### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF11) # 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}}" "KIF11" "kinesin family member 11" "10" "q24.1" "unknown" "NG_032580.1" "UD_132084798588" "" "https://www.LOVD.nl/KIF11" "" "1" "6388" "3832" "148760" "1" "1" "1" "1" "Aliases include EG5, HKSP, KNSL1, MCLMR, TRIP5.\r\n This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIF11_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00006" "2012-06-29 00:00:00" "00006" "2018-05-11 17:48:39" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001806" "KIF11" "kinesin family member 11" "001" "NM_004523.3" "" "NP_004514.2" "" "" "" "-308" "4770" "3171" "94352825" "94415152" "00008" "2013-04-24 16:43:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00010" "MCLMR" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "AD" "152950" "" "" "" "00006" "2012-06-29 16:51:23" "00006" "2020-02-10 09:10:25" "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" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KIF11" "00010" "KIF11" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 168 "{{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}}" "00001198" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "F" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001199" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "F" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001200" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "F" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001201" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001202" "" "" "" "1" "" "00034" "{PMID:Vasudevan 2005:15930898}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00001203" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001204" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00001205" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001207" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001208" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001209" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "F" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001211" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "M" "no" "(United Kingdom (Great Britain))" "" "" "" "" "" "" "00001212" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00001213" "" "" "" "1" "" "00034" "{PMID:Hazan 2012:22653704}" "" "M" "yes" "Turkey" "" "" "" "" "" "" "00002593" "" "" "" "1" "" "00034" "Family II in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002594" "" "" "" "1" "" "00034" "Family III in {PMID:Jones et al 2014:24281367}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002595" "" "" "" "1" "" "00034" "Family IV in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002596" "" "" "" "1" "" "00034" "Family IX in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002597" "" "" "" "1" "" "00034" "Family X in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002598" "" "" "" "1" "" "00034" "Family XII in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002599" "" "" "" "1" "" "00034" "Family XV in {PMID:Jones et al 2014:24281367}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002600" "" "" "" "1" "" "00034" "Family XVIII in {PMID:Jones et al 2014:24281367}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00002601" "" "" "" "1" "" "00034" "Family XX in {PMID:Jones et al 2014:24281367}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00019597" "" "" "" "1" "" "00034" "" "" "?" "no" "Spain" "" "0" "" "" "" "" "00019598" "" "" "" "1" "" "00034" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00019599" "" "" "" "1" "" "00034" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00019600" "" "" "" "1" "" "00034" "" "" "F" "?" "Turkey" "" "0" "" "" "" "" "00019601" "" "" "" "1" "" "00034" "" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00045114" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045115" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "Chinese" "" "00045116" "" "" "" "1" "" "00034" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045117" "" "" "" "1" "" "00034" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045118" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045119" "" "" "" "1" "" "00034" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045120" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045121" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045122" "" "" "" "1" "" "00034" "" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045123" "" "" "" "1" "" "00034" "" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045124" "" "" "" "1" "" "00034" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045125" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045126" "" "" "" "1" "" "00034" "" "" "?" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045127" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045128" "" "" "" "1" "" "00034" "" "" "M" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045129" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045130" "" "" "" "1" "" "00034" "{PMID:Gunes 2018:30733662}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00045131" "" "" "" "1" "" "00034" "" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00045132" "" "" "" "1" "" "00034" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00046922" "" "" "" "1" "" "00034" "{PMID:Robitaille et al 2014:25124931}" "Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950)" "" "" "" "" "0" "" "" "" "" "00046923" "" "" "" "1" "" "00034" "{PMID:Robitaille et al 2014:25124931}" "Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950)" "M" "no" "" "" "0" "" "" "" "" "00046924" "" "" "" "1" "" "00034" "{PMID:Robitaille et al 2014:25124931}" "Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950)" "M" "?" "" "" "0" "" "" "" "" "00046925" "" "" "" "1" "" "00034" "{PMID:Robitaille et al 2014:25124931}" "Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950)" "M" "?" "" "" "0" "" "" "" "" "00046926" "" "" "" "1" "" "00034" "{PMID:Robitaille et al 2014:25124931}" "Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950)" "F" "?" "" "" "0" "" "" "" "" "00047821" "" "" "" "1" "" "00034" "{PMID:Mirzaa et al 2014:25115524}" "" "F" "no" "(United States)" "" "0" "" "" "mixed European" "" "00047847" "" "" "" "1" "" "00034" "{PMID:Mirzaa et al 2014:25115524}" "" "M" "no" "(United States)" "" "0" "" "" "white" "" "00047849" "" "" "" "1" "" "00034" "{PMID:Mirzaa et al 2014:25115524}" "" "M" "no" "(United States)" "" "0" "" "" "white" "" "00047850" "" "" "" "1" "" "00034" "{PMID:Mirzaa et al 2014:25115524}" "" "F" "no" "(United States)" "" "0" "" "" "white" "" "00047851" "" "" "" "1" "" "00034" "{PMID:Mirzaa et al 2014:25115524}" "" "M" "no" "(United States)" "" "0" "" "" "white" "" "00057249" "" "" "" "1" "" "01494" "{PMID:Rump 2016:26846091}" "" "M" "-" "" "" "0" "" "" "" "" "00154935" "" "" "" "1" "" "02399" "" "" "F" "-" "Netherlands" "28y" "0" "" "" "Dutch" "" "00154936" "" "" "" "1" "" "02399" "" "" "F" "?" "Netherlands" "57y" "0" "" "" "Dutch" "" "00163779" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00164217" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatI10" "00164218" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatII1" "00164219" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatIII10" "00164220" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatIV10" "00164221" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatVII10" "00164222" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatVIII10" "00164223" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatIX10" "00164225" "" "" "" "1" "" "00034" "{PMID:Ostergaard 2012:22284827}" "" "" "" "" "" "0" "" "" "" "22284827-?" "00164226" "" "" "" "1" "" "01829" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Belgium" "" "0" "" "" "" "22284827-?" "00164227" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatXII10" "00164228" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatXIII10" "00164229" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatXIV10" "00164230" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatIV1" "00164231" "" "" "" "1" "" "01829" "{PMID:Schlogel 2015:25934493}" "" "" "" "Belgium" "" "0" "" "" "" "25934493-PatV1" "00274284" "" "" "" "1" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21489 Pt3" "00274285" "" "" "" "1" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC20377 Pt 4" "00274286" "" "" "" "1" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC18797 Pt5" "00274287" "" "" "" "2" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 2 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC19303 Pt6" "00274288" "" "" "" "2" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 2 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21023 Pt7" "00275482" "" "" "" "2" "" "03383" "{PMID:Hu 2015:26472404}" "2 generation, 2 affected" "F" "no" "China" "" "0" "" "" "" "QT1314 II:1" "00275703" "" "" "" "2" "" "03383" "{PMID: Hu 2015: 26472404}" "2 generation, 2 affected" "F" "no" "China" "" "0" "" "" "" "QT964 II:3" "00275829" "" "" "" "1" "" "03383" "{PMID: Hu 2015: 26472404}" "2 generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "QT937 II:1" "00275830" "" "" "" "1" "" "03383" "{PMID: Hu 2015: 26472404}" "isolated" "M" "no" "China" "" "0" "" "" "" "QT761 II:2" "00275832" "" "" "" "2" "" "03383" "{PMID: Birtel 2017: 28785766}" "2 generation, 2 affected" "F" "no" "Germany" "" "0" "" "" "" "Patient 1" "00275834" "" "" "00275832" "1" "" "03383" "{PMID: Birtel 2017: 28785766}" "2 generation family 2 affected" "M" "no" "Germany" "" "0" "" "" "" "Patient 2" "00275838" "" "" "" "1" "" "03383" "{PMID: Birtel 2017: 28785766}" "isolated" "M" "no" "Germany" "" "0" "" "" "" "Patient 3" "00286159" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "isolated" "M" "?" "China" "" "0" "" "" "" "Patient 1" "00286164" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "isolated" "F" "no" "China" "" "0" "" "" "" "Patient 2" "00286165" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "isolated" "F" "no" "China" "" "0" "" "" "" "Patient 3" "00286167" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "isolated" "F" "no" "China" "" "0" "" "" "" "Patient 4" "00286169" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "isolated, de novo" "M" "no" "China" "" "0" "" "" "" "Patient 5" "00286171" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "2 generation family, 1 affected, (father carrier)" "M" "no" "China" "" "0" "" "" "" "Patient 6" "00286172" "" "" "" "1" "" "03383" "{PMID: Li 2016: 27212378}" "2 generation family, 2 affected (father, son)" "M" "no" "China" "" "0" "" "" "" "Patient 7" "00305891" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "5" "00309211" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00320139" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00328491" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16007751" "00328512" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15023722" "00332041" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat179" "00332042" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat180" "00333654" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "636" "00333655" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "638" "00334101" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "635" "00334102" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "637" "00383579" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383580" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383581" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383582" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383583" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383584" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383734" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC21489" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 3" "00383735" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC20377" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 4" "00383736" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC18797" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 5" "00383737" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC19303" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 6" "00383738" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC19303" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Mother of Pt 6" "00384290" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13487" "00384321" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13672" "00384352" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13863" "00384394" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14175" "00384439" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14538" "00384965" "" "" "" "1" "" "03974" "" "" "" "" "" "" "" "" "" "" "" "00385164" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "57" "00385820" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31987760}" "" "?" "" "China" "" "0" "" "" "" "463" "00386711" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2842_004427" "00388063" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "M" "" "China" "" "0" "" "" "" "F28" "00388474" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15012122" "00388571" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.060" "00407969" "" "" "" "1" "" "01164" "" "" "F" "?" "Kazakhstan" "" "0" "" "" "" "194408" "00416624" "" "" "" "1" "" "00000" "{PMID:Mears 2015:25764055}" "" "M" "" "" "" "0" "" "" "" "?" "00416626" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "F" "" "" "" "0" "" "" "" "P1" "00416627" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "F" "" "" "" "0" "" "" "" "P2" "00416628" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "M" "" "" "" "0" "" "" "" "P3" "00416629" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "M" "" "" "" "0" "" "" "" "P4" "00416630" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "M" "" "" "" "0" "" "" "" "P5" "00416631" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "F" "" "" "" "0" "" "" "" "P6" "00416632" "" "" "" "1" "" "00000" "{PMID:Balikova 2016:25996076}" "" "M" "" "" "" "0" "" "" "" "P7" "00416845" "" "" "" "1" "" "00000" "{PMID:Rump 2016:26846091}" "" "M" "" "" "" "0" "" "" "" "4" "00416855" "" "" "" "1" "" "00000" "{PMID:Riedl 2017:28574136}" "" "F" "" "" "" "0" "" "" "" "?" "00416858" "" "" "" "1" "" "00000" "{PMID:Karjosukarso 2018:30181612}" "" "F" "" "" "28y" "0" "" "" "" "?" "00422285" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 24, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "24_II:1" "00422286" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 171, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "171_II:1" "00422287" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 213, individual II:2" "F" "" "China" "" "0" "" "" "Chinese" "213_II:2" "00422288" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "father, family 213, individual I:1" "M" "" "China" "" "0" "" "" "Chinese" "213_I:1" "00422289" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 227, individual II:1" "F" "" "China" "" "0" "" "" "Chinese" "227_II:1" "00422290" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 242, individual III:1" "F" "" "China" "" "0" "" "" "Chinese" "242_III:1" "00422291" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "father, family 242, individual II:1" "F" "" "China" "" "0" "" "" "Chinese" "242_II:1" "00422292" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "sister, family 242, individual III:2" "F" "" "China" "" "0" "" "" "Chinese" "242_III:2" "00422293" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 298, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "298_II:1" "00422294" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "mother, family 298, individual I:2" "F" "" "China" "" "0" "" "" "Chinese" "298_I:2" "00422295" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 301, individual II:2" "M" "" "China" "" "0" "" "" "Chinese" "301_II:2" "00422296" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 336, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "336_II:1" "00422297" "" "" "" "1" "" "00000" "{PMID:Chen 2020:32730767}" "proband, family 417, individual