "00181380" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143567" "03044" "00181381" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143568" "03044" "00181382" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143569" "03044" "00181383" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143580" "03044" "00181394" "02267" "Isolated (sporadic)" "" "Hypoplasia of the corpus callosum (HP:0002079); Cerebellar vermis hypoplasia (HP:0001320); Cerebellar hypoplasia (HP:0001321); Gray matter heterotopia (HP:0002281); Generalized tonic-clonic seizures (HP:0002069)" "" "" "" "" "" "" "" "" "" "" "" "0000143581" "03044" "00181395" "02267" "Isolated (sporadic)" "00y10m" "Hypoplasia of the corpus callosum (HP:0002079); Polymicrogyria (HP:0002126); Brainstem dysplasia (HP:0002508); Cerebellar hypoplasia (HP:0001321); Abnormality of the internal capsule (HP:0012502); no Microcephaly (-HP:0000252); Muscular hypotonia (HP:0001252); Generalized tonic-clonic seizures (HP:0002069); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000143582" "03044" "00181396" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143583" "03044" "00181397" "02267" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000143799" "00139" "00183046" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000230131" "05521" "00303048" "00006" "Isolated (sporadic)" "" "Generalized epilepsy, infantile onset; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000237227" "00198" "00311881" "03813" "Isolated (sporadic)" "" "congenital fibrosis of the extraocular muscles (HP:0001491)" "" "" "" "" "" "" "" "" "" "" "" "0000237228" "00198" "00311884" "03813" "Isolated (sporadic)" "" "congenital fibrosis of the extraocular muscles (HP:0001491), polymicrogyria (HP:0002126)" "" "" "" "" "" "" "" "" "" "" "" "0000237229" "00198" "00311893" "03813" "Unknown" "" "congenital fibrosis of the extraocular muscles (HP:0001491), polymicrogyria (HP:0002126)" "" "" "" "" "" "" "" "" "" "" "" "0000269337" "00198" "00374126" "00006" "Isolated (sporadic)" "<0d" "17w-fetus, ultrasound intrauterine growth retardation, arthrogryposis, cleft palate; autopsy intrauterine growth retardation, microcephaly, median labial and palate cleft, arthrogryposis, gyration defect, cerebellar hypoplasia, hypocampus hypoplasia; unusual median labial and palate cleft" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000270854" "00198" "00375641" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; microcephaly; hypotonia; stereotyped behavior; MRI brain cerebellar atrophy" "" "4y" "" "" "" "" "" "" "" "" "" "0000275691" "03044" "00381849" "01164" "Isolated (sporadic)" "" "Seizure, Global developmental delay, Ventriculomegaly, Abnormal aggressive, impulsive or violent behavior, Focal-onset seizure, Abnormality of brain morphology, Esodeviation, Thin corpus callosum, Short corpus callosum" "" "14y" "" "" "" "" "" "" "" "" "" "0000283616" "04304" "00390078" "00006" "Isolated (sporadic)" "8y6m" "moderate global delay; special education; OFC -0.5 SD; no epilepsy; gait ataxia, severe dyspraxia; dystonia lower limb" "" "" "" "" "" "" "" "" "" "congenital mirror movement" "" "0000288194" "03044" "00394994" "01164" "Isolated (sporadic)" "" "Increased nuchal translucency, Fetal cystic hygroma; the first-born daughter, 10 years old, showed global developmental delay and cerebellar vermis hypoplasia after premature birth in the 23rd week of gestation." "" "" "" "" "" "" "" "" "" "0y" "" "0000298457" "03044" "00405959" "01164" "Isolated (sporadic)" "02y" "Microcephaly, Decreased head circumference, Neurodevelopmental delay, Global developmental delay, Hypotonia, Abnormal muscle tone" "" "" "" "" "" "" "" "" "" "" "" "0000318948" "00198" "00428002" "00006" "Familial, autosomal dominant" "10y" "" "" "" "" "" "" "" "" "" "Lissencephaly 3" "" "" "0000323882" "05421" "00433361" "00006" "Unknown" "4y6m" "primary microcephaly, axial hypotonia, visual abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities; birth OFC (SD-1), weigth (SD-0.5), length median; OFC (SD-4), weigth (SD-2.5), length (SD-2.5); 23m-generalized, tonic and atonic, treatment LTG and TPM; severe intellectual disability; MRI partial agenesis corpus callosum, partial agenesis of the vermis, occipital white matter abnormalities, neuronal migration abnormalities" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000337573" "03044" "00448385" "01164" "Isolated (sporadic)" "03y" "Ptosis, Cafe-au-lait spot, Hypotonia, Motor delay, Hip dysplasia, Exercise intolerance, Positional foot deformity, Tented upper lip vermilion" "" "" "" "" "" "" "" "" "" "" "" "0000339542" "07087" "00450479" "00006" "Isolated (sporadic)" "" "lissencephaly" "" "" "" "" "" "" "" "" "LIS3" "Aicardi syndrome" "" "0000349794" "00198" "00462295" "00006" "Isolated (sporadic)" "" "23gw-severe microlissencephaly with neuronal migration defects" "" "" "" "" "" "" "" "" "" "cerebral anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 190 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100864" "00100456" "1" "01469" "01469" "2017-02-27 17:28:39" "" "" "SEQ" "DNA" "" "" "0000100865" "00100457" "1" "01469" "01469" "2017-02-27 17:42:36" "" "" "SEQ" "DNA" "" "" "0000100866" "00100459" "1" "01469" "01469" "2017-02-27 17:49:48" "" "" "SEQ" "DNA" "" "" "0000100868" "00100460" "1" "01469" "01469" "2017-02-27 17:57:53" "" "" "SEQ" "DNA" "" "" "0000100869" "00100461" "1" "01469" "01469" "2017-02-27 18:03:14" "" "" "SEQ" "DNA" "" "" "0000100870" "00100462" "1" "01469" "01469" "2017-02-27 18:09:27" "" "" "SEQ" "DNA" "" "" "0000100871" "00100463" "1" "01469" "01469" "2017-02-27 18:18:34" "" "" "SEQ" "DNA" "" "" "0000100872" "00100464" "1" "01469" "01469" "2017-02-27 18:25:13" "" "" "SEQ" "DNA" "" "" "0000100873" "00100465" "1" "01469" "01469" "2017-02-27 18:33:27" "" "" "SEQ" "DNA" "" "" "0000100874" "00100466" "1" "01469" "01469" "2017-02-27 18:38:11" "" "" "SEQ" "DNA" "" "" "0000100875" "00100467" "1" "01469" "01469" "2017-02-27 18:43:40" "" "" "SEQ" "DNA" "" "" "0000100876" "00100468" "1" "01469" "01469" "2017-02-27 18:50:46" "" "" "SEQ" "DNA" "" "" "0000100877" "00100469" "1" "01469" "01469" "2017-02-27 18:58:13" "" "" "SEQ" "DNA" "" "" "0000109080" "00108613" "1" "01796" "01796" "2017-07-26 04:33:08" "01796" "2017-07-26 04:43:55" "SEQ-NG" "DNA" "Blood" "" "0000111879" "00111414" "1" "00729" "00729" "2017-08-03 07:49:46" "" "" "SEQ-NG" "DNA" "" "" "0000182193" "00181233" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182194" "00181234" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182195" "00181235" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182196" "00181236" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182197" "00181237" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182198" "00181238" "1" "02267" "02267" 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"0000182327" "00181367" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182328" "00181368" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182329" "00181369" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182330" "00181370" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182331" "00181371" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182332" "00181372" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182333" "00181373" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182334" "00181374" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182335" "00181375" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182336" "00181376" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182337" "00181377" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182338" "00181378" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182339" "00181379" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182340" "00181380" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182341" "00181381" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182342" "00181382" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182343" "00181383" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182354" "00181394" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182355" "00181395" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182356" "00181396" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000182357" "00181397" "1" "02267" "02267" "2018-10-04 18:03:58" "" "" "SEQ-NG" "DNA" "" "" "0000184006" "00183046" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291897" "00290729" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304173" "00303048" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000308959" "00307819" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000313053" "00311881" "1" "03813" "03813" "2020-09-29 21:10:30" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000313056" "00311884" "1" "03813" "03813" "2020-09-29 21:28:32" "" "" "SEQ-NG" "DNA" "" "" "0000313065" "00311893" "1" "03813" "03813" "2020-09-29 23:42:39" "03813" "2020-09-30 19:22:41" "SEQ-NG" "DNA" "" "exome sequencing" "0000375319" "00374126" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000376838" "00375641" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000383065" "00381849" "1" "01164" "01164" "2021-09-03 12:44:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000391319" "00390078" "1" "00006" "00006" "2021-11-09 17:45:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000393285" "00392043" "1" "02494" "02494" "2021-11-19 17:58:28" "" "" "SEQ-NG" "DNA" "" "WES" "0000396240" "00394994" "1" "01164" "01164" "2021-12-03 11:50:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000407200" "00405959" "1" "01164" "01164" "2022-03-23 17:09:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000429415" "00428002" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, fibroblasts" "singleton WES" "0000434815" "00433361" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000449961" "00448385" "1" "01164" "01164" "2024-03-07 14:05:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000452077" "00450479" "1" "00006" "00006" "2024-05-28 16:56:06" "" "" "SEQ;SEQ-PB" "DNA" "" "" "0000462527" "00460895" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000463927" "00462295" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 179 "{{screeningid}}" "{{geneid}}" "0000100864" "TUBA1A" "0000100865" "TUBA1A" "0000100866" "TUBA1A" "0000100868" "TUBA1A" "0000100869" "TUBA1A" "0000100870" "TUBA1A" "0000100871" "TUBA1A" "0000100872" "TUBA1A" "0000100873" "TUBA1A" "0000100874" "TUBA1A" "0000100875" "TUBA1A" "0000100876" "TUBA1A" "0000100877" "TUBA1A" "0000109080" "DCC" "0000109080" "TUBA1A" "0000111879" "TUBA1A" "0000182193" "TUBA1A" "0000182194" "TUBA1A" "0000182195" "TUBA1A" "0000182196" "TUBA1A" "0000182197" "TUBA1A" "0000182198" "TUBA1A" "0000182199" "TUBA1A" "0000182200" "TUBA1A" "0000182201" "TUBA1A" "0000182202" "TUBA1A" "0000182203" "TUBA1A" "0000182204" "TUBA1A" "0000182205" "TUBA1A" "0000182206" "TUBA1A" "0000182207" "TUBA1A" "0000182208" "TUBA1A" "0000182209" "TUBA1A" "0000182210" "TUBA1A" "0000182211" "TUBA1A" "0000182212" "TUBA1A" "0000182213" "TUBA1A" "0000182214" "TUBA1A" "0000182215" "TUBA1A" "0000182216" "TUBA1A" "0000182217" "TUBA1A" "0000182218" "TUBA1A" "0000182219" "TUBA1A" "0000182220" "TUBA1A" "0000182221" "TUBA1A" "0000182222" "TUBA1A" "0000182223" "TUBA1A" "0000182224" "TUBA1A" "0000182225" "TUBA1A" "0000182226" "TUBA1A" "0000182227" "TUBA1A" "0000182228" "TUBA1A" "0000182229" "TUBA1A" "0000182230" "TUBA1A" "0000182231" "TUBA1A" "0000182232" "TUBA1A" "0000182233" "TUBA1A" "0000182234" "TUBA1A" "0000182235" "TUBA1A" "0000182236" "TUBA1A" "0000182237" "TUBA1A" "0000182238" "TUBA1A" "0000182239" "TUBA1A" "0000182240" "TUBA1A" "0000182241" "TUBA1A" "0000182242" "TUBA1A" "0000182243" "TUBA1A" "0000182244" "TUBA1A" "0000182245" "TUBA1A" "0000182246" "TUBA1A" "0000182247" "TUBA1A" "0000182248" "TUBA1A" "0000182249" "TUBA1A" "0000182250" "TUBA1A" "0000182251" "TUBA1A" "0000182252" "TUBA1A" "0000182253" "TUBA1A" "0000182254" "TUBA1A" "0000182255" "TUBA1A" "0000182256" "TUBA1A" "0000182257" "TUBA1A" "0000182258" "TUBA1A" "0000182259" "TUBA1A" "0000182260" "TUBA1A" "0000182261" "TUBA1A" "0000182262" "TUBA1A" "0000182263" "TUBA1A" "0000182264" "TUBA1A" "0000182265" "TUBA1A" "0000182266" "TUBA1A" "0000182267" "TUBA1A" "0000182268" "TUBA1A" "0000182269" "TUBA1A" "0000182270" "TUBA1A" "0000182271" "TUBA1A" "0000182272" "TUBA1A" "0000182273" "TUBA1A" "0000182274" "TUBA1A" "0000182275" "TUBA1A" "0000182276" "TUBA1A" "0000182277" "TUBA1A" "0000182278" "TUBA1A" "0000182279" "TUBA1A" "0000182280" "TUBA1A" "0000182281" "TUBA1A" "0000182282" "TUBA1A" "0000182283" "TUBA1A" "0000182284" "TUBA1A" "0000182285" "TUBA1A" "0000182286" "TUBA1A" "0000182287" "TUBA1A" "0000182288" "TUBA1A" "0000182289" "TUBA1A" "0000182290" "TUBA1A" "0000182291" "TUBA1A" "0000182292" "TUBA1A" "0000182293" "TUBA1A" "0000182294" "TUBA1A" "0000182295" "TUBA1A" "0000182296" "TUBA1A" "0000182297" "TUBA1A" "0000182298" "TUBA1A" "0000182299" "TUBA1A" "0000182300" "TUBA1A" "0000182301" "TUBA1A" "0000182302" "TUBA1A" "0000182303" "TUBA1A" "0000182304" "TUBA1A" "0000182305" "TUBA1A" "0000182306" "TUBA1A" "0000182307" "TUBA1A" "0000182308" "TUBA1A" "0000182309" "TUBA1A" "0000182310" "TUBA1A" "0000182311" "TUBA1A" "0000182312" "TUBA1A" "0000182313" "TUBA1A" "0000182314" "TUBA1A" "0000182315" "TUBA1A" "0000182316" "TUBA1A" "0000182317" "TUBA1A" "0000182318" "TUBA1A" "0000182319" "TUBA1A" "0000182320" "TUBA1A" "0000182321" "TUBA1A" "0000182322" "TUBA1A" "0000182323" "TUBA1A" "0000182324" "TUBA1A" "0000182325" "TUBA1A" "0000182326" "TUBA1A" "0000182327" "TUBA1A" "0000182328" "TUBA1A" "0000182329" "TUBA1A" "0000182330" "TUBA1A" "0000182331" "TUBA1A" "0000182332" "TUBA1A" "0000182333" "TUBA1A" "0000182334" "TUBA1A" "0000182335" "TUBA1A" "0000182336" "TUBA1A" "0000182337" "TUBA1A" "0000182338" "TUBA1A" "0000182339" "TUBA1A" "0000182340" "TUBA1A" "0000182341" "TUBA1A" "0000182342" "TUBA1A" "0000182343" "TUBA1A" "0000182354" "TUBA1A" "0000182355" "TUBA1A" "0000182356" "TUBA1A" "0000182357" "TUBA1A" "0000304173" "TUBA1A" "0000308959" "TUBA1A" "0000375319" "TUBA1A" "0000383065" "TUBA1A" "0000396240" "TUBA1A" "0000407200" "TUBA1A" "0000449961" "TUBA1A" "0000462527" "TUBA1A" ## 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 = 270 "{{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}}" "0000163255" "11" "70" "12" "49580459" "49580459" "subst" "0" "01469" "TUBA1A_000001" "g.49580459C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186676C>T" "" "likely pathogenic" "" "0000163256" "11" "70" "12" "49580459" "49580459" "subst" "0" "01469" "TUBA1A_000001" "g.49580459C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186676C>T" "" "likely pathogenic" "" "0000163257" "0" "70" "12" "49580459" "49580459" "subst" "0" "01469" "TUBA1A_000001" "g.49580459C>T" "" "" "" "" "" "Unknown" "yes" "" "0" "" "" "g.49186676C>T" "" "likely pathogenic" "" "0000163258" "0" "70" "12" "49580445" "49580445" "subst" "0" "01469" "TUBA1A_000009" "g.49580445C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49186662C>T" "" "likely pathogenic" "" "0000163259" "0" "70" "12" "49580116" "49580116" "subst" "0" "01469" "TUBA1A_000008" "g.49580116C>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49186333C>G" "" "likely pathogenic" "" "0000163261" "0" "70" "12" "49580100" "49580100" "subst" "0" "01469" "TUBA1A_000007" "g.49580100C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49186317C>T" "" "likely pathogenic" "" "0000163262" "0" "70" "12" "49579700" "49579700" "subst" "0" "01469" "TUBA1A_000006" "g.49579700G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49185917G>A" "" "likely pathogenic" "" "0000163263" "0" "70" "12" "49579700" "49579700" "subst" "0" "01469" "TUBA1A_000006" "g.49579700G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49185917G>A" "" "likely pathogenic" "" "0000163264" "0" "70" "12" "49579508" "49579508" "subst" "0" "01469" "TUBA1A_000005" "g.49579508C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.49185725C>T" "" "likely pathogenic" "" "0000163265" "0" "70" "12" "49579359" "49579359" "subst" "0" "01469" "TUBA1A_000004" "g.49579359G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.49185576G>A" "" "likely pathogenic" "" "0000163266" "0" "70" "12" "49578989" "49578989" "subst" "0" "01469" "TUBA1A_000003" "g.49578989G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49185206G>A" "" "likely pathogenic" "" "0000163267" "0" "70" "12" "49578980" "49578980" "subst" "0" "01469" "TUBA1A_000002" "g.49578980C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49185197C>T" "" "likely pathogenic" "" "0000163268" "0" "70" "12" "49578980" "49578980" "subst" "0" "01469" "TUBA1A_000002" "g.49578980C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.49185197C>T" "" "likely pathogenic" "" "0000175153" "0" "50" "12" "49578903" "49578903" "subst" "0" "01796" "TUBA1A_000010" "g.49578903C>T" "" "{PMID:Jamuar 2017:28250456}" "" "G416S" "" "De novo" "" "" "0" "" "" "g.49185120C>T" "" "VUS" "" "0000179036" "0" "90" "12" "49579508" "49579508" "subst" "0" "00729" "TUBA1A_000005" "g.49579508C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49185725C>T" "" "pathogenic" "ACMG" "0000253463" "0" "10" "12" "49579639" "49579639" "subst" "0.0080531" "01943" "TUBA1A_000039" "g.49579639A>G" "" "" "" "TUBA1A(NM_006009.3):c.510T>C (p.S170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185856A>G" "" "benign" "" "0000254700" "0" "30" "12" "49580192" "49580192" "subst" "0" "01943" "TUBA1A_000013" "g.49580192A>G" "" "" "" "TUBA1A(NM_001270399.1):c.276T>C (p.L92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186409A>G" "" "likely benign" "" "0000255162" "0" "30" "12" "49579363" "49579363" "subst" "0.000442747" "01943" "TUBA1A_000036" "g.49579363A>G" "" "" "" "TUBA1A(NM_006009.3):c.786T>C (p.Y262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185580A>G" "" "likely benign" "" "0000255995" "0" "50" "12" "49580124" "49580124" "subst" "0" "01943" "TUBA1A_000011" "g.49580124A>G" "" "" "" "TUBA1A(NM_006009.3):c.344T>C (p.I115T, p.(Ile115Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186341A>G" "" "VUS" "" "0000312875" "0" "70" "12" "49579631" "49579631" "subst" "0" "02325" "TUBA1A_000038" "g.49579631G>A" "" "" "" "TUBA1A(NM_001270399.2):c.518C>T (p.P173L), TUBA1A(NM_006009.3):c.518C>T (p.(Pro173Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185848G>A" "" "likely pathogenic" "" "0000312876" "0" "50" "12" "49579182" "49579182" "subst" "0" "02325" "TUBA1A_000030" "g.49579182C>T" "" "" "" "TUBA1A(NM_001270399.1):c.967G>A (p.(Val323Met)), TUBA1A(NM_001270399.2):c.967G>A (p.V323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185399C>T" "" "VUS" "" "0000313584" "0" "90" "12" "49578980" "49578980" "subst" "0" "02329" "TUBA1A_000002" "g.49578980C>T" "" "" "" "TUBA1A(NM_001270399.2):c.1169G>A (p.R390H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185197C>T" "" "pathogenic" "" "0000313585" "0" "70" "12" "49579208" "49579208" "subst" "0" "02329" "TUBA1A_000032" "g.49579208G>A" "" "" "" "TUBA1A(NM_001270399.2):c.941C>T (p.A314V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185425G>A" "" "likely pathogenic" "" "0000315159" "0" "70" "12" "49579212" "49579212" "subst" "0" "02326" "TUBA1A_000033" "g.49579212T>C" "" "" "" "TUBA1A(NM_001270399.1):c.937A>G (p.M313V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185429T>C" "" "likely pathogenic" "" "0000319013" "0" "30" "12" "49579141" "49579141" "subst" "0.00204678" "01943" "TUBA1A_000029" "g.49579141C>T" "" "" "" "TUBA1A(NM_001270399.1):c.1008G>A (p.K336=), TUBA1A(NM_006009.3):c.1008G>A (p.K336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185358C>T" "" "likely benign" "" "0000319014" "0" "50" "12" "49579107" "49579107" "subst" "0" "01943" "TUBA1A_000028" "g.49579107G>A" "" "" "" "TUBA1A(NM_006009.3):c.1042C>T (p.P348S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185324G>A" "" "VUS" "" "0000319015" "0" "90" "12" "49578944" "49578944" "subst" "0" "01943" "TUBA1A_000027" "g.49578944C>T" "" "" "" "TUBA1A(NM_006009.3):c.1205G>A (p.R402H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "" "0000319016" "0" "30" "12" "49578831" "49578831" "subst" "4.06062E-6" "01943" "TUBA1A_000026" "g.49578831C>T" "" "" "" "TUBA1A(NM_006009.3):c.1318G>A (p.V440I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185048C>T" "" "likely benign" "" "0000319017" "0" "10" "12" "49580449" "49580449" "subst" "4.06055E-6" "01943" "TUBA1A_000018" "g.49580449C>A" "" "" "" "TUBA1A(NM_006009.3):c.171G>T (p.G57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186666C>A" "" "benign" "" "0000319018" "0" "30" "12" "49580431" "49580431" "subst" "0.000491327" "01943" "TUBA1A_000017" "g.49580431G>A" "" "" "" "TUBA1A(NM_006009.3):c.189C>T (p.P63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186648G>A" "" "likely benign" "" "0000319019" "0" "10" "12" "49580384" "49580384" "subst" "0.000910073" "01943" "TUBA1A_000016" "g.49580384G>A" "" "" "" "TUBA1A(NM_001270399.1):c.226+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186601G>A" "" "benign" "" "0000319020" "0" "30" "12" "49580222" "49580222" "subst" "0" "01943" "TUBA1A_000015" "g.49580222G>A" "" "" "" "TUBA1A(NM_001270399.1):c.246C>T (p.T82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186439G>A" "" "likely benign" "" "0000319021" "0" "30" "12" "49580195" "49580195" "subst" "0" "01943" "TUBA1A_000014" "g.49580195T>C" "" "" "" "TUBA1A(NM_006009.3):c.273A>G (p.Q91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186412T>C" "" "likely benign" "" "0000319022" "0" "10" "12" "49580180" "49580180" "subst" "0.420614" "01943" "TUBA1A_000012" "g.49580180T>C" "" "" "" "TUBA1A(NM_006009.3):c.288A>G (p.K96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186397T>C" "" "benign" "" "0000319023" "0" "30" "12" "49579759" "49579759" "subst" "0.000203092" "01943" "TUBA1A_000042" "g.49579759C>G" "" "" "" "TUBA1A(NM_001270399.1):c.390G>C (p.T130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185976C>G" "" "likely benign" "" "0000319024" "0" "30" "12" "49579753" "49579753" "subst" "0.00167326" "01943" "TUBA1A_000041" "g.49579753G>A" "" "" "" "TUBA1A(NM_006009.3):c.396C>T (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185970G>A" "" "likely benign" "" "0000319025" "0" "90" "12" "49579697" "49579697" "subst" "0" "01943" "TUBA1A_000040" "g.49579697G>C" "" "" "" "TUBA1A(NM_006009.3):c.452C>G (p.S151W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185914G>C" "" "pathogenic" "" "0000319026" "0" "10" "12" "49579696" "49579696" "subst" "0.415624" "01943" "TUBA1A_000022" "g.49579696C>G" "" "" "" "TUBA1A(NM_006009.3):c.453G>C (p.S151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185913C>G" "" "benign" "" "0000319027" "0" "10" "12" "49579627" "49579627" "subst" "0.00826648" "01943" "TUBA1A_000037" "g.49579627C>T" "" "" "" "TUBA1A(NM_001270399.1):c.522G>A (p.A174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185844C>T" "" "benign" "" "0000319028" "0" "90" "12" "49580615" "49580615" "subst" "0" "01943" "TUBA1A_000020" "g.49580615C>T" "" "" "" "TUBA1A(NM_006009.3):c.5G>A (p.R2H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186832C>T" "" "pathogenic" "" "0000319029" "0" "50" "12" "49579361" "49579361" "subst" "0" "01943" "TUBA1A_000035" "g.49579361G>A" "" "" "" "TUBA1A(NM_001270399.1):c.788C>T (p.P263L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185578G>A" "" "VUS" "" "0000319030" "0" "90" "12" "49579358" "49579358" "subst" "0" "01943" "TUBA1A_000034" "g.49579358C>T" "" "" "" "TUBA1A(NM_006009.3):c.791G>A (p.R264H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185575C>T" "" "pathogenic" "" "0000319031" "0" "30" "12" "49580536" "49580536" "subst" "1.62431E-5" "01943" "TUBA1A_000019" "g.49580536G>A" "" "" "" "TUBA1A(NM_001270399.1):c.84C>T (p.H28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186753G>A" "" "likely benign" "" "0000319032" "0" "30" "12" "49579183" "49579183" "subst" "0.00254052" "01943" "TUBA1A_000031" "g.49579183G>A" "" "" "" "TUBA1A(NM_006009.3):c.966C>T (p.D322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185400G>A" "" "likely benign" "" "0000322837" "0" "50" "12" "49579770" "49579770" "subst" "0" "01804" "TUBA1A_000122" "g.49579770C>T" "" "" "" "TUBA1A(NM_006009.3):c.379G>A (p.