### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP1A3) # 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}}" "ATP1A3" "ATPase, Na+/K+ transporting, alpha 3 polypeptide" "19" "q13.2" "unknown" "NG_008015.1" "UD_134408218812" "" "https://www.LOVD.nl/ATP1A3" "" "1" "801" "478" "182350" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATP1A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2024-01-26 15:24:16" "00006" "2025-12-19 18:53:31" ## 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}}" "00003060" "ATP1A3" "transcript variant 1" "001" "NM_152296.4" "" "NP_689509.1" "" "" "" "-200" "3397" "3042" "42498428" "42470734" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "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" "01170" "AHC1" "hemiplegia, alternating, of childhood, type 1 (AHC1)" "AD" "104290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01297" "DYT12" "dystonia, type 12 (DYT-12)" "AD" "128235" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02144" "AHC" "adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism)" "XLR" "300200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03735" "AHC2" "hemiplegia, alternating, of childhood, type 2 (AHC2)" "AD" "614820" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04368" "CAPOS" "CAPOS syndrome (CAPOS)" "AD" "601338" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05417" "AHC" "hemiplegia, alternating, of childhood (AHC)" "" "" "" "" "" "00006" "2018-04-03 21:28:03" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07065" "DEE99" "encephalopathy, developmental and epileptic, type 99" "AD" "619606" "" "" "" "00006" "2024-01-26 15:23:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ATP1A3" "01297" "ATP1A3" "03735" "ATP1A3" "04368" "ATP1A3" "06906" "ATP1A3" "07065" ## Individuals ## Do not remove or alter this header ## ## Count = 179 "{{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}}" "00001573" "" "" "" "7" "" "00094" "" "" "" "" "China" "" "0" "" "" "Chinese" "" "00050531" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050676" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080942" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00155754" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "15y" "0" "" "flunarizine +" "Chinese" "A06503" "00155755" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "04y" "0" "" "flunarizine +" "Chinese" "A06603" "00155756" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "04y" "0" "" "" "Chinese" "A06703" "00155757" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "04y" "0" "" "flunarizine +" "Chinese" "A07303" "00155758" "" "" "" "1" "" "02413" "" "" "M" "" "China" "03y" "0" "" "flunarizine +" "Chinese" "A07403" "00155759" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "03y" "0" "" "" "Chinese" "A07903" "00155760" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "03y" "0" "" "" "Chinese" "A08003" "00155761" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "02y" "0" "" "" "Chinese" "A08203" "00155762" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "02y" "0" "" "" "Chinese" "A08503" "00163007" "" "" "" "1" "" "02413" "" "" "F" "" "China" "02y" "0" "" "" "Chinese" "A08603" "00163008" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "03y" "0" "" "flunarizine -" "Chinese" "A08703" "00163009" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "03y" "0" "" "flunarizine -" "Chinese" "A08903" "00163010" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "03y" "0" "" "flunarizine -" "Chinese" "A09103" "00163011" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "05y" "0" "" "" "Chinese" "A09303" "00163012" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "02y" "0" "" "" "Chinese" "A09403" "00163013" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "01y" "0" "" "" "Chinese" "A09503" "00163014" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "03y" "0" "" "" "Chinese" "A09603" "00163015" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "01y" "0" "" "" "Chinese" "A09703" "00163016" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "14y" "0" "" "" "Chinese" "A09803" "00163017" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "03y" "0" "" "flunarizine -" "Chinese" "A10003" "00163018" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "01y" "0" "" "" "Chinese" "A10103" "00163019" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A10203" "00163020" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "01y" "0" "" "" "Chinese" "A10503" "00163021" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "01y" "0" "" "" "Chinese" "A10603" "00163022" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "08y" "0" "" "" "Chinese" "A10703" "00163023" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "04y" "0" "" "" "Chinese" "A10803" "00163651" "" "" "" "1" "" "00006" "{PMID:Linazasoro 2002:12112218}, {PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163652" "" "" "" "1" "" "00006" "{PMID:Zaremba 2004:15390049}, {PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163653" "" "" "" "1" "" "00006" "{PMID:Pittock 2000:11061257}, {PMID:Brashear 2007:17282997}" "" "" "" "" "" "0" "" "" "" "?" "00163654" "" "" "" "1" "" "00006" "{PMID:Dobyns 1993:8255463}, {PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163655" "" "" "" "1" "" "00006" "{PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163656" "" "" "" "1" "" "00006" "{PMID:Brashear 1997:9109901}, {PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163657" "" "" "" "1" "" "00006" "{PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163658" "" "" "" "1" "" "00006" "{PMID:de Carvalho Aguiar 2004:15260953}" "" "" "" "" "" "0" "" "" "" "?" "00163659" "" "" "" "1" "" "00006" "{PMID:Tarsy 2010:20558373}" "" "" "" "" "" "0" "" "" "Africa Caribbean" "?" "00163660" "" "" "" "1" "" "00006" "{PMID:Kamm 2008:18413579}" "" "" "" "" "" "0" "" "" "" "?" "00163661" "" "" "" "1" "" "00006" "{PMID:Svetel 2010:19936820}" "" "" "" "" "" "0" "" "" "" "?" "00163662" "" "" "" "1" "" "00006" "{PMID:Anselm 2009:19652145}" "" "" "" "" "" "0" "" "" "" "?" "00163663" "" "" "" "1" "" "00006" "{PMID:Blanco-Arias 2009:19351654}" "" "" "" "" "" "0" "" "" "" "?" "00163664" "" "" "" "2" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163665" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-1" "00163666" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-T" "00163667" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-CX" "00163668" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-N" "00163669" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-E" "00163670" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BT" "00163671" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-CW" "00163672" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BR" "00163673" "" "" "" "26" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163674" "" "" "" "6" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163675" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BT" "00163676" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-CX" "00163677" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-D" "00163678" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-F" "00163679" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BS" "00163680" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-S" "00163681" "" "" "" "3" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163682" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-A" "00163683" "" "" "" "15" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163684" "" "" "" "3" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163685" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-G" "00163686" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-O" "00163687" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BV" "00163688" "" "" "" "5" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163689" "" "" "" "2" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-Pat" "00163690" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-BU" "00163691" "" "" "" "1" "" "00006" "{PMID:Heinzen 2012:228422324}" "" "" "" "" "" "0" "" "" "" "228422324-AL" "00163692" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A02103" "00163693" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A01903" "00163694" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03203" "00163695" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A01403" "00163696" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A02603" "00163697" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A00603" "00163698" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03603" "00163699" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A01103" "00163700" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A02003" "00163701" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A02403" "00163702" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A02203" "00163703" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A02503" "00163704" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03103" "00163705" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A04203" "00163706" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03503" "00163707" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A02803" "00163708" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03703" "00163709" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03903" "00163710" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A04603" "00163711" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A00303" "00163712" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A00403" "00163713" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A00703" "00163714" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A00503" "00163715" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A01303" "00163716" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A01503" "00163717" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A03303" "00163718" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A04003" "00163719" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A02303" "00163720" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A04103" "00163721" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A02703" "00163722" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A00103" "00163723" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A00203" "00163724" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A01603" "00163725" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A03003" "00163726" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A02903" "00163727" "" "" "" "1" "" "00093" "{PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A01203" "00163728" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A05003" "00163729" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A06403" "00163730" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A04803" "00163731" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A06103" "00163732" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A05603" "00163733" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A05604" "00163734" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A06203" "00163735" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A05403" "00163736" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A06003" "00163737" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A06303" "00163738" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A05903" "00163739" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A05203" "00163740" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "F" "no" "China" "" "0" "" "" "Han" "A05303" "00163741" "" "" "" "1" "" "00093" "{PMID:Bourgeois 1993:8496742}, {PMID:Yang 2014:24842602}" "" "M" "no" "China" "" "0" "" "" "Han" "A05503" "00163742" "" "" "" "1" "" "02441" "" "" "F" "no" "Israel" "" "0" "" "" "Jewish" "VH32144974" "00163984" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A11603" "00163999" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "" "0" "" "flunarizine +" "Chinese" "A11103" "00164000" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "" "0" "" "VPA/LEV/TPM" "Chinese" "A11203" "00164001" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "" "0" "" "flunarizine +" "Chinese" "A11303" "00164002" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "" "0" "" "" "Chinese" "A10303" "00164003" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A11503" "00164004" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A11603" "00164005" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A11703" "00164006" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A11803" "00164007" "" "" "" "1" "" "02413" "" "" "F" "yes" "China" "" "0" "" "" "Chinese" "A12003" "00164008" "" "" "" "1" "" "02413" "" "" "M" "yes" "China" "" "0" "" "" "Chinese" "A12303" "00180154" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat06" "00219177" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00222899" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00239792" "" "" "" "1" "" "03320" "" "" "M" "no" "Thailand" "" "0" "" "Flunarizine" "Asian" "" "00239793" "" "" "" "1" "" "03320" "" "" "F" "?" "Thailand" "21y" "0" "" "" "Asian" "" "00292141" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302966" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat11" "00302967" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat12" "00309663" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00327030" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH222-518" "00358945" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "Italy" "" "0" "" "" "" "" "00359272" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "Italy" "" "0" "" "" "" "" "00359340" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00359343" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "Italy" "" "" "" "" "" "" "00359350" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00359352" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00359354" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00359355" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00359357" "" "" "" "1" "" "04023" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "" "" "" "" "" "" "" "00362265" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00374215" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-4319" "00374216" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-590" "00374217" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4078" "00374218" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2402" "00374219" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2223" "00374220" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2993" "00387726" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M204" "00419460" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20005" "00426111" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "11MS3200" "00427998" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A091" "00438656" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0410" "00447730" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "282361" "00468675" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468676" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468677" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468678" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468679" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468680" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468681" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468682" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470629" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "354113" "00471271" "" "" "" "1" "" "00006" "{PMID:Zech 2017:28849312}, {PMID:Zech 2020:33098801}" "patient" "" "" "" "" "0" "" "" "" "CB-DYS-017" "00471286" "" "" "" "1" "" "00006" "{PMID:Zech 2017:28849312}, {PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "IS-DYS-430" "00471287" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "patient" "" "" "" "" "0" "" "" "" "IS-DYS-456" "00471319" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-134" "00471320" "" "" "" "1" "" "00006" "{PMID:Zech 2020:33098801}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "CB-DYS-152" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 179 "{{individualid}}" "{{diseaseid}}" "00001573" "05417" "00050531" "00198" "00050676" "00198" "00080942" "04368" "00155754" "01170" "00155755" "01170" "00155756" "05417" "00155757" "01170" "00155758" "01170" "00155759" "01170" "00155760" "01170" "00155761" "01170" "00155762" "01170" "00163007" "01170" "00163008" "01170" "00163009" "01170" "00163010" "01170" "00163011" "01170" "00163012" "01170" "00163013" "01170" "00163014" "01170" "00163015" "01170" "00163016" "03735" "00163017" "01170" "00163018" "01170" "00163019" "02144" "00163020" "01170" "00163021" "01170" "00163022" "01170" "00163023" "01170" "00163651" "00108" "00163652" "00108" "00163653" "00108" "00163654" "00108" "00163655" "00108" "00163656" "00108" "00163657" "00108" "00163658" "00108" "00163659" "00108" "00163660" "00108" "00163661" "00108" "00163662" "00108" "00163663" "00108" "00163664" "05417" "00163665" "05417" "00163666" "05417" "00163667" "05417" "00163668" "05417" "00163669" "05417" "00163670" "05417" "00163671" "05417" "00163672" "05417" "00163673" "05417" "00163674" "05417" "00163675" "05417" "00163676" "05417" "00163677" "05417" "00163678" "05417" "00163679" "05417" "00163680" "05417" "00163681" "05417" "00163682" "05417" "00163683" "05417" "00163684" "05417" "00163685" "05417" "00163686" "05417" "00163687" "05417" "00163688" "05417" "00163689" "05417" "00163690" "05417" "00163691" "05417" "00163692" "05417" "00163693" "05417" "00163694" "05417" "00163695" "05417" "00163696" "05417" "00163697" "05417" "00163698" "05417" "00163699" "05417" "00163700" "05417" "00163701" "05417" "00163702" "05417" "00163703" "05417" "00163704" "05417" "00163705" "05417" "00163706" "05417" "00163707" "05417" "00163708" "05417" "00163709" "05417" "00163710" "05417" "00163711" "05417" "00163712" "05417" "00163713" "05417" "00163714" "05417" "00163715" "05417" "00163716" "05417" "00163717" "05417" "00163718" "05417" "00163719" "05417" "00163720" "05417" "00163721" "05417" "00163722" "05417" "00163723" "05417" "00163724" "05417" "00163725" "05417" "00163726" "05417" "00163727" "05417" "00163728" "05417" "00163729" "05417" "00163730" "05417" "00163731" "05417" "00163732" "05417" "00163733" "05417" "00163734" "05417" "00163735" "05417" "00163736" "05417" "00163737" "05417" "00163738" "05417" "00163739" "05417" "00163740" "05417" "00163741" "05417" "00163742" "00198" "00163984" "05417" "00163999" "05417" "00164000" "05417" "00164001" "05417" "00164002" "05417" "00164003" "05417" "00164004" "05417" "00164005" "05417" "00164006" "05417" "00164007" "05417" "00164008" "05417" "00180154" "00198" "00219177" "00198" "00222899" "00198" "00239792" "05417" "00239793" "05417" "00292141" "00198" "00302966" "05521" "00302967" "05521" "00309663" "00198" "00327030" "05086" "00358945" "05417" "00359272" "05417" "00359340" "05417" "00359343" "05417" "00359350" "05417" "00359352" "05417" "00359354" "05417" "00359355" "05417" "00359357" "05417" "00362265" "00198" "00374215" "00198" "00374216" "00198" "00374217" "00198" "00374218" "00198" "00374219" "00198" "00374220" "00198" "00387726" "00139" "00419460" "00198" "00426111" "00139" "00427998" "00198" "00438656" "06906" "00447730" "06906" "00468675" "00198" "00468676" "00198" "00468677" "00198" "00468678" "00198" "00468679" "00198" "00468680" "00198" "00468681" "00198" "00468682" "00198" "00470629" "07065" "00471271" "00108" "00471286" "00108" "00471287" "00108" "00471319" "00108" "00471320" "00108" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 01170, 01297, 02144, 03735, 04368, 05086, 05417, 05521, 06906, 07065 ## Count = 176 "{{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}}" "0000037143" "00198" "00050531" "00006" "Unknown" "" "choreoathetosis, dystonia, abnormality of hair texture, abnormality of hair pigmentation, pectus excavatum, functional respiratory abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000037288" "00198" "00050676" "00006" "Isolated (sporadic)" "" "specific learning disability, progressive cerebellar ataxia, aplasia/hypoplasia of the cerebellum, abnormal joint morphology, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000060511" "04368" "00080942" "01758" "Isolated (sporadic)" "" "CAPOS syndrome (OMIM:601338)" "" "" "" "" "" "" "" "" "" "" "" "0000128134" "01170" "00155754" "02413" "Familial" "15y" "The patient had the first hemiplegia at 3 months of age. He had abnormal eye movement, dystonia, quadrplegia and seizure. The hemiplegia duration ranges from several hours to six days. On average he has four hemiplegia per month." "00y03m" "15y" "" "" "" "" "" "" "AHC-1" "AHC-1" "" "0000128135" "01170" "00155755" "02413" "Familial, autosomal dominant" "04y" "The patient had the first symptom on set at the age of 5.5m, his first hemiplegia starts at the age of 8m, the duration rangers from 1 to 2 days, he has abnormal eye movemetn and dystonia." "00y05m" "04y" "" "" "" "" "" "" "AHC-1" "AHC-1" "" "0000128787" "00108" "00163651" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128788" "00108" "00163652" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128789" "00108" "00163653" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128790" "00108" "00163654" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128791" "00108" "00163655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128792" "00108" "00163656" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128793" "00108" "00163657" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128794" "00108" "00163658" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128795" "00108" "00163659" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128796" "00108" "00163660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128797" "00108" "00163661" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128798" "00108" "00163662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128799" "00108" "00163663" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DYT-12" "dystonia (DYT)" "" "0000128800" "05417" "00163664" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128801" "05417" "00163665" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128802" "05417" "00163666" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128803" "05417" "00163667" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128804" "05417" "00163668" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128805" "05417" "00163669" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128806" "05417" "00163670" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128807" "05417" "00163671" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128808" "05417" "00163672" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128809" "05417" "00163673" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128810" "05417" "00163674" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128811" "05417" "00163675" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128812" "05417" "00163676" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128813" "05417" "00163677" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128814" "05417" "00163678" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128815" "05417" "00163679" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128816" "05417" "00163680" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128817" "05417" "00163681" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128818" "05417" "00163682" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128819" "05417" "00163683" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128820" "05417" "00163684" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128821" "05417" "00163685" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128822" "05417" "00163686" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128823" "05417" "00163687" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128824" "05417" "00163688" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128825" "05417" "00163689" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128826" "05417" "00163690" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128827" "05417" "00163691" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128828" "05417" "00163692" "00093" "Isolated (sporadic)" "" "" "2m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128829" "05417" "00163693" "00093" "Isolated (sporadic)" "" "" "12m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128830" "05417" "00163694" "00093" "Isolated (sporadic)" "" "" "3m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128831" "05417" "00163695" "00093" "Unknown" "" "" "3y6m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128832" "05417" "00163696" "00093" "Isolated (sporadic)" "" "" "1m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128833" "05417" "00163697" "00093" "Isolated (sporadic)" "" "" "10m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128834" "05417" "00163698" "00093" "Isolated (sporadic)" "" "" "4m" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128835" "05417" "00163699" "00093" "Isolated (sporadic)" "" "" "5m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128836" "05417" "00163700" "00093" "Isolated (sporadic)" "" "" "1m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128837" "05417" "00163701" "00093" "Isolated (sporadic)" "" "" "2m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128838" "05417" "00163702" "00093" "Isolated (sporadic)" "" "" "4m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128839" "05417" "00163703" "00093" "Isolated (sporadic)" "" "" "7m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128840" "05417" "00163704" "00093" "Isolated (sporadic)" "" "" "4m" "" "quadriplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128841" "05417" "00163705" "00093" "Isolated (sporadic)" "" "" "10m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128842" "05417" "00163706" "00093" "Isolated (sporadic)" "" "" "2m15d" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128843" "05417" "00163707" "00093" "Isolated (sporadic)" "" "" "2m" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128844" "05417" "00163708" "00093" "Isolated (sporadic)" "" "" "2m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128845" "05417" "00163709" "00093" "Isolated (sporadic)" "" "" "3m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128846" "05417" "00163710" "00093" "Isolated (sporadic)" "" "" "3m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128847" "05417" "00163711" "00093" "Isolated (sporadic)" "" "" "3m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128848" "05417" "00163712" "00093" "Isolated (sporadic)" "" "" "1m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128849" "05417" "00163713" "00093" "Isolated (sporadic)" "" "" "6m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128850" "05417" "00163714" "00093" "Isolated (sporadic)" "" "" "0d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128851" "05417" "00163715" "00093" "Isolated (sporadic)" "" "" "1m" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128852" "05417" "00163716" "00093" "Isolated (sporadic)" "" "" "4m" "" "seizure" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128853" "05417" "00163717" "00093" "Isolated (sporadic)" "" "" "1m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128854" "05417" "00163718" "00093" "Isolated (sporadic)" "" "" "1m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128855" "05417" "00163719" "00093" "Isolated (sporadic)" "" "" "1m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128856" "05417" "00163720" "00093" "Isolated (sporadic)" "" "" "2y6m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128857" "05417" "00163721" "00093" "Isolated (sporadic)" "" "" "2m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128858" "05417" "00163722" "00093" "Isolated (sporadic)" "" "" "0m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128859" "05417" "00163723" "00093" "Isolated (sporadic)" "" "" "4m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128860" "05417" "00163724" "00093" "Isolated (sporadic)" "" "" "12m" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128861" "05417" "00163725" "00093" "Isolated (sporadic)" "" "" "1m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128862" "05417" "00163726" "00093" "Familial, autosomal dominant" "" "" "5m" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128863" "05417" "00163727" "00093" "Isolated (sporadic)" "" "" "2y6m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128864" "05417" "00163728" "00093" "Isolated (sporadic)" "" "" "2m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128865" "05417" "00163729" "00093" "Isolated (sporadic)" "" "" "1m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128866" "05417" "00163730" "00093" "Isolated (sporadic)" "" "" "3m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128867" "05417" "00163731" "00093" "Isolated (sporadic)" "" "" "1m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128868" "05417" "00163732" "00093" "Isolated (sporadic)" "" "" "1y2m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128869" "05417" "00163733" "00093" "Isolated (sporadic)" "" "" "8m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128870" "05417" "00163734" "00093" "Isolated (sporadic)" "" "" "2m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128871" "05417" "00163735" "00093" "Isolated (sporadic)" "" "" "4m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128872" "05417" "00163736" "00093" "Isolated (sporadic)" "" "" "9m" "" "seizure" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128873" "05417" "00163737" "00093" "Isolated (sporadic)" "" "" "2m" "" "dystonia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128874" "05417" "00163738" "00093" "Isolated (sporadic)" "" "" "8m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128875" "05417" "00163739" "00093" "Isolated (sporadic)" "" "" "2y" "" "hemiplegia" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128876" "05417" "00163740" "00093" "Isolated (sporadic)" "" "" "4m15d" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128877" "05417" "00163741" "00093" "Isolated (sporadic)" "" "" "7m" "" "abnormal eye movement" "" "" "" "" "" "AHC-2" "alternating hemiplegia of childhood (AHC)" "" "0000128878" "00198" "00163742" "02441" "Familial, autosomal dominant" "" "febrile triggered episodic attacks of weakness and cerebellar ataxia with permanent areflexia and progressive deafness and optic atrophy" "4y" "34y" "" "" "" "" "" "" "" "episodic weakness, cerebellar ataxia, areflexia, deafness, optic atrophy" "" "0000129966" "01170" "00155756" "02413" "Familial, autosomal dominant" "00y08m" "Abnormal eye movement, dystonia, automatic dysfunction, development delay." "00y06m" "00y08m" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129967" "01170" "00155757" "02413" "Familial, autosomal dominant" "03y" "Abnormal eye movement, quadriplegia, dystonia, ataxia, epilepsy, and developmental delay" "01y" "03y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129968" "01170" "00155758" "02413" "Familial, autosomal dominant" "03y" "Abnormal eye movement, quadriplegia, respiritary disturbance, and developmental delay" "00y03m" "03y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129969" "01170" "00155759" "02413" "Familial, autosomal dominant" "03y" "Abnormal eye movement, quadriplegia, dystonia, epilepsy, dysarthria, and developmental delay" "00y04m" "03y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129970" "01170" "00155760" "02413" "Familial, autosomal dominant" "03y" "Abnormal eye movement, quadriplegia, dystonia, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay." "00y03m" "03y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129971" "01170" "00155761" "02413" "Familial, autosomal dominant" "03y" "Dystonia, hemiplegia" "00y03m" "03y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129972" "01170" "00155762" "02413" "Familial, autosomal dominant" "03y" "Abnormal eye movement, dystonia, slight developmental delay" "00y05m" "03y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129973" "01170" "00163007" "02413" "Familial, autosomal dominant" "02y" "Abnormal eye movement, dystonia, automatic dysfunction, and slight developmental delay" "00y05m" "02y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129974" "01170" "00163008" "02413" "Familial, autosomal dominant" "08y" "Dystonia, Abnormal eye movement, quadriplegia, automatic dysfunction, dysphagia, dysarthria, and developmental delay" "00y03m" "08y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129975" "01170" "00163009" "02413" "Familial, autosomal dominant" "02y" "Dystonia, Abnormal eye movement, and slight developmental delay" "00y02m" "02y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129976" "01170" "00163010" "02413" "Familial, autosomal dominant" "03y" "dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and developmental delay." "00y01m" "03y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129977" "01170" "00163011" "02413" "Familial, autosomal dominant" "04y" "Abnormal eye movement, Dystonia, quadriplegia, automatic dysfunction, dysphagia, dysarthria, ataxia, and developmental delay." "00y01m" "04y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129978" "01170" "00163012" "02413" "Familial, autosomal dominant" "02y" "Abnormal eye movement, dystonia, epilepsy, and developmental delay." "00y02m" "02y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129979" "01170" "00163013" "02413" "Familial, autosomal dominant" "01y" "Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay" "00y02m" "01y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129980" "01170" "00163014" "02413" "Familial, autosomal dominant" "03y" "Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay" "00y00m" "03y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129981" "01170" "00163015" "02413" "Familial, autosomal dominant" "01y" "Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, respiritary disturbance, and slight developmental delay" "00y01m" "01y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129982" "03735" "00163016" "02413" "Familial, autosomal dominant" "15y" "Abnormal eye movement, quadriplegia, dysphagia, and slight developmental delay" "00y01m" "15y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129983" "01170" "00163017" "02413" "Familial, autosomal dominant" "02y" "Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay" "00y02m" "02y" "dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129984" "01170" "00163018" "02413" "Familial, autosomal dominant" "01y" "Abnormal eye movement, quadrplegia, epilepsy, and slight developmental delay." "00y01m" "01y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129985" "02144" "00163019" "02413" "Familial, autosomal dominant" "10y" "Abnormal eye movement, quadriplegia, dystonia, dysphagia, dysarthria, choreoathetosis, and severe developmental delay" "00y01m" "10y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129986" "01170" "00163020" "02413" "Familial, autosomal dominant" "01y" "Dystonia, Abnormal eye movement, respiritary disturbance, and slight developmental delay." "00y03m" "01y" "Dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000129987" "01170" "00163021" "02413" "Familial, autosomal dominant" "02y" "Epilepsy, Abnormal eye movement, Dystonia, automatic dysfunction, and slight developmental delay." "00y01m" "02y" "seizure" "" "" "" "" "" "AHC" "AHC" "" "0000129988" "01170" "00163022" "02413" "Familial, autosomal dominant" "07y" "Abnormal eye movement, quadriplegia, Dystonia, Dysphagia, Dysarthria, and slight developmental delay." "00y01m" "07y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000129989" "01170" "00163023" "02413" "Familial, autosomal dominant" "03y" "Dystonia, quadriplegia, and slight developmental delay." "00y08m" "03y" "Dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000130094" "05417" "00163984" "02413" "Familial, autosomal dominant" "02y" "Abnormal eye movement, dystonia, can not walk by himself (4y)" "00y03m" "02y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000130095" "05417" "00163999" "02413" "Familial, autosomal dominant" "02y" "Abnormal eye movement, dystonia, automatic dysfunction, dysphagia, slight development delay" "00y03m" "02y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000130096" "05417" "00164000" "02413" "Familial, autosomal dominant" "06y" "Epileptic seizure, automatic dysfunction, dysarthria, respiritary disturbance, ataxia, and slight developmental delay" "00y02m" "06y" "Epileptic seizure" "" "" "" "" "" "AHC" "AHC" "" "0000130097" "05417" "00164001" "02413" "Familial, autosomal dominant" "03y" "hemiplegia start at 11m, 7-8 times/m, Epileptic seizure (GTCS), quadriplegia, abnormal eye movement, dystonia, developmental delay" "00y05m" "03y" "Epileptic seizure" "" "" "" "" "" "AHC" "AHC" "" "0000130098" "05417" "00164002" "02413" "Familial, autosomal dominant" "08y" "Hemiplegia start at 10m, 2 time/m, abnormal eye movement, dystonia, slight developmental delay (language delay)" "00y10m" "08y" "Hemiplegia" "" "" "" "" "" "AHC" "AHC" "" "0000130099" "05417" "00164003" "02413" "Familial, autosomal dominant" "02y" "Hemiplegia start at 8m, 2 times/m, dystonia, quadriplegia, abnormal eye movement, dysarthria, ataxia, choreography, slight developmental delay (language delay)" "00y02m" "02y" "Dystonia" "" "" "" "" "" "AHC" "AHC" "" "0000130100" "05417" "00164004" "02413" "Familial, autosomal dominant" "04y" "Abnormal eye movement, dystonia, developmental delay (can not walk by himself at 4y)" "00y03m" "04y" "Abnormal eye movement" "" "" "" "" "" "AHC" "AHC" "" "0000130101" "05417" "00164005" "02413" "Familial, autosomal dominant" "09y" "Hemiplegia first onset at 18m, 3-5 times/m, dysarthria, language delay" "00y18m" "09y" "Hemiplegia" "" "" "" "" "" "AHC" "AHC" "" "0000130102" "05417" "00164006" "02413" "Familial, autosomal dominant" "17y" "Hemiplegia first onset at 1m, quadriplegia, dystonia, epileptic seizure, dysphagia, dysarthria, ataxia, developmental delay, language delay" "00y01m" "17y" "Hemiplegia" "" "" "" "" "" "AHC" "AHC" "" "0000130103" "05417" "00164007" "02413" "Familial, autosomal dominant" "02y" "Hemiplegia first onset at 7m, 2-3 times/m, dystonia, epileptic seizure, automatic