II:1" "M" "" "China" "" "0" "" "" "Chinese" "417_II:1" "00422349" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P1" "00422350" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P2" "00422351" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P3" "00422352" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "F" "" "" "" "0" "" "" "" "P4" "00422353" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "F" "" "" "" "0" "" "" "" "P5" "00422354" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "F" "" "" "" "0" "" "" "" "P6" "00422355" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P7" "00422356" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P8" "00422357" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P9" "00422358" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P10" "00422359" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "F" "" "" "" "0" "" "" "" "P11" "00422360" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P12" "00453421" "" "" "" "1" "" "03544" "" "fetus" "?" "-" "- (not applicable)" "" "0" "" "" "white" "" "00464615" "" "" "" "1" "" "04333" "" "" "M" "no" "Israel" "" "" "" "" "North African Jewish" "" "00469032" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 173 "{{individualid}}" "{{diseaseid}}" "00001198" "00010" "00001199" "00010" "00001200" "00010" "00001201" "00010" "00001202" "00010" "00001203" "00010" "00001204" "00010" "00001205" "00010" "00001207" "00010" "00001208" "00010" "00001209" "00010" "00001211" "00010" "00001212" "00010" "00001213" "00010" "00002593" "00010" "00002594" "00010" "00002595" "00010" "00002596" "00010" "00002597" "00010" "00002598" "00010" "00002599" "00010" "00002600" "00010" "00002601" "00010" "00019597" "00010" "00019598" "00010" "00019599" "00010" "00019600" "00010" "00019601" "00010" "00045114" "00010" "00045115" "00010" "00045116" "00010" "00045117" "00010" "00045118" "00010" "00045119" "00010" "00045120" "00010" "00045121" "00010" "00045122" "00010" "00045123" "00010" "00045124" "00010" "00045125" "00010" "00045126" "00010" "00045127" "00010" "00045128" "00010" "00045129" "00010" "00045130" "00010" "00045131" "00010" "00045132" "00010" "00046922" "00198" "00046923" "00198" "00046924" "00198" "00046925" "00198" "00046926" "00198" "00047821" "00010" "00047847" "00010" "00047849" "00010" "00047850" "00010" "00047851" "00010" "00057249" "00010" "00154935" "04240" "00154936" "00000" "00163779" "05421" "00164217" "00010" "00164218" "00010" "00164219" "00010" "00164220" "00010" "00164221" "00010" "00164222" "00010" "00164223" "00010" "00164225" "00010" "00164226" "00010" "00164227" "00010" "00164228" "00010" "00164229" "00010" "00164230" "00010" "00164231" "00010" "00274284" "04240" "00274285" "00139" "00274285" "04240" "00274286" "04240" "00274287" "04240" "00274288" "00139" "00274288" "04240" "00275482" "04240" "00275703" "04240" "00275829" "04240" "00275830" "04240" "00275832" "00291" "00275832" "04240" "00275834" "04240" "00275838" "04240" "00286159" "00010" "00286159" "04240" "00286164" "04240" "00286165" "04240" "00286167" "00139" "00286167" "04240" "00286169" "04240" "00286171" "04240" "00286172" "04240" "00305891" "00010" "00309211" "04214" "00320139" "00198" "00328491" "04214" "00328512" "04214" "00332041" "04214" "00332042" "04214" "00333654" "04214" "00333655" "04214" "00334101" "04214" "00334102" "04214" "00383579" "04214" "00383580" "04214" "00383581" "04214" "00383582" "04214" "00383583" "04214" "00383584" "04214" "00383734" "04214" "00383735" "04214" "00383736" "04214" "00383737" "04214" "00383738" "04214" "00384290" "04214" "00384321" "04214" "00384352" "04214" "00384394" "04214" "00384439" "04214" "00384965" "05458" "00385164" "04214" "00385820" "04214" "00386711" "04214" "00388063" "04214" "00388474" "04214" "00388571" "04214" "00407969" "00010" "00416624" "00010" "00416626" "00010" "00416627" "00010" "00416628" "00010" "00416629" "00010" "00416630" "00010" "00416631" "00010" "00416632" "00010" "00416845" "00010" "00416855" "00010" "00416858" "00010" "00422285" "04214" "00422286" "04214" "00422287" "04214" "00422288" "04214" "00422289" "04214" "00422290" "04214" "00422291" "04214" "00422292" "04214" "00422293" "04214" "00422294" "04214" "00422295" "04214" "00422296" "04214" "00422297" "04214" "00422349" "04214" "00422350" "04214" "00422351" "04214" "00422352" "04214" "00422353" "04214" "00422354" "04214" "00422355" "04214" "00422356" "04214" "00422357" "04214" "00422358" "04214" "00422359" "04214" "00422360" "04214" "00453421" "00198" "00464615" "00010" "00469032" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00010, 00139, 00198, 00291, 04214, 04240, 05421, 05458 ## Count = 136 "{{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}}" "0000000630" "00010" "00001198" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000632" "00010" "00001199" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000633" "00010" "00001200" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000634" "00010" "00001201" "00034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000635" "00010" "00001202" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000636" "00010" "00001203" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000637" "00010" "00001204" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000638" "00010" "00001205" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000640" "00010" "00001207" "00034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000641" "00010" "00001208" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000642" "00010" "00001209" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000644" "00010" "00001211" "00034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000645" "00010" "00001212" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000646" "00010" "00001213" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001554" "00010" "00002593" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001555" "00010" "00002594" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001556" "00010" "00002595" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001559" "00010" "00002597" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001562" "00010" "00002599" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001563" "00010" "00002600" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000001564" "00010" "00002601" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017387" "00010" "00019597" "00034" "Isolated (sporadic)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000017388" "00010" "00019598" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017389" "00010" "00019599" "00034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017390" "00010" "00019600" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017391" "00010" "00019601" "00034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000034209" "01113" "00045114" "00034" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044545" "00010" "00057249" "01494" "Familial, autosomal dominant" "" "Microcephaly HP:0000252" "" "" "" "" "" "" "" "" "" "" "" "0000127669" "04240" "00154935" "02399" "Familial, autosomal dominant" "07y" "EVR + microcephaly" "<07y" "07y" "slight psychomotor retardation" "" "" "" "" "" "EVR + microcephaly" "slight psychomotor retardation" "" "0000129327" "00010" "00164217" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129328" "00010" "00164218" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129329" "00010" "00164219" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129330" "00010" "00164220" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129331" "00010" "00164221" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129332" "00010" "00164222" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129333" "00010" "00164223" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129335" "00010" "00164225" "00034" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129336" "00010" "00164226" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129337" "00010" "00164227" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129338" "00010" "00164228" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLMR" "MCLMR" "" "0000129339" "00010" "00164229" "01829" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "MCLM" "MCLM" "" "0000129340" "00010" "00164230" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLM" "MCLM" "" "0000129341" "00010" "00164231" "01829" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MCLM" "MCLM" "" "0000209226" "04240" "00274284" "03383" "Isolated (sporadic)" "" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252) bilateral retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000209227" "04240" "00274285" "03383" "Unknown" "" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000209228" "04240" "00274286" "03383" "Isolated (sporadic)" "" "exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 4 (EVR-4; familial)" "familial exudative vitreoretinopathy" "" "0000209229" "04240" "00274287" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490), retinal fold (HP:0008052)" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000209230" "04240" "00274288" "03383" "Familial" "17y" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000210103" "04240" "00275482" "03383" "Familial, autosomal dominant" "00y06m" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:00000252)" "00y04m" "" "nystagmus (HP:0000639)" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000210301" "04240" "00275703" "03383" "Familial, autosomal dominant" "00y05m" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252)" "00y02m" "" "corneal opacity (HP:0007957)" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000210427" "04240" "00275829" "03383" "Familial, autosomal dominant" "00y06m" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252)" "00y03m" "" "nystagmus (HP:0000639)" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000210428" "04240" "00275830" "03383" "Familial, autosomal dominant" "00y06m" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), mental retardation (HP:0001249)" "00y06m" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000210430" "04240" "00275832" "03383" "Familial, autosomal dominant" "" "exudative vitreoretinopathy (HP:0030490)" "" "05y" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000210435" "04240" "00275834" "03383" "Familial, autosomal dominant" "38y" "retinal dystrophy (HP:0000556), seizures (HP:0001250), intracranial cystic lesion (HP:10576)" "01y" "36y" "retinal fold (HP:0008052)" "" "" "" "" "" "" "" "" "0000210436" "04240" "00275838" "03383" "Isolated (sporadic)" "38y" "retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "" "" "0000220024" "04240" "00286159" "03383" "Isolated (sporadic)" "" "Stage 4 FEVR (HP: 0030490), chorioretinopathy (HP:0000532), microcephaly (HP:0000252)" "00y04m" "00y04m" "" "" "" "" "" "" "exudative vitreoretinopathy" "exudative vitreoretinopathy" "" "0000220028" "04240" "00286164" "03383" "Isolated (sporadic)" "" "stage 4 FEVR (HP:0030490), microcephaly (HP:000252)" "01y00m" "01y00m" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000220029" "04240" "00286165" "03383" "Isolated (sporadic)" "" "stage 5 FEVR (HP:0030490), microphthalmia left eye (HP:0000568)" "" "07y" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000220030" "04240" "00286167" "03383" "Isolated (sporadic)" "" "stage 5 FEVR (HP:0030490), microcephaly (HP:0000252), right eye microphthalmia (HP:0000568), mild intellectual disability (HP:0001249)" "" "00y10m" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000220031" "04240" "00286169" "03383" "Isolated (sporadic)" "" "stage 5 FEVR(HP:0030490), microphthalmia left eye (HP:0000568)" "" "01y00m" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000220032" "04240" "00286171" "03383" "Familial, autosomal dominant" "" "bilateral stage 5 FEVR (HP:0030490)" "" "02y" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000220033" "04240" "00286172" "03383" "Familial, autosomal dominant" "" "stage 5 FEVR (HP:0030490)" "" "01y00m" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000231738" "00010" "00305891" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000234531" "04214" "00309211" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa- syndromic" "" "0000242185" "00198" "00320139" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Intestinal pseudo-obstruction (HP:0004389)" "" "" "" "" "" "" "" "" "" "" "" "0000246717" "04214" "00328491" "00000" "Unknown" "6y" "retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246738" "04214" "00328512" "00000" "Unknown" "1y" "chorioretinal dysplasia (HP:0007731), microcephaly global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "chorioretinal dysplasia" "" "0000250232" "04214" "00332041" "00000" "Familial, autosomal dominant" "11y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "5y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250233" "04214" "00332042" "00000" "Familial, autosomal dominant" "38y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000251838" "04214" "00333654" "00000" "Familial, autosomal dominant" "63y" "clinical category IB6" "" "" "" "" "" "" "" "" "" "microcephaly chorioretinopathy lymphedema and mental retardation" "" "0000251839" "04214" "00333655" "00000" "Familial, autosomal dominant" "14y" "clinical category IB6" "" "" "" "" "" "" "" "" "" "microcephaly chorioretinopathy lymphedema and mental retardation" "" "0000252286" "04214" "00334101" "00000" "Isolated (sporadic)" "6y" "clinical category IB6" "" "" "" "" "" "" "" "" "" "microcephaly chorioretinopathy lymphedema and mental retardation" "" "0000252287" "04214" "00334102" "00000" "Isolated (sporadic)" "49y" "clinical category IB6" "" "" "" "" "" "" "" "" "" "microcephaly chorioretinopathy lymphedema and mental retardation" "" "0000277364" "04214" "00383579" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277365" "04214" "00383580" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277366" "04214" "00383581" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277367" "04214" "00383582" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277368" "04214" "00383583" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277369" "04214" "00383584" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277519" "04214" "00383734" "00000" "Isolated (sporadic)" "4m" "BE retinal folds with partial retinal vascular preservation on FFA. Rod-cone dysfunction on ERG Normal MRI brain" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000277520" "04214" "00383735" "00000" "Isolated (sporadic)" "10y" "RE chorioretinopathy with focal atrophy LE retinal fold. Rod-cone dysfunction Developmental delay" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000277521" "04214" "00383736" "00000" "Isolated (sporadic)" "4y" "BE retinal folds. Reduced ERG responses R>L tested age 6 weeks Normal MRI brain" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000277522" "04214" "00383737" "00000" "Familial, autosomal dominant" "14y" "RE retinal fold with peripheral chorioretinal atrophy and pigment LE focal chorioretinopathy Normal MRI brain" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000277523" "04214" "00383738" "00000" "Familial, autosomal dominant" "14y" "RE retinal fold with peripheral chorioretinal atrophy and pigment LE focal chorioretinopathy Normal MRI brain" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000278075" "04214" "00384290" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinal vessel disease" "" "0000278106" "04214" "00384321" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000278137" "04214" "00384352" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment, family exudative vitreoretinopathy" "" "0000278179" "04214" "00384394" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "PHPV" "" "0000278224" "04214" "00384439" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinovitrous disease" "" "0000278746" "05458" "00384965" "03974" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000278960" "04214" "00385164" "00000" "Familial, autosomal dominant" "1y2m" "HP:0000252 Microcephaly; HP:0011968 Feeding difficulties; HP:0001263 Global developmental delay; HP:0007973 Retinal dysplasia; HP:0007773 Vitreoretinopathy" "" "" "" "" "" "" "" "" "" "Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (AD)" "" "0000279629" "04214" "00385820" "00000" "Familial, autosomal dominant" "" "normal vision, asymptomatic, fundus fluorescein angiography detected