(Asp127Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185987C>T" "" "VUS" "" "0000340204" "0" "10" "12" "49579696" "49579696" "subst" "0.415624" "02327" "TUBA1A_000022" "g.49579696C>G" "" "" "" "TUBA1A(NM_006009.3):c.453G>C (p.S151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185913C>G" "" "benign" "" "0000340205" "0" "10" "12" "49580180" "49580180" "subst" "0.420614" "02327" "TUBA1A_000012" "g.49580180T>C" "" "" "" "TUBA1A(NM_006009.3):c.288A>G (p.K96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186397T>C" "" "benign" "" "0000342676" "0" "70" "12" "49579134" "49579134" "subst" "0" "02327" "TUBA1A_000021" "g.49579134G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185351G>A" "" "likely pathogenic" "" "0000346680" "0" "70" "12" "49580530" "49580530" "subst" "0" "02327" "TUBA1A_000025" "g.49580530G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186747G>C" "" "likely pathogenic" "" "0000346882" "0" "50" "12" "49579755" "49579755" "subst" "0" "02327" "TUBA1A_000023" "g.49579755G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49185972G>C" "" "VUS" "" "0000350633" "0" "70" "12" "49580417" "49580417" "subst" "0" "02327" "TUBA1A_000024" "g.49580417A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49186634A>G" "" "likely pathogenic" "" "0000406070" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Keays 2007:17218254}" "" "" "identified_by: Keays Cell, 2007 Pubmed_ID: 17218254" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406071" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Keays 2007:17218254}" "" "" "identified_by: Keays Cell, 2007 Pubmed_ID: 17218254" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406072" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Hum Mutat, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406073" "0" "99" "12" "49579587" "49579587" "subst" "0" "02267" "TUBA1A_000108" "g.49579587T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Hum Mutat, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185804T>G" "" "pathogenic" "ACMG" "0000406074" "0" "99" "12" "49578893" "49578893" "subst" "0" "02267" "TUBA1A_000051" "g.49578893G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Hum Mutat, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185110G>A" "" "pathogenic" "ACMG" "0000406075" "0" "99" "12" "49580457" "49580457" "subst" "0" "02267" "TUBA1A_000137" "g.49580457C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Morris-Rosendahl 2008:18954413}" "" "" "identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413" "Germline" "yes" "" "0" "" "" "g.49186674C>T" "" "pathogenic" "ACMG" "0000406076" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Morris-Rosendahl 2008:18954413}" "" "" "identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406077" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000055" "g.49578944C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Morris-Rosendahl 2008:18954413}" "" "" "identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413" "Germline" "yes" "" "0" "" "" "g.49185161C>A" "" "pathogenic" "ACMG" "0000406078" "0" "99" "12" "49578884" "49578884" "subst" "0" "02267" "TUBA1A_000049" "g.49578884C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Morris-Rosendahl 2008:18954413}" "" "" "identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413" "Germline" "yes" "" "0" "" "" "g.49185101C>T" "" "pathogenic" "ACMG" "0000406079" "0" "99" "12" "49578884" "49578884" "subst" "0" "02267" "TUBA1A_000049" "g.49578884C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Morris-Rosendahl 2008:18954413}" "" "" "identified_by: Morris-Rosendahl Clin Genet, 2008 Pubmed_ID: 18954413" "Germline" "yes" "" "0" "" "" "g.49185101C>T" "" "pathogenic" "ACMG" "0000406080" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406081" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406082" "0" "99" "12" "49578959" "49578959" "subst" "0" "02267" "TUBA1A_000058" "g.49578959A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185176A>G" "" "pathogenic" "ACMG" "0000406083" "0" "99" "12" "49578885" "49578885" "subst" "0" "02267" "TUBA1A_000050" "g.49578885G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185102G>A" "" "pathogenic" "ACMG" "0000406084" "0" "99" "12" "49578843" "49578843" "subst" "0" "02267" "TUBA1A_000045" "g.49578843C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185060C>G" "" "pathogenic" "ACMG" "0000406085" "0" "99" "12" "49578884" "49578884" "subst" "0" "02267" "TUBA1A_000049" "g.49578884C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2008:18728072}" "" "" "identified_by: Bahi-Buisson J Med Genet, 2008 Pubmed_ID: 18728072" "Germline" "yes" "" "0" "" "" "g.49185101C>T" "" "pathogenic" "ACMG" "0000406086" "0" "77" "12" "49579739" "49579739" "subst" "0" "02267" "TUBA1A_000120" "g.49579739A>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185956A>T" "" "likely pathogenic" "ACMG" "0000406087" "0" "99" "12" "49579497" "49579497" "subst" "0" "02267" "TUBA1A_000101" "g.49579497C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185714C>A" "" "pathogenic" "ACMG" "0000406088" "0" "77" "12" "49579341" "49579341" "subst" "0" "02267" "TUBA1A_000090" "g.49579341C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185558C>T" "" "likely pathogenic" "ACMG" "0000406089" "0" "99" "12" "49579163" "49579163" "subst" "0" "02267" "TUBA1A_000079" "g.49579163T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185380T>C" "" "pathogenic" "ACMG" "0000406090" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406091" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406092" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406093" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406094" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406095" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406096" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406097" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406098" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406099" "0" "77" "12" "49578875" "49578875" "subst" "0" "02267" "TUBA1A_000048" "g.49578875A>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185092A>T" "" "likely pathogenic" "ACMG" "0000406100" "0" "99" "12" "49578981" "49578981" "subst" "0" "02267" "TUBA1A_000062" "g.49578981G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49185198G>A" "" "pathogenic" "ACMG" "0000406101" "0" "99" "12" "49579520" "49579520" "subst" "0" "02267" "TUBA1A_000104" "g.49579520T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Jansen 2011:21403111}" "" "" "identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111" "Germline" "yes" "" "0" "" "" "g.49185737T>C" "" "pathogenic" "ACMG" "0000406102" "0" "77" "12" "49580607" "49580607" "subst" "0" "02267" "TUBA1A_000148" "g.49580607T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Jansen 2011:21403111}" "" "" "identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111" "Germline" "yes" "" "0" "" "" "g.49186824T>G" "" "likely pathogenic" "ACMG" "0000406103" "0" "77" "12" "49580607" "49580607" "subst" "0" "02267" "TUBA1A_000148" "g.49580607T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Jansen 2011:21403111}" "" "" "identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111" "Germline" "yes" "" "0" "" "" "g.49186824T>G" "" "likely pathogenic" "ACMG" "0000406104" "0" "77" "12" "49580607" "49580607" "subst" "0" "02267" "TUBA1A_000148" "g.49580607T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Jansen 2011:21403111}" "" "" "identified_by: Jansen Neurology, 2011 Pubmed_ID: 21403111" "Germline" "yes" "" "0" "" "" "g.49186824T>G" "" "likely pathogenic" "ACMG" "0000406105" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000055" "g.49578944C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Sohal 2012:22264709}" "" "" "identified_by: Sohal Pediatr Neurol, 2012 Pubmed_ID: 22264709" "Germline" "yes" "" "0" "" "" "g.49185161C>A" "" "pathogenic" "ACMG" "0000406106" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Mokanszki 2012:22408144}" "" "" "identified_by: Mokanszki J Child Neurol, 2012 Pubmed_ID: 22408144" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406107" "0" "99" "12" "49580411" "49580411" "subst" "0" "02267" "TUBA1A_000133" "g.49580411A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Cushion 2013:23361065}" "" "" "identified_by: Cushion Brain, 2013 Pubmed_ID: 23361065" "Germline" "yes" "" "0" "" "" "g.49186628A>G" "" "pathogenic" "ACMG" "0000406108" "0" "99" "12" "49579151" "49579151" "subst" "0" "02267" "TUBA1A_000077" "g.49579151G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Cushion 2013:23361065}" "" "" "identified_by: Cushion Brain, 2013 Pubmed_ID: 23361065" "Germline" "yes" "" "0" "" "" "g.49185368G>A" "" "pathogenic" "ACMG" "0000406109" "0" "99" "12" "49579053" "49579053" "subst" "0" "02267" "TUBA1A_000070" "g.49579053C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Okumura 2013:22633752}" "" "" "identified_by: Okumura Brain Dev, 2013 Pubmed_ID: 22633752" "Germline" "yes" "" "0" "" "" "g.49185270C>T" "" "pathogenic" "ACMG" "0000406110" "0" "99" "12" "49579668" "49579668" "subst" "0" "02267" "TUBA1A_000111" "g.49579668A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2013:22948023}" "" "" "identified_by: Poirier Eur J Hum Genetics, 2013 Pubmed_ID: 22948023" "Germline" "yes" "" "0" "" "" "g.49185885A>G" "" "pathogenic" "ACMG" "0000406111" "0" "99" "12" "49579446" "49579446" "subst" "0" "02267" "TUBA1A_000097" "g.49579446C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2013:22948023}" "" "" "identified_by: Poirier Eur J Hum Genetics, 2013 Pubmed_ID: 22948023" "Germline" "yes" "" "0" "" "" "g.49185663C>A" "" "pathogenic" "ACMG" "0000406112" "0" "99" "12" "49578981" "49578981" "subst" "0" "02267" "TUBA1A_000062" "g.49578981G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2013:22948023}" "" "" "identified_by: Poirier Eur J Hum Genetics, 2013 Pubmed_ID: 22948023" "Germline" "yes" "" "0" "" "" "g.49185198G>A" "" "pathogenic" "ACMG" "0000406113" "0" "99" "12" "49578980" "49578980" "subst" "0" "02267" "TUBA1A_000002" "g.49578980C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Zanni 2013:23317684}" "" "" "identified_by: Zanni Eur J Pediatr Neurol, 2013 Pubmed_ID: 