dysfunction, dysphagia, respiritary disturbance, slight developmental delay, language delay" "00y07m" "02y" "Dystonia and hemiplegia" "" "" "" "" "" "AHC" "AHC" "" "0000130104" "05417" "00164008" "02413" "Familial, autosomal dominant" "03y" "Hemiplegia first onset 5m, 2 times/m, dystonia, quadriplegia, epileptic seizure, dysphagia, slight developmental delay, language delay" "00y05m" "03y" "Dystonia and hemiplegia" "" "" "" "" "" "AHC" "AHC" "" "0000142608" "00198" "00180154" "00006" "Familial, autosomal dominant" "" "(Pharmacoresistant) epilepsy (HP:0001250), multifocal seizures (HP:0030651), severe global developmental delay (HP:0011344), ventriculomegaly (HP:0002119), epicanthus (HP:0000286), depressed nasal bridge (HP:0005280)." "" "" "" "" "" "" "" "" "AHC-2" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000167725" "00198" "00219177" "01807" "Unknown" "" "HP:0001332 (Dystonia)" "" "" "" "" "" "" "" "" "" "" "" "0000168022" "00198" "00222899" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" "0000180001" "05417" "00239792" "03320" "Isolated (sporadic)" "16y" "Nystagmus (HP:0000639)\r\nGlobal developmental delay (HP:0001263)\r\nEpilepsy (HP:0001250)\r\nStatus epilepticus (HP:0002133)\r\nEpisodic quadriplegia (HP:0200072)\r\nEpisodic hemiplegia (HP:0012194)" "00y08m" "" "Nystagmus HP:0000639" "" "" "" "" "" "Alternating hemiplegia of childhood" "Epilepsy" "" "0000180002" "05417" "00239793" "03320" "Unknown" "" "Dystonia HP:0001332" "" "" "" "" "" "" "" "" "Alternating hemiplegia of childhood" "Hemidystonia" "" "0000230049" "05521" "00302966" "00006" "Unknown" "" "Fever related seizures; age onset childhood" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230050" "05521" "00302967" "00006" "Isolated (sporadic)" "" "Generalized epilepsy, unclassified; age onset neonatal" "" "" "" "" "" "" "" "" "" "seizures" "" "0000234982" "00198" "00309663" "01164" "Unknown" "" "Choreoathetosis (HP:0001266); Abnormality of movement (HP:0100022)" "" "" "" "" "" "" "" "" "" "" "" "0000254243" "05417" "00358945" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Intellectual disability, moderate (HP:0002342); no Seizure (-HP:0001250); no Dystonia (-HP:0001332); no Myoclonus (-HP:0001336)" "00y00m" "" "0m" "" "" "" "" "" "AHC" "" "" "0000254733" "05417" "00359355" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250); Dystonia (HP:0001332); Intellectual disability, severe (HP:0010864)" "" "" "" "" "" "" "" "" "" "" "" "0000254734" "05417" "00359340" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Chorea (HP:0002072); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000254735" "05417" "00359343" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "0000254736" "05417" "00359350" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Seizure (HP:0001250); Dystonia (HP:0001332); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000254737" "05417" "00359352" "04023" "Isolated (sporadic)" "" "Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Seizure (HP:0001250); Intellectual disability, moderate (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000254738" "05417" "00359354" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Seizure (HP:0001250); Intellectual disability (HP:0001249);" "" "" "" "" "" "" "" "" "" "" "" "0000254739" "05417" "00359357" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000254740" "05417" "00359272" "04023" "Isolated (sporadic)" "" "Episodic hemiplegia (HP:0012194); Episodic quadriplegia (HP:0200072); Abnormality of eye movement (HP:0000496); Dystonia (HP:0001332); Myoclonus (HP:0001336); Seizure (HP:0001250); Intellectual disability, severe (HP:0010864)" "" "" "" "" "" "" "" "" "" "" "" "0000257676" "00198" "00362265" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Seizure (HP:0001250); Dysarthria (HP:0001260); Global developmental delay (HP:0001263); Dystonia (HP:0001332); Gait ataxia (HP:0002066); Bilateral tonic-clonic seizure (HP:0002069); Generalized dystonia (HP:0007325); Neurodevelopmental abnormality (HP:0012759); Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000269425" "00198" "00374215" "00006" "Familial, autosomal dominant" "" "Hypotonia, significant speech and motor delay suggestive of AHC" "" "" "" "" "" "" "" "" "" "alternating hemiplegia of childhood" "" "0000269426" "00198" "00374216" "00006" "Familial, autosomal dominant" "" "Refractory left focal seizures and global developmental delay" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269427" "00198" "00374217" "00006" "Familial, autosomal dominant" "" "Seizures, postictal hemiparesis, developmental delay and transient weakness of the upper limb." "" "" "" "" "" "" "" "" "" "alternating hemiplegia of childhood" "" "0000269428" "00198" "00374218" "00006" "Familial, autosomal dominant" "" "Ataxia, epilepsy, alternating episodes of hemiplegia and cognitive impairment." "" "" "" "" "" "" "" "" "" "alternating hemiplegia of childhood" "" "0000269429" "00198" "00374219" "00006" "Familial, autosomal dominant" "" "Features suggestive of AHC" "" "" "" "" "" "" "" "" "" "alternating hemiplegia of childhood" "" "0000269430" "00198" "00374220" "00006" "Familial, autosomal dominant" "" "Encephalopathy, global developmental delay, hypertonia, delayed speech, cerebral palsy, lethargy, round facies and seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000281294" "00139" "00387726" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-2.5), epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310741" "00198" "00419460" "02300" "Isolated (sporadic)" "4y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000317261" "00139" "00426111" "00006" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "DEE99" "intellectual disability" "" "0000318944" "00198" "00427998" "00006" "Familial, autosomal dominant" "46y" "" "" "" "" "" "" "" "" "" "Dystonia 12" "" "" "0000328559" "06906" "00438656" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000336929" "06906" "00447730" "01164" "Isolated (sporadic)" "06y" "Absent speech, Neurodevelopmental delay, Cerebral palsy, Hypoglycemia, Abnormality of coordination, Abnormality of movement" "" "" "" "" "" "" "" "" "DEE99" "developmental and epilepticencephalopathy" "" "0000353828" "00198" "00468675" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353829" "00198" "00468676" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353830" "00198" "00468677" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353831" "00198" "00468678" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000353832" "00198" "00468679" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353833" "00198" "00468680" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353834" "00198" "00468681" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000353835" "00198" "00468682" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000355524" "07065" "00470629" "01164" "Unknown" "08y" "Febrile seizure (within the age range of 3 months to 6 years), Febrile seizure outside the age of 3 months to 6 years" "00y09m" "" "" "" "" "" "" "" "" "" "" "0000356108" "00108" "00471271" "00006" "Unknown" "" "combined dystonia; onset childhood (3-12y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "DYT12" "dystonia" "" "0000356123" "00108" "00471286" "00006" "Isolated (sporadic)" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); generalized dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "DYT12" "dystonia" "" "0000356124" "00108" "00471287" "00006" "Unknown" "" "isolated dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); segmental dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "DYT12" "dystonia" "" "0000356156" "00108" "00471319" "00006" "Isolated (sporadic)" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset infancy (0-2y); focal dystonia; no dystonic cerebral palsy" "" "" "" "" "" "" "" "" "DYT12" "dystonia" "" "0000356157" "00108" "00471320" "00006" "Isolated (sporadic)" "" "combined dystonia, coexisting non-movement disorder-related neurological symptoms; onset childhood (3-12y); generalized dystonia; dystonic cerebral palsy" "" "" "" "" "" "" "" "" "DYT12" "dystonia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 179 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001372" "00001573" "1" "00094" "00094" "2013-07-04 15:34:12" "" "" "SEQ" "DNA" "" "" "0000050476" "00050531" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050621" "00050676" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081054" "00080942" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156619" "00155754" "1" "02413" "02413" "2018-03-31 10:06:00" "" "" "SEQ-NG-IT" "DNA" "blood" "TaqMan, Targeted resequencing, Sanger sequencing" "0000156620" "00155755" "1" "02413" "02413" "2018-03-31 11:37:42" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156621" "00155756" "1" "02413" "02413" "2018-03-31 11:49:36" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156622" "00155757" "1" "02413" "02413" "2018-03-31 12:00:28" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156623" "00155758" "1" "02413" "02413" "2018-03-31 13:10:09" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156624" "00155759" "1" "02413" "02413" "2018-03-31 13:20:00" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156625" "00155760" "1" "02413" "02413" "2018-03-31 13:33:18" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156626" "00155761" "1" "02413" "02413" "2018-03-31 14:45:22" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000156627" "00155762" "1" "02413" "02413" "2018-03-31 16:34:14" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163872" "00163007" "1" "02413" "02413" "2018-03-31 18:21:01" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000163873" "00163008" "1" "02413" "02413" "2018-03-31 18:33:02" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163874" "00163009" "1" "02413" "02413" "2018-03-31 18:46:23" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163875" "00163010" "1" "02413" "02413" "2018-03-31 19:10:32" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163876" "00163011" "1" "02413" "02413" "2018-03-31 19:19:49" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163877" "00163012" "1" "02413" "02413" "2018-03-31 19:34:39" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163878" "00163013" "1" "02413" "02413" "2018-03-31 19:44:22" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163879" "00163014" "1" "02413" "02413" "2018-03-31 19:51:19" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163880" "00163015" "1" "02413" "02413" "2018-03-31 20:05:30" "" "" "MLPA-ms;SEQ;TaqMan" "DNA" "blood" "" "0000163881" "00163016" "1" "02413" "02413" "2018-03-31 20:26:13" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163882" "00163017" "1" "02413" "02413" "2018-03-31 20:40:55" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163883" "00163018" "1" "02413" "02413" "2018-03-31 20:52:12" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163884" "00163019" "1" "02413" "02413" "2018-03-31 21:07:16" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163885" "00163020" "1" "02413" "02413" "2018-03-31 21:14:42" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163886" "00163021" "1" "02413" "02413" "2018-03-31 21:22:02" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163887" "00163022" "1" "02413" "02413" "2018-03-31 21:35:16" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000163888" "00163023" "1" "02413" "02413" "2018-03-31 