lesions which were confined to the peripheral retina" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000280511" "04214" "00386711" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281657" "04214" "00388063" "00000" "Isolated (sporadic)" "" "complete retinal detachment, falciform retinal detach ment." "3m" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000282026" "04214" "00388474" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000282111" "04214" "00388571" "00000" "Isolated (sporadic)" "" "Hidden syndrome" "" "0m" "" "" "" "" "" "" "MLCRD syndrome: Microcephaly with or without chorioretinopathy, lymphedema or mental retardation" "Nystagmus. Complete atrophy of the optic nerve. Retinitis pigmentosa. Macular atrophy. Mental retardation" "" "0000300099" "00010" "00407969" "01164" "Unknown" "01y" "Secondary microcephaly, Constipation, Respiratory tract infection, Intention tremor" "" "" "" "" "" "" "" "" "" "" "" "0000308344" "00010" "00416624" "00000" "Isolated (sporadic)" "<15y" "learning disability, first noted at age 3 years, and a family history of a learning disability in mother and maternal grandfather; medical records - 2d: head circumference in the fifth percentile and pedal edema; 9y: microcephaly, intellectual disability, and dysmorphic features; best-corrected visual acuity right, left eye: 20/80, 20/40; low hyperopia; extraocular motility, pupils, and anterior segments: normal; fundus: optic disc pallor and gliosis, atrophic chorioretinal lesions inferior to the optic discs and smaller scattered areas of chorioretinal atrophy temporally; retinal angiography and optical coherence tomography: loss of the photoreceptor layers temporally and inferiorly, corresponding to the areas of chorioretinal atrophy visible by ophthalmoscopy, pedal lymphedema" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308346" "00010" "00416626" "00000" "Isolated (sporadic)" "10y" "best corrected visual acuity right, left eye: 0.12,0.2; refraction right, left eye: +2/ -3 x 165 deg, +3.75/ -3.25 x 10 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigmentary changes; electrodiagnostic testing: generalized loss of rod function with evidence of inner retinal cone on-system involvement both eyes. pattern electroretinogram evidence of macular dysfunction, worse on the right" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308347" "00010" "00416627" "00000" "Isolated (sporadic)" "6y" "best corrected visual acuity right, left eye: 0.8,1.1; refraction right, left eye: +6.25/ -0.5 x 5 deg, +4.75/ -0.5 x 175 deg; ocular fundus: lacunae of chorioretinal atrophy; electrodiagnostic testing: generalized rod and cone system dysfunction. pattern electroretinogram excluded due to variable fixation generalized rod and cone system dysfunction both eyes pattern electroretinogram not perform" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308348" "00010" "00416628" "00000" "Isolated (sporadic)" "4y" "best corrected visual acuity right, left eye: 3,1.3; refraction right, left eye: +4.5/ -2.75 x 20 deg, +6.5/ -2 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, generalized retinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: generalized loss of rod function both eyes with asymmetrical cone on- pathway involvement, right > left eye" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308349" "00010" "00416629" "00000" "Isolated (sporadic)" "7y" "best corrected visual acuity right, left eye: 0.25,0.5; refraction right, left eye: +4/ -1 x 180 deg, +4.0/ -1.5 x 180 deg; ocular fundus: lacunae of chorioretinal atrophy, macular pigment mottling, attenuated vessels inferiorly; electrodiagnostic testing: pattern electroretinogram evidence of severe macular dysfunction both eyes" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308350" "00010" "00416630" "00000" "Isolated (sporadic)" "10y" "best corrected visual acuity right, left eye: 1.22,0.9; refraction right, left eye: +1.75/ -3.75 x 180 deg, +2.25/ -4 9 x 180 deg; ocular fundus: diffuse retinal atrophy, both eyes macular retinal pigment epithelium pigmentary changes, pale optic discs; electrodiagnostic testing: generalized rod and cone system dysfunction both eyes. pattern electroretinogram evidence of macular dysfunction both ey" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308351" "00010" "00416631" "00000" "Isolated (sporadic)" "5y" "best corrected visual acuity right, left eye: 0.4,0.5; refraction right, left eye: +3.5/ -1.5 x 10 deg, +4/ -4/2.0 x 160 deg; ocular fundus: lacunae of chorioretinal atrophy, pale discs, attenuated vessels; electrodiagnostic testing: mild generalized rod and cone system dysfunction both eyes pattern electroretinogram evidence of macular dysfunction both eyes" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308352" "00010" "00416632" "00000" "Isolated (sporadic)" "2y" "best corrected visual acuity right, left eye: 0.6,no perception of light; refraction right, left eye: myopic astigmatism; ocular fundus: myopic astigmatism, right eye: lacunae of chorioretinal atrophy with incomplete peripheral retinal vascularization, left eye: retinal detachment; electrodiagnostic testing: reported as abnormal (no detailed description is available)" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308355" "00010" "00416845" "00000" "Familial, autosomal dominant" "2y" "brain magnetic resonance imaging: normal; additional clinical featureschorioretinopathy, mild developmental delay, hip dysplasia (mother with microcephaly and learning problems)" "" "" "" "" "" "" "" "" "Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [MIM 152950]" "" "" "0000308365" "00010" "00416855" "00000" "Familial, autosomal dominant" "56d" "8w; cloudiness in both of the baby\'s eyes; did not seem to react to light stimuli; born after 39 weeks and 2 days of pregnancy with a birthweight of 3,010 g,no evidence of infection during pregnancy; edema of the forehead, neck, and feet were observed in the 16th week of gestation; birth: severe microcephaly (head circumference 30 cm [-3 SD]) as well as edema at the dorsa of the feet; during the neonatal period, Turner syndrome ruled out with genetic testing; echocardiography: inconspicuous, no abnormal abdominal or pelvic symptoms; both eyes: normal intraocular pressure; right eye: anterior chamber normal with perfused vessels visible through the clear lens; retrolental white mass with vessels, left eye: the anterior chamber almost completely dislodged, vessels drawn from the iris to the lens, the lens clear, but the ciliary body villi pulled backward, a retrolental white mass with vessels; chamber angle not visible by gonioscopy in the left eye; funduscopy was not possible in either eye due to the white retrolental masses; axial length right/left eye: 15.82 / 16.51 mm ; explorative vitrectomy performed on the right eye via pars plana after a potential persistent hyperplastic primary vitreous was detected in both ultrasound and magnetic resonance imaging: total retinal detachment found" "" "" "" "" "" "" "" "" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "" "" "0000308368" "00010" "00416858" "00000" "Familial, autosomal dominant" "28y" "normal gestation and delivery; nystagmus, convergent strabismus, mild microcephaly at an early age; 3y: low visual acuity and strabismus of the right; occlusion of the left eye was tried for a short period without success and strabismus was corrected by surgery; 7y: best corrected visual acuity right, left eye: finger counting, 20/50; neurological examination: slight psychomotor retardation; computer tomography: no structural abnormalities of the brain and ventricles, nor any cerebral calcifications; skull circumference: 48 cm (T" "" "{PMID:Ostergaard 2012:22284827}" "" "p.Arg387*" "" "Germline" "yes" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000017942" "21" "75" "10" "94410251" "94410251" "del" "0" "00034" "KIF11_000015" "g.94410251del" "" "{PMID:Ostergaard 2012:22284827}" "" "p.Ile1006Leufs*62" "" "Germline" "yes" "" "" "" "" "g.92650494del" "" "likely pathogenic" "" "0000017943" "11" "75" "10" "94376500" "94376501" "del" "0" "00034" "KIF11_000006" "g.94376500_94376501del" "" "{PMID:Ostergaard 2012:22284827}" "" "1039_1040delCT" "" "Germline" "yes" "" "0" "" "" "g.92616743_92616744del" "" "likely pathogenic" "" "0000017944" "0" "75" "10" "94368821" "94368821" "subst" "0" "00034" "KIF11_000003" "g.94368821T>G" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Unknown" "?" "" "0" "" "" "g.92609064T>G" "" "likely pathogenic" "" "0000017945" "0" "75" "10" "94409651" "94409651" "subst" "0" "00034" "KIF11_000014" "g.94409651C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "p.(Arg944Cys)" "" "De novo" "yes" "" "" "" "" "g.92649894C>T" "" "likely pathogenic" "" "0000017946" "11" "75" "10" "94390052" "94390053" "delins" "0" "00034" "KIF11_000009" "g.94390052_94390053delinsAAA" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92630295_92630296delinsAAA" "" "likely pathogenic" "" "0000017947" "21" "75" "10" "94392340" "94392340" "del" "0" "00034" "KIF11_000010" "g.94392340del" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92632583del" "" "likely pathogenic" "" "0000017948" "0" "75" "10" "94372795" "94372795" "subst" "0" "00034" "KIF11_000001" "g.94372795A>G" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "De novo" "yes" "" "0" "" "" "g.92613038A>G" "" "likely pathogenic" "" "0000017950" "0" "75" "10" "94397028" "94397029" "dup" "0" "00034" "KIF11_000012" "g.94397028_94397029dup" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Unknown" "?" "" "" "" "" "g.92637271_92637272dup" "" "likely pathogenic" "" "0000017951" "21" "75" "10" "94381172" "94381172" "subst" "0" "00034" "KIF11_000007" "g.94381172C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000017952" "21" "75" "10" "94372802" "94372802" "subst" "0" "00034" "KIF11_000005" "g.94372802C>G" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92613045C>G" "" "likely pathogenic" "" "0000017954" "0" "75" "10" "94372798" "94372798" "subst" "0" "00034" "KIF11_000004" "g.94372798C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "p.(Arg234Cys)" "" "Unknown" "?" "" "0" "" "" "g.92613041C>T" "" "likely pathogenic" "" "0000017955" "21" "75" "10" "94393481" "94393481" "subst" "0" "00034" "KIF11_000011" "g.94393481C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92633724C>T" "" "likely pathogenic" "" "0000017956" "0" "75" "10" "94366083" "94366083" "subst" "0" "00034" "KIF11_000008" "g.94366083C>T" "" "{PMID:Hazan 2012:22653704}" "" "" "" "De novo" "yes" "" "0" "" "" "g.92606326C>T" "" "likely pathogenic" "" "0000020748" "21" "75" "10" "94366148" "94366148" "dup" "0" "00034" "KIF11_000017" "g.94366148dup" "" "{PMID: Jones 2014:24281367}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92606391dup" "" "likely pathogenic" "" "0000020749" "0" "75" "10" "94366992" "94366992" "subst" "0" "00034" "KIF11_000016" "g.94366992G>T" "" "{PMID:Jones 2014:24281367}" "" "" "" "De novo" "yes" "" "0" "" "" "g.92607235G>T" "" "likely pathogenic" "" "0000020750" "21" "75" "10" "94366995" "94366995" "subst" "0" "00034" "KIF11_000018" "g.94366995G>A" "" "{PMID:Jones 2014:24281367}" "posterga" "" "" "Germline" "yes" "" "0" "" "" "g.92607238G>A" "" "likely pathogenic" "" "0000020751" "21" "75" "10" "94372873" "94372873" "subst" "0" "00034" "KIF11_000020" "g.94372873G>T" "" "{PMID: Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92613116G>T" "" "likely pathogenic" "" "0000020752" "11" "75" "10" "94372855" "94372856" "del" "0" "00034" "KIF11_000019" "g.94372855_94372856del" "" "{PMID: Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92613098_92613099del" "" "likely pathogenic" "" "0000020753" "21" "75" "10" "94381138" "94381146" "delins" "0" "00034" "KIF11_000021" "g.94381138_94381146delinsTC" "" "{PMID:Ostergaard 2012:22284827}" "posterga" "" "" "Germline" "yes" "" "0" "" "" "g.92621381_92621389delinsTC" "" "likely pathogenic" "" "0000020754" "21" "75" "10" "94381172" "94381172" "subst" "0" "00034" "KIF11_000007" "g.94381172C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000020755" "0" "75" "10" "94399658" "94399658" "subst" "0" "00034" "KIF11_000022" "g.94399658G>A" "" "{PMID:Jones 2014:24281367}" "posterga" "" "" "De novo" "yes" "" "0" "" "" "g.92639901G>A" "" "likely pathogenic" "" "0000020756" "0" "75" "10" "94409629" "94409634" "delins" "0" "00034" "KIF11_000023" "g.94409629_94409634delinsCA" "" "{PMID:Jones 2014:24281367}" "" "" "" "De novo" "yes" "" "0" "" "" "g.92649872_92649877delinsCA" "" "likely pathogenic" "" "0000039999" "0" "07" "10" "94372828" "94372828" "subst" "0" "00034" "KIF11_000024" "g.94372828C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92613071C>T" "" "likely pathogenic" "" "0000040000" "0" "00" "10" "94409651" "94409651" "subst" "0" "00034" "KIF11_000025" "g.94409651C>G" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92649894C>G" "" "" "" "0000040002" "0" "07" "10" "94388599" "94388599" "subst" "0" "00034" "KIF11_000026" "g.94388599C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92628842C>T" "" "" "" "0000040003" "0" "07" "10" "94409743" "94409743" "subst" "0" "00034" "KIF11_000027" "g.94409743G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.92649986G>A" "" "" "" "0000040004" "0" "07" "10" "94409743" "94409743" "subst" "0" "00034" "KIF11_000027" "g.94409743G>A" "" "" "" "" "PCR of cDNA gives two bands of different sizes indicating that splicing has been affected" "Unknown" "?" "" "0" "" "" "g.92649986G>A" "" "" "" "0000072878" "0" "77" "10" "94366101" "94366101" "subst" "0" "00034" "KIF11_000028" "g.94366101C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92606344C>T" "" "likely pathogenic" "" "0000072879" "0" "77" "10" "94373187" "94373188" "del" "0" "00034" "KIF11_000029" "g.94373187_94373188del" "" "" "" "843_844delAG" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92613430_92613431del" "" "likely pathogenic (dominant)" "" "0000072880" "0" "77" "10" "94381147" "94381148" "del" "0" "00034" "KIF11_000030" "g.94381147_94381148del" "" "" "" "1134_1135delTA" "" "De novo" "-" "" "0" "" "" "g.92621390_92621391del" "" "likely pathogenic" "" "0000072881" "0" "77" "10" "94381231" "94381231" "subst" "0" "00034" "KIF11_000031" "g.94381231G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92621474G>A" "" "likely pathogenic" "" "0000072882" "0" "77" "10" "94369268" "94369268" "subst" "0" "00034" "KIF11_000032" "g.94369268T>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92609511T>C" "" "likely pathogenic" "" "0000072883" "21" "77" "10" "94405364" "94405364" "subst" "0.00134126" "00034" "KIF11_000033" "g.94405364A>C" "" "" "" "" "" "Germline" "yes" "rs34647366" "0" "" "" "g.92645607A>C" "" "likely pathogenic" "" "0000072884" "0" "77" "10" "94399562" "94399566" "del" "0" "00034" "KIF11_000034" "g.94399562_94399566del" "" "" "" "2172_2176delGTTAA" "" "Unknown" "?" "" "0" "" "" "g.92639805_92639809del" "" "likely pathogenic" "" "0000072885" "0" "77" "10" "94405254" "94405255" "del" "0" "00034" "KIF11_000035" "g.94405254_94405255del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92645497_92645498del" "" "likely pathogenic" "" "0000072886" "0" "77" "10" "94381172" "94381172" "subst" "0" "00034" "KIF11_000007" "g.94381172C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Unknown" "?" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000072888" "0" "77" "10" "94405359" "94405362" "del" "0" "00034" "KIF11_000036" "g.94405359_94405362del" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92645602_92645605del" "" "likely pathogenic" "" "0000072889" "0" "77" "10" "94366474" "94366474" "subst" "0" "00034" "KIF11_000037" "g.94366474G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92606717G>A" "" "likely pathogenic" "" "0000072890" "0" "77" "10" "94376577" "94376578" "dup" "0" "00034" "KIF11_000038" "g.94376577_94376578dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92616820_92616821dup" "" "likely pathogenic" "" "0000072891" "0" "77" "10" "94381172" "94381172" "subst" "0" "00034" "KIF11_000007" "g.94381172C>T" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Unknown" "?" "rs387906641" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000072892" "0" "77" "10" "94405154" "94405154" "del" "0" "00034" "KIF11_000039" "g.94405154del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92645397del" "" "likely pathogenic" "" "0000072893" "0" "77" "10" "94409684" "94409684" "subst" "0" "00034" "KIF11_000040" "g.94409684C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.92649927C>T" "" "likely pathogenic" "" "0000072894" "0" "77" "10" "94405254" "94405255" "del" "0" "00034" "KIF11_000035" "g.94405254_94405255del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92645497_92645498del" "" "likely pathogenic" "" "0000072895" "0" "77" "10" "94390029" "94390029" "subst" "0" "00034" "KIF11_000041" "g.94390029T>G" "" "{PMID:Gunes 2018:30733662}" "" "" "" "De novo" "-" "" "0" "" "" "g.92630272T>G" "" "likely pathogenic" "" "0000072896" "0" "77" "10" "94408108" "94408108" "subst" "0" "00034" "KIF11_000042" "g.94408108T>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92648351T>C" "" "likely pathogenic" "" "0000072897" "0" "77" "10" "94397243" "94397243" "subst" "0" "00034" "KIF11_000043" "g.94397243C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.92637486C>T" "" "likely pathogenic" "" "0000075695" "0" "77" "10" "94390035" "94390035" "subst" "0" "00034" "KIF11_000044" "g.94390035G>T" "" "{PMID:Robitaille 2014:25124931}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92630278G>T" "" "likely pathogenic" "" "0000075696" "0" "00" "10" "94369220" "94369220" "dup" "0" "00034" "KIF11_000045" "g.94369220dup" "" "{PMID:Robitaille 2014:25124931}" "" "p.A218Gfs*15" "" "De novo" "" "" "0" "" "" "g.92609463dup" "" "likely pathogenic" "" "0000075697" "0" "77" "10" "94366083" "94366083" "subst" "0" "00034" "KIF11_000008" "g.94366083C>T" "" "{PMID:Robitaille 2014:25124931}" "" "" "" "Unknown" "" "" "0" "" "" "g.92606326C>T" "" "likely pathogenic" "" "0000075698" "0" "77" "10" "94373133" "94373133" "subst" "0" "00034" "KIF11_000046" "g.94373133G>T" "" "{PMID:Robitaille 2014:25124931}" "" "" "" "Unknown" "" "" "0" "" "" "g.92613376G>T" "" "likely pathogenic" "" "0000075699" "0" "77" "10" "94369229" "94369229" "subst" "0" "00034" "KIF11_000047" "g.94369229A>G" "" "{PMID:Robitaille 2014:25124931}" "" "" "" "Germline" "" "" "0" "" "" "g.92609472A>G" "" "likely pathogenic" "" "0000076688" "0" "77" "10" "94405152" "94405153" "del" "0" "00034" "KIF11_000059" "g.94405152_94405153del" "" "{PMID:Mirzaa 2014:25115524}" "" "c.2299_2301het_delTT" "" "De novo" "-" "" "0" "" "" "g.92645395_92645396del" "" "likely pathogenic" "" "0000076731" "0" "77" "10" "94353134" "94353134" "subst" "0" "00034" "KIF11_000060" "g.94353134T>C" "" "{PMID:Mirzaa 2014:25115524}" "" "c.1C>T" "" "De novo" "-" "" "0" "" "" "g.92593377T>C" "" "likely pathogenic" "" "0000076732" "0" "77" "10" "94373133" "94373133" "subst" "0" "00034" "KIF11_000061" "g.94373133G>A" "" "{PMID:Mirzaa 2014:25115524}" "" "" "" "De novo" "-" "" "0" "" "" "g.92613376G>A" "" "likely pathogenic" "" "0000076733" "0" "77" "10" "94372828" "94372828" "subst" "0" "00034" "KIF11_000024" "g.94372828C>T" "" "{PMID:Mirzaa 2014:25115524}" "" "c.729C>T" "" "De novo" "-" "" "0" "" "" "g.92613071C>T" "" "likely pathogenic" "" "0000076734" "0" "77" "10" "94373374" "94373374" "subst" "0" "00034" "KIF11_000062" "g.94373374G>A" "" "{PMID:Mirzaa 2014:25115524}" "" "c.1029G>A" "" "De novo" "-" "" "0" "" "" "g.92613617G>A" "" "likely pathogenic" "" "0000087502" "21" "70" "10" "94376501" "94376501" "dup" "0" "01494" "KIF11_000063" "g.94376501dup" "1/38 patients" "{PMID:Rump 2016:26846091}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92616744dup" "" "likely pathogenic" "" "0000246877" "0" "10" "10" "94397295" "94397295" "subst" "0.00238385" "02330" "KIF11_000088" "g.94397295A>T" "" "" "" "KIF11(NM_004523.3):c.2153A>T (p.H718L), KIF11(NM_004523.4):c.2153A>T (p.H718L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92637538A>T" "" "benign" "" "0000246940" "0" "10" "10" "94366898" "94366898" "subst" "0.0511193" "02330" "KIF11_000078" "g.94366898A>G" "" "" "" "KIF11(NM_004523.4):c.309-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92607141A>G" "" "benign" "" "0000246941" "0" "10" "10" "94392459" "94392459" "subst" "0.0799887" "02330" "KIF11_000082" "g.94392459A>T" "" "" "" "KIF11(NM_004523.4):c.1702+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92632702A>T" "" "benign" "" "0000246942" "0" "10" "10" "94408207" "94408207" "subst" "0.0582483" "02330" "KIF11_000073" "g.94408207A>G" "" "" "" "KIF11(NM_004523.4):c.2770+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92648450A>G" "" "benign" "" "0000246943" "0" "10" "10" "94413572" "94413572" "subst" "0.00288961" "02330" "KIF11_000097" "g.94413572A>G" "" "" "" "KIF11(NM_004523.4):c.*19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92653815A>G" "" "benign" "" "0000246949" "0" "30" "10" "94405364" "94405364" "subst" "0.00134126" "02330" "KIF11_000033" "g.94405364A>C" "" "" "" "KIF11(NM_004523.4):c.2512A>C (p.N838H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92645607A>C" "" "likely benign" "" "0000246950" "0" "30" "10" "94366137" "94366137" "subst" "0.000162453" "02330" "KIF11_000077" "g.94366137A>G" "" "" "" "KIF11(NM_004523.4):c.193A>G (p.T65A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92606380A>G" "" "likely benign" "" "0000253370" "0" "10" "10" "94397295" "94397295" "subst" "0.00238385" "01943" "KIF11_000088" "g.94397295A>T" "" "" "" "KIF11(NM_004523.3):c.2153A>T (p.H718L), KIF11(NM_004523.4):c.2153A>T (p.H718L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92637538A>T" "" "benign" "" "0000254297" "0" "30" "10" "94392314" "94392314" "subst" "4.06197E-6" "01943" "KIF11_000081" "g.94392314A>T" "" "" "" "KIF11(NM_004523.3):c.1566A>T (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92632557A>T" "" "likely benign" "" "0000254930" "0" "30" "10" "94405194" "94405194" "subst" "0" "01943" "KIF11_000090" "g.94405194A>G" "" "" "" "KIF11(NM_004523.3):c.2342A>G (p.Q781R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92645437A>G" "" "likely benign" "" "0000255146" "0" "30" "10" "94410169" "94410169" "subst" "1.62537E-5" "01943" "KIF11_000093" "g.94410169A>G" "" "" "" "KIF11(NM_004523.3):c.2934A>G (p.V978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92650412A>G" "" "likely benign" "" "0000278518" "0" "10" "10" "94413559" "94413559" "subst" "3.01145E-5" "02330" "KIF11_000096" "g.94413559T>C" "" "" "" "KIF11(NM_004523.4):c.*6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92653802T>C" "" "benign" "" "0000278519" "0" "10" "10" "94393367" "94393367" "subst" "0" "02330" "KIF11_000083" "g.94393367T>C" "" "" "" "KIF11(NM_004523.4):c.1703-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92633610T>C" "" "benign" "" "0000278520" "0" "10" "10" "94393483" "94393483" "subst" "0.00339834" "02330" "KIF11_000084" "g.94393483G>A" "" "" "" "KIF11(NM_004523.4):c.1806G>A (p.Q602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92633726G>A" "" "benign" "" "0000278521" "0" "10" "10" "94396944" "94396944" "subst" "0.0003441" "02330" "KIF11_000086" "g.94396944G>T" "" "" "" "KIF11(NM_004523.4):c.1879G>T (p.V627L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92637187G>T" "" "benign" "" "0000278522" "0" "30" "10" "94397049" "94397049" "subst" "0" "02330" "KIF11_000087" "g.94397049T>A" "" "" "" "KIF11(NM_004523.4):c.1984T>A (p.L662M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92637292T>A" "" "likely benign" "" "0000278523" "0" "30" "10" "94399598" "94399598" "subst" "4.07007E-6" "02330" "KIF11_000089" "g.94399598G>A" "" "" "" "KIF11(NM_004523.4):c.2208G>A (p.L736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92639841G>A" "" "likely benign" "" "0000278524" "0" "10" "10" "94409749" "94409749" "subst" "0.00882399" "02330" "KIF11_000092" "g.94409749T>C" "" "" "" "KIF11(NM_004523.4):c.2922+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92649992T>C" "" "benign" "" "0000278525" "0" "10" "10" "94413508" "94413508" "subst" "0.00341545" "02330" "KIF11_000094" "g.94413508G>C" "" "" "" "KIF11(NM_004523.3):c.3126G>C (p.(Leu1042Phe)), KIF11(NM_004523.4):c.3126G>C (p.L1042F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92653751G>C" "" "benign" "" "0000278526" "0" "30" "10" "94353214" "94353214" "subst" "0.000729363" "02330" "KIF11_000064" "g.94353214G>C" "" "" "" "KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92593457G>C" "" "likely benign" "" "0000290251" "0" "90" "10" "94381172" "94381172" "subst" "0" "01943" "KIF11_000007" "g.94381172C>T" "" "" "" "KIF11(NM_004523.3):c.1159C>T (p.R387*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92621415C>T" "" "pathogenic" "" "0000290252" "0" "30" "10" "94390010" "94390010" "subst" "0.000229332" "01943" "KIF11_000080" "g.94390010T>G" "" "" "" "KIF11(NM_004523.3):c.1383T>G (p.L461=), KIF11(NM_004523.4):c.1383T>G (p.L461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92630253T>G" "" "likely benign" "" "0000290253" "0" "50" "10" "94393527" "94393527" "subst" "0" "01943" "KIF11_000085" "g.94393527G>T" "" "" "" "KIF11(NM_004523.3):c.1850G>T (p.S617I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92633770G>T" "" "VUS" "" "0000290254" "0" "50" "10" "94409742" "94409742" "subst" "0.000246662" "01943" "KIF11_000091" "g.94409742C>T" "" "" "" "KIF11(NM_004523.3):c.2921C>T (p.P974L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92649985C>T" "" "VUS" "" "0000290255" "0" "30" "10" "94413532" "94413532" "subst" "2.03288E-5" "01943" "KIF11_000095" "g.94413532G>C" "" "" "" "KIF11(NM_004523.3):c.3150G>C (p.L1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92653775G>C" "" "likely benign" "" "0000290256" "0" "30" "10" "94368836" "94368836" "subst" "4.13541E-6" "01943" "KIF11_000079" "g.94368836T>C" "" "" "" "KIF11(NM_004523.3):c.447T>C (p.D149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92609079T>C" "" "likely benign" "" "0000290257" "0" "30" "10" "94353218" "94353220" "del" "0" "01943" "KIF11_000065" "g.94353218_94353220del" "" "" "" "KIF11(NM_004523.3):c.77+9_77+11delAGG, KIF11(NM_004523.4):c.77+9_77+11delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92593461_92593463del" "" "likely benign" "" "0000321678" "0" "50" "10" "94392336" "94392336" "subst" "3.25E-5" "01804" "KIF11_000113" "g.94392336G>A" "" "" "" "KIF11(NM_004523.3):c.1588G>A (p.(Ala530Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92632579G>A" "" "VUS" "" "0000321679" "0" "50" "10" "94407987" "94407987" "subst" "4.14065E-6" "01804" "KIF11_000120" "g.94407987G>A" "" "" "" "KIF11(NM_004523.3):c.2566G>A (p.(Glu856Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92648230G>A" "" "VUS" "" "0000321681" "0" "50" "10" "94410233" "94410233" "subst" "0" "01804" "KIF11_000124" "g.94410233G>A" "" "" "" "KIF11(NM_004523.3):c.2998G>A (p.(Gly1000Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92650476G>A" "" "VUS" "" "0000338913" "0" "10" "10" "94408207" "94408207" "subst" "0.0582483" "02327" "KIF11_000073" "g.94408207A>G" "" "" "" "KIF11(NM_004523.4):c.2770+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92648450A>G" "" "benign" "" "0000340570" "0" "30" "10" "94388631" "94388631" "subst" "0.00014841" "02327" "KIF11_000068" "g.94388631T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92628874T>A" "" "likely benign" "" "0000343064" "0" "90" "10" "94366101" "94366101" "subst" "0" "02327" "KIF11_000028" "g.94366101C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92606344C>T" "" "pathogenic" "" "0000344887" "0" "90" "10" "94392321" "94392321" "subst" "0" "02327" "KIF11_000071" "g.94392321C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92632564C>T" "" "pathogenic" "" "0000346493" "0" "90" "10" "94392288" "94392288" "del" "0" "02327" "KIF11_000070" "g.94392288del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92632531del" "" "pathogenic" "" "0000347918" "0" "90" "10" "94409699" "94409699" "dup" "0" "02327" "KIF11_000074" "g.94409699dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92649942dup" "" "pathogenic" "" "0000351447" "0" "90" "10" "94366474" "94366474" "subst" "0" "02327" "KIF11_000037" "g.94366474G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92606717G>A" "" "pathogenic" "" "0000351448" "0" "90" "10" "94366478" "94366478" "subst" "0" "02327" "KIF11_000067" "g.94366478G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92606721G>T" "" "pathogenic" "" "0000356873" "21" "70" "10" "94408138" "94408138" "del" "0" "02399" "KIF11_000075" "g.94408138del" "" "" "" "c.2717del" "" "Germline" "yes" "" "0" "" "" "g.92648381del" "" "likely pathogenic" "" "0000356874" "0" "30" "10" "94408138" "94408138" "del" "0" "02399" "KIF11_000075" "g.94408138del" "" "" "" "" "mosaicism observed in blood, saliva and skin biopsy-derived fibroblasts" "Somatic" "?" "" "0" "" "" "g.92648381del" "" "likely benign" "" "0000368215" "0" "90" "10" "94393404" "94393405" "del" "0" "01741" "KIF11_000076" "g.94393404_94393405del" "" "" "" "1727_1728delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92633647_92633648del" "" "pathogenic" "" "0000368700" "0" "99" "10" "94366410" "94366410" "subst" "0" "01829" "KIF11_000048" "g.94366410A>T" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92606653A>T" "" "pathogenic" "" "0000368701" "1" "99" "10" "94366474" "94366474" "subst" "0" "01829" "KIF11_000049" "g.94366474G>T" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92606717G>T" "" "pathogenic" "" "0000368702" "1" "99" "10" "94368825" "94368825" "subst" "0" "01829" "KIF11_000050" "g.94368825A>T" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92609068A>T" "" "pathogenic" "" "0000368703" "1" "99" "10" "94397050" "94397050" "subst" "0" "01829" "KIF11_000053" "g.94397050T>A" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92637293T>A" "" "pathogenic" "" "0000368704" "0" "99" "10" "94397147" "94397147" "del" "0" "01829" "KIF11_000054" "g.94397147del" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92637390del" "" "pathogenic" "" "0000368705" "0" "99" "10" "94397303" "94397303" "subst" "0" "01829" "KIF11_000055" "g.94397303G>A" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92637546G>A" "" "pathogenic" "" "0000368706" "0" "99" "10" "94399634" "94399637" "dup" "0" "01829" "KIF11_000056" "g.94399634_94399637dup" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92639877_92639880dup" "" "pathogenic" "" "0000368708" "0" "75" "10" "94405156" "94405157" "del" "0" "00034" "KIF11_000013" "g.94405156_94405157del" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "De novo" "" "" "0" "" "" "g.92645399_92645400del" "" "pathogenic" "" "0000368709" "21" "99" "10" "94405401" "94405401" "subst" "0" "01829" "KIF11_000002" "g.94405401T>C" "" "{PMID:Ostergaard 2012:22284827}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92645644T>C" "" "pathogenic" "" "0000368710" "0" "99" "10" "94408144" "94408144" "dup" "0" "01829" "KIF11_000057" "g.94408144dup" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92648387dup" "" "pathogenic" "" "0000368711" "0" "99" "10" "94409603" "94409604" "dup" "0" "01829" "KIF11_000058" "g.94409603_94409604dup" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92649846_92649847dup" "" "pathogenic" "" "0000368712" "0" "99" "10" "94409743" "94409743" "subst" "0" "01829" "KIF11_000027" "g.94409743G>A" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "De novo" "" "" "0" "" "" "g.92649986G>A" "" "pathogenic" "" "0000368713" "1" "99" "10" "94369198" "94369198" "del" "0" "01829" "KIF11_000051" "g.94369198del" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "Germline" "" "" "0" "" "" "g.92609441del" "" "pathogenic" "" "0000368714" "1" "99" "10" "94373131" "94373131" "subst" "0" "01829" "KIF11_000052" "g.94373131A>G" "" "{PMID:Schlogel 2015:25934493}" "" "" "" "Germline" "" "" "0" "" "" "g.92613374A>G" "" "pathogenic" "" "0000541618" "0" "50" "10" "94353212" "94353212" "subst" "0" "02327" "KIF11_000098" "g.94353212A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92593455A>G" "" "VUS" "" "0000541619" "0" "30" "10" "94353214" "94353214" "subst" "0.000729363" "01943" "KIF11_000064" "g.94353214G>C" "" "" "" "KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92593457G>C" "" "likely benign" "" "0000541620" "0" "10" "10" "94353218" "94353220" "del" "0" "02330" "KIF11_000065" "g.94353218_94353220del" "" "" "" "KIF11(NM_004523.3):c.77+9_77+11delAGG, KIF11(NM_004523.4):c.77+9_77+11delAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92593461_92593463del" "" "benign" "" "0000541621" "0" "30" "10" "94366362" "94366362" "dup" "0" "02330" "KIF11_000099" "g.94366362dup" "" "" "" "KIF11(NM_004523.4):c.211-14dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92606605dup" "" "likely benign" "" "0000541623" "0" "90" "10" "94366412" "94366412" "subst" "0" "02327" "KIF11_000102" "g.94366412C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92606655C>T" "" "pathogenic" "" "0000541624" "0" "70" "10" "94366464" "94366464" "subst" "0" "02329" "KIF11_000103" "g.94366464C>T" "" "" "" "KIF11(NM_004523.4):c.299C>T (p.T100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92606707C>T" "" "likely pathogenic" "" "0000541625" "0" "50" "10" "94366476" "94366476" "subst" "0" "02327" "KIF11_000104" "g.94366476A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92606719A>C" "" "VUS" "" "0000541626" "0" "30" "10" "94366486" "94366486" "subst" "0.00119004" "02330" "KIF11_000105" "g.94366486G>A" "" "" "" "KIF11(NM_004523.4):c.308+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92606729G>A" "" "likely benign" "" "0000541627" "0" "50" "10" "94368954" "94368954" "subst" "0" "02330" "KIF11_000106" "g.94368954C>T" "" "" "" "KIF11(NM_004523.3):c.565C>T (p.