23317684" "Germline" "yes" "" "0" "" "" "g.49185197C>T" "" "pathogenic" "ACMG" "0000406114" "0" "99" "12" "49579550" "49579550" "subst" "0" "02267" "TUBA1A_000105" "g.49579550C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Hikita 2014:23528852}" "" "" "identified_by: Hikita Brain Dev, 2014 Pubmed_ID: 23528852" "Germline" "yes" "" "0" "" "" "g.49185767C>T" "" "pathogenic" "ACMG" "0000406115" "0" "99" "12" "49578989" "49578989" "subst" "0" "02267" "TUBA1A_000003" "g.49578989G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2014:24392928}" "" "" "identified_by: Romaniello Dev Med Child Neurol, 2014 Pubmed_ID: 24392928" "Germline" "yes" "" "0" "" "" "g.49185206G>A" "" "pathogenic" "ACMG" "0000406116" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kamiya 2014:24510153}" "" "" "identified_by: Kamiya Neurol Sci, 2014 Pubmed_ID: 24510153" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406117" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406118" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406119" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406120" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406121" "0" "99" "12" "49579044" "49579044" "subst" "0" "02267" "TUBA1A_000069" "g.49579044C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185261C>T" "" "pathogenic" "ACMG" "0000406122" "0" "99" "12" "49580131" "49580131" "subst" "0" "02267" "TUBA1A_000125" "g.49580131C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49186348C>T" "" "pathogenic" "ACMG" "0000406123" "0" "99" "12" "49578924" "49578924" "subst" "0" "02267" "TUBA1A_000053" "g.49578924C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185141C>T" "" "pathogenic" "ACMG" "0000406124" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406125" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406126" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406127" "0" "99" "12" "49580101" "49580101" "subst" "0" "02267" "TUBA1A_000123" "g.49580101G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49186318G>A" "" "pathogenic" "ACMG" "0000406128" "0" "99" "12" "49578963" "49578963" "subst" "0" "02267" "TUBA1A_000059" "g.49578963C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185180C>A" "" "pathogenic" "ACMG" "0000406129" "0" "77" "12" "49579092" "49579092" "subst" "0" "02267" "TUBA1A_000073" "g.49579092C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185309C>T" "" "likely pathogenic" "ACMG" "0000406130" "0" "99" "12" "49580541" "49580541" "subst" "0" "02267" "TUBA1A_000142" "g.49580541C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Shimojima 2014:25053001}" "" "" "identified_by: Shimojima BMC Res Notes, 2014 Pubmed_ID: 25053001" "Germline" "yes" "" "0" "" "" "g.49186758C>G" "" "pathogenic" "ACMG" "0000406131" "0" "77" "12" "49579494" "49579494" "subst" "0" "02267" "TUBA1A_000100" "g.49579494T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Oegema 2015:26130693}" "" "" "identified_by: Oegema Hum Mol Genet, 2015 Pubmed_ID: 26130693" "Germline" "yes" "" "0" "" "" "g.49185711T>C" "" "likely pathogenic" "ACMG" "0000406132" "0" "99" "12" "49579508" "49579508" "subst" "0" "02267" "TUBA1A_000005" "g.49579508C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Oegema 2015:26130693}" "" "" "identified_by: Oegema Hum Mol Genet, 2015 Pubmed_ID: 26130693" "Germline" "yes" "" "0" "" "" "g.49185725C>T" "" "pathogenic" "ACMG" "0000406133" "0" "99" "12" "49580430" "49580430" "subst" "0" "02267" "TUBA1A_000134" "g.49580430G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Yokoi 2015:26493046}" "" "" "identified_by: Yokoi Sci Rep, 2015 Pubmed_ID: 26493046" "Germline" "yes" "" "0" "" "" "g.49186647G>A" "" "pathogenic" "ACMG" "0000406134" "0" "99" "12" "49580546" "49580546" "subst" "0" "02267" "TUBA1A_000143" "g.49580546C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Yokoi 2015:26493046}" "" "" "identified_by: Yokoi Sci Rep, 2015 Pubmed_ID: 26493046" "Germline" "yes" "" "0" "" "" "g.49186763C>A" "" "pathogenic" "ACMG" "0000406135" "0" "99" "12" "49579341" "49579341" "subst" "0" "02267" "TUBA1A_000091" "g.49579341C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Myers 2015:26294046}" "" "" "identified_by: Myers Pediatric Neurology, 2015 Pubmed_ID: 26294046" "Germline" "yes" "" "0" "" "" "g.49185558C>A" "" "pathogenic" "ACMG" "0000406136" "0" "99" "12" "49579163" "49579163" "subst" "0" "02267" "TUBA1A_000079" "g.49579163T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bamba 2016:27431206}" "" "" "identified_by: Bamba Mol Brain, 2016 Pubmed_ID: 27431206" "Germline" "yes" "" "0" "" "" "g.49185380T>C" "" "pathogenic" "ACMG" "0000406137" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bamba 2016:27431206}" "" "" "identified_by: Bamba Mol Brain, 2016 Pubmed_ID: 27431206" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406138" "0" "99" "12" "49580616" "49580616" "subst" "0" "02267" "TUBA1A_000149" "g.49580616G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186833G>T" "" "pathogenic" "ACMG" "0000406139" "0" "99" "12" "49580459" "49580459" "subst" "0" "02267" "TUBA1A_000001" "g.49580459C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186676C>T" "" "pathogenic" "ACMG" "0000406140" "0" "99" "12" "49580459" "49580459" "subst" "0" "02267" "TUBA1A_000001" "g.49580459C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186676C>T" "" "pathogenic" "ACMG" "0000406141" "0" "99" "12" "49580459" "49580459" "subst" "0" "02267" "TUBA1A_000001" "g.49580459C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186676C>T" "" "pathogenic" "ACMG" "0000406142" "0" "99" "12" "49580445" "49580445" "subst" "0" "02267" "TUBA1A_000009" "g.49580445C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186662C>T" "" "pathogenic" "ACMG" "0000406143" "0" "99" "12" "49580116" "49580116" "subst" "0" "02267" "TUBA1A_000008" "g.49580116C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186333C>G" "" "pathogenic" "ACMG" "0000406144" "0" "99" "12" "49580100" "49580100" "subst" "0" "02267" "TUBA1A_000007" "g.49580100C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49186317C>T" "" "pathogenic" "ACMG" "0000406145" "0" "99" "12" "49579700" "49579700" "subst" "0" "02267" "TUBA1A_000006" "g.49579700G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185917G>A" "" "pathogenic" "ACMG" "0000406146" "0" "99" "12" "49579700" "49579700" "subst" "0" "02267" "TUBA1A_000006" "g.49579700G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185917G>A" "" "pathogenic" "ACMG" "0000406147" "0" "99" "12" "49579508" "49579508" "subst" "0" "02267" "TUBA1A_000005" "g.49579508C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185725C>T" "" "pathogenic" "ACMG" "0000406148" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406149" "0" "99" "12" "49578989" "49578989" "subst" "0" "02267" "TUBA1A_000003" "g.49578989G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185206G>A" "" "pathogenic" "ACMG" "0000406150" "0" "99" "12" "49578980" "49578980" "subst" "0" "02267" "TUBA1A_000002" "g.49578980C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185197C>T" "" "pathogenic" "ACMG" "0000406151" "0" "99" "12" "49578980" "49578980" "subst" "0" "02267" "TUBA1A_000002" "g.49578980C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Romaniello 2017:28677066}" "" "" "identified_by: Romaniello Eur Radiol, 2017 Pubmed_ID: 28677066" "Germline" "yes" "" "0" "" "" "g.49185197C>T" "" "pathogenic" "ACMG" "0000406152" "0" "99" "12" "49580148" "49580148" "subst" "0" "02267" "TUBA1A_000126" "g.49580148T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Mencarelli 2017:29109381}" "" "" "identified_by: Mencarelli J. Mol. Sci, 2017 Pubmed_ID: 29109381" "Germline" "yes" "" "0" "" "" "g.49186365T>C" "" "pathogenic" "ACMG" "0000406153" "0" "99" "12" "49579631" "49579631" "subst" "0" "02267" "TUBA1A_000038" "g.49579631G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Erlangen Erlangen:NA}" "" "" "identified_by: Erlangen Pubmed_ID: NA" "Germline" "yes" "" "0" "" "" "g.49185848G>A" "" "pathogenic" "ACMG" "0000406154" "0" "99" "12" "49578842" "49578842" "subst" "0" "02267" "TUBA1A_000044" "g.49578842C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Erlangen Erlangen:NA}" "" "" "identified_by: Erlangen Pubmed_ID: NA" "Germline" "yes" "" "0" "" "" "g.49185059C>T" "" "pathogenic" "ACMG" "0000406155" "0" "99" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000056" "g.49578945G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Human Mutation, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185162G>A" "" "pathogenic" "ACMG" "0000406156" "0" "77" "12" "49579293" "49579293" "subst" "0" "02267" "TUBA1A_000088" "g.49579293G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Human Mutation, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185510G>A" "" "likely pathogenic" "ACMG" "0000406157" "0" "99" "12" "49579362" "49579362" "subst" "0" "02267" "TUBA1A_000093" "g.49579362G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Poirier 2007:17584854}" "" "" "identified_by: Poirier Human Mutation, 2007 Pubmed_ID: 17584854" "Germline" "yes" "" "0" "" "" "g.49185579G>T" "" "pathogenic" "ACMG" "0000406158" "0" "77" "12" "49579437" "49579437" "subst" "0" "02267" "TUBA1A_000096" "g.49579437T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Fallet-Bianco 2008:18669490}" "" "" "identified_by: Fallet-Bianco Brain, 2008 Pubmed_ID: 18669490" "Germline" "yes" "" "0" "" "" "g.49185654T>C" "" "likely pathogenic" "ACMG" "0000406159" "0" "99" "12" "49579241" "49579241" "subst" "0" "02267" "TUBA1A_000086" "g.49579241A>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Lecourtois 2010:20376468}" "" "" "identified_by: Lecourtois Acta_Neuropathol, 2010 Pubmed_ID: 20376468" "Germline" "yes" "" "0" "" "" "g.49185458A>C" "" "pathogenic" "ACMG" "0000406160" "0" "99" "12" "49580194" "49580194" "subst" "0" "02267" "TUBA1A_000129" "g.49580194G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Kumar 2010:20466733}" "" "" "identified_by: Kumar Hum Mol Genet, 2010 Pubmed_ID: 20466733" "Germline" "yes" "" "0" "" "" "g.49186411G>C" "" "pathogenic" "ACMG" "0000406161" "0" "99" "12" "49579171" "49579171" "subst" "0" "02267" "TUBA1A_000080" "g.49579171T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185388T>G" "" "pathogenic" "ACMG" "0000406162" "0" "99" "12" "49578864" "49578864" "subst" "0" "02267" "TUBA1A_000047" "g.49578864C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185081C>G" "" "pathogenic" "ACMG" "0000406163" "0" "99" "12" "49579190" "49579190" "subst" "0" "02267" "TUBA1A_000082" "g.49579190C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185407C>T" "" "pathogenic" "ACMG" "0000406164" "0" "99" "12" "49580453" "49580453" "subst" "0" "02267" "TUBA1A_000136" "g.49580453G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49186670G>A" "" "pathogenic" "ACMG" "0000406165" "0" "99" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000004" "g.49579359G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185576G>A" "" "pathogenic" "ACMG" "0000406166" "0" "99" "12" "49579037" "49579037" "subst" "0" "02267" "TUBA1A_000068" "g.49579037A>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185254A>T" "" "pathogenic" "ACMG" "0000406167" "0" "99" "12" "49580166" "49580166" "subst" "0" "02267" "TUBA1A_000127" "g.49580166T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49186383T>C" "" "pathogenic" "ACMG" "0000406168" "0" "99" "12" "49578944" "49578944" "subst" "0" "02267" "TUBA1A_000027" "g.49578944C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185161C>T" "" "pathogenic" "ACMG" "0000406169" "0" "99" "12" "49578884" "49578884" "subst" "0" "02267" "TUBA1A_000049" "g.49578884C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185101C>T" "" "pathogenic" "ACMG" "0000406170" "0" "99" "12" "49580406" "49580406" "subst" "0" "02267" "TUBA1A_000132" "g.49580406G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49186623G>A" "" "pathogenic" "ACMG" "0000406171" "0" "99" "12" "49578923" "49578923" "subst" "0" "02267" "TUBA1A_000052" "g.49578923A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185140A>G" "" "pathogenic" "ACMG" "0000406172" "0" "99" "12" "49579508" "49579508" "subst" "0" "02267" "TUBA1A_000005" "g.49579508C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185725C>T" "" "pathogenic" "ACMG" "0000406173" "0" "99" "12" "49579676" "49579676" "subst" "0" "02267" "TUBA1A_000113" "g.49579676G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Bahi-Buisson 