21:47:54" "" "" "MLPA;SEQ;TaqMan" "DNA" "blood" "" "0000164516" "00163651" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164517" "00163652" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164518" "00163653" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164519" "00163654" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164520" "00163655" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164521" "00163656" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164522" "00163657" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164523" "00163658" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164524" "00163659" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164525" "00163660" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164526" "00163661" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164527" "00163662" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164528" "00163663" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164529" "00163664" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164530" "00163665" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164531" "00163666" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164532" "00163667" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164533" "00163668" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164534" "00163669" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164535" "00163670" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164536" "00163671" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164537" "00163672" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164538" "00163673" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164539" "00163674" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164540" "00163675" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164541" "00163676" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164542" "00163677" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164543" "00163678" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164544" "00163679" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164545" "00163680" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164546" "00163681" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164547" "00163682" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164548" "00163683" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164549" "00163684" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164550" "00163685" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;SEQ" "DNA" "" "" "0000164551" "00163686" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164552" "00163687" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164553" "00163688" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164554" "00163689" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164555" "00163690" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164556" "00163691" "1" "00006" "00006" "2013-07-08 11:34:48" "" "" "SEQ" "DNA" "" "" "0000164557" "00163692" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164558" "00163693" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164559" "00163694" "1" "00093" "00093" "2013-07-08 11:34:48" "00006" "2014-01-17 16:36:58" "PCR;SEQ" "DNA" "" "" "0000164560" "00163695" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164561" "00163696" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164562" "00163697" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164563" "00163698" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164564" "00163699" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164565" "00163700" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164566" "00163701" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164567" "00163702" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164568" "00163703" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164569" "00163704" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164570" "00163705" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164571" "00163706" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164572" "00163707" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164573" "00163708" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164574" "00163709" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164575" "00163710" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164576" "00163711" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164577" "00163712" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164578" "00163713" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164579" "00163714" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164580" "00163715" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164581" "00163716" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164582" "00163717" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164583" "00163718" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164584" "00163719" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164585" "00163720" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164586" "00163721" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" "" "0000164587" "00163722" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164588" "00163723" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164589" "00163724" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164590" "00163725" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164591" "00163726" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164592" "00163727" "1" "00093" "00093" "2013-07-08 11:34:48" "" "" "PCR;SEQ" "DNA" "" "" "0000164593" "00163728" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164594" "00163729" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164595" "00163730" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164596" "00163731" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164597" "00163732" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164598" "00163733" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164599" "00163734" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164600" "00163735" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164601" "00163736" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164602" "00163737" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164603" "00163738" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164604" "00163739" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164605" "00163740" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164606" "00163741" "1" "00093" "00093" "2014-01-17 16:52:34" "" "" "PCR;SEQ" "DNA" "" "" "0000164607" "00163742" "1" "02441" "02441" "2014-04-13 16:25:53" "00006" "2014-04-15 12:00:05" "PCR;SEQ;SEQ-NG-I" "DNA" "" "" "0000164849" "00163984" "1" "02413" "02413" "2018-05-01 11:29:48" "" "" "SEQ" "DNA" "blood" "" "0000164865" "00163999" "1" "02413" "02413" "2018-05-06 19:53:52" "" "" "SEQ;TaqMan" "DNA" "blood" "" "0000164866" "00164000" "1" "02413" "02413" "2018-05-06 20:09:34" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000164867" "00164001" "1" "02413" "02413" "2018-05-06 20:15:18" "" "" "SEQ;SEQ-NG-IT;TaqMan" "DNA" "blood" "" "0000164868" "00164002" "1" "02413" "02413" "2018-05-06 20:21:39" "" "" "SEQ" "DNA" "blood" "" "0000164869" "00164003" "1" "02413" "02413" "2018-05-06 20:31:11" "" "" "SEQ" "DNA" "blood" "" "0000164870" "00164004" "1" "02413" "02413" "2018-05-06 20:54:08" "" "" "SEQ" "DNA" "blood" "" "0000164871" "00164005" "1" "02413" "02413" "2018-05-06 21:02:36" "" "" "SEQ" "DNA" "blood" "" "0000164872" "00164006" "1" "02413" "02413" "2018-05-06 21:05:44" "" "" "SEQ" "DNA" "" "" "0000164873" "00164007" "1" "02413" "02413" "2018-05-06 21:08:29" "" "" "SEQ" "DNA" "blood" "" "0000164874" "00164008" "1" "02413" "02413" "2018-05-06 21:12:09" "" "" "SEQ" "DNA" "blood" "" "0000181057" "00180154" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000220250" "00219177" "1" "01807" "01807" "2019-02-07 14:50:11" "" "" "SEQ" "DNA" "" "" "0000223974" "00222899" "1" "01807" "01807" "2019-02-13 10:41:21" "" "" "SEQ" "DNA" "" "" "0000240895" "00239792" "1" "03320" "03320" "2019-06-10 08:48:05" "" "" "SEQ-NG" "DNA" "" "" "0000240896" "00239793" "1" "03320" "03320" "2019-06-10 09:48:19" "" "" "SEQ-NG" "DNA" "" "" "0000293309" "00292141" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304091" "00302966" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304092" "00302967" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000310808" "00309663" "1" "01164" "01164" "2020-08-31 11:16:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000328244" "00327030" "1" "03611" "03611" "2021-01-19 04:13:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000360510" "00358945" "1" "04023" "04023" "2021-03-18 18:31:26" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360512" "00359272" "1" "04023" "04023" "2021-03-18 19:45:36" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360582" "00359340" "1" "04023" "04023" "2021-03-19 16:59:16" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360585" "00359343" "1" "04023" "04023" "2021-03-19 17:07:35" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360592" "00359350" "1" "04023" "04023" "2021-03-19 17:38:39" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360594" "00359352" "1" "04023" "04023" "2021-03-19 17:41:56" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360596" "00359354" "1" "04023" "04023" "2021-03-19 17:45:21" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360597" "00359355" "1" "04023" "04023" "2021-03-19 17:50:13" "00006" "2021-03-22 11:07:11" "SEQ" "DNA" "" "" "0000360599" "00359357" "1" "04023" "04023" "2021-03-19 17:52:51" "00006" "2021-03-22 10:30:12" "SEQ" "DNA" "" "" "0000363494" "00362265" "1" "01807" "01807" "2021-04-19 16:05:01" "" "" "SEQ" "DNA" "" "" "0000375409" "00374215" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375410" "00374216" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375411" "00374217" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375412" "00374218" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375413" "00374219" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375414" "00374220" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000388957" "00387726" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420764" "00419460" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427431" "00426111" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429411" "00427998" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000440138" "00438656" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000449307" "00447730" "1" "01164" "01164" "2024-01-26 15:16:43" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000470343" "00468675" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470344" "00468676" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470345" "00468677" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470346" "00468678" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470347" "00468679" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470348" "00468680" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470349" "00468681" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470350" "00468682" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472296" "00470629" "1" "01164" "01164" "2025-12-04 16:31:26" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000472941" "00471271" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" "0000472956" "00471286" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000472957" "00471287" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "solo WES" "0000472989" "00471319" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000472990" "00471320" "1" "00006" "00006" "2025-12-19 18:53:19" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 156 "{{screeningid}}" "{{geneid}}" "0000001372" "ATP1A3" "0000050476" "ATP1A3" "0000050621" "ATP1A3" "0000081054" "ATP1A3" "0000156619" "ATP1A3" "0000156620" "ATP1A3" "0000156621" "ATP1A3" "0000156622" "ATP1A3" "0000156623" "ATP1A3" "0000156624" "ATP1A3" "0000156625" "ATP1A3" "0000156626" "ATP1A3" "0000156627" "ATP1A3" "0000163872" "ATP1A3" "0000163873" "ATP1A3" "0000163874" "ATP1A3" "0000163875" "ATP1A3" "0000163876" "ATP1A3" "0000163877" "ATP1A3" "0000163878" "ATP1A3" "0000163879" "ATP1A3" "0000163880" "ATP1A3" "0000163881" "ATP1A3" "0000163882" "ATP1A3" "0000163883" "ATP1A3" "0000163884" "ATP1A3" "0000163885" "ATP1A3" "0000163886" "ATP1A3" "0000163887" "ATP1A3" "0000163888" "ATP1A3" "0000164516" "ATP1A3" "0000164517" "ATP1A3" "0000164518" "ATP1A3" "0000164519" "ATP1A3" "0000164520" "ATP1A3" "0000164521" "ATP1A3" "0000164522" "ATP1A3" "0000164523" "ATP1A3" "0000164524" "ATP1A3" "0000164525" "ATP1A3" "0000164526" "ATP1A3" "0000164527" "ATP1A3" "0000164528" "ATP1A3" "0000164529" "ATP1A3" "0000164530" "ATP1A3" "0000164531" "ATP1A3" "0000164532" "ATP1A3" "0000164533" "ATP1A3" "0000164534" "ATP1A3" "0000164535" "ATP1A3" "0000164536" "ATP1A3" "0000164537" "ATP1A3" "0000164538" "ATP1A3" "0000164539" "ATP1A3" "0000164540" "ATP1A3" "0000164541" "ATP1A3" "0000164542" "ATP1A3" "0000164543" "ATP1A3" "0000164544" "ATP1A3" "0000164545" "ATP1A3" "0000164546" "ATP1A3" "0000164547" "ATP1A3" "0000164548" "ATP1A3" "0000164549" "ATP1A3" "0000164550" "ATP1A3" "0000164551" "ATP1A3" "0000164552" "ATP1A3" "0000164553" "ATP1A3" "0000164554" "ATP1A3" "0000164555" "ATP1A3" "0000164556" "ATP1A3" "0000164557" "ATP1A3" "0000164558" "ATP1A3" "0000164559" "ATP1A3" "0000164560" "ATP1A3" "0000164561" "ATP1A3" "0000164562" "ATP1A3" "0000164563" "ATP1A3" "0000164564" "ATP1A3" "0000164565" "ATP1A3" "0000164566" "ATP1A3" "0000164567" "ATP1A3" "0000164568" "ATP1A3" "0000164569" "ATP1A3" "0000164570" "ATP1A3" "0000164571" "ATP1A3" "0000164572" "ATP1A3" "0000164573" "ATP1A3" "0000164574" "ATP1A3" "0000164575" "ATP1A3" "0000164576" "ATP1A3" "0000164577" "ATP1A3" "0000164578" "ATP1A3" "0000164579" "ATP1A3" "0000164580" "ATP1A3" "0000164581" "ATP1A3" "0000164582" "ATP1A3" "0000164583" "ATP1A3" "0000164584" "ATP1A3" "0000164585" "ATP1A3" "0000164586" "ATP1A3" "0000164587" "ATP1A3" "0000164588" "ATP1A3" "0000164589" "ATP1A3" "0000164590" "ATP1A3" "0000164591" "ATP1A3" "0000164592" "ATP1A3" "0000164593" "ATP1A3" "0000164594" "ATP1A3" "0000164595" "ATP1A3" "0000164596" "ATP1A3" "0000164597" "ATP1A3" "0000164598" "ATP1A3" "0000164599" "ATP1A3" "0000164600" "ATP1A3" "0000164601" "ATP1A3" "0000164602" "ATP1A3" "0000164603" "ATP1A3" "0000164604" "ATP1A3" "0000164605" "ATP1A3" "0000164606" "ATP1A3" "0000164607" "ATP1A3" "0000164849" "ATP1A3" "0000164865" "ATP1A3" "0000164866" "ATP1A3" "0000164867" "ATP1A3" "0000164868" "ATP1A3" "0000164869" "ATP1A3" "0000164870" "ATP1A3" "0000164871" "ATP1A3" "0000164872" "ATP1A3" "0000164873" "ATP1A3" "0000164874" "ATP1A3" "0000181057" "ATP1A3" "0000240895" "ATP1A3" "0000240896" "ATP1A3" "0000304091" "ATP1A3" "0000304092" "ATP1A3" "0000360510" "ATP1A3" "0000360512" "ATP1A3" "0000360582" "ATP1A3" "0000360585" "ATP1A3" "0000360592" "ATP1A3" "0000360594" "ATP1A3" "0000360596" "ATP1A3" "0000360597" "ATP1A3" "0000360599" "ATP1A3" "0000375409" "ATP1A3" "0000375410" "ATP1A3" "0000375411" "ATP1A3" "0000375412" "ATP1A3" "0000375413" "ATP1A3" "0000375414" "ATP1A3" "0000388957" "ATP1A3" "0000449307" "ATP1A3" "0000472296" "ATP1A3" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 