(Arg189Cys)), KIF11(NM_004523.4):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92609197C>T" "" "VUS" "" "0000541628" "0" "50" "10" "94369233" "94369233" "subst" "0" "02330" "KIF11_000107" "g.94369233C>T" "" "" "" "KIF11(NM_004523.4):c.665C>T (p.T222I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92609476C>T" "" "VUS" "" "0000541629" "0" "30" "10" "94369247" "94369247" "subst" "0.000342321" "01943" "KIF11_000108" "g.94369247C>T" "" "" "" "KIF11(NM_004523.3):c.679C>T (p.L227=), KIF11(NM_004523.4):c.679C>T (p.L227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92609490C>T" "" "likely benign" "" "0000541631" "0" "90" "10" "94376539" "94376546" "del" "0" "01943" "KIF11_000110" "g.94376539_94376546del" "" "" "" "KIF11(NM_004523.3):c.1078_1085delTTGAATAA (p.L360Afs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92616782_92616789del" "" "pathogenic" "" "0000541632" "0" "10" "10" "94381133" "94381133" "subst" "0.000829285" "02330" "KIF11_000111" "g.94381133C>T" "" "" "" "KIF11(NM_004523.4):c.1129-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92621376C>T" "" "benign" "" "0000541633" "0" "30" "10" "94389958" "94389958" "subst" "9.30726E-6" "01804" "KIF11_000112" "g.94389958A>T" "" "" "" "KIF11(NM_004523.3):c.1331A>T (p.(Lys444Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92630201A>T" "" "likely benign" "" "0000541634" "0" "90" "10" "94392427" "94392427" "dup" "0" "02325" "KIF11_000114" "g.94392427dup" "" "" "" "KIF11(NM_004523.4):c.1679dupT (p.E561Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92632670dup" "" "pathogenic" "" "0000541635" "0" "30" "10" "94393373" "94393373" "subst" "0" "01804" "KIF11_000115" "g.94393373G>C" "" "" "" "KIF11(NM_004523.3):c.1703-7G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92633616G>C" "" "likely benign" "" "0000541636" "0" "30" "10" "94393383" "94393383" "subst" "0.000860493" "02330" "KIF11_000116" "g.94393383A>G" "" "" "" "KIF11(NM_004523.3):c.1706A>G (p.N569S), KIF11(NM_004523.4):c.1706A>G (p.N569S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92633626A>G" "" "likely benign" "" "0000541637" "0" "30" "10" "94393383" "94393383" "subst" "0.000860493" "01943" "KIF11_000116" "g.94393383A>G" "" "" "" "KIF11(NM_004523.3):c.1706A>G (p.N569S), KIF11(NM_004523.4):c.1706A>G (p.N569S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92633626A>G" "" "likely benign" "" "0000541638" "0" "10" "10" "94397017" "94397017" "subst" "0.000501069" "02330" "KIF11_000117" "g.94397017A>G" "" "" "" "KIF11(NM_004523.4):c.1952A>G (p.N651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92637260A>G" "" "benign" "" "0000541639" "0" "90" "10" "94399549" "94399549" "subst" "0" "01943" "KIF11_000118" "g.94399549A>G" "" "" "" "KIF11(NM_004523.3):c.2161-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92639792A>G" "" "pathogenic" "" "0000541640" "0" "10" "10" "94399556" "94399556" "subst" "0.000467105" "02330" "KIF11_000119" "g.94399556T>G" "" "" "" "KIF11(NM_004523.3):c.2166T>G (p.L722=), KIF11(NM_004523.4):c.2166T>G (p.L722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92639799T>G" "" "benign" "" "0000541641" "0" "30" "10" "94409586" "94409586" "subst" "0.00488896" "02330" "KIF11_000122" "g.94409586T>A" "" "" "" "KIF11(NM_004523.3):c.2771-6T>A, KIF11(NM_004523.4):c.2771-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92649829T>A" "" "likely benign" "" "0000541642" "0" "30" "10" "94409586" "94409586" "subst" "0.00488896" "01943" "KIF11_000122" "g.94409586T>A" "" "" "" "KIF11(NM_004523.3):c.2771-6T>A, KIF11(NM_004523.4):c.2771-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92649829T>A" "" "likely benign" "" "0000541644" "0" "30" "10" "94409596" "94409596" "subst" "0.000501137" "01943" "KIF11_000123" "g.94409596G>A" "" "" "" "KIF11(NM_004523.3):c.2775G>A (p.T925=), KIF11(NM_004523.4):c.2775G>A (p.T925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92649839G>A" "" "likely benign" "" "0000541646" "0" "30" "10" "94413508" "94413508" "subst" "0.00341545" "01804" "KIF11_000094" "g.94413508G>C" "" "" "" "KIF11(NM_004523.3):c.3126G>C (p.(Leu1042Phe)), KIF11(NM_004523.4):c.3126G>C (p.L1042F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92653751G>C" "" "likely benign" "" "0000612813" "0" "70" "10" "94372892" "94372892" "subst" "0" "02327" "KIF11_000126" "g.94372892G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92613135G>A" "" "likely pathogenic" "" "0000612814" "0" "30" "10" "94381207" "94381207" "subst" "4.06825E-6" "02330" "KIF11_000127" "g.94381207G>A" "" "" "" "KIF11(NM_004523.4):c.1194G>A (p.V398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92621450G>A" "" "likely benign" "" "0000612815" "0" "30" "10" "94399556" "94399556" "subst" "0.000467105" "01943" "KIF11_000119" "g.94399556T>G" "" "" "" "KIF11(NM_004523.3):c.2166T>G (p.L722=), KIF11(NM_004523.4):c.2166T>G (p.L722=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92639799T>G" "" "likely benign" "" "0000612816" "0" "70" "10" "94405301" "94405302" "del" "0" "01804" "KIF11_000128" "g.94405301_94405302del" "" "" "" "KIF11(NM_004523.3):c.2448_2449del (p.(Gln817GlufsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92645544_92645545del" "" "likely pathogenic" "" "0000629447" "0" "90" "10" "94366412" "94366412" "subst" "0" "03383" "KIF11_000102" "g.94366412C>T" "" "{PMID:Hull 2019:31077665}" "" "" "" "De novo" "" "rs1064796738" "0" "" "" "g.92606655C>T" "" "pathogenic" "" "0000629448" "0" "70" "10" "94409731" "94409735" "del" "0" "03383" "KIF11_000129" "g.94409731_94409735del" "" "{PMID:Hull 2019:31077665}" "" "" "heterozygous, parent analysis unavailable" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92649974_92649978del" "" "likely pathogenic" "" "0000629449" "0" "90" "10" "94366561" "94367322" "del" "0" "03383" "KIF11_000131" "g.94366561_94367322del" "" "{PMID:Hull 2019:31077665}" "" "chr10:94366561_94367322del" "762bp deletion exon 4" "De novo" "" "" "0" "" "" "g.92606804_92607565del" "" "pathogenic (dominant)" "" "0000629450" "11" "90" "10" "94345323" "94359951" "del" "0" "03383" "KIF11_000132" "g.94345323_94359951del" "" "{PMID:Hull 2019:31077665}" "" "chr10:94345322_94359950del" "father also with microcephaly" "Germline" "yes" "" "0" "" "" "g.92585566_92600194del" "" "pathogenic (dominant)" "" "0000629452" "10" "90" "10" "94414846" "94414846" "subst" "0" "03383" "KIF11_000130" "g.94414846A>C" "" "" "" "" "alternative splice product\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000631006" "21" "90" "10" "94366075" "94366076" "dup" "0" "03383" "KIF11_000133" "g.94366075_94366076dup" "" "{PMID:Hu 2015:26472404}" "" "131_132dupAT" "" "Germline" "yes" "" "0" "" "" "g.92606318_92606319dup" "" "pathogenic (dominant)" "" "0000631251" "20" "90" "10" "94399620" "94399620" "subst" "0" "03383" "KIF11_000136" "g.94399620C>T" "1/31 probands" "{PMID: Hu 2015: 26472404}" "" "" "germline mocaicism in mother, 0/780 controls" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.92639863C>T" "" "pathogenic (dominant)" "" "0000631252" "11" "90" "10" "94409684" "94409684" "subst" "0" "03383" "KIF11_000040" "g.94409684C>T" "1/31 probands" "{PMID: Hu 2015: 26472404}" "" "" "0/780 controls" "Germline" "yes" "" "0" "" "" "g.92649927C>T" "" "pathogenic (dominant)" "" "0000631492" "0" "90" "10" "94410187" "94410190" "del" "0" "03383" "KIF11_000137" "g.94410187_94410190del" "1/31 probands" "{PMID: Hu 2015: 26472404}" "" "2952_2955delGCAG" "0/780 controls" "De novo" "" "" "0" "" "" "g.92650430_92650433del" "" "pathogenic (dominant)" "" "0000631733" "21" "90" "10" "94393521" "94393523" "del" "0" "03383" "KIF11_000135" "g.94393521_94393523del" "" "{PMID: Birtel 2017: 28785766}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92633764_92633766del" "" "likely pathogenic (dominant)" "" "0000631738" "0" "90" "10" "94393521" "94393523" "del" "0" "03383" "KIF11_000135" "g.94393521_94393523del" "" "{PMID: Birtel 2017: 28785766}" "" "1844_1846delCAG" "de novo in patient" "De novo" "yes" "" "0" "" "" "g.92633764_92633766del" "" "pathogenic (dominant)" "" "0000631739" "0" "90" "10" "94373152" "94373152" "subst" "0" "03383" "KIF11_000134" "g.94373152G>T" "" "{PMID: Birtel 2017: 28785766}" "" "" "de novo in patient" "De novo" "?" "" "0" "" "" "g.92613395G>T" "" "pathogenic" "" "0000643106" "0" "90" "10" "94368900" "94368900" "subst" "0" "03383" "KIF11_000138" "g.94368900C>G" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "de novo in patient" "De novo" "?" "" "0" "" "" "g.92609143C>G" "" "pathogenic" "" "0000643112" "0" "90" "10" "94373132" "94373132" "subst" "0" "03383" "KIF11_000139" "g.94373132A>C" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "heterozygous, de novo" "De novo" "?" "" "0" "" "" "g.92613375A>C" "" "likely pathogenic (dominant)" "" "0000643114" "0" "90" "10" "94392321" "94392321" "subst" "0" "03383" "KIF11_000071" "g.94392321C>T" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "heterozygous, de novo" "De novo" "?" "" "0" "" "" "g.92632564C>T" "" "VUS" "" "0000643115" "0" "90" "10" "94405376" "94405376" "subst" "0" "03383" "KIF11_000140" "g.94405376C>T" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "heterozygous, de novo" "De novo" "?" "" "0" "" "" "g.92645619C>T" "" "likely pathogenic" "" "0000643117" "0" "90" "10" "94409628" "94409628" "subst" "0" "03383" "KIF11_000141" "g.94409628C>G" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "de novo, heterozygous" "De novo" "?" "" "0" "" "" "g.92649871C>G" "" "likely pathogenic" "" "0000643119" "11" "90" "10" "94410187" "94410187" "del" "0" "03383" "KIF11_000142" "g.94410187del" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "2949delG" "father asymptomatic" "Germline" "yes" "" "0" "" "" "g.92650430del" "" "VUS" "" "0000643120" "11" "70" "10" "94413455" "94413455" "subst" "4.06722E-6" "03383" "KIF11_000143" "g.94413455A>G" "1/142 probands" "{PMID: Li 2016: 27212378}" "" "" "father asymptomatic but with avascular peripheral retina on FFA" "Germline" "yes" "" "0" "" "" "g.92653698A>G" "" "VUS" "" "0000673559" "0" "90" "10" "94353210" "94353210" "subst" "0" "03695" "KIF11_000144" "g.94353210G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000678959" "0" "30" "10" "94393456" "94393456" "subst" "0" "01943" "KIF11_000145" "g.94393456A>C" "" "" "" "KIF11(NM_004523.3):c.1779A>C (p.P593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678960" "0" "30" "10" "94408004" "94408004" "subst" "0" "01943" "KIF11_000146" "g.94408004C>T" "" "" "" "KIF11(NM_004523.3):c.2583C>T (p.D861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685267" "0" "90" "10" "94366988" "94366988" "subst" "0" "00004" "KIF11_000147" "g.94366988G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000690843" "0" "30" "10" "94409596" "94409596" "subst" "0.000501137" "02330" "KIF11_000123" "g.94409596G>A" "" "" "" "KIF11(NM_004523.3):c.2775G>A (p.T925=), KIF11(NM_004523.4):c.2775G>A (p.T925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704153" "0" "90" "10" "94388596" "94388596" "subst" "0" "01807" "KIF11_000148" "g.94388596G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000714063" "0" "70" "10" "94405214" "94405214" "subst" "0" "00000" "KIF11_000150" "g.94405214C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.92645457C>T" "" "likely pathogenic" "" "0000714084" "0" "70" "10" "94368867" "94368868" "del" "0" "00000" "KIF11_000149" "g.94368867_94368868del" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.92609110_92609111del" "" "likely pathogenic (recessive)" "" "0000723025" "0" "90" "10" "94376500" "94376501" "del" "0" "02329" "KIF11_000006" "g.94376500_94376501del" "" "" "" "KIF11(NM_004523.4):c.1039_1040delCT (p.L347Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723026" "0" "10" "10" "94392326" "94392326" "subst" "0.000702772" "02330" "KIF11_000151" "g.94392326C>A" "" "" "" "KIF11(NM_004523.4):c.1578C>A (p.H526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000730684" "1" "90" "10" "94393521" "94393523" "del" "0" "00000" "KIF11_000135" "g.94393521_94393523del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.92633764_92633766del" "" "pathogenic (dominant)" "" "0000730685" "1" "90" "10" "94373152" "94373152" "subst" "0" "00000" "KIF11_000134" "g.94373152G>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.92613395G>T" "" "pathogenic (dominant)" "" "0000732887" "0" "70" "10" "94381233" "94381233" "subst" "0" "00000" "KIF11_000153" "g.94381233A>C" "" "{PMID:Stone 2017:28559085}" "" "IVS10+3 A>C" "" "Germline" "" "" "0" "" "" "g.92621476A>C" "" "likely pathogenic" "" "0000732888" "0" "70" "10" "94366140" "94366141" "del" "0" "00000" "KIF11_000152" "g.94366140_94366141del" "" "{PMID:Stone 2017:28559085}" "" "195_196delAT" "" "Germline" "" "" "0" "" "" "g.92606383_92606384del" "" "likely pathogenic" "" "0000733336" "0" "70" "10" "94397145" "94397146" "del" "0" "00000" "KIF11_000154" "g.94397145_94397146del" "" "{PMID:Stone 2017:28559085}" "" "2002_2003delAT" "" "De novo" "" "" "0" "" "" "g.92637388_92637389del" "" "likely pathogenic" "" "0000733337" "0" "70" "10" "94397160" "94397161" "del" "0" "00000" "KIF11_000155" "g.94397160_94397161del" "" "{PMID:Stone 2017:28559085}" "" "2018_2019delAG" "" "De novo" "" "" "0" "" "" "g.92637403_92637404del" "" "likely pathogenic" "" "0000804636" "0" "50" "10" "94366137" "94366139" "del" "0" "01943" "KIF11_000156" "g.94366137_94366139del" "" "" "" "KIF11(NM_004523.3):c.193_195delACA (p.T65del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811596" "0" "70" "10" "94368883" "94368883" "subst" "0" "00000" "KIF11_000160" "g.94368883A>G" "" "{PMID:Wang 2019:31299183}" "" "KIF11 494A?>?G, Asn165Ser" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92609126A>G" "" "likely pathogenic" "" "0000811597" "0" "70" "10" "94376500" "94376501" "del" "0" "00000" "KIF11_000006" "g.94376500_94376501del" "" "{PMID:Wang 2019:31299183}" "" "KIF11 1039-1040delCT, Leu347fs" "" "Germline" "?" "" "0" "" "" "g.92616743_92616744del" "" "likely pathogenic" "" "0000811598" "0" "70" "10" "94366923" "94366923" "del" "0" "00000" "KIF11_000159" "g.94366923del" "" "{PMID:Wang 2019:31299183}" "" "KIF11 316del, Gln106Lysfs*30" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92607166del" "" "likely pathogenic" "" "0000811599" "0" "70" "10" "94368956" "94368956" "del" "0" "00000" "KIF11_000161" "g.94368956del" "" "{PMID:Wang 2019:31299183}" "" "KIF11 567delT, Asn190Thrfs*5" "" "Germline" "?" "" "0" "" "" "g.92609199del" "" "likely pathogenic" "" "0000811600" "0" "70" "10" "94388581" "94388582" "ins" "0" "00000" "KIF11_000163" "g.94388581_94388582insA" "" "{PMID:Wang 2019:31299183}" "" "KIF11 1234-1235insA, Leu412fs" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92628824_92628825insA" "" "likely pathogenic" "" "0000811601" "0" "70" "10" "94366411" "94366411" "subst" "0" "00000" "KIF11_000158" "g.94366411C>A" "" "{PMID:Wang 2019:31299183}" "" "KIF11 246C?>?A, Tyr82*" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92606654C>A" "" "likely pathogenic" "" "0000811798" "0" "70" "10" "94366412" "94366412" "subst" "0" "00000" "KIF11_000102" "g.94366412C>T" "" "{PMID:Hull 2019:31077665}" "" "c.247C>T, p.(Arg83*)" "heterozygous" "De novo" "?" "" "0" "" "" "g.92606655C>T" "" "likely pathogenic" "" "0000811799" "0" "70" "10" "94409731" "94409735" "del" "0" "00000" "KIF11_000129" "g.94409731_94409735del" "" "{PMID:Hull 2019:31077665}" "" "c.2910_2914del, p.