2014:24860126}" "" "" "identified_by: Bahi-Buisson Brain, 2014 Pubmed_ID: 24860126" "Germline" "yes" "" "0" "" "" "g.49185893G>A" "" "pathogenic" "ACMG" "0000406174" "0" "99" "12" "49579190" "49579190" "subst" "0" "02267" "TUBA1A_000082" "g.49579190C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Fallet-Bianco 2014:25059107}" "" "" "identified_by: Fallet-Bianco Acta Neuropathol Commun, 2014 Pubmed_ID: 25059107" "Germline" "yes" "" "0" "" "" "g.49185407C>T" "" "pathogenic" "ACMG" "0000406175" "0" "77" "12" "49578809" "49578809" "del" "0" "02267" "TUBA1A_000043" "g.49578809del" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:de 2012:NA}" "" "" "identified_by: de Ligt N Engl J Med, 2012" "Germline" "yes" "" "0" "" "" "g.49185026del" "" "likely pathogenic" "ACMG" "0000406176" "0" "99" "12" "49580185" "49580185" "subst" "0" "02267" "TUBA1A_000128" "g.49580185C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Helbig 2016:NA}" "" "" "identified_by: Helbig Genet Med, 2016" "Germline" "yes" "" "0" "" "" "g.49186402C>A" "" "pathogenic" "ACMG" "0000406177" "0" "99" "12" "49579631" "49579631" "subst" "0" "02267" "TUBA1A_000038" "g.49579631G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Iossifov 2014:NA}" "" "" "identified_by: Iossifov Nature, 2014" "Germline" "yes" "" "0" "" "" "g.49185848G>A" "" "pathogenic" "ACMG" "0000406178" "0" "99" "12" "49580405" "49580405" "subst" "0" "02267" "TUBA1A_000131" "g.49580405G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Lelieveld 2016:NA}" "" "" "identified_by: Lelieveld Nat Neurosci, 2016" "Germline" "yes" "" "0" "" "" "g.49186622G>C" "" "pathogenic" "ACMG" "0000406179" "0" "77" "12" "49578845" "49578845" "subst" "0" "02267" "TUBA1A_000046" "g.49578845A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185062A>G" "" "likely pathogenic" "ACMG" "0000406180" "0" "77" "12" "49578903" "49578903" "subst" "0" "02267" "TUBA1A_000010" "g.49578903C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185120C>T" "" "likely pathogenic" "ACMG" "0000406181" "0" "55" "12" "49578925" "49578925" "subst" "0" "02267" "TUBA1A_000054" "g.49578925G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Posey 2016:NA}" "" "" "identified_by: Posey Genet Med, 2016" "Germline" "yes" "" "0" "" "" "g.49185142G>T" "" "VUS" "ACMG" "0000406182" "0" "77" "12" "49578945" "49578945" "subst" "0" "02267" "TUBA1A_000057" "g.49578945G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185162G>T" "" "likely pathogenic" "ACMG" "0000406183" "0" "99" "12" "49578972" "49578972" "subst" "0" "02267" "TUBA1A_000060" "g.49578972G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185189G>A" "" "pathogenic" "ACMG" "0000406184" "0" "77" "12" "49578980" "49578980" "subst" "0" "02267" "TUBA1A_000061" "g.49578980C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185197C>G" "" "likely pathogenic" "ACMG" "0000406185" "0" "99" "12" "49579001" "49579001" "subst" "0" "02267" "TUBA1A_000064" "g.49579001G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185218G>T" "" "pathogenic" "ACMG" "0000406186" "0" "99" "12" "49579001" "49579001" "subst" "0" "02267" "TUBA1A_000065" "g.49579001G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185218G>A" "" "pathogenic" "ACMG" "0000406187" "0" "77" "12" "49579005" "49579005" "subst" "0" "02267" "TUBA1A_000066" "g.49579005T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185222T>C" "" "likely pathogenic" "ACMG" "0000406188" "0" "77" "12" "49579020" "49579020" "subst" "0" "02267" "TUBA1A_000067" "g.49579020T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185237T>C" "" "likely pathogenic" "ACMG" "0000406189" "0" "77" "12" "49579058" "49579058" "subst" "0" "02267" "TUBA1A_000071" "g.49579058G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185275G>C" "" "likely pathogenic" "ACMG" "0000406190" "0" "77" "12" "49579073" "49579073" "subst" "0" "02267" "TUBA1A_000072" "g.49579073G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185290G>A" "" "likely pathogenic" "ACMG" "0000406191" "0" "77" "12" "49579154" "49579154" "subst" "0" "02267" "TUBA1A_000078" "g.49579154A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185371A>G" "" "likely pathogenic" "ACMG" "0000406192" "0" "77" "12" "49579179" "49579179" "subst" "0" "02267" "TUBA1A_000081" "g.49579179C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185396C>G" "" "likely pathogenic" "ACMG" "0000406193" "0" "77" "12" "49579230" "49579230" "subst" "0" "02267" "TUBA1A_000084" "g.49579230G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185447G>A" "" "likely pathogenic" "ACMG" "0000406194" "0" "77" "12" "49579262" "49579262" "subst" "0" "02267" "TUBA1A_000087" "g.49579262A>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185479A>G" "" "likely pathogenic" "ACMG" "0000406195" "0" "77" "12" "49579334" "49579334" "subst" "0" "02267" "TUBA1A_000089" "g.49579334T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185551T>C" "" "likely pathogenic" "ACMG" "0000406196" "0" "77" "12" "49579358" "49579358" "subst" "0" "02267" "TUBA1A_000034" "g.49579358C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Alby 2016:NA}" "" "" "identified_by: Alby Birth Defects Res A Clin Mol Teratol, 2016" "Germline" "yes" "" "0" "" "" "g.49185575C>T" "" "likely pathogenic" "ACMG" "0000406197" "0" "77" "12" "49579359" "49579359" "subst" "0" "02267" "TUBA1A_000092" "g.49579359G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185576G>C" "" "likely pathogenic" "ACMG" "0000406198" "0" "77" "12" "49579434" "49579434" "subst" "0" "02267" "TUBA1A_000095" "g.49579434T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185651T>G" "" "likely pathogenic" "ACMG" "0000406199" "0" "77" "12" "49579451" "49579451" "subst" "0" "02267" "TUBA1A_000098" "g.49579451T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185668T>C" "" "likely pathogenic" "ACMG" "0000406200" "0" "77" "12" "49579497" "49579497" "subst" "0" "02267" "TUBA1A_000102" "g.49579497C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185714C>T" "" "likely pathogenic" "ACMG" "0000406201" "0" "77" "12" "49579508" "49579508" "subst" "0" "02267" "TUBA1A_000103" "g.49579508C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185725C>A" "" "likely pathogenic" "ACMG" "0000406202" "0" "77" "12" "49579553" "49579553" "subst" "0" "02267" "TUBA1A_000106" "g.49579553T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185770T>C" "" "likely pathogenic" "ACMG" "0000406203" "0" "77" "12" "49579668" "49579668" "subst" "0" "02267" "TUBA1A_000112" "g.49579668A>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185885A>C" "" "likely pathogenic" "ACMG" "0000406204" "0" "77" "12" "49579694" "49579694" "subst" "0" "02267" "TUBA1A_000114" "g.49579694A>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185911A>T" "" "likely pathogenic" "ACMG" "0000406205" "0" "77" "12" "49579722" "49579722" "subst" "0" "02267" "TUBA1A_000116" "g.49579722C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185939C>T" "" "likely pathogenic" "ACMG" "0000406206" "0" "77" "12" "49579725" "49579725" "subst" "0" "02267" "TUBA1A_000117" "g.49579725C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185942C>A" "" "likely pathogenic" "ACMG" "0000406207" "0" "77" "12" "49579770" "49579770" "subst" "0" "02267" "TUBA1A_000122" "g.49579770C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185987C>T" "" "likely pathogenic" "ACMG" "0000406208" "0" "99" "12" "49580116" "49580116" "subst" "0" "02267" "TUBA1A_000124" "g.49580116C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186333C>T" "" "pathogenic" "ACMG" "0000406209" "0" "77" "12" "49580199" "49580199" "subst" "0" "02267" "TUBA1A_000130" "g.49580199T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186416T>C" "" "likely pathogenic" "ACMG" "0000406210" "0" "77" "12" "49580458" "49580458" "subst" "0" "02267" "TUBA1A_000138" "g.49580458A>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186675A>T" "" "likely pathogenic" "ACMG" "0000406211" "0" "77" "12" "49580468" "49580468" "subst" "0" "02267" "TUBA1A_000139" "g.49580468G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186685G>A" "" "likely pathogenic" "ACMG" "0000406212" "0" "77" "12" "49580481" "49580481" "subst" "0" "02267" "TUBA1A_000140" "g.49580481C>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186698C>G" "" "likely pathogenic" "ACMG" "0000406213" "0" "77" "12" "49580538" "49580538" "subst" "0" "02267" "TUBA1A_000141" "g.49580538G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186755G>A" "" "likely pathogenic" "ACMG" "0000406214" "0" "77" "12" "49580567" "49580567" "subst" "0" "02267" "TUBA1A_000144" "g.49580567T>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186784T>C" "" "likely pathogenic" "ACMG" "0000406215" "0" "77" "12" "49580603" "49580603" "subst" "0" "02267" "TUBA1A_000147" "g.49580603G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186820G>C" "" "likely pathogenic" "ACMG" "0000406216" "0" "77" "12" "49580615" "49580615" "subst" "0" "02267" "TUBA1A_000020" "g.49580615C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49186832C>T" "" "likely pathogenic" "ACMG" "0000406217" "0" "77" "12" "49578981" "49578981" "subst" "0" "02267" "TUBA1A_000063" "g.49578981G>C" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185198G>C" "" "likely pathogenic" "ACMG" "0000406218" "0" "77" "12" "49579124" "49579124" "subst" "0" "02267" "TUBA1A_000075" "g.49579124T>G" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185341T>G" "" "likely pathogenic" "ACMG" "0000406219" "0" "77" "12" "49579233" "49579233" "subst" "0" "02267" "TUBA1A_000085" "g.49579233C>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185450C>A" "" "likely pathogenic" "ACMG" "0000406220" "0" "77" "12" "49579628" "49579628" "subst" "0" "02267" "TUBA1A_000110" "g.49579628G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185845G>A" "" "likely pathogenic" "ACMG" "0000406231" "0" "99" "12" "49579229" "49579229" "subst" "0" "02267" "TUBA1A_000083" "g.49579229G>A" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Wiszniewski 2018:29706646}" "" "" "identified_by: Wiszniewski Eur J Hum Genet, 2018 Pubmed_ID: 29706646" "Germline" "yes" "" "0" "" "" "g.49185446G>A" "" "pathogenic" "ACMG" "0000406232" "0" "99" "12" "49579768" "49579768" "subst" "0" "02267" "TUBA1A_000121" "g.49579768G>T" "" "{DOI:Hebebrand 2018:10.1101/427948}, {PMID:Sato 2018:29907476}" "" "" "identified_by: Sato et al Brain Dev, 2018 Pubmed_ID: 29907476" "Germline" "yes" "" "0" "" "" "g.49185985G>T" "" "pathogenic" "ACMG" "0000406233" "0" "77" "12" "49579094" "49579094" "subst" "0" "02267" "TUBA1A_000074" "g.49579094T>A" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185311T>A" "" "likely