328 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000019097" "0" "90" "19" "42486143" "42486143" "subst" "0" "00094" "ATP1A3_000012" "g.42486143G>T" "" "" "" "g.1109C>A" "" "De novo" "" "" "0" "" "" "g.41981991G>T" "" "pathogenic" "" "0000079456" "11" "90" "19" "42474691" "42474691" "subst" "0" "00006" "ATP1A3_000047" "g.42474691C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.41970539C>T" "" "pathogenic" "" "0000079601" "0" "90" "19" "42489099" "42489099" "subst" "0" "00006" "ATP1A3_000046" "g.42489099C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41984947C>T" "" "pathogenic" "" "0000130140" "0" "90" "19" "42474427" "42474427" "subst" "0" "01758" "ATP1A3_000045" "g.42474427C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.41970275C>T" "" "pathogenic" "ACMG" "0000247893" "0" "10" "19" "42489516" "42489516" "subst" "0.889071" "02325" "ATP1A3_000071" "g.42489516A>C" "" "" "" "ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985364A>C" "" "benign" "" "0000249871" "0" "10" "19" "42489516" "42489516" "subst" "0.889071" "02329" "ATP1A3_000071" "g.42489516A>C" "" "" "" "ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985364A>C" "" "benign" "" "0000253095" "0" "10" "19" "42489516" "42489516" "subst" "0.889071" "01943" "ATP1A3_000071" "g.42489516A>C" "" "" "" "ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985364A>C" "" "benign" "" "0000253937" "0" "10" "19" "42486278" "42486278" "subst" "0.0161754" "01943" "ATP1A3_000068" "g.42486278A>C" "" "" "" "ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41982126A>C" "" "benign" "" "0000259182" "0" "10" "19" "42492238" "42492238" "subst" "0.00117831" "02325" "ATP1A3_000074" "g.42492238T>A" "" "" "" "ATP1A3(NM_001256214.1):c.246A>T (p.A82=), ATP1A3(NM_001256214.2):c.246A>T (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988086T>A" "" "benign" "" "0000259547" "0" "30" "19" "42485987" "42485987" "subst" "0.0002396" "02325" "ATP1A3_000067" "g.42485987G>C" "" "" "" "ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981835G>C" "" "likely benign" "" "0000259548" "0" "30" "19" "42485803" "42485803" "subst" "8.12519E-6" "02325" "ATP1A3_000066" "g.42485803G>T" "" "" "" "ATP1A3(NM_001256214.2):c.1342-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981651G>T" "" "likely benign" "" "0000259549" "0" "30" "19" "42485768" "42485768" "subst" "0.00721259" "02325" "ATP1A3_000065" "g.42485768C>T" "" "" "" "ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981616C>T" "" "likely benign" "" "0000259550" "0" "30" "19" "42482076" "42482076" "subst" "0.00335808" "02325" "ATP1A3_000059" "g.42482076T>A" "" "" "" "ATP1A3(NM_001256213.1):c.1976+12A>T (p.(=)), ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41977924T>A" "" "likely benign" "" "0000259551" "0" "30" "19" "42474392" "42474392" "subst" "0.00734643" "02325" "ATP1A3_000054" "g.42474392C>T" "" "" "" "ATP1A3(NM_001256213.1):c.2520G>A (p.(Pro840=)), ATP1A3(NM_001256214.2):c.2526G>A (p.P842=), ATP1A3(NM_152296.5):c.2487G>A (p.P829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970240C>T" "" "likely benign" "" "0000259552" "0" "30" "19" "42474386" "42474386" "subst" "0.000138083" "02325" "ATP1A3_000053" "g.42474386C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2532G>A (p.T844=), ATP1A3(NM_152296.5):c.2493G>A (p.T831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970234C>T" "" "likely benign" "" "0000259553" "0" "30" "19" "42492088" "42492088" "subst" "0.00244371" "02325" "ATP1A3_000072" "g.42492088G>A" "" "" "" "ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41987936G>A" "" "likely benign" "" "0000259696" "0" "50" "19" "42480633" "42480633" "subst" "0" "02325" "ATP1A3_000096" "g.42480633C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2068G>A (p.E690K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41976481C>T" "" "VUS" "" "0000259697" "0" "50" "19" "42471895" "42471895" "subst" "0" "02325" "ATP1A3_000052" "g.42471895C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2879G>A (p.G960E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967743C>T" "" "VUS" "" "0000259698" "0" "50" "19" "42471839" "42471839" "subst" "0" "02325" "ATP1A3_000051" "g.42471839C>A" "" "" "" "ATP1A3(NM_001256214.2):c.2935G>T (p.V979L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967687C>A" "" "VUS" "" "0000259727" "0" "70" "19" "42474691" "42474691" "subst" "0" "02325" "ATP1A3_000047" "g.42474691C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2306G>A (p.R769H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970539C>T" "" "likely pathogenic" "" "0000259783" "0" "90" "19" "42474692" "42474692" "subst" "0" "02325" "ATP1A3_000056" "g.42474692G>A" "" "" "" "ATP1A3(NM_001256214.2):c.2305C>T (p.R769C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970540G>A" "" "pathogenic" "" "0000260245" "0" "90" "19" "42482322" "42482322" "subst" "0" "02329" "ATP1A3_000061" "g.42482322C>T" "" "" "" "ATP1A3(NM_001256214.2):c.1826G>A (p.C609Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41978170C>T" "" "pathogenic" "" "0000260246" "0" "30" "19" "42492296" "42492296" "subst" "0.00347299" "02329" "ATP1A3_000075" "g.42492296G>C" "" "" "" "ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.1):c.193-5C>G, ATP1A3(NM_001256214.2):c.193-5C>G, ATP1A3(NM_152296.5):c.154-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988144G>C" "" "likely benign" "" "0000260247" "0" "30" "19" "42489247" "42489247" "subst" "0.00147452" "02329" "ATP1A3_000070" "g.42489247C>T" "" "" "" "ATP1A3(NM_001256214.1):c.855G>A (p.T285=), ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985095C>T" "" "likely benign" "" "0000261194" "0" "30" "19" "42492296" "42492296" "subst" "0.00347299" "02326" "ATP1A3_000075" "g.42492296G>C" "" "" "" "ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.1):c.193-5C>G, ATP1A3(NM_001256214.2):c.193-5C>G, ATP1A3(NM_152296.5):c.154-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988144G>C" "" "likely benign" "" "0000263246" "0" "30" "19" "42482861" "42482861" "subst" "0.00303372" "01943" "ATP1A3_000064" "g.42482861G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1566C>T (p.S522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41978709G>A" "" "likely benign" "" "0000263249" "0" "30" "19" "42482125" "42482125" "subst" "4.87341E-5" "01943" "ATP1A3_000060" "g.42482125C>T" "" "" "" "ATP1A3(NM_001256214.1):c.1945G>A (p.A649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41977973C>T" "" "likely benign" "" "0000263250" "0" "30" "19" "42479959" "42479959" "subst" "8.56234E-5" "01943" "ATP1A3_000057" "g.42479959G>A" "" "" "" "ATP1A3(NM_001256214.1):c.2134-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41975807G>A" "" "likely benign" "" "0000263252" "0" "90" "19" "42474436" "42474436" "subst" "0" "01943" "ATP1A3_000021" "g.42474436C>T" "" "" "" "ATP1A3(NM_152296.5):c.2443G>A (p.E815K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000263253" "0" "10" "19" "42492238" "42492238" "subst" "0.00117831" "01943" "ATP1A3_000074" "g.42492238T>A" "" "" "" "ATP1A3(NM_001256214.1):c.246A>T (p.A82=), ATP1A3(NM_001256214.2):c.246A>T (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988086T>A" "" "benign" "" "0000263254" "0" "70" "19" "42471458" "42471460" "del" "0" "01943" "ATP1A3_000049" "g.42471458_42471460del" "" "" "" "ATP1A3(NM_152296.5):c.2954_2956delCTC (p.S985_F986delinsI)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967306_41967308del" "" "likely pathogenic" "" "0000263255" "0" "70" "19" "42471819" "42471821" "del" "0" "01943" "ATP1A3_000050" "g.42471819_42471821del" "" "" "" "ATP1A3(NM_001256214.1):c.2954_2956delCTC (p.P985del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967667_41967669del" "" "likely pathogenic" "" "0000263256" "0" "30" "19" "42471425" "42471425" "subst" "0" "01943" "ATP1A3_000048" "g.42471425G>A" "" "" "" "ATP1A3(NM_001256214.1):c.3028C>T (p.L1010F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967273G>A" "" "likely benign" "" "0000263257" "0" "30" "19" "42489247" "42489247" "subst" "0.00147452" "01943" "ATP1A3_000070" "g.42489247C>T" "" "" "" "ATP1A3(NM_001256214.1):c.855G>A (p.T285=), ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985095C>T" "" "likely benign" "" "0000326534" "0" "50" "19" "42489071" "42489071" "subst" "0" "01804" "ATP1A3_000069" "g.42489071G>A" "" "" "" "ATP1A3(NM_152296.4):c.992C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41984919G>A" "" "VUS" "" "0000336841" "0" "10" "19" "42471050" "42471050" "subst" "0.651636" "02327" "ATP1A3_000077" "g.42471050G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41966898G>C" "" "benign" "" "0000336842" "0" "30" "19" "42486278" "42486278" "subst" "0.0161754" "02327" "ATP1A3_000068" "g.42486278A>C" "" "" "" "ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41982126A>C" "" "likely benign" "" "0000338064" "0" "10" "19" "42474710" "42474710" "subst" "0.0112887" "02327" "ATP1A3_000085" "g.42474710G>A" "" "" "" "ATP1A3(NM_001256213.1):c.2297-16C>T (p.(=)), ATP1A3(NM_152296.5):c.2264-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970558G>A" "" "benign" "" "0000338065" "0" "30" "19" "42482076" "42482076" "subst" "0.00335808" "02327" "ATP1A3_000059" "g.42482076T>A" "" "" "" "ATP1A3(NM_001256213.1):c.1976+12A>T (p.(=)), ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41977924T>A" "" "likely benign" "" "0000339083" "0" "50" "19" "42485763" "42485768" "del" "0" "02327" "ATP1A3_000088" "g.42485763_42485768del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981611_41981616del" "" "VUS" "" "0000340060" "0" "10" "19" "42489516" "42489516" "subst" "0.889071" "02327" "ATP1A3_000071" "g.42489516A>C" "" "" "" "ATP1A3(NM_001256214.2):c.705T>G (p.T235=), ATP1A3(NM_152296.5):c.666T>G (p.T222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985364A>C" "" "benign" "" "0000340061" "0" "30" "19" "42492226" "42492226" "subst" "1.21856E-5" "02327" "ATP1A3_000092" "g.42492226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988074C>T" "" "likely benign" "" "0000340651" "0" "10" "19" "42485768" "42485768" "subst" "0.00721259" "02327" "ATP1A3_000065" "g.42485768C>T" "" "" "" "ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981616C>T" "" "benign" "" "0000340937" "0" "10" "19" "42474392" "42474392" "subst" "0.00734643" "02327" "ATP1A3_000054" "g.42474392C>T" "" "" "" "ATP1A3(NM_001256213.1):c.2520G>A (p.(Pro840=)), ATP1A3(NM_001256214.2):c.2526G>A (p.P842=), ATP1A3(NM_152296.5):c.2487G>A (p.P829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970240C>T" "" "benign" "" "0000341028" "0" "30" "19" "42473623" "42473623" "subst" "2.03047E-5" "02327" "ATP1A3_000079" "g.42473623G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41969471G>A" "" "likely benign" "" "0000341563" "0" "50" "19" "42479904" "42479904" "subst" "0" "02327" "ATP1A3_000086" "g.42479904C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41975752C>T" "" "VUS" "" "0000342899" "0" "50" "19" "42492495" "42492495" "subst" "2.84252E-5" "02327" "ATP1A3_000094" "g.42492495C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988343C>T" "" "VUS" "" "0000343340" "0" "90" "19" "42474692" "42474692" "subst" "0" "02327" "ATP1A3_000056" "g.42474692G>A" "" "" "" "ATP1A3(NM_001256214.2):c.2305C>T (p.R769C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970540G>A" "" "pathogenic" "" "0000344170" "0" "50" "19" "42492252" "42492252" "subst" "0" "02327" "ATP1A3_000093" "g.42492252C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988100C>G" "" "VUS" "" "0000344191" "0" "90" "19" "42474557" "42474557" "subst" "0" "02327" "ATP1A3_000018" "g.42474557C>T" "" "" "" "ATP1A3(NM_152296.5):c.2401G>A (p.D801N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000344988" "0" "50" "19" "42473723" "42473723" "subst" "0" "02327" "ATP1A3_000080" "g.42473723T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41969571T>G" "" "VUS" "" "0000345562" "0" "90" "19" "42474427" "42474427" "subst" "0" "02327" "ATP1A3_000045" "g.42474427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970275C>T" "" "pathogenic" "" "0000345994" "0" "70" "19" "42489090" "42489090" "subst" "0" "02327" "ATP1A3_000090" "g.42489090C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41984938C>G" "" "likely pathogenic" "" "0000346186" "0" "50" "19" "42482209" "42482209" "subst" "0" "02327" "ATP1A3_000087" "g.42482209C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41978057C>T" "" "VUS" "" "0000346331" "0" "90" "19" "42471896" "42471896" "subst" "0" "02327" "ATP1A3_000023" "g.42471896C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000346798" "0" "50" "19" "42474685" "42474685" "subst" "0" "02327" "ATP1A3_000084" "g.42474685A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970533A>T" "" "VUS" "" "0000346839" "0" "90" "19" "42492147" "42492147" "subst" "0" "02327" "ATP1A3_000091" "g.42492147G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41987995G>C" "" "pathogenic" "" "0000348575" "0" "70" "19" "42474634" "42474634" "subst" "0" "02327" "ATP1A3_000082" "g.42474634G>A" "" "" "" "ATP1A3(NM_001256214.2):c.2363C>T (p.P788L), ATP1A3(NM_152296.5):c.2324C>T (p.