(Glu970Aspfs*17)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92649974_92649978del" "" "likely pathogenic" "" "0000811800" "0" "70" "10" "94366561" "94367322" "del" "0" "00000" "KIF11_000131" "g.94366561_94367322del" "" "{PMID:Hull 2019:31077665}" "" "chr10:94366561_94367322del, p.(?)" "heterozygous" "De novo" "?" "" "0" "" "" "g.92606804_92607565del" "" "likely pathogenic" "" "0000811801" "21" "70" "10" "94345322" "94359501" "del" "0" "00000" "KIF11_000157" "g.94345322_94359501del" "" "{PMID:Hull 2019:31077665}" "" "chr10:94345322_94359501del, p.(?)" "heterozygous" "Germline" "?" "" "0" "" "" "g.92585565_92599744del" "" "likely pathogenic" "" "0000811802" "0" "70" "10" "94345322" "94359501" "del" "0" "00000" "KIF11_000157" "g.94345322_94359501del" "" "{PMID:Hull 2019:31077665}" "" "chr10:94345322_94359501del, p.(?)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.92585565_92599744del" "" "likely pathogenic" "" "0000812591" "0" "90" "10" "94368956" "94368956" "del" "0" "00000" "KIF11_000161" "g.94368956del" "" "{PMID:Wang 2019:31106028}" "" "c.567delT, p.(Asn190Thrfs*5)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92609199del" "" "pathogenic" "" "0000812626" "0" "90" "10" "94366923" "94366923" "del" "0" "00000" "KIF11_000159" "g.94366923del" "" "{PMID:Wang 2019:31106028}" "" "c.316del, p.(Gln106Lysfs*30)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.92607166del" "" "pathogenic" "" "0000812666" "0" "70" "10" "94373338" "94373338" "subst" "1.62729E-5" "00000" "KIF11_000162" "g.94373338A>G" "" "{PMID:Wang 2019:31106028}" "" "c.994A>G, p.(Ile332Val)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92613581A>G" "" "likely pathogenic" "" "0000812713" "0" "90" "10" "94388581" "94388582" "ins" "0" "00000" "KIF11_000163" "g.94388581_94388582insA" "" "{PMID:Wang 2019:31106028}" "" "c.1234_1235insA, p.(Leu412Tyrfs*13)" "heterozygous" "Germline" "?" "" "0" "" "" "g.92628824_92628825insA" "" "pathogenic" "" "0000812765" "0" "90" "10" "94405118" "94405118" "subst" "0" "00000" "KIF11_000164" "g.94405118A>G" "" "{PMID:Wang 2019:31106028}" "" "c.2268-2A>G, p.?" "heterozygous" "Germline" "?" "" "0" "" "" "g.92645361A>G" "" "pathogenic" "" "0000813595" "0" "50" "10" "94372831" "94372831" "subst" "0" "03974" "KIF11_000165" "g.94372831A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.92613074A>G" "" "VUS" "" "0000813888" "0" "70" "10" "94368867" "94368868" "del" "0" "00000" "KIF11_000149" "g.94368867_94368868del" "" "{PMID:Jiman 2020:31836858}" "" "KIF11;NM_004523.3;c.[478_479del];[478_479=]p.[(Leu160Valfs*5)];[(Leu160=)]" "heterozygous" "Unknown" "?" "" "0" "" "" "g.92609110_92609111del" "" "likely pathogenic" "" "0000814901" "0" "70" "10" "94366946" "94366946" "del" "0" "00000" "KIF11_000166" "g.94366946del" "" "{PMID:Chen 2020:31987760}" "" "336delT, Thr112fs" "error in annotation: c.336delT causes p.(Phe113Leufs*23) and not p.(Thr112fs)" "Germline" "yes" "" "0" "" "" "g.92607189del" "" "likely pathogenic" "" "0000816097" "0" "70" "10" "94397060" "94397060" "del" "0" "00000" "KIF11_000167" "g.94397060del" "" "{PMID:Zampaglione 2020:32037395}" "" "KIF11 c.1995del, p.Asp666IlefsTer3" "heterozygous" "Unknown" "?" "" "0" "" "" "g.92637303del" "" "likely pathogenic" "" "0000818247" "0" "90" "10" "94393507" "94393510" "del" "0" "00000" "KIF11_000169" "g.94393507_94393510del" "" "{PMID:Rao 2017:28494495}" "" "c.1830_1833delACAA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000818936" "0" "70" "10" "94389932" "94413558" "del" "0" "00000" "KIF11_000168" "g.(94388653_94389932)_(94413558_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "c.(1305+1_1306-1)_(*1_?)del" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819072" "0" "90" "10" "94407967" "94407967" "subst" "0" "00000" "KIF11_000170" "g.94407967A>G" "" "{PMID:Dineiro 2020:32483926}" "" "KIF11 c.2548‐2A" "heterozygous" "Germline" "?" "" "0" "" "" "g.92648210A>G" "" "pathogenic" "ACMG" "0000846336" "0" "70" "10" "94393379" "94393379" "subst" "0" "01164" "KIF11_000171" "g.94393379G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000852636" "0" "30" "10" "94397060" "94397060" "subst" "1.77497E-5" "01943" "KIF11_000176" "g.94397060C>T" "" "" "" "KIF11(NM_004523.3):c.1995C>T (p.A665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852637" "0" "50" "10" "94409685" "94409685" "subst" "0.000121843" "02330" "KIF11_000177" "g.94409685A>G" "" "" "" "KIF11(NM_004523.4):c.2864A>G (p.Q955R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862082" "0" "30" "10" "94366049" "94366049" "subst" "2.95536E-5" "02330" "KIF11_000172" "g.94366049T>C" "" "" "" "KIF11(NM_004523.4):c.105T>C (p.A35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862083" "0" "70" "10" "94388590" "94388590" "subst" "0" "02330" "KIF11_000173" "g.94388590C>T" "" "" "" "KIF11(NM_004523.4):c.1243C>T (p.Q415*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862084" "0" "50" "10" "94393461" "94393461" "subst" "0" "01943" "KIF11_000174" "g.94393461A>G" "" "" "" "KIF11(NM_004523.3):c.1784A>G (p.N595S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862085" "0" "30" "10" "94396989" "94396989" "subst" "0.000517148" "01943" "KIF11_000175" "g.94396989C>G" "" "" "" "KIF11(NM_004523.3):c.1924C>G (p.P642A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877650" "0" "70" "10" "94366140" "94366141" "del" "0" "00000" "KIF11_000152" "g.94366140_94366141del" "" "{PMID:Mears 2015:25764055}" "" "KIF11 Thr65 del 2 base pair AT" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.92606383_92606384del" "" "likely pathogenic" "" "0000877651" "0" "70" "10" "94393481" "94393481" "subst" "0" "00000" "KIF11_000011" "g.94393481C>T" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.1804C>T, p.Gln602X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92633724C>T" "" "likely pathogenic" "" "0000877652" "0" "70" "10" "94393481" "94393481" "subst" "0" "00000" "KIF11_000011" "g.94393481C>T" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.1804C>T, p.Gln602X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92633724C>T" "" "likely pathogenic" "" "0000877653" "0" "70" "10" "94372798" "94372798" "subst" "0" "00000" "KIF11_000004" "g.94372798C>T" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.700C>T, p.Arg234Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92613041C>T" "" "likely pathogenic" "" "0000877654" "0" "70" "10" "94372795" "94372795" "subst" "0" "00000" "KIF11_000001" "g.94372795A>G" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.699-2A>G, acceptor splice site" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92613038A>G" "" "likely pathogenic" "" "0000877655" "0" "70" "10" "94366148" "94366148" "dup" "0" "00000" "KIF11_000017" "g.94366148dup" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.204dup, p.Asp69X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92606391dup" "" "likely pathogenic" "" "0000877656" "0" "70" "10" "94376500" "94376501" "del" "0" "00000" "KIF11_000006" "g.94376500_94376501del" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.1039_1040delCT, p.Leu347Glufs*8" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92616743_92616744del" "" "likely pathogenic" "" "0000877657" "0" "70" "10" "94366995" "94366995" "subst" "0" "00000" "KIF11_000018" "g.94366995G>A" "" "{PMID:Balikova 2016:25996076}" "" "KIF11 c.387 + 1G>A, donor splice site" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92607238G>A" "" "likely pathogenic" "" "0000877870" "20" "70" "10" "94376501" "94376501" "dup" "0" "00000" "KIF11_000063" "g.94376501dup" "" "{PMID:Rump 2016:26846091}" "" "KIF11 c.1040dupT, p.S348Efs*8" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92616744dup" "" "likely pathogenic" "" "0000877885" "0" "70" "10" "94399661" "94399661" "del" "0" "00000" "KIF11_000178" "g.94399661del" "" "{PMID:Riedl 2017:28574136}" "" "KIF11 c.2267 + 4delA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.92639904del" "" "likely pathogenic" "" "0000877890" "0" "70" "10" "94408138" "94408138" "del" "0" "00000" "KIF11_000075" "g.94408138del" "" "{PMID:Karjosukarso 2018:30181612}" "" "KIF11 c.2717del, p.(L906*)" "heterozygous; mosaic state in the unaffected mother" "Germline" "?" "" "0" "" "" "g.92648381del" "" "likely pathogenic" "" "0000889325" "0" "50" "10" "94368954" "94368954" "subst" "0" "01804" "KIF11_000106" "g.94368954C>T" "" "" "" "KIF11(NM_004523.3):c.565C>T (p.(Arg189Cys)), KIF11(NM_004523.4):c.565C>T (p.R189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889326" "0" "30" "10" "94369247" "94369247" "subst" "0.000342321" "02330" "KIF11_000108" "g.94369247C>T" "" "" "" "KIF11(NM_004523.3):c.679C>T (p.L227=), KIF11(NM_004523.4):c.679C>T (p.L227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889327" "0" "90" "10" "94399656" "94399656" "subst" "0" "02329" "KIF11_000179" "g.94399656C>T" "" "" "" "KIF11(NM_004523.4):c.2266C>T (p.Q756*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889328" "0" "30" "10" "94405194" "94405194" "subst" "0" "02327" "KIF11_000090" "g.94405194A>G" "" "" "" "KIF11(NM_004523.3):c.2342A>G (p.Q781R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000899342" "20" "70" "10" "94409731" "94409735" "del" "0" "00000" "KIF11_000129" "g.94409731_94409735del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.2910_2914delAGAGA, p.(Glu970Aspfs*17)" "heterozygous; also affected mother, but refused testing" "Germline" "yes" "" "0" "" "" "g.92649974_92649978del" "" "likely pathogenic" "" "0000899343" "0" "70" "10" "94368883" "94368883" "subst" "0" "00000" "KIF11_000160" "g.94368883A>G" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.494A>G, p.(Asn165Ser)" "heterozygous" "De novo" "?" "" "0" "" "" "g.92609126A>G" "" "likely pathogenic" "" "0000899344" "11" "70" "10" "94376500" "94376501" "del" "0" "00000" "KIF11_000006" "g.94376500_94376501del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.1039_1040delCT, p.(Leu347Glufs*8)" "heterozygous; father carried the same mutation" "Germline" "yes" "" "0" "" "" "g.92616743_92616744del" "" "likely pathogenic" "" "0000899345" "11" "70" "10" "94376500" "94376501" "del" "0" "00000" "KIF11_000006" "g.94376500_94376501del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.1039_1040delCT, p.(Leu347Glufs*8)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92616743_92616744del" "" "likely pathogenic" "" "0000899346" "0" "70" "10" "94366923" "94366923" "del" "0" "00000" "KIF11_000159" "g.94366923del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.316delC, p.(Gln106Lysfs*30)" "heterozygous" "De novo" "?" "" "0" "" "" "g.92607166del" "" "likely pathogenic" "" "0000899347" "11" "70" "10" "94368956" "94368956" "del" "0" "00000" "KIF11_000161" "g.94368956del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.567delT, p.(Asn190Thrfs*5)" "heterozygous; elder sister and father carried the same mutation" "Germline" "yes" "" "0" "" "" "g.92609199del" "" "likely pathogenic" "" "0000899348" "11" "70" "10" "94368956" "94368956" "del" "0" "00000" "KIF11_000161" "g.94368956del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.567delT, p.(Asn190Thrfs*5)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92609199del" "" "likely pathogenic" "" "0000899349" "11" "70" "10" "94368956" "94368956" "del" "0" "00000" "KIF11_000161" "g.94368956del" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.567delT, p.(Asn190Thrfs*5)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92609199del" "" "likely pathogenic" "" "0000899350" "0" "70" "10" "94373338" "94373338" "subst" "1.62729E-5" "00000" "KIF11_000162" "g.94373338A>G" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.994A>G, p.(Ile332Val)" "heterozygous; also affected mother" "Germline" "yes" "" "0" "" "" "g.92613581A>G" "" "likely pathogenic" "" "0000899351" "0" "70" "10" "94373338" "94373338" "subst" "1.62729E-5" "00000" "KIF11_000162" "g.94373338A>G" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.994A>G, p.(Ile332Val)" "heterozygous; also affected mother" "Germline" "yes" "" "0" "" "" "g.92613581A>G" "" "likely pathogenic" "" "0000899352" "0" "70" "10" "94388581" "94388582" "ins" "0" "00000" "KIF11_000163" "g.94388581_94388582insA" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.1234_1235insA, p.(Leu412Tyrfs*13)" "heterozygous" "De novo" "?" "" "0" "" "" "g.92628824_92628825insA" "" "likely pathogenic" "" "0000899353" "0" "70" "10" "94366157" "94366157" "subst" "0" "00000" "KIF11_000180" "g.94366157A>C" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.210+3A>C, p.?" "heterozygous" "De novo" "?" "" "0" "" "" "g.92606400A>C" "" "likely pathogenic" "" "0000899354" "0" "70" "10" "94366411" "94366411" "subst" "0" "00000" "KIF11_000158" "g.94366411C>A" "" "{PMID:Chen 2020:32730767}" "" "KIF11 c.246C>A, p.(Tyr82*)" "heterozygous; parents not available" "Unknown" "?" "" "0" "" "" "g.92606654C>A" "" "likely pathogenic" "" "0000899406" "10" "70" "10" "94369188" "94369188" "del" "0" "00000" "KIF11_000181" "g.94369188del" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.620delA: p.K207Rfs*8" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92609431del" "" "likely pathogenic" "" "0000899407" "10" "70" "10" "94369188" "94369188" "del" "0" "00000" "KIF11_000181" "g.94369188del" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.620delA: p.K207Rfs*8" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92609431del" "" "likely pathogenic" "" "0000899408" "0" "70" "10" "94369237" "94369238" "dup" "0" "00000" "KIF11_000182" "g.94369237_94369238dup" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.669_670dup," "heterozygous" "De novo" "?" "" "0" "" "" "g.92609480_92609481dup" "" "likely pathogenic" "" "0000899409" "20" "70" "10" "94381172" "94381172" "subst" "0" "00000" "KIF11_000007" "g.94381172C>T" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.1159C>T: p.R387X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000899410" "0" "70" "10" "94381172" "94381172" "subst" "0" "00000" "KIF11_000007" "g.94381172C>T" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.1159C>T: p.R387X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92621415C>T" "" "likely pathogenic" "" "0000899411" "20" "70" "10" "94397143" "94397143" "subst" "0" "00000" "KIF11_000183" "g.94397143G>T" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.2002-1G>T" "heterozygous" "Germline" "yes" "" "0" "" "" "g.92637386G>T" "" "likely pathogenic" "" "0000899412" "0" "70" "10" "94397225" "94397227" "delins" "0" "00000" "KIF11_000184" "g.94397225_94397227delinsG" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.2083_2085 delinsG: p.C695Vfs*4" "heterozygous" "De novo" "?" "" "0" "" "" "g.92637468_92637470delinsG" "" "likely pathogenic" "" "0000899413" "0" "70" "10" "94397229" "94397232" "del" "0" "00000" "KIF11_000185" "g.94397229_94397232del" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.2087_2090 delCCTT: p.S695Wfs*11" "heterozygous" "De novo" "?" "" "0" "" "" "g.92637472_92637475del" "" "likely pathogenic" "" "0000899414" "0" "70" "10" "94405359" "94405362" "del" "0" "00000" "KIF11_000036" "g.94405359_94405362del" "" "{PMID:Shurygina 2020:33137195}" "" "KIF11 c.2507_2510del: p.S836X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.92645602_92645605del" "" "likely pathogenic" "" "0000899415" "1" "70" "22" "50659625" "50659625" "subst" "4.06078E-6" "00000" "KIF11_000002" "g.50659625G>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T: p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50221196G>A" "" "likely pathogenic" "" "0000899416" "1" "70" "22" "50659625" "50659625" "subst" "4.06078E-6" "00000" "KIF11_000002" "g.50659625G>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T:p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50221196G>A" "" "likely pathogenic" "" "0000899417" "1" "70" "15" "43695895" "43695895" "subst" "0.000301146" "00000" "TP53BP1_000008" "g.43695895G>T" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP4 c.1746G>T:p.Leu582 =" "heterozygous" "Unknown" "?" "" "0" "" "" "g.43403697G>T" "" "likely pathogenic" "" "0000899418" "2" "70" "22" "50659223" "50659223" "subst" "0" "00000" "KIF11_000001" "g.50659223C>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.G3565T: p.G1189X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50220794C>A" "" "likely pathogenic" "" "0000899419" "2" "70" "22" "50659223" "50659223" "subst" "0" "00000" "KIF11_000001" "g.50659223C>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T:p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50220794C>A" "" "likely pathogenic" "" "0000899420" "2" "70" "15" "43693968" "43693968" "subst" "8.12447E-6" "00000" "KIF11_000001" "g.43693968C>T" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP4 c.1651C>T:p.Arg551*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.43401770C>T" "" "likely pathogenic" "" "0000949474" "0" "90" "10" "94369187" "94369187" "subst" "0" "02327" "KIF11_000186" "g.94369187A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949475" "0" "30" "10" "94390010" "94390010" "subst" "0.000229332" "02330" "KIF11_000080" "g.94390010T>G" "" "" "" "KIF11(NM_004523.3):c.1383T>G (p.L461=), KIF11(NM_004523.4):c.1383T>G (p.L461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965939" "0" "50" "10" "94366415" "94366415" "subst" "8.13035E-6" "02325" "KIF11_000187" "g.94366415A>G" "" "" "" "KIF11(NM_004523.4):c.250A>G (p.S84G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965940" "0" "70" "10" "94388655" "94388655" "subst" "0" "02327" "KIF11_000188" "g.94388655A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979244" "0" "30" "10" "94362610" "94362613" "dup" "0" "01804" "KIF11_000189" "g.94362610_94362613dup" "" "" "" "KIF11(NM_004523.4):c.78-3412_78-3409dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979245" "0" "30" "10" "94362612" "94362613" "del" "0" "01804" "KIF11_000190" "g.94362612_94362613del" "" "" "" "KIF11(NM_004523.4):c.78-3410_78-3409del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979246" "0" "30" "10" "94408003" "94408003" "subst" "1.22359E-5" "01804" "KIF11_000191" "g.94408003A>G" "" "" "" "KIF11(NM_004523.3):c.2582A>G (p.