pathogenic" "ACMG" "0000406234" "0" "77" "12" "49579725" "49579725" "subst" "0" "02267" "TUBA1A_000118" "g.49579725C>T" "" "{DOI:Hebebrand 2018:10.1101/427948}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49185942C>T" "" "likely pathogenic" "ACMG" "0000407944" "0" "90" "12" "49578809" "49578809" "del" "0" "00006" "TUBA1A_000043" "g.49578809del" "" "{PMID:de Ligt 2012:23033978}" "" "NM_006009.2:c.1341del (Gly448Glufs*36)" "" "De novo" "" "" "0" "" "" "g.49185026del" "" "pathogenic" "" "0000548403" "0" "30" "12" "49578820" "49578820" "subst" "8.52736E-5" "01943" "TUBA1A_000150" "g.49578820C>T" "" "" "" "TUBA1A(NM_001270399.1):c.1329G>A (p.E443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185037C>T" "" "likely benign" "" "0000548404" "0" "70" "12" "49578864" "49578864" "subst" "0" "02327" "TUBA1A_000151" "g.49578864C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185081C>T" "" "likely pathogenic" "" "0000548405" "0" "30" "12" "49578925" "49578925" "subst" "1.21818E-5" "01943" "TUBA1A_000152" "g.49578925G>A" "" "" "" "TUBA1A(NM_001270399.1):c.1224C>T (p.Y408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185142G>A" "" "likely benign" "" "0000548406" "0" "90" "12" "49578944" "49578944" "subst" "0" "02327" "TUBA1A_000027" "g.49578944C>T" "" "" "" "TUBA1A(NM_006009.3):c.1205G>A (p.R402H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185161C>T" "" "pathogenic" "" "0000548407" "0" "70" "12" "49578945" "49578945" "subst" "0" "01943" "TUBA1A_000056" "g.49578945G>A" "" "" "" "TUBA1A(NM_001270399.1):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185162G>A" "" "likely pathogenic" "" "0000548408" "0" "70" "12" "49578992" "49578992" "subst" "0" "02327" "TUBA1A_000153" "g.49578992T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185209T>A" "" "likely pathogenic" "" "0000548409" "0" "70" "12" "49579182" "49579182" "subst" "0" "01804" "TUBA1A_000030" "g.49579182C>T" "" "" "" "TUBA1A(NM_001270399.1):c.967G>A (p.(Val323Met)), TUBA1A(NM_001270399.2):c.967G>A (p.V323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185399C>T" "" "likely pathogenic" "" "0000548410" "0" "50" "12" "49579331" "49579331" "subst" "0" "02327" "TUBA1A_000154" "g.49579331G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185548G>C" "" "VUS" "" "0000548411" "0" "70" "12" "49579481" "49579481" "subst" "0" "02327" "TUBA1A_000155" "g.49579481G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185698G>T" "" "likely pathogenic" "" "0000548412" "0" "70" "12" "49579497" "49579497" "subst" "0" "02327" "TUBA1A_000102" "g.49579497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185714C>T" "" "likely pathogenic" "" "0000548413" "0" "30" "12" "49579630" "49579630" "subst" "4.06088E-6" "01943" "TUBA1A_000156" "g.49579630C>T" "" "" "" "TUBA1A(NM_001270399.1):c.519G>A (p.P173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185847C>T" "" "likely benign" "" "0000548414" "0" "70" "12" "49579631" "49579631" "subst" "0" "01804" "TUBA1A_000038" "g.49579631G>A" "" "" "" "TUBA1A(NM_001270399.2):c.518C>T (p.P173L), TUBA1A(NM_006009.3):c.518C>T (p.(Pro173Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185848G>A" "" "likely pathogenic" "" "0000548415" "0" "30" "12" "49579771" "49579771" "subst" "9.34815E-5" "01804" "TUBA1A_000157" "g.49579771G>A" "" "" "" "TUBA1A(NM_001270399.1):c.378C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185988G>A" "" "likely benign" "" "0000548418" "0" "30" "12" "49580542" "49580542" "subst" "4.06078E-6" "02327" "TUBA1A_000158" "g.49580542C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49186759C>T" "" "likely benign" "" "0000614201" "0" "90" "12" "49578980" "49578980" "subst" "0" "02327" "TUBA1A_000002" "g.49578980C>T" "" "" "" "TUBA1A(NM_001270399.2):c.1169G>A (p.R390H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185197C>T" "" "pathogenic" "" "0000614203" "0" "70" "12" "49579521" "49579521" "subst" "0" "02327" "TUBA1A_000160" "g.49579521A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185738A>T" "" "likely pathogenic" "" "0000614204" "0" "70" "12" "49579635" "49579635" "subst" "0" "02327" "TUBA1A_000161" "g.49579635A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185852A>C" "" "likely pathogenic" "" "0000614205" "0" "70" "12" "49580480" "49580480" "subst" "0" "02327" "TUBA1A_000163" "g.49580480T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49186697T>C" "" "likely pathogenic" "" "0000622912" "0" "90" "12" "49579640" "49579640" "subst" "0" "01943" "TUBA1A_000162" "g.49579640G>C" "" "" "" "TUBA1A(NM_001270399.1):c.509C>G (p.S170C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49185857G>C" "" "pathogenic" "" "0000622913" "0" "70" "12" "49580101" "49580101" "subst" "0" "01943" "TUBA1A_000123" "g.49580101G>A" "" "" "" "TUBA1A(NM_001270399.1):c.367C>T (p.R123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49186318G>A" "" "likely pathogenic" "" "0000622914" "0" "70" "12" "49580573" "49580573" "subst" "0" "02325" "TUBA1A_000164" "g.49580573A>G" "" "" "" "TUBA1A(NM_001270399.2):c.47T>C (p.I16T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49186790A>G" "" "likely pathogenic" "" "0000622915" "0" "30" "12" "49580623" "49580623" "subst" "0.000117808" "01943" "TUBA1A_000165" "g.49580623G>A" "" "" "" "TUBA1A(NM_001270399.1):c.4-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49186840G>A" "" "likely benign" "" "0000648586" "1" "90" "12" "49578884" "49578884" "subst" "0" "03575" "TUBA1A_000049" "g.49578884C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs137853050}" "Germline" "" "rs137853050" "0" "" "" "g.49185101C>T" "" "pathogenic" "" "0000667571" "0" "90" "12" "49580185" "49580185" "subst" "0" "00006" "TUBA1A_000128" "g.49580185C>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.49186402C>A" "" "pathogenic (dominant)" "ACMG" "0000679558" "0" "50" "12" "49579022" "49579022" "subst" "0" "01943" "TUBA1A_000167" "g.49579022C>T" "" "" "" "TUBA1A(NM_001270399.1):c.1127G>A (p.C376Y), TUBA1A(NM_001270399.2):c.1127G>A (p.C376Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679559" "0" "50" "12" "49579022" "49579022" "subst" "0" "02325" "TUBA1A_000167" "g.49579022C>T" "" "" "" "TUBA1A(NM_001270399.1):c.1127G>A (p.C376Y), TUBA1A(NM_001270399.2):c.1127G>A (p.C376Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679560" "0" "90" "12" "49579493" "49579493" "subst" "0" "02327" "TUBA1A_000168" "g.49579493A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679561" "0" "70" "12" "49580448" "49580448" "subst" "0" "02327" "TUBA1A_000169" "g.49580448C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683393" "0" "70" "12" "49578884" "49578884" "subst" "0" "00006" "TUBA1A_000049" "g.49578884C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs137853050" "0" "" "" "g.49185101C>T" "" "likely pathogenic (dominant)" "" "0000691358" "0" "50" "12" "49579760" "49579760" "subst" "0" "01943" "TUBA1A_000170" "g.49579760G>A" "" "" "" "TUBA1A(NM_001270399.1):c.389C>T (p.T130M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000694783" "0" "50" "12" "49579682" "49579682" "subst" "0" "03813" "TUBA1A_000171" "g.49579682C>T" "" "" "" "" "Note on variant classification: Variants were classified using ACMG criteria (Richards et al., 2015) in November of 2020. These criteria are not applicable for novel gene identification and have limited utility for significant novel phenotype expansion. Classification is provided for established TUBA1A-associated tubulinopathy phenotypes, but excludes novel phenotype expansions (e.g. CFEOM) which are not yet well established in association with TUBA1A variants." "De novo" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000694785" "0" "50" "12" "49578933" "49578933" "subst" "0" "03813" "TUBA1A_000172" "g.49578933G>C" "" "" "" "" "This variant was classified using ACMG criteria (Richards et al., 2015) in November of 2020. These criteria are not applicable for novel gene identification and have limited utility for significant novel phenotype expansion. Classification is provided for established TUBA1A-associated tubulinopathy phenotypes, but excludes novel phenotypes that have been observed in the proband with this variant but are not yet well established in association with TUBA1A variants, e.g. congenital fibrosis of the extraocular muscles." "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000694796" "0" "50" "12" "49578956" "49578956" "subst" "0" "03813" "TUBA1A_000173" "g.49578956A>C" "" "" "" "" "This variant was classified using ACMG criteria (Richards et al., 2015) in November of 2020. These criteria are not applicable for novel gene identification and have limited utility for significant novel phenotype expansion. Classification is provided for established TUBA1A-associated tubulinopathy phenotypes, but excludes novel phenotypes that have been observed in the proband with this variant but are not yet well established in association with TUBA1A variants, e.g. congenital fibrosis of the extraocular muscles." "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000724094" "0" "70" "12" "49579163" "49579163" "subst" "0" "02327" "TUBA1A_000079" "g.49579163T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000786660" "0" "70" "12" "49579190" "49579190" "subst" "0" "00006" "TUBA1A_000082" "g.49579190C>T" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49185407C>T" "" "likely pathogenic" "" "0000788893" "0" "70" "12" "49580615" "49580615" "subst" "0" "00006" "TUBA1A_000020" "g.49580615C>T" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "De novo" "" "" "0" "" "" "g.49186832C>T" "" "likely pathogenic" "" "0000797056" "0" "90" "12" "49580116" "49580116" "subst" "0" "01164" "TUBA1A_000124" "g.49580116C>T" "" "PMID: 30744660, PMID: 25326637" "" "" "ACMG: PS2_VSTR, PM5, PM2_SUP, PP2, PP3" "Germline/De novo (untested)" "?" "" "" "" "" "" "VCV000217023.2" "pathogenic (dominant)" "ACMG" "0000805783" "0" "50" "12" "49579512" "49579512" "subst" "0" "01943" "TUBA1A_000174" "g.49579512A>G" "" "" "" "TUBA1A(NM_001270399.1):c.637T>C (p.C213R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805784" "0" "70" "12" "49579539" "49579539" "subst" "0" "01943" "TUBA1A_000175" "g.49579539C>T" "" "" "" "TUBA1A(NM_001270399.1):c.610G>A (p.V204I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000821067" "0" "90" "12" "49579684" "49579684" "" "0" "00006" "TUBA1A_000176" "g.49579684T>R" "" "{PMID:Nissenkorn 2021:33413009}" "" "Glu155Asp" "" "De novo" "" "" "0" "" "" "g.49185901T>R" "" "pathogenic (dominant)" "" "0000824016" "0" "50" "12" "49579182" "49579182" "subst" "0" "02494" "TUBA1A_000030" "g.49579182C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000827809" "0" "70" "12" "49580166" "49580166" "subst" "0" "01164" "TUBA1A_000127" "g.49580166T>C" "" "PMID: 25059107 PMID: 30016746" "" "" "ACMG: PS2, PS4_SUP, PM2_SUP, PP2, PP3" "De novo" "yes" "" "" "" "" "" "VCV000625515.1" "likely pathogenic (dominant)" "ACMG" "0000843721" "0" "90" "12" "49579631" "49579631" "subst" "0" "01164" "TUBA1A_000038" "g.49579631G>A" "" "" "" "" "ACMG: PS2_VSTR, PM2_SUP, PP2, PP3; PMID: 30744660, 22495306, 25363768: detected multiple times de novo" "Germline/De novo (untested)" "?" "" "0" "" "" "" "VCV000625511.6" "pathogenic (dominant)" "ACMG" "0000853423" "0" "90" "12" "49578924" "49578924" "subst" "0" "02327" "TUBA1A_000053" "g.49578924C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863021" "0" "50" "12" "49579290" "49579290" "subst" "0" "01943" "TUBA1A_000159" "g.49579290A>T" "" "" "" "TUBA1A(NM_006009.3):c.859T>A (p.S287T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890634" "0" "70" "12" "49579748" "49579748" "subst" "0" "02329" "TUBA1A_000177" "g.49579748C>T" "" "" "" "TUBA1A(NM_001270399.2):c.401G>A (p.G134D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908888" "0" "70" "12" "49582757" "49582757" "del" "0" "00006" "TUBA1A_000178" "g.49582757del" "" "{PMID:Bournazos 2022:34906502}" "" "" "RNA analysis suggests alternative transcription initiation" "De novo" "" "" "0" "" "" "g.49188974del" "" "likely pathogenic (dominant)" "" "0000913869" "0" "70" "12" "49580436" "49580436" "subst" "0" "02329" "TUBA1A_000179" "g.49580436C>T" "" "" "" "TUBA1A(NM_001270399.2):c.184G>A (p.V62M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000920692" "0" "90" "12" "49580615" "49580615" "subst" "0" "00006" "TUBA1A_000020" "g.49580615C>T" "" "{PMID:Duerinckx 2020:31696992}, {PMID:Duerinckx 2021:34402213}" "" "" "" "De novo" "" "" "0" "" "" "g.49186832C>T" "" "pathogenic (dominant)" "" "0000925645" "0" "90" "12" "49579631" "49579631" "subst" "0" "02327" "TUBA1A_000038" "g.49579631G>A" "" "" "" "TUBA1A(NM_001270399.2):c.518C>T (p.P173L), TUBA1A(NM_006009.3):c.518C>T (p.