(Pro775Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970482G>A" "" "likely pathogenic" "" "0000348708" "0" "90" "19" "42490329" "42490329" "subst" "0" "02327" "ATP1A3_000011" "g.42490329G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41986177G>T" "" "pathogenic" "" "0000349402" "0" "10" "19" "42489247" "42489247" "subst" "0.00147452" "02327" "ATP1A3_000070" "g.42489247C>T" "" "" "" "ATP1A3(NM_001256214.1):c.855G>A (p.T285=), ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41985095C>T" "" "benign" "" "0000349866" "0" "50" "19" "42492162" "42492162" "subst" "0" "02327" "ATP1A3_000058" "g.42492162A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41988010A>G" "" "VUS" "" "0000349867" "0" "70" "19" "42471481" "42471481" "subst" "0" "02327" "ATP1A3_000078" "g.42471481C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41967329C>T" "" "likely pathogenic" "" "0000350191" "0" "50" "19" "42474655" "42474655" "subst" "0" "02327" "ATP1A3_000083" "g.42474655T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41970503T>C" "" "VUS" "" "0000359660" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359661" "11" "90" "19" "42471896" "42471896" "subst" "0" "02413" "ATP1A3_000024" "g.42471896C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.41967744C>G" "" "pathogenic" "" "0000359662" "21" "90" "19" "42471896" "42471896" "subst" "0" "02413" "ATP1A3_000023" "g.42471896C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000359663" "0" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359664" "0" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "no" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359665" "11" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359666" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359667" "0" "90" "19" "42471896" "42471896" "subst" "0" "02413" "ATP1A3_000024" "g.42471896C>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41967744C>G" "" "pathogenic" "" "0000359668" "0" "90" "19" "42471896" "42471896" "subst" "0" "02413" "ATP1A3_000023" "g.42471896C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000359669" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359670" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359671" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359672" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359673" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359674" "0" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359675" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359676" "0" "90" "19" "42471896" "42471896" "subst" "0" "02413" "ATP1A3_000023" "g.42471896C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000359677" "11" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359678" "0" "90" "19" "42474545" "42474545" "subst" "0" "02413" "ATP1A3_000041" "g.42474545C>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970393C>G" "" "pathogenic" "" "0000359679" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000359680" "11" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359681" "11" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359682" "0" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359683" "0" "90" "19" "42474436" "42474436" "subst" "0" "02413" "ATP1A3_000021" "g.42474436C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000359684" "0" "90" "19" "42474555" "42474555" "subst" "0" "02413" "ATP1A3_000095" "g.42474555A>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970403A>T" "" "pathogenic" "" "0000359685" "0" "90" "19" "42474646" "42474646" "subst" "0" "02413" "ATP1A3_000015" "g.42474646G>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970494G>T" "" "pathogenic" "" "0000367758" "1" "90" "19" "42482193" "42482193" "subst" "0" "00006" "ATP1A3_000001" "g.42482193G>A" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0001}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41978041G>A" "" "pathogenic" "" "0000367759" "1" "90" "19" "42482193" "42482193" "subst" "0" "00006" "ATP1A3_000001" "g.42482193G>A" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.41978041G>A" "" "pathogenic" "" "0000367760" "1" "90" "19" "42482193" "42482193" "subst" "0" "00006" "ATP1A3_000001" "g.42482193G>A" "" "{PMID:Brashear 2007:17282997}, {OMIM182350:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.41978041G>A" "" "pathogenic" "" "0000367761" "1" "90" "19" "42474685" "42474685" "subst" "0" "00006" "ATP1A3_000002" "g.42474685A>C" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0004}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970533A>C" "" "pathogenic" "" "0000367762" "1" "90" "19" "42474620" "42474620" "subst" "0" "00006" "ATP1A3_000003" "g.42474620A>G" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0005}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970468A>G" "" "pathogenic" "" "0000367763" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000004" "g.42474557C>A" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970405C>A" "" "pathogenic" "" "0000367764" "1" "90" "19" "42489242" "42489242" "subst" "0" "00006" "ATP1A3_000005" "g.42489242A>G" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41985090A>G" "" "pathogenic" "" "0000367765" "1" "90" "19" "42489234" "42489234" "subst" "0" "00006" "ATP1A3_000006" "g.42489234C>T" "" "{PMID:de Carvalho Aguiar 2004:15260953}, {OMIM182350:0003}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41985082C>T" "" "pathogenic" "" "0000367766" "1" "90" "19" "42489234" "42489234" "subst" "0" "00006" "ATP1A3_000006" "g.42489234C>T" "" "{PMID:Tarsy 2010:20558373}, {OMIM182350:0003}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41985082C>T" "" "pathogenic" "" "0000367767" "1" "90" "19" "42489085" "42489087" "del" "0" "00006" "ATP1A3_000007" "g.42489085_42489087del" "" "{PMID:Kamm 2008:18413579}" "" "979_981delCTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41984933_41984935del" "" "pathogenic" "" "0000367768" "1" "90" "19" "42480611" "42480611" "subst" "0" "00006" "ATP1A3_000008" "g.42480611G>A" "" "{PMID:Svetel 2010:19936820}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41976459G>A" "" "pathogenic" "" "0000367769" "1" "90" "19" "42472989" "42472989" "subst" "0" "00006" "ATP1A3_000009" "g.42472989C>T" "" "{PMID:Anselm 2009:19652145}, {OMIM182350:0007}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41968837C>T" "" "pathogenic" "" "0000367770" "1" "90" "19" "42471096" "42471098" "dup" "0" "00006" "ATP1A3_000010" "g.42471096_42471098dup" "" "{PMID:Blanco-Arias 2009:19351654}, {OMIM182350:0008}" "" "3191dupTAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41966944_41966946dup" "" "pathogenic" "" "0000367771" "1" "90" "19" "42490329" "42490329" "subst" "0" "00006" "ATP1A3_000011" "g.42490329G>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41986177G>T" "" "pathogenic" "" "0000367772" "1" "90" "19" "42490329" "42490329" "subst" "0" "00006" "ATP1A3_000025" "g.42490329G>A" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41986177G>A" "" "pathogenic" "" "0000367773" "1" "90" "19" "42490320" "42490320" "subst" "0" "00006" "ATP1A3_000026" "g.42490320T>A" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41986168T>A" "" "pathogenic" "" "0000367774" "1" "90" "19" "42489524" "42489524" "subst" "4.06161E-6" "00006" "ATP1A3_000027" "g.42489524C>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41985372C>T" "" "pathogenic" "" "0000367775" "1" "90" "19" "42489242" "42489242" "subst" "0" "00006" "ATP1A3_000028" "g.42489242A>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "Germline" "" "" "0" "" "" "g.41985090A>T" "" "pathogenic" "" "0000367776" "1" "90" "19" "42486254" "42486254" "subst" "0" "00006" "ATP1A3_000029" "g.42486254C>A" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41982102C>A" "" "pathogenic" "" "0000367777" "1" "90" "19" "42486254" "42486254" "subst" "0" "00006" "ATP1A3_000029" "g.42486254C>A" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41982102C>A" "" "pathogenic" "" "0000367778" "1" "90" "19" "42479781" "42479781" "subst" "0" "00006" "ATP1A3_000013" "g.42479781C>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41975629C>T" "" "pathogenic" "" "0000367779" "1" "90" "19" "42474640" "42474640" "subst" "0" "00006" "ATP1A3_000030" "g.42474640T>C" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41970488T>C" "" "pathogenic" "" "0000367780" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367781" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367782" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367783" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367784" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367785" "1" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0009}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000367786" "1" "90" "19" "42474541" "42474541" "subst" "0" "00006" "ATP1A3_000031" "g.42474541A>C" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970389A>C" "" "pathogenic" "" "0000367787" "1" "90" "19" "42474450" "42474450" "subst" "0" "00006" "ATP1A3_000032" "g.42474450A>C" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41970298A>C" "" "pathogenic" "" "0000367788" "1" "90" "19" "42474448" "42474448" "subst" "0" "00006" "ATP1A3_000033" "g.42474448A>G" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0011}" "" "" "" "De novo" "" "" "0" "" "" "g.41970296A>G" "" "pathogenic" "" "0000367789" "1" "90" "19" "42474448" "42474448" "subst" "0" "00006" "ATP1A3_000033" "g.42474448A>G" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0011}" "" "" "" "De novo" "" "" "0" "" "" "g.41970296A>G" "" "pathogenic" "" "0000367790" "1" "90" "19" "42474436" "42474436" "subst" "0" "00006" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0010}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000367791" "1" "90" "19" "42474436" "42474436" "subst" "0" "00006" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000367792" "1" "90" "19" "42474436" "42474436" "subst" "0" "00006" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0010}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000367793" "1" "90" "19" "42473733" "42473733" "subst" "0" "00006" "ATP1A3_000034" "g.42473733C>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41969581C>T" "" "pathogenic" "" "0000367794" "1" "90" "19" "42473002" "42473004" "del" "0" "00006" "ATP1A3_000035" "g.42473002_42473004del" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41968850_41968852del" "" "pathogenic" "" "0000367795" "1" "90" "19" "42471896" "42471896" "subst" "0" "00006" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0012}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000367796" "1" "90" "19" "42471896" "42471896" "subst" "0" "00006" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Heinzen 2012:228422324}, {OMIM182350:0012}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000367797" "1" "90" "19" "42471871" "42471871" "subst" "0" "00006" "ATP1A3_000036" "g.42471871G>T" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "De novo" "" "" "0" "" "" "g.41967719G>T" "" "pathogenic" "" "0000367798" "1" "90" "19" "42471440" "42471440" "subst" "0" "00006" "ATP1A3_000037" "g.42471440C>A" "" "{PMID:Heinzen 2012:228422324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41967288C>A" "" "pathogenic" "" "0000367799" "1" "70" "19" "42490329" "42490329" "subst" "0" "00093" "ATP1A3_000011" "g.42490329G>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41986177G>T" "" "likely pathogenic" "" "0000367800" "1" "70" "19" "42486143" "42486143" "subst" "0" "00093" "ATP1A3_000012" "g.42486143G>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41981991G>T" "" "likely