(Asp861Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990007" "0" "70" "10" "94388595" "94388597" "del" "0" "03544" "KIF11_000192" "g.94388595_94388597del" "" "" "" "" "found in a fetus with an unspecified abnormality brain" "De novo" "-" "" "0" "" "" "g.92628838_92628840del" "" "VUS (!)" "ACMG" "0000998611" "0" "30" "10" "94353214" "94353214" "subst" "0.000729363" "01804" "KIF11_000064" "g.94353214G>C" "" "" "" "KIF11(NM_004523.3):c.77+5G>C (p.?), KIF11(NM_004523.4):c.77+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998612" "0" "50" "10" "94396961" "94396963" "del" "0" "01804" "KIF11_000193" "g.94396961_94396963del" "" "" "" "KIF11(NM_004523.3):c.1896_1898delTCT (p.(Leu633del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998613" "0" "30" "10" "94410222" "94410222" "subst" "0" "01804" "KIF11_000194" "g.94410222C>G" "" "" "" "KIF11(NM_004523.3):c.2987C>G (p.(Ser996Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014694" "0" "90" "10" "94393481" "94393481" "subst" "0" "02329" "KIF11_000011" "g.94393481C>T" "" "" "" "KIF11(NM_004523.4):c.1804C>T (p.Q602*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001030173" "0" "70" "10" "94405112" "94405125" "delins" "0" "04333" "KIF11_000195" "g.94405112_94405125delinsGTTGACTATA" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.92645355_92645368delinsGTTGACTATA" "" "likely pathogenic" "" "0001038098" "0" "30" "10" "94369099" "94369100" "del" "0" "01804" "KIF11_000196" "g.94369099_94369100del" "" "" "" "KIF11(NM_004523.4):c.574-43_574-42del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038099" "0" "30" "10" "94391699" "94391699" "del" "0" "01804" "KIF11_000197" "g.94391699del" "" "" "" "KIF11(NM_004523.4):c.1495-544del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038100" "0" "30" "10" "94393185" "94393185" "subst" "0" "01804" "KIF11_000198" "g.94393185G>A" "" "" "" "KIF11(NM_004523.4):c.1703-195G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058822" "0" "70" "10" "94353188" "94353188" "subst" "0" "00006" "KIF11_000199" "g.94353188T>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.92593431T>A" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KIF11 ## Count = 268 "{{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}}" "0000017941" "00001806" "75" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "10" "0000017942" "00001806" "75" "3016" "0" "3016" "0" "c.3016del" "r.(?)" "p.(Ile1006Leufs*62)" "21" "0000017943" "00001806" "75" "1039" "0" "1040" "0" "c.1039_1040del" "r.(?)" "p.(Leu347Glufs*8)" "9" "0000017944" "00001806" "75" "432" "0" "432" "0" "c.432T>G" "r.(?)" "p.(Phe144Leu)" "5" "0000017945" "00001806" "75" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Cys)" "20" "0000017946" "00001806" "75" "1425" "0" "1426" "0" "c.1425_1426delinsAAA" "r.(?)" "p.(Val476Asnfs*2)" "12" "0000017947" "00001806" "75" "1592" "0" "1592" "0" "c.1592del" "r.(?)" "p.(Gln531Argfs*8)" "13" "0000017948" "00001806" "75" "699" "-2" "699" "-2" "c.699-2A>G" "r.spl?" "p.?" "6i" "0000017950" "00001806" "75" "1963" "0" "1964" "0" "c.1963_1964dup" "r.(?)" "p.(His656Serfs*8)" "15" "0000017951" "00001806" "75" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "10" "0000017952" "00001806" "75" "704" "0" "704" "0" "c.704C>G" "r.(?)" "p.(Ser235Cys)" "7" "0000017954" "00001806" "75" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "7" "0000017955" "00001806" "75" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Gln602*)" "14" "0000017956" "00001806" "75" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "2" "0000020748" "00001806" "75" "204" "0" "204" "0" "c.204dup" "r.(?)" "p.(Asp69*)" "2" "0000020749" "00001806" "75" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Glu129*)" "4" "0000020750" "00001806" "75" "387" "1" "387" "1" "c.387+1G>A" "r.spl?" "p.?" "4i" "0000020751" "00001806" "75" "775" "0" "775" "0" "c.775G>T" "r.(?)" "p.(Gly259*)" "7" "0000020752" "00001806" "75" "757" "0" "758" "0" "c.757_758del" "r.(?)" "p.(Glu253Argfs*4)" "7" "0000020753" "00001806" "75" "1129" "-4" "1133" "0" "c.1129-4_1133delinsTC" "r.spl?" "p.?" "9i" "0000020754" "00001806" "75" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "10" "0000020755" "00001806" "75" "2267" "1" "2267" "1" "c.2267+1G>A" "r.spl?" "p.?" "17i" "0000020756" "00001806" "75" "2808" "0" "2813" "0" "c.2808_2813delinsCA" "r.(?)" "p.(Thr937Argfs*2)" "20" "0000039999" "00001806" "77" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(His244Tyr)" "7" "0000040000" "00001806" "07" "2830" "0" "2830" "0" "c.2830C>G" "r.(?)" "p.(Arg944Gly)" "20" "0000040002" "00001806" "07" "1252" "0" "1252" "0" "c.1252C>T" "r.(?)" "p.(Gln418*)" "11" "0000040003" "00001806" "07" "2922" "0" "2922" "0" "c.2922G>A" "r.(=)" "p.(=)" "20" "0000040004" "00001806" "07" "2922" "0" "2922" "0" "c.2922G>A" "r.(=)" "p.(=)" "20" "0000072878" "00001806" "77" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000072879" "00001806" "77" "843" "0" "844" "0" "c.843_844del" "r.(?)" "p.(Arg281Serfs*34)" "8" "0000072880" "00001806" "77" "1134" "0" "1135" "0" "c.1134_1135del" "r.(?)" "p.(Thr379Glyfs*15)" "10" "0000072881" "00001806" "77" "1217" "1" "1217" "1" "c.1217+1G>A" "r.spl?" "p.?" "10i" "0000072882" "00001806" "77" "698" "2" "698" "2" "c.698+2T>C" "r.spl?" "p.?" "6i" "0000072883" "00001806" "77" "2512" "0" "2512" "0" "c.2512A>C" "r.(?)" "p.(Asn838His)" "18" "0000072884" "00001806" "77" "2172" "0" "2176" "0" "c.2172_2176del" "r.(?)" "p.(Lys724Asnfs*16)" "17" "0000072885" "00001806" "77" "2402" "0" "2403" "0" "c.2402_2403del" "r.(?)" "p.(Ser801*)" "18" "0000072886" "00001806" "77" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "10" "0000072888" "00001806" "77" "2507" "0" "2510" "0" "c.2507_2510del" "r.(?)" "p.(Ser836*)" "18" "0000072889" "00001806" "77" "308" "1" "308" "1" "c.308+1G>A" "r.spl?" "p.?" "3i" "0000072890" "00001806" "77" "1116" "0" "1117" "0" "c.1116_1117dup" "r.(?)" "p.(Ala373Glufs*11)" "9" "0000072891" "00001806" "77" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "10" "0000072892" "00001806" "00" "2302" "0" "2302" "0" "c.2302del" "r.(?)" "p.(His768Thrfs*31)" "18" "0000072893" "00001806" "77" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Gln955*)" "20" "0000072894" "00001806" "00" "2402" "0" "2403" "0" "c.2402_2403del" "r.(?)" "p.(Ser801*)" "18" "0000072895" "00001806" "77" "1402" "0" "1402" "0" "c.1402T>G" "r.(?)" "p.(Leu468Val)" "12" "0000072896" "00001806" "77" "2687" "0" "2687" "0" "c.2687T>C" "r.(?)" "p.(Leu896Pro)" "19" "0000072897" "00001806" "77" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Gln701*)" "16" "0000075695" "00001806" "77" "1408" "0" "1408" "0" "c.1408G>T" "r.(?)" "p.(Glu470*)" "12" "0000075696" "00001806" "77" "652" "0" "652" "0" "c.652dup" "r.(?)" "p.(Ala218Glyfs*16)" "6" "0000075697" "00001806" "77" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47*)" "2" "0000075698" "00001806" "77" "790" "-1" "790" "-1" "c.790-1G>T" "r.spl?" "p.?" "7i" "0000075699" "00001806" "77" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Arg221Gly)" "6" "0000076688" "00001806" "77" "2300" "0" "2301" "0" "c.2300_2301del" "r.(?)" "p.(Phe767Serfs*8)" "18" "0000076731" "00001806" "77" "2" "0" "2" "0" "c.2T>C" "r.(?)" "(p.Met1Thr)" "1" "0000076732" "00001806" "77" "790" "-1" "790" "-1" "c.790-1G>A" "r.spl?" "p.?" "7i" "0000076733" "00001806" "77" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(His244Tyr)" "7" "0000076734" "00001806" "77" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Glu344Lys)" "8" "0000087502" "00001806" "70" "1040" "0" "1040" "0" "c.1040dup" "r.(?)" "p.(Ser348Glufs*8)" "9" "0000246877" "00001806" "10" "2153" "0" "2153" "0" "c.2153A>T" "r.(?)" "p.(His718Leu)" "" "0000246940" "00001806" "10" "309" "-18" "309" "-18" "c.309-18A>G" "r.(=)" "p.(=)" "" "0000246941" "00001806" "10" "1702" "9" "1702" "9" "c.1702+9A>T" "r.(=)" "p.(=)" "" "0000246942" "00001806" "10" "2770" "16" "2770" "16" "c.2770+16A>G" "r.(=)" "p.(=)" "" "0000246943" "00001806" "10" "3190" "0" "3190" "0" "c.*19A>G" "r.(=)" "p.(=)" "" "0000246949" "00001806" "30" "2512" "0" "2512" "0" "c.2512A>C" "r.(?)" "p.(Asn838His)" "" "0000246950" "00001806" "30" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Thr65Ala)" "" "0000253370" "00001806" "10" "2153" "0" "2153" "0" "c.2153A>T" "r.(?)" "p.(His718Leu)" "" "0000254297" "00001806" "30" "1566" "0" "1566" "0" "c.1566A>T" "r.(?)" "p.(Ala522=)" "" "0000254930" "00001806" "30" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(Gln781Arg)" "" "0000255146" "00001806" "30" "2934" "0" "2934" "0" "c.2934A>G" "r.(?)" "p.(Val978=)" "" "0000278518" "00001806" "10" "3177" "0" "3177" "0" "c.*6T>C" "r.(=)" "p.(=)" "" "0000278519" "00001806" "10" "1703" "-13" "1703" "-13" "c.1703-13T>C" "r.(=)" "p.(=)" "" "0000278520" "00001806" "10" "1806" "0" "1806" "0" "c.1806G>A" "r.(?)" "p.(Gln602=)" "" "0000278521" "00001806" "10" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Val627Leu)" "" "0000278522" "00001806" "30" "1984" "0" "1984" "0" "c.1984T>A" "r.(?)" "p.(Leu662Met)" "" "0000278523" "00001806" "30" "2208" "0" "2208" "0" "c.2208G>A" "r.(?)" "p.(Leu736=)" "" "0000278524" "00001806" "10" "2922" "6" "2922" "6" "c.2922+6T>C" "r.(=)" "p.(=)" "" "0000278525" "00001806" "10" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Leu1042Phe)" "" "0000278526" "00001806" "30" "77" "5" "77" "5" "c.77+5G>C" "r.spl?" "p.?" "" "0000290251" "00001806" "90" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387Ter)" "" "0000290252" "00001806" "30" "1383" "0" "1383" "0" "c.1383T>G" "r.(?)" "p.(Leu461=)" "" "0000290253" "00001806" "50" "1850" "0" "1850" "0" "c.1850G>T" "r.(?)" "p.(Ser617Ile)" "" "0000290254" "00001806" "50" "2921" "0" "2921" "0" "c.2921C>T" "r.(?)" "p.(Pro974Leu)" "" "0000290255" "00001806" "30" "3150" "0" "3150" "0" "c.3150G>C" "r.(?)" "p.(Leu1050=)" "" "0000290256" "00001806" "30" "447" "0" "447" "0" "c.447T>C" "r.(?)" "p.(Asp149=)" "" "0000290257" "00001806" "30" "77" "9" "77" "11" "c.77+9_77+11del" "r.(=)" "p.(=)" "" "0000321678" "00001806" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Ala530Thr)" "" "0000321679" "00001806" "50" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Glu856Lys)" "" "0000321681" "00001806" "50" "2998" "0" "2998" "0" "c.2998G>A" "r.(?)" "p.(Gly1000Ser)" "" "0000338913" "00001806" "10" "2770" "16" "2770" "16" "c.2770+16A>G" "r.(=)" "p.(=)" "" "0000340570" "00001806" "30" "1284" "0" "1284" "0" "c.1284T>A" "r.(?)" "p.(Ala428=)" "" "0000343064" "00001806" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Ter)" "" "0000344887" "00001806" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Gln525Ter)" "" "0000346493" "00001806" "90" "1540" "0" "1540" "0" "c.1540del" "r.(?)" "p.(His514IlefsTer25)" "" "0000347918" "00001806" "90" "2878" "0" "2878" "0" "c.2878dup" "r.(?)" "p.(Met960AsnfsTer29)" "" "0000351447" "00001806" "90" "308" "1" "308" "1" "c.308+1G>A" "r.spl?" "p.?" "" "0000351448" "00001806" "90" "308" "5" "308" "5" "c.308+5G>T" "r.spl?" "p.?" "" "0000356873" "00001806" "70" "2717" "0" "2717" "0" "c.2717del" "r.(?)" "p.(Leu906*)" "19" "0000356874" "00001806" "30" "2717" "0" "2717" "0" "c.2717del" "r.(?)" "p.(Leu906*)" "19" "0000368215" "00001806" "90" "1727" "0" "1728" "0" "c.1727_1728del" "r.(?)" "p.(Ser576Cysfs*29)" "14" "0000368700" "00001806" "99" "245" "0" "245" "0" "c.245A>T" "r.(?)" "p.(Tyr82Phe)" "3" "0000368701" "00001806" "99" "308" "1" "308" "1" "c.308+1G>T" "r.spl" "p.?" "3i" "0000368702" "00001806" "99" "436" "0" "436" "0" "c.436A>T" "r.(?)" "p.(Lys146*)" "5" "0000368703" "00001806" "99" "1985" "0" "1985" "0" "c.1985T>A" "r.(?)" "p.(Leu662*)" "15" "0000368704" "00001806" "99" "2005" "0" "2005" "0" "c.2005del" "r.(?)" "p.(Glu669Lysfs*7)" "16" "0000368705" "00001806" "99" "2160" "1" "2160" "1" "c.2160+1G>A" "r.spl" "p.?" "16i" "0000368706" "00001806" "99" "2244" "0" "2247" "0" "c.2244_2247dup" "r.(?)" "p.(Val750*)" "17" "0000368708" "00001806" "75" "2304" "0" "2305" "0" "c.2304_2305del" "r.(?)" "p.(His768Glnfs*7)" "18" "0000368709" "00001806" "99" "2547" "2" "2547" "2" "c.2547+2T>C" "r.spl?" "p.?" "18i" "0000368710" "00001806" "99" "2723" "0" "2723" "0" "c.2723dup" "r.(?)" "p.(Leu909Alafs*2)" "19" "0000368711" "00001806" "99" "2782" "0" "2783" "0" "c.2782_2783dup" "r.(?)" "p.(Gln928Hisfs*13)" "20" "0000368712" "00001806" "99" "2922" "0" "2922" "0" "c.2922G>A" "r.(?)" "p.(Pro974=)" "20" "0000368713" "00001806" "99" "630" "0" "630" "0" "c.630del" "r.(?)" "p.(Tyr211Ilefs*4)" "6" "0000368714" "00001806" "99" "790" "-3" "790" "-3" "c.790-3A>G" "r.spl?" "p.?" "7i" "0000541618" "00001806" "50" "77" "3" "77" "3" "c.77+3A>G" "r.spl?" "p.?" "" "0000541619" "00001806" "30" "77" "5" "77" "5" "c.77+5G>C" "r.spl?" "p.?" "" "0000541620" "00001806" "10" "77" "9" "77" "11" "c.77+9_77+11del" "r.(=)" "p.(=)" "" "0000541621" "00001806" "30" "211" "-14" "211" "-14" "c.211-14dup" "r.(=)" "p.(=)" "" "0000541623" "00001806" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Ter)" "" "0000541624" "00001806" "70" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "" "0000541625" "00001806" "50" "308" "3" "308" "3" "c.308+3A>C" "r.spl?" "p.?" "" "0000541626" "00001806" "30" "308" "13" "308" "13" "c.308+13G>A" "r.(=)" "p.(=)" "" "0000541627" "00001806" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000541628" "00001806" "50" "665" "0" "665" "0" "c.665C>T" "r.(?)" "p.(Thr222Ile)" "" "0000541629" "00001806" "30" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Leu227=)" "" "0000541631" "00001806" "90" "1078" "0" "1085" "0" "c.1078_1085del" "r.(?)" "p.(Leu360AlafsTer2)" "" "0000541632" "00001806" "10" "1129" "-9" "1129" "-9" "c.1129-9C>T" "r.(=)" "p.(=)" "" "0000541633" "00001806" "30" "1331" "0" "1331" "0" "c.1331A>T" "r.(?)" "p.(Lys444Ile)" "" "0000541634" "00001806" "90" "1679" "0" "1679" "0" "c.1679dup" "r.(?)" "p.(Glu561ArgfsTer4)" "" "0000541635" "00001806" "30" "1703" "-7" "1703" "-7" "c.1703-7G>C" "r.(=)" "p.(=)" "" "0000541636" "00001806" "30" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Asn569Ser)" "" "0000541637" "00001806" "30" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Asn569Ser)" "" "0000541638" "00001806" "10" "1952" "0" "1952" "0" "c.1952A>G" "r.(?)" "p.(Asn651Ser)" "" "0000541639" "00001806" "90" "2161" "-2" "2161" "-2" "c.2161-2A>G" "r.spl?" "p.?" "" "0000541640" "00001806" "10" "2166" "0" "2166" "0" "c.2166T>G" "r.(?)" "p.(Leu722=)" "" "0000541641" "00001806" "30" "2771" "-6" "2771" "-6" "c.2771-6T>A" "r.(=)" "p.(=)" "" "0000541642" "00001806" "30" "2771" "-6" "2771" "-6" "c.2771-6T>A" "r.(=)" "p.(=)" "" "0000541644" "00001806" "30" "2775" "0" "2775" "0" "c.2775G>A" "r.(?)" "p.