(Pro173Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949979" "0" "70" "12" "49580423" "49580423" "subst" "0" "02327" "TUBA1A_000180" "g.49580423A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000971567" "0" "50" "12" "49580139" "49580139" "subst" "0" "01164" "TUBA1A_000181" "g.49580139A>G" "" "" "" "" "ACMG: PM1, PS2_SUP, PM2_SUP, PP2, PP3; confirmed de novo" "De novo" "-" "" "" "" "" "g.49186356A>G" "" "likely pathogenic (dominant)" "ACMG" "0000986029" "0" "70" "12" "49579508" "49579508" "subst" "0" "00006" "TUBA1A_000005" "g.49579508C>T" "" "{DOI:Steyaert 2024:10.1101/2024.05.03.24305331}" "" "" "" "De novo" "" "" "0" "" "" "g.49185725C>T" "" "likely pathogenic (dominant)" "" "0001000153" "0" "70" "12" "49578947" "49578947" "subst" "0" "02329" "TUBA1A_000182" "g.49578947T>C" "" "" "" "TUBA1A(NM_006009.4):c.1202A>G (p.K401R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000154" "0" "90" "12" "49579446" "49579446" "subst" "0" "01804" "TUBA1A_000097" "g.49579446C>A" "" "" "" "TUBA1A(NM_006009.3):c.703G>T (p.(Val235Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000155" "0" "70" "12" "49579460" "49579460" "subst" "0" "02327" "TUBA1A_000183" "g.49579460A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000156" "0" "70" "12" "49579667" "49579667" "subst" "0" "01804" "TUBA1A_000184" "g.49579667T>C" "" "" "" "TUBA1A(NM_001270399.1):c.482A>G (p.(Tyr161Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000157" "0" "70" "12" "49580124" "49580124" "subst" "0" "01804" "TUBA1A_000011" "g.49580124A>G" "" "" "" "TUBA1A(NM_006009.3):c.344T>C (p.I115T, p.(Ile115Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000158" "0" "50" "12" "49580242" "49580242" "subst" "0" "02329" "TUBA1A_000185" "g.49580242C>A" "" "" "" "TUBA1A(NM_006009.4):c.227-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000159" "0" "70" "12" "49580594" "49580594" "subst" "0" "01804" "TUBA1A_000186" "g.49580594A>G" "" "" "" "TUBA1A(NM_006009.3):c.26T>C (p.(Val9Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001022054" "0" "30" "12" "49580542" "49580542" "subst" "4.06078E-6" "04796" "TUBA1A_000158" "g.49580542C>T" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.49186759C>T" "" "likely benign" "" "0001026192" "0" "70" "12" "49579508" "49579508" "subst" "0" "01943" "TUBA1A_000005" "g.49579508C>T" "" "" "" "TUBA1A(NM_006009.3):c.641G>A (p.R214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027547" "0" "70" "12" "49580565" "49580565" "subst" "0" "00006" "TUBA1A_000187" "g.49580565C>T" "" "{PMID:Boissel 2017:29261186}" "" "" "" "De novo" "" "" "0" "" "" "g.49186782C>T" "" "likely pathogenic (dominant)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TUBA1A ## Count = 270 "{{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}}" "0000163255" "00022117" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Ser54Asn)" "2" "0000163256" "00022117" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Ser54Asn)" "2" "0000163257" "00022117" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Ser54Asn)" "2" "0000163258" "00022117" "70" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Ser)" "2" "0000163259" "00022117" "70" "352" "0" "352" "0" "c.352G>C" "r.(?)" "p.(Val118Leu)" "3" "0000163261" "00022117" "70" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123His)" "3" "0000163262" "00022117" "70" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "4" "0000163263" "00022117" "70" "449" "0" "449" "0" "c.449C>T" "r.(?)" "p.(Thr150Ile)" "4" "0000163264" "00022117" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "4" "0000163265" "00022117" "70" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "4" "0000163266" "00022117" "70" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Ala387Val)" "4" "0000163267" "00022117" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "4" "0000163268" "00022117" "70" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "4" "0000175153" "00022117" "50" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Gly416Ser)" "4" "0000179036" "00022117" "90" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0000253463" "00022117" "10" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(Ser170=)" "" "0000254700" "00022117" "30" "276" "0" "276" "0" "c.276T>C" "r.(?)" "p.(Leu92=)" "" "0000255162" "00022117" "30" "786" "0" "786" "0" "c.786T>C" "r.(?)" "p.(Tyr262=)" "" "0000255995" "00022117" "50" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Ile115Thr)" "" "0000312875" "00022117" "70" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000312876" "00022117" "50" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Val323Met)" "" "0000313584" "00022117" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "0000313585" "00022117" "70" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Ala314Val)" "" "0000315159" "00022117" "70" "937" "0" "937" "0" "c.937A>G" "r.(?)" "p.(Met313Val)" "" "0000319013" "00022117" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Lys336=)" "" "0000319014" "00022117" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "" "0000319015" "00022117" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "" "0000319016" "00022117" "30" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Ile)" "" "0000319017" "00022117" "10" "171" "0" "171" "0" "c.171G>T" "r.(?)" "p.(Gly57=)" "" "0000319018" "00022117" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Pro63=)" "" "0000319019" "00022117" "10" "226" "10" "226" "10" "c.226+10C>T" "r.(=)" "p.(=)" "" "0000319020" "00022117" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(Thr82=)" "" "0000319021" "00022117" "30" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Gln91=)" "" "0000319022" "00022117" "10" "288" "0" "288" "0" "c.288A>G" "r.(?)" "p.(Lys96=)" "" "0000319023" "00022117" "30" "390" "0" "390" "0" "c.390G>C" "r.(?)" "p.(Thr130=)" "" "0000319024" "00022117" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Leu132=)" "" "0000319025" "00022117" "90" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Ser151Trp)" "" "0000319026" "00022117" "10" "453" "0" "453" "0" "c.453G>C" "r.(?)" "p.(Ser151=)" "" "0000319027" "00022117" "10" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Ala174=)" "" "0000319028" "00022117" "90" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Arg2His)" "" "0000319029" "00022117" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Pro263Leu)" "" "0000319030" "00022117" "90" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000319031" "00022117" "30" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(His28=)" "" "0000319032" "00022117" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Asp322=)" "" "0000322837" "00022117" "50" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Asp127Asn)" "" "0000340204" "00022117" "10" "453" "0" "453" "0" "c.453G>C" "r.(?)" "p.(Ser151=)" "" "0000340205" "00022117" "10" "288" "0" "288" "0" "c.288A>G" "r.(?)" "p.(Lys96=)" "" "0000342676" "00022117" "70" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Cys)" "" "0000346680" "00022117" "70" "90" "0" "90" "0" "c.90C>G" "r.(?)" "p.(Ile30Met)" "" "0000346882" "00022117" "50" "394" "0" "394" "0" "c.394C>G" "r.(?)" "p.(Leu132Val)" "" "0000350633" "00022117" "70" "203" "0" "203" "0" "c.203T>C" "r.(?)" "p.(Val68Ala)" "" "0000406070" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "4" "0000406071" "00022117" "99" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "4" "0000406072" "00022117" "99" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "4" "0000406073" "00022117" "99" "562" "0" "562" "0" "c.562A>C" "r.(?)" "p.(Ile188Leu)" "4" "0000406074" "00022117" "99" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Leu)" "4" "0000406075" "00022117" "99" "163" "0" "163" "0" "c.163G>A" "r.(?)" "p.(Glu55Lys)" "2" "0000406076" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406077" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>T" "r.(?)" "p.(Arg402Leu)" "4" "0000406078" "00022117" "99" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422His)" "4" "0000406079" "00022117" "99" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422His)" "4" "0000406080" "00022117" "99" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "4" "0000406081" "00022117" "99" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "4" "0000406082" "00022117" "99" "1190" "0" "1190" "0" "c.1190T>C" "r.(?)" "p.(Leu397Pro)" "4" "0000406083" "00022117" "99" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Cys)" "4" "0000406084" "00022117" "99" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Gly436Arg)" "4" "0000406085" "00022117" "99" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422His)" "4" "0000406086" "00022117" "77" "410" "0" "410" "0" "c.410T>A" "r.(?)" "p.(Val137Asp)" "4" "0000406087" "00022117" "99" "652" "0" "652" "0" "c.652G>T" "r.(?)" "p.(Asp218Tyr)" "4" "0000406088" "00022117" "77" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Ala270Thr)" "4" "0000406089" "00022117" "99" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "4" "0000406090" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406091" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406092" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406093" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406094" "00022117" "99" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "4" "0000406095" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "4" "0000406096" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "4" "0000406097" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "4" "0000406098" "00022117" "99" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "4" "0000406099" "00022117" "77" "1274" "0" "1274" "0" "c.1274T>A" "r.(?)" "p.(Met425Lys)" "4" "0000406100" "00022117" "99" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390Cys)" "4" "0000406101" "00022117" "99" "629" "0" "629" "0" "c.629A>G" "r.(?)" 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"p.(Thr51Ile)" "2" "0000406212" "00022117" "77" "139" "0" "139" "0" "c.139G>C" "r.(?)" "p.(Asp47His)" "2" "0000406213" "00022117" "77" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(His28Tyr)" "2" "0000406214" "00022117" "77" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Asn18Ser)" "2" "0000406215" "00022117" "77" "17" "0" "17" "0" "c.17C>G" "r.(?)" "p.(Ser6Cys)" "2" "0000406216" "00022117" "77" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Arg2His)" "2" "0000406217" "00022117" "77" "1168" "0" "1168" "0" "c.1168C>G" "r.(?)" "p.(Arg390Gly)" "4" "0000406218" "00022117" "77" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(Gln342Pro)" "4" "0000406219" "00022117" "77" "916" "0" "916" "0" "c.916G>T" "r.(?)" "p.(Asp306Tyr)" "4" "0000406220" "00022117" "77" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "4" "0000406231" "00022117" "99" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" "4" "0000406232" "00022117" "99" "381" "0" "381" "0" "c.381C>A" "r.(?)" "p.(Asp127Glu)" "4" "0000406233" "00022117" "77" "1055" "0" "1055" "0" "c.1055A>T" "r.(?)" "(p.Lys352Met)" "4" "0000406234" "00022117" "77" "424" "0" "424" "0" "c.424G>A" "r.(?)" "(p.Gly142Ser)" "4" "0000407944" "00022117" "00" "1341" "0" "1341" "0" "c.1341del" "r.(?)" "p.(Gly448Glufs*36)" "" "0000548403" "00022117" "30" "1329" "0" "1329" "0" "c.1329G>A" "r.(?)" "p.(Glu443=)" "" "0000548404" "00022117" "70" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Glu429Lys)" "" "0000548405" "00022117" "30" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Tyr408=)" "" "0000548406" "00022117" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "" "0000548407" "00022117" "70" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "" "0000548408" "00022117" "70" "1157" "0" "1157" "0" "c.1157A>T" "r.(?)" "p.(Glu386Val)" "" "0000548409" "00022117" "70" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Val323Met)" "" "0000548410" "00022117" "50" "818" "0" "818" "0" "c.818C>G" "r.(?)" "p.(Ala273Gly)" "" "0000548411" "00022117" "70" "668" "0" "668" "0" "c.668C>A" "r.(?)" "p.(Thr223Asn)" "" "0000548412" "00022117" "70" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Asp218Asn)" "" "0000548413" "00022117" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Pro173=)" "" "0000548414" "00022117" "70" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000548415" "00022117" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Ala126=)" "" "0000548418" "00022117" "30" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Leu26=)" "" "0000614201" "00022117" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Arg390His)" "" "0000614203" "00022117" "70" "628" "0" "628" "0" "c.628T>A" "r.(?)" "p.(Tyr210Asn)" "" "0000614204" "00022117" "70" "514" "0" "514" "0" "c.514T>G" "r.(?)" "p.(Tyr172Asp)" "" "0000614205" "00022117" "70" "140" "0" "140" "0" "c.140A>G" "r.(?)" "p.(Asp47Gly)" "" "0000622912" "00022117" "90" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Ser170Cys)" "" "0000622913" "00022117" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Cys)" "" "0000622914" "00022117" "70" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Ile16Thr)" "" "0000622915" "00022117" "30" "4" "-7" "4" "-7" "c.4-7C>T" "r.(=)" "p.(=)" "" "0000648586" "00022117" "90" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422His)" "" "0000667571" "00022117" "90" "283" "0" "283" "0" "c.283G>T" "r.(?)" "p.(Gly95Cys)" "" "0000679558" "00022117" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Cys376Tyr)" "" "0000679559" "00022117" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Cys376Tyr)" "" "0000679560" "00022117" "90" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Ile219Thr)" "" "0000679561" "00022117" "70" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Ala58Thr)" "" "0000683393" "00022117" "70" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422His)" "" "0000691358" "00022117" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Met)" "" "0000694783" "00022117" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156His)" "" "0000694785" "00022117" "50" "1216" "0" "1216" "0" "c.1216C>G" "r.(?)" "p.(His406Asp)" "" "0000694796" "00022117" "50" "1193" "0" "1193" "0" "c.1193T>G" "r.(?)" "p.(Met398Arg)" "" "0000724094" "00022117" "70" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "" "0000786660" "00022117" "70" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320His)" "" "0000788893" "00022117" "70" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Arg2His)" "" "0000797056" "00022117" "90" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Met)" "" "0000805783" "00022117" "50" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "" "0000805784" "00022117" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Ile)" "" "0000821067" "00022117" "90" "465" "0" "465" "0" "c.465A>Y" "r.(?)" "p.(Glu155Asp)" "" "0000824016" "00022117" "50" "967" "0" "967" "0" "c.967G>A" "r.(?)" "p.(Val323Met)" "" "0000827809" "00022117" "70" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Asn101Ser)" "" "0000843721" "00022117" "90" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000853423" "00022117" "90" "1225" "0" "1225" "0" "c.1225G>A" "r.(?)" "p.(Val409Ile)" "" "0000863021" "00022117" "50" "859" "0" "859" "0" "c.859T>A" "r.(?)" "p.(Ser287Thr)" "" "0000890634" "00022117" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Gly134Asp)" "" "0000908888" "00022117" "70" "3" "3" "3" "3" "c.3+3del" "r.0" "p.0" "" "0000913869" "00022117" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "" "0000920692" "00022117" "90" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Arg2His)" "" "0000925645" "00022117" "90" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Pro173Leu)" "" "0000949979" "00022117" "70" "197" "0" "197" "0" "c.197T>C" "r.(?)" "p.(Val66Ala)" "" "0000971567" "00022117" "50" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Ile110Thr)" "" "0000986029" "00022117" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0001000153" "00022117" "70" "1202" "0" "1202" "0" "c.1202A>G" "r.(?)" "p.(Lys401Arg)" "" "0001000154" "00022117" "90" "703" "0" "703" "0" "c.703G>T" "r.(?)" "p.(Val235Leu)" "" "0001000155" "00022117" "70" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Leu230Ser)" "" "0001000156" "00022117" "70" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Tyr161Cys)" "" "0001000157" "00022117" "70" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Ile115Thr)" "" "0001000158" "00022117" "50" "227" "-1" "227" "-1" "c.227-1G>T" "r.spl?" "p.?" "" "0001000159" "00022117" "70" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Val9Ala)" "" "0001022054" "00022117" "30" "78" "0" "78" "0" "c.78G>A" "r.78G>A" "p.Leu26=" "2" "0001026192" "00022117" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214His)" "" "0001027547" "00022117" "70" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 190 "{{screeningid}}" "{{variantid}}" "0000100864" "0000163255" "0000100865" "0000163256" "0000100866" "0000163257" "0000100868" "0000163258" "0000100869" "0000163259" "0000100870" "0000163261" "0000100871" "0000163262" "0000100872" "0000163263" "0000100873" "0000163264" "0000100874" "0000163265" "0000100875" "0000163266" "0000100876" "0000163267" "0000100877" "0000163268" "0000109080" "0000175153" "0000111879" "0000179036" "0000182193" "0000406070" "0000182194" "0000406071" "0000182195" "0000406072" "0000182196" "0000406073" "0000182197" "0000406074" "0000182198" "0000406075" "0000182199" "0000406076" "0000182200" "0000406077" "0000182201" "0000406078" "0000182202" "0000406079" "0000182203" "0000406080" "0000182204" "0000406081" "0000182205" "0000406082" "0000182206" "0000406083" "0000182207" "0000406084" "0000182208" "0000406085" "0000182209" "0000406086" "0000182210" "0000406087" "0000182211" "0000406088" "0000182212" "0000406089" "0000182213" "0000406090" "0000182214" "0000406091" "0000182215" "0000406092" "0000182216" "0000406093" "0000182217" "0000406094" "0000182218" "0000406095" "0000182219" "0000406096" "0000182220" "0000406097" "0000182221" "0000406098" "0000182222" "0000406099" "0000182223" "0000406100" "0000182224" "0000406101" "0000182225" "0000406102" "0000182226" "0000406103" "0000182227" "0000406104" "0000182228" "0000406105" "0000182229" "0000406106" "0000182230" "0000406107" "0000182231" "0000406108" "0000182232" "0000406109" "0000182233" "0000406110" "0000182234" "0000406111" "0000182235" "0000406112" "0000182236" "0000406113" "0000182237" "0000406114" "0000182238" "0000406115" "0000182239" "0000406116" "0000182240" "0000406117" "0000182241" "0000406118" "0000182242" "0000406119" "0000182243" "0000406120" "0000182244" "0000406121" "0000182245" "0000406122" "0000182246" "0000406123" "0000182247" "0000406124" "0000182248" "0000406125" "0000182249" "0000406126" "0000182250" "0000406127" "0000182251" "0000406128" "0000182252" "0000406129" "0000182253" "0000406130" "0000182254" "0000406131" "0000182255" "0000406132" "0000182256" "0000406133" "0000182257" "0000406134" "0000182258" "0000406135" "0000182259" "0000406136" "0000182260" "0000406137" "0000182261" "0000406138" "0000182262" "0000406139" "0000182263" "0000406140" "0000182264" "0000406141" "0000182265" "0000406142" "0000182266" "0000406143" "0000182267" "0000406144" "0000182268" "0000406145" "0000182269" "0000406146" "0000182270" "0000406147" "0000182271" "0000406148" "0000182272" "0000406149" "0000182273" "0000406150" "0000182274" "0000406151" "0000182275" "0000406152" "0000182276" "0000406153" "0000182277" "0000406154" "0000182278" "0000406155" "0000182279" "0000406156" "0000182280" "0000406157" "0000182281" "0000406158" "0000182282" "0000406159" "0000182283" "0000406160" "0000182284" "0000406161" "0000182285" "0000406162" "0000182286" "0000406163" "0000182287" "0000406164" "0000182288" "0000406165" "0000182289" "0000406166" "0000182290" "0000406167" "0000182291" "0000406168" "0000182292" "0000406169" "0000182293" "0000406170" "0000182294" "0000406171" "0000182295" "0000406172" "0000182296" "0000406173" "0000182297" "0000406174" "0000182298" "0000406175" "0000182299" "0000406176" "0000182300" "0000406177" "0000182301" "0000406178" "0000182302" "0000406179" "0000182303" "0000406180" "0000182304" "0000406181" "0000182305" "0000406182" "0000182306" "0000406183" "0000182307" "0000406184" "0000182308" "0000406185" "0000182309" "0000406186" "0000182310" "0000406187" "0000182311" "0000406188" "0000182312" "0000406189" "0000182313" "0000406190" "0000182314" "0000406191" "0000182315" "0000406192" "0000182316" "0000406193" "0000182317" "0000406194" "0000182318" "0000406195" "0000182319" "0000406196" "0000182320" "0000406197" "0000182321" "0000406198" "0000182322" "0000406199" "0000182323" "0000406200" "0000182324" "0000406201" "0000182325" "0000406202" "0000182326" "0000406203" "0000182327" "0000406204" "0000182328" "0000406205" "0000182329" "0000406206" "0000182330" "0000406207" "0000182331" "0000406208" "0000182332" "0000406209" "0000182333" "0000406210" "0000182334" "0000406211" "0000182335" "0000406212" "0000182336" "0000406213" "0000182337" "0000406214" "0000182338" "0000406215" "0000182339" "0000406216" "0000182340" "0000406217" "0000182341" "0000406218" "0000182342" "0000406219" "0000182343" "0000406220" "0000182354" "0000406231" "0000182355" "0000406232" "0000182356" "0000406233" "0000182357" "0000406234" "0000184006" "0000407944" "0000291897" "0000648586" "0000304173" "0000667571" "0000308959" "0000683393" "0000313053" "0000694783" "0000313056" "0000694785" "0000313065" "0000694796" "0000375319" "0000786660" "0000376838" "0000788893" "0000383065" "0000797056" "0000391319" "0000821067" "0000393285" "0000824016" "0000396240" "0000827809" "0000407200" "0000843721" "0000429415" "0000908888" "0000434815" "0000920692" "0000449961" "0000971567" "0000452077" "0000986029" "0000462527" "0001022054" "0000463927" "0001027547"