(Thr925=)" "" "0000541646" "00001806" "30" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Leu1042Phe)" "" "0000612813" "00001806" "70" "789" "5" "789" "5" "c.789+5G>A" "r.spl?" "p.?" "" "0000612814" "00001806" "30" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Val398=)" "" "0000612815" "00001806" "30" "2166" "0" "2166" "0" "c.2166T>G" "r.(?)" "p.(Leu722=)" "" "0000612816" "00001806" "70" "2449" "0" "2450" "0" "c.2449_2450del" "r.(?)" "p.(Gln817GlufsTer3)" "" "0000629447" "00001806" "90" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83*)" "" "0000629448" "00001806" "70" "2910" "0" "2914" "0" "c.2910_2914del" "r.(?)" "p.(Glu970Aspfs*17)" "" "0000629449" "00001806" "90" "308" "88" "387" "328" "c.308+88_387+328del" "r.?" "p.?" "3i_4i" "0000629450" "00001806" "90" "-7811" "0" "78" "-6072" "c.-7811_78-6072del" "r.0?" "p.0?" "_1_1i" "0000629452" "00001806" "90" "4485" "-21" "4485" "-21" "c.4485-21A>C" "r.spl?" "p.(?)" "" "0000631006" "00001806" "90" "131" "0" "132" "0" "c.131_132dup" "r.(?)" "p.(Pro45Ilefs*92)" "2" "0000631251" "00001806" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Gln744*)" "17" "0000631252" "00001806" "90" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Gln955*)" "20" "0000631492" "00001806" "90" "2952" "0" "2955" "0" "c.2952_2955del" "r.(?)" "p.(Gln985Ilefs*6)" "21" "0000631733" "00001806" "90" "1844" "0" "1846" "0" "c.1844_1846del" "r.(?)" "p.(Ala615del)" "14" "0000631738" "00001806" "90" "1844" "0" "1846" "0" "c.1844_1846del" "r.(?)" "p.(Ala615del)" "14" "0000631739" "00001806" "90" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Glu270*)" "8" "0000643106" "00001806" "90" "511" "0" "511" "0" "c.511C>G" "r.(?)" "p.(Leu171Val)" "5" "0000643112" "00001806" "90" "790" "-2" "790" "-2" "c.790-2A>C" "r.spl" "p.?" "4" "0000643114" "00001806" "90" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Gln525*)" "13" "0000643115" "00001806" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Gln842*)" "18" "0000643117" "00001806" "90" "2807" "0" "2807" "0" "c.2807C>G" "r.(?)" "p.(Ser936*)" "20" "0000643119" "00001806" "90" "2952" "0" "2952" "0" "c.2952del" "r.(?)" "p.(Gln985Serfs*7)" "21" "0000643120" "00001806" "70" "3073" "0" "3073" "0" "c.3073A>G" "r.(?)" "p.(Arg1025Gly)" "22" "0000673559" "00001806" "90" "77" "1" "77" "1" "c.77+1G>A" "r.spl?" "p.?" "" "0000678959" "00001806" "30" "1779" "0" "1779" "0" "c.1779A>C" "r.(?)" "p.(Pro593=)" "" "0000678960" "00001806" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Asp861=)" "" "0000685267" "00001806" "90" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Trp127*)" "" "0000690843" "00001806" "30" "2775" "0" "2775" "0" "c.2775G>A" "r.(?)" "p.(Thr925=)" "" "0000704153" "00001806" "90" "1249" "0" "1249" "0" "c.1249G>T" "r.(?)" "p.(Glu417Ter)" "" "0000714063" "00001806" "70" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Gln788*)" "" "0000714084" "00001806" "70" "478" "0" "479" "0" "c.478_479del" "r.(?)" "p.(Leu160Valfs*5)" "" "0000723025" "00001806" "90" "1039" "0" "1040" "0" "c.1039_1040del" "r.(?)" "p.(Leu347GlufsTer8)" "" "0000723026" "00001806" "10" "1578" "0" "1578" "0" "c.1578C>A" "r.(?)" "p.(His526Gln)" "" "0000730684" "00001806" "90" "1844" "0" "1846" "0" "c.1844_1846del" "r.(?)" "p.(Ala615del)" "14" "0000730685" "00001806" "90" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Glu270*)" "8" "0000732887" "00001806" "70" "1217" "3" "1217" "3" "c.1217+3A>C" "r.spl" "p.?" "" "0000732888" "00001806" "70" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Tyr66Hisfs*3)" "" "0000733336" "00001806" "70" "2003" "0" "2004" "0" "c.2003_2004del" "r.(?)" "p.(Ile668Argfs*16)" "" "0000733337" "00001806" "70" "2018" "0" "2019" "0" "c.2018_2019del" "r.(?)" "p.(Lys673Argfs*11)" "" "0000804636" "00001806" "50" "193" "0" "195" "0" "c.193_195del" "r.(?)" "p.(Thr65del)" "" "0000811596" "00001806" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asn165Ser)" "5" "0000811597" "00001806" "70" "1039" "0" "1040" "0" "c.1039_1040del" "r.(?)" "p.(Leu347Glufs*8)" "9" "0000811598" "00001806" "70" "316" "0" "316" "0" "c.316del" "r.(?)" "p.(Gln106Lysfs*30)" "4" "0000811599" "00001806" "70" "567" "0" "567" "0" "c.567del" "r.(?)" "p.(Asn190Thrfs*5)" "5" "0000811600" "00001806" "70" "1234" "0" "1235" "0" "c.1234_1235insA" "r.(?)" "p.(Leu412Tyrfs*13)" "11" "0000811601" "00001806" "70" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Tyr82*)" "3" "0000811798" "00001806" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83*)" "" "0000811799" "00001806" "70" "2910" "0" "2914" "0" "c.2910_2914del" "r.(?)" "p.(Glu970Aspfs*17)" "" "0000811800" "00001806" "70" "308" "88" "387" "328" "c.308+88_387+328del" "r.(?)" "p.(?)" "" "0000811801" "00001806" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000811802" "00001806" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000812591" "00001806" "90" "567" "0" "567" "0" "c.567del" "r.(?)" "p.(Asn190Thrfs*5)" "" "0000812626" "00001806" "90" "316" "0" "316" "0" "c.316del" "r.(?)" "p.(Gln106Lysfs*30)" "" "0000812666" "00001806" "70" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000812713" "00001806" "90" "1234" "0" "1235" "0" "c.1234_1235insA" "r.(?)" "p.(Leu412Tyrfs*13)" "" "0000812765" "00001806" "90" "2268" "-2" "2268" "-2" "c.2268-2A>G" "r.spl" "p.(?)" "" "0000813595" "00001806" "50" "733" "0" "733" "0" "c.733A>G" "r.(733a>g)" "p.(Met245Val)" "" "0000813888" "00001806" "70" "478" "0" "479" "0" "c.478_479del" "r.(?)" "p.(Leu160Valfs*5)" "" "0000814901" "00001806" "70" "336" "0" "336" "0" "c.336delT" "r.(?)" "p.(Phe113Leufs*23)" "" "0000816097" "00001806" "70" "1995" "0" "1995" "0" "c.1995del" "r.(?)" "p.(Asp666Ilefs*3)" "" "0000818247" "00001806" "90" "1830" "0" "1833" "0" "c.1830_1833del" "r.(?)" "p.(Glu610Aspfs*3)" "14" "0000818936" "00001806" "70" "0" "0" "0" "0" "c.(1305+1_1306-1)_*1599{0}" "r.?" "p.?" "11i_22_" "0000819072" "00001806" "90" "2548" "-2" "2548" "-2" "c.2548-2A>G" "r.spl?" "p.?" "" "0000846336" "00001806" "70" "1703" "-1" "1703" "-1" "c.1703-1G>A" "r.spl?" "p.?" "" "0000852636" "00001806" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Ala665=)" "" "0000852637" "00001806" "50" "2864" "0" "2864" "0" "c.2864A>G" "r.(?)" "p.(Gln955Arg)" "" "0000862082" "00001806" "30" "105" "0" "105" "0" "c.105T>C" "r.(?)" "p.(Ala35=)" "" "0000862083" "00001806" "70" "1243" "0" "1243" "0" "c.1243C>T" "r.(?)" "p.(Gln415*)" "" "0000862084" "00001806" "50" "1784" "0" "1784" "0" "c.1784A>G" "r.(?)" "p.(Asn595Ser)" "" "0000862085" "00001806" "30" "1924" "0" "1924" "0" "c.1924C>G" "r.(?)" "p.(Pro642Ala)" "" "0000877650" "00001806" "70" "196" "0" "197" "0" "c.196_197del" "r.(?)" "p.(Tyr66Hisfs*3)" "" "0000877651" "00001806" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Gln602Ter)" "14" "0000877652" "00001806" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Gln602Ter)" "14" "0000877653" "00001806" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "7" "0000877654" "00001806" "70" "699" "-2" "699" "-2" "c.699-2A>G" "r.(?)" "p.?" "6i" "0000877655" "00001806" "70" "204" "0" "204" "0" "c.204dup" "r.(?)" "p.(Asp69Ter)" "2" "0000877656" "00001806" "70" "1039" "0" "1040" "0" "c.1039_1040delCT" "r.(?)" "p.(Leu347GlufsTer8)" "9" "0000877657" "00001806" "70" "387" "1" "387" "1" "c.387+1G>A" "r.(?)" "p.?" "4i" "0000877870" "00001806" "70" "1040" "0" "1040" "0" "c.1040dupT" "r.(?)" "p.(Ser348Glufs*8)" "10" "0000877885" "00001806" "70" "2267" "4" "2267" "4" "c.2267+4delA" "r.(?)" "p.?" "10" "0000877890" "00001806" "70" "2717" "0" "2717" "0" "c.2717del" "r.(?)" "p.(Leu906*)" "10" "0000889325" "00001806" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Arg189Cys)" "" "0000889326" "00001806" "30" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Leu227=)" "" "0000889327" "00001806" "90" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Gln756*)" "" "0000889328" "00001806" "30" "2342" "0" "2342" "0" "c.2342A>G" "r.(?)" "p.(Gln781Arg)" "" "0000899342" "00001806" "70" "2910" "0" "2914" "0" "c.2910_2914delAGAGA" "r.(?)" "p.(Glu970Aspfs*17)" "" "0000899343" "00001806" "70" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asn165Ser)" "" "0000899344" "00001806" "70" "1039" "0" "1040" "0" "c.1039_1040delCT" "r.(?)" "p.(Leu347Glufs*8)" "" "0000899345" "00001806" "70" "1039" "0" "1040" "0" "c.1039_1040delCT" "r.(?)" "p.(Leu347Glufs*8)" "" "0000899346" "00001806" "70" "316" "0" "316" "0" "c.316delC" "r.(?)" "p.(Gln106Lysfs*30)" "" "0000899347" "00001806" "70" "567" "0" "567" "0" "c.567delT" "r.(?)" "p.(Asn190Thrfs*5)" "" "0000899348" "00001806" "70" "567" "0" "567" "0" "c.567delT" "r.(?)" "p.(Asn190Thrfs*5)" "" "0000899349" "00001806" "70" "567" "0" "567" "0" "c.567delT" "r.(?)" "p.(Asn190Thrfs*5)" "" "0000899350" "00001806" "70" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000899351" "00001806" "70" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Ile332Val)" "" "0000899352" "00001806" "70" "1234" "0" "1235" "0" "c.1234_1235insA" "r.(?)" "p.(Leu412Tyrfs*13)" "" "0000899353" "00001806" "70" "210" "3" "210" "3" "c.210+3A>C" "r.spl?" "p.?" "" "0000899354" "00001806" "70" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Tyr82*)" "" "0000899406" "00001806" "70" "620" "0" "620" "0" "c.620delA" "r.(?)" "p.(Lys207Argfs*8)" "" "0000899407" "00001806" "70" "620" "0" "620" "0" "c.620delA" "r.(?)" "p.(Lys207Argfs*8)" "" "0000899408" "00001806" "70" "669" "0" "670" "0" "c.669_670dup" "r.(?)" "p.(Ala224Valfs*5)" "" "0000899409" "00001806" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "" "0000899410" "00001806" "70" "1159" "0" "1159" "0" "c.1159C>T" "r.(?)" "p.(Arg387*)" "" "0000899411" "00001806" "70" "2002" "-1" "2002" "-1" "c.2002-1G>T" "r.spl" "p.?" "" "0000899412" "00001806" "70" "2083" "0" "2085" "0" "c.2083_2085delinsG" "r.(?)" "p.(Cys695Valfs*4)" "" "0000899413" "00001806" "70" "2087" "0" "2090" "0" "c.2087_2090delCCTT" "r.(?)" "p.(Ser696Trpfs*11)" "" "0000899414" "00001806" "70" "2507" "0" "2510" "0" "c.2507_2510del" "r.(?)" "p.(Ser836*)" "" "0000899415" "00001806" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(His1055Tyr)" "" "0000899416" "00001806" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(His1055Tyr)" "" "0000899417" "00001806" "70" "1746" "0" "1746" "0" "c.1746G>T" "r.(?)" "p.(Leu582=)" "" "0000899418" "00001806" "70" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Gly1189*)" "" "0000899419" "00001806" "70" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Gly1189*)" "" "0000899420" "00001806" "70" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Arg551*)" "" "0000949474" "00001806" "90" "619" "0" "619" "0" "c.619A>T" "r.(?)" "p.(Lys207*)" "" "0000949475" "00001806" "30" "1383" "0" "1383" "0" "c.1383T>G" "r.(?)" "p.(Leu461=)" "" "0000965939" "00001806" "50" "250" "0" "250" "0" "c.250A>G" "r.(?)" "p.(Ser84Gly)" "" "0000965940" "00001806" "70" "1305" "3" "1305" "3" "c.1305+3A>C" "r.spl?" "p.?" "" "0000979244" "00001806" "30" "78" "-3412" "78" "-3409" "c.78-3412_78-3409dup" "r.(=)" "p.(=)" "" "0000979245" "00001806" "30" "78" "-3410" "78" "-3409" "c.78-3410_78-3409del" "r.(=)" "p.(=)" "" "0000979246" "00001806" "30" "2582" "0" "2582" "0" "c.2582A>G" "r.(?)" "p.(Asp861Gly)" "" "0000990007" "00001806" "70" "1248" "0" "1250" "0" "c.1248_1250del" "r.(?)" "p.(Glu417del)" "11" "0000998611" "00001806" "30" "77" "5" "77" "5" "c.77+5G>C" "r.spl?" "p.?" "" "0000998612" "00001806" "50" "1896" "0" "1898" "0" "c.1896_1898del" "r.(?)" "p.(Leu633del)" "" "0000998613" "00001806" "30" "2987" "0" "2987" "0" "c.2987C>G" "r.(?)" "p.(Ser996Cys)" "" "0001014694" "00001806" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Gln602*)" "" "0001030173" "00001806" "70" "2268" "-8" "2273" "0" "c.2268-8_2273delinsGTTGACTATA" "r.spl" "p.?" "17i_18" "0001038098" "00001806" "30" "574" "-43" "574" "-42" "c.574-43_574-42del" "r.(=)" "p.(=)" "" "0001038099" "00001806" "30" "1495" "-544" "1495" "-544" "c.1495-544del" "r.(=)" "p.(=)" "" "0001038100" "00001806" "30" "1703" "-195" "1703" "-195" "c.1703-195G>A" "r.(=)" "p.(=)" "" "0001058822" "00001806" "70" "56" "0" "56" "0" "c.56T>A" "r.(?)" "p.(Ile19Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 171 "{{screeningid}}" "{{variantid}}" "0000000964" "0000017941" "0000000966" "0000017942" "0000000967" "0000017943" "0000000968" "0000017944" "0000000969" "0000017945" "0000000970" "0000017946" "0000000971" "0000017947" "0000000972" "0000017948" "0000000974" "0000017950" "0000000975" "0000017951" "0000000976" "0000017952" "0000000978" "0000017954" "0000000979" "0000017955" "0000000980" "0000017956" "0000002465" "0000020748" "0000002466" "0000020749" "0000002468" "0000020750" "0000002469" "0000020751" "0000002470" "0000020752" "0000002471" "0000020753" "0000002472" "0000020754" "0000002473" "0000020755" "0000002474" "0000020756" "0000019582" "0000039999" "0000019583" "0000040000" "0000019584" "0000040002" "0000019585" "0000040003" "0000019586" "0000040004" "0000045220" "0000072878" "0000045221" "0000072879" "0000045222" "0000072880" "0000045223" "0000072881" "0000045224" "0000072882" "0000045225" "0000072883" "0000045226" "0000072884" "0000045227" "0000072885" "0000045228" "0000072886" "0000045229" "0000072888" "0000045230" "0000072889" "0000045231" "0000072890" "0000045232" "0000072891" "0000045233" "0000072892" "0000045234" "0000072893" "0000045235" "0000072894" "0000045236" "0000072895" "0000045237" "0000072896" "0000045238" "0000072897" "0000047031" "0000075695" "0000047032" "0000075696" "0000047033" "0000075697" "0000047034" "0000075698" "0000047035" "0000075699" "0000047938" "0000076688" "0000047964" "0000076731" "0000047965" "0000076732" "0000047966" "0000076733" "0000047967" "0000076734" "0000057211" "0000087502" "0000155793" "0000356873" "0000155794" "0000356874" "0000164643" "0000368215" "0000165084" "0000368700" "0000165085" "0000368701" "0000165086" "0000368702" "0000165087" "0000368703" "0000165088" "0000368704" "0000165089" "0000368705" "0000165090" "0000368706" "0000165092" "0000368708" "0000165093" "0000368709" "0000165094" "0000368710" "0000165095" "0000368711" "0000165096" "0000368712" "0000165097" "0000368713" "0000165098" "0000368714" "0000275442" "0000629447" "0000275443" "0000629448" "0000275444" "0000629449" "0000275445" "0000629450" "0000275446" "0000629452" "0000276641" "0000631006" "0000276857" "0000631251" "0000276983" "0000631252" "0000276984" "0000631492" "0000276986" "0000631733" "0000276991" "0000631738" "0000276992" "0000631739" "0000287318" "0000643106" "0000287325" "0000643112" "0000287327" "0000643114" "0000287328" "0000643115" "0000287331" "0000643117" "0000287332" "0000643119" "0000287333" "0000643120" "0000307022" "0000673559" "0000310356" "0000685267" "0000321324" "0000704153" "0000329706" "0000714063" "0000329727" "0000714084" "0000333260" "0000730684" "0000333261" "0000730685" "0000334880" "0000732887" "0000334881" "0000732888" "0000335327" "0000733336" "0000335328" "0000733337" "0000384804" "0000811596" "0000384805" "0000811597" "0000384806" "0000811598" "0000384807" "0000811599" "0000384808" "0000811600" "0000384809" "0000811601" "0000384959" "0000811798" "0000384960" "0000811799" "0000384961" "0000811800" "0000384962" "0000811801" "0000384963" "0000811802" "0000385515" "0000812591" "0000385546" "0000812626" "0000385577" "0000812666" "0000385619" "0000812713" "0000385664" "0000812765" "0000386192" "0000813595" "0000386393" "0000813888" "0000387048" "0000814901" "0000387939" "0000816097" "0000389302" "0000818247" "0000389715" "0000818936" "0000389813" "0000819072" "0000409221" "0000846336" "0000417906" "0000877650" "0000417907" "0000877651" "0000417908" "0000877652" "0000417909" "0000877653" "0000417910" "0000877654" "0000417911" "0000877655" "0000417912" "0000877656" "0000417913" "0000877657" "0000418127" "0000877870" "0000418137" "0000877885" "0000418140" "0000877890" "0000423596" "0000899342" "0000423597" "0000899343" "0000423598" "0000899344" "0000423599" "0000899345" "0000423600" "0000899346" "0000423601" "0000899347" "0000423602" "0000899348" "0000423603" "0000899349" "0000423604" "0000899350" "0000423605" "0000899351" "0000423606" "0000899352" "0000423607" "0000899353" "0000423608" "0000899354" "0000423660" "0000899406" "0000423661" "0000899407" "0000423662" "0000899408" "0000423663" "0000899409" "0000423664" "0000899410" "0000423665" "0000899411" "0000423666" "0000899412" "0000423667" "0000899413" "0000423668" "0000899414" "0000423669" "0000899415" "0000423669" "0000899418" "0000423670" "0000899416" "0000423670" "0000899419" "0000423671" "0000899417" "0000423671" "0000899420" "0000455032" "0000990007" "0000466258" "0001030173" "0000470700" "0001058822"