pathogenic" "" "0000367801" "1" "70" "19" "42479781" "42479781" "subst" "0" "00093" "ATP1A3_000013" "g.42479781C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41975629C>T" "" "likely pathogenic" "" "0000367802" "1" "70" "19" "42474649" "42474649" "subst" "0" "00093" "ATP1A3_000014" "g.42474649A>C" "" "{PMID:Yang 2014:24842602}" "" "" "" "Germline" "" "" "0" "" "" "g.41970497A>C" "" "likely pathogenic" "" "0000367803" "1" "70" "19" "42474646" "42474646" "subst" "0" "00093" "ATP1A3_000015" "g.42474646G>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970494G>T" "" "likely pathogenic" "" "0000367804" "1" "70" "19" "42474646" "42474646" "subst" "0" "00093" "ATP1A3_000016" "g.42474646G>A" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970494G>A" "" "likely pathogenic" "" "0000367805" "1" "70" "19" "42474642" "42474642" "subst" "0" "00093" "ATP1A3_000017" "g.42474642G>C" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970490G>C" "" "likely pathogenic" "" "0000367806" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367807" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367808" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367809" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367810" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367811" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367812" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367813" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367814" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367815" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367816" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367817" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367818" "1" "70" "19" "42474541" "42474541" "subst" "0" "00093" "ATP1A3_000019" "g.42474541A>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970389A>T" "" "likely pathogenic" "" "0000367819" "1" "70" "19" "42474450" "42474450" "subst" "0" "00093" "ATP1A3_000020" "g.42474450A>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970298A>T" "" "likely pathogenic" "" "0000367820" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367821" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367822" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367823" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367824" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367825" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367826" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367827" "1" "70" "19" "42472989" "42472989" "subst" "0" "00093" "ATP1A3_000009" "g.42472989C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41968837C>T" "" "likely pathogenic" "" "0000367828" "1" "70" "19" "42472989" "42472989" "subst" "0" "00093" "ATP1A3_000022" "g.42472989C>A" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41968837C>A" "" "likely pathogenic" "" "0000367829" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "likely pathogenic" "" "0000367830" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "likely pathogenic" "" "0000367831" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "likely pathogenic" "" "0000367832" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "likely pathogenic" "" "0000367833" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000024" "g.42471896C>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "Germline" "" "" "0" "" "" "g.41967744C>G" "" "likely pathogenic" "" "0000367834" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000024" "g.42471896C>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>G" "" "likely pathogenic" "" "0000367835" "1" "70" "19" "42479928" "42479928" "subst" "0" "00093" "ATP1A3_000038" "g.42479928C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41975776C>T" "" "likely pathogenic" "" "0000367836" "1" "70" "19" "42479781" "42479781" "subst" "0" "00093" "ATP1A3_000039" "g.42479781C>A" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41975629C>A" "" "likely pathogenic" "" "0000367837" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367838" "1" "70" "19" "42474557" "42474557" "subst" "0" "00093" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970405C>T" "" "likely pathogenic" "" "0000367839" "1" "70" "19" "42474553" "42474553" "subst" "0" "00093" "ATP1A3_000040" "g.42474553A>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970401A>G" "" "likely pathogenic" "" "0000367840" "1" "70" "19" "42474553" "42474553" "subst" "0" "00093" "ATP1A3_000040" "g.42474553A>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970401A>G" "" "likely pathogenic" "" "0000367841" "1" "70" "19" "42474545" "42474545" "subst" "0" "00093" "ATP1A3_000041" "g.42474545C>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970393C>G" "" "likely pathogenic" "" "0000367842" "1" "70" "19" "42474456" "42474456" "subst" "0" "00093" "ATP1A3_000042" "g.42474456G>A" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970304G>A" "" "likely pathogenic" "" "0000367843" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367844" "1" "70" "19" "42474436" "42474436" "subst" "0" "00093" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "likely pathogenic" "" "0000367845" "1" "70" "19" "42474363" "42474363" "subst" "0" "00093" "ATP1A3_000043" "g.42474363A>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41970211A>G" "" "likely pathogenic" "" "0000367846" "1" "70" "19" "42473598" "42473598" "subst" "0" "00093" "ATP1A3_000044" "g.42473598C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41969446C>T" "" "likely pathogenic" "" "0000367847" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>T" "" "likely pathogenic" "" "0000367848" "1" "70" "19" "42471896" "42471896" "subst" "0" "00093" "ATP1A3_000024" "g.42471896C>G" "" "{PMID:Yang 2014:24842602}" "" "" "" "De novo" "" "" "0" "" "" "g.41967744C>G" "" "likely pathogenic" "" "0000367849" "0" "90" "19" "42474427" "42474427" "subst" "0" "02441" "ATP1A3_000045" "g.42474427C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41970275C>T" "" "pathogenic" "" "0000368462" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000368479" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000368480" "11" "70" "19" "42486188" "42486190" "del" "0" "02413" "ATP1A3_000097" "g.42486188_42486190del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.41982036_41982038del" "" "likely pathogenic" "" "0000368481" "0" "70" "19" "42473002" "42473004" "del" "0" "02413" "ATP1A3_000035" "g.42473002_42473004del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41968850_41968852del" "" "likely pathogenic" "" "0000368482" "0" "70" "19" "42471440" "42471440" "subst" "0" "02413" "ATP1A3_000037" "g.42471440C>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41967288C>A" "" "likely pathogenic" "" "0000368483" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000368484" "0" "70" "19" "42474450" "42474450" "subst" "0" "02413" "ATP1A3_000098" "g.42474450A>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970298A>G" "" "likely pathogenic" "" "0000368485" "0" "90" "19" "42472989" "42472989" "subst" "0" "02413" "ATP1A3_000009" "g.42472989C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41968837C>T" "" "pathogenic" "" "0000368486" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000368487" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000368488" "0" "90" "19" "42474557" "42474557" "subst" "0" "02413" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000404693" "0" "90" "19" "42490329" "42490329" "subst" "0" "00006" "ATP1A3_000025" "g.42490329G>A" "" "{PMID:Tumienė 2018:29286531}" "" "449C>T" "" "De novo" "" "" "0" "" "" "g.41986177G>A" "" "pathogenic" "ACMG" "0000455203" "0" "50" "19" "42482932" "42482932" "subst" "0" "01807" "ATP1A3_000099" "g.42482932C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41978780C>T" "" "VUS" "" "0000455744" "0" "50" "19" "42473720" "42473720" "subst" "0" "01807" "ATP1A3_000100" "g.42473720G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41969568G>C" "" "VUS" "" "0000486677" "0" "70" "19" "42474400" "42474400" "subst" "0" "03320" "ATP1A3_000102" "g.42474400T>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41970248T>A" "" "pathogenic" "" "0000486678" "0" "70" "19" "42473675" "42473675" "subst" "0" "03320" "ATP1A3_000101" "g.42473675C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41969523C>A" "" "pathogenic" "" "0000567462" "0" "30" "19" "42470764" "42470764" "subst" "0" "01943" "ATP1A3_000103" "g.42470764T>G" "" "" "" "ATP1A3(NM_152296.5):c.*325A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41966612T>G" "" "likely benign" "" "0000567463" "0" "70" "19" "42471440" "42471440" "subst" "0" "02327" "ATP1A3_000037" "g.42471440C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41967288C>A" "" "likely pathogenic" "" "0000567464" "0" "10" "19" "42473626" "42473626" "subst" "4.06065E-6" "01943" "ATP1A3_000104" "g.42473626G>A" "" "" "" "ATP1A3(NM_152296.5):c.2649C>T (p.R883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41969474G>A" "" "benign" "" "0000567465" "0" "90" "19" "42474335" "42474335" "subst" "0" "02327" "ATP1A3_000105" "g.42474335A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970183A>G" "" "pathogenic" "" "0000567466" "0" "30" "19" "42474374" "42474374" "subst" "0" "01943" "ATP1A3_000106" "g.42474374G>A" "" "" "" "ATP1A3(NM_152296.5):c.2505C>T (p.V835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970222G>A" "" "likely benign" "" "0000567467" "0" "30" "19" "42474386" "42474386" "subst" "0.000138083" "02329" "ATP1A3_000053" "g.42474386C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2532G>A (p.T844=), ATP1A3(NM_152296.5):c.2493G>A (p.T831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970234C>T" "" "likely benign" "" "0000567468" "0" "90" "19" "42474436" "42474436" "subst" "0" "02327" "ATP1A3_000021" "g.42474436C>T" "" "" "" "ATP1A3(NM_152296.5):c.2443G>A (p.E815K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970284C>T" "" "pathogenic" "" "0000567469" "0" "70" "19" "42474556" "42474556" "subst" "0" "02327" "ATP1A3_000107" "g.42474556T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970404T>C" "" "likely pathogenic" "" "0000567470" "0" "90" "19" "42474557" "42474557" "subst" "0" "01943" "ATP1A3_000018" "g.42474557C>T" "" "" "" "ATP1A3(NM_152296.5):c.2401G>A (p.D801N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970405C>T" "" "pathogenic" "" "0000567471" "0" "50" "19" "42474634" "42474634" "subst" "0" "02329" "ATP1A3_000082" "g.42474634G>A" "" "" "" "ATP1A3(NM_001256214.2):c.2363C>T (p.P788L), ATP1A3(NM_152296.5):c.2324C>T (p.(Pro775Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970482G>A" "" "VUS" "" "0000567472" "0" "90" "19" "42474691" "42474691" "subst" "0" "02327" "ATP1A3_000047" "g.42474691C>T" "" "" "" "ATP1A3(NM_001256214.2):c.2306G>A (p.R769H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970539C>T" "" "pathogenic" "" "0000567473" "0" "30" "19" "42474710" "42474710" "subst" "0.0112887" "01943" "ATP1A3_000085" "g.42474710G>A" "" "" "" "ATP1A3(NM_001256213.1):c.2297-16C>T (p.(=)), ATP1A3(NM_152296.5):c.2264-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970558G>A" "" "likely benign" "" "0000567474" "0" "10" "19" "42474710" "42474710" "subst" "0.0112887" "02329" "ATP1A3_000085" "g.42474710G>A" "" "" "" "ATP1A3(NM_001256213.1):c.2297-16C>T (p.(=)), ATP1A3(NM_152296.5):c.2264-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970558G>A" "" "benign" "" "0000567475" "0" "70" "19" "42479812" "42479812" "subst" "0" "02325" "ATP1A3_000108" "g.42479812G>T" "" "" "" "ATP1A3(NM_001256214.2):c.2271C>A (p.N757K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41975660G>T" "" "likely pathogenic" "" "0000567476" "0" "30" "19" "42480738" "42480738" "subst" "0.000492218" "02326" "ATP1A3_000109" "g.42480738C>A" "" "" "" "ATP1A3(NM_001256214.2):c.1983-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41976586C>A" "" "likely benign" "" "0000567478" "0" "50" "19" "42482335" "42482335" "subst" "0" "02327" "ATP1A3_000111" "g.42482335C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41978183C>T" "" "VUS" "" "0000567479" "0" "30" "19" "42485768" "42485768" "subst" "0.00721259" "01943" "ATP1A3_000065" "g.42485768C>T" "" "" "" "ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981616C>T" "" "likely benign" "" "0000567480" "0" "30" "19" "42485987" "42485987" "subst" "0.0002396" "01943" "ATP1A3_000067" "g.42485987G>C" "" "" "" "ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981835G>C" "" "likely benign" "" "0000567481" "0" "30" "19" "42486054" "42486054" "subst" "0.000105577" "01943" "ATP1A3_000112" "g.42486054G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1231+6C>T, ATP1A3(NM_001256214.2):c.1231+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981902G>A" "" "likely benign" "" "0000567483" "0" "30" "19" "42486247" "42486247" "subst" "6.09167E-5" "01943" "ATP1A3_000114" "g.42486247C>T" "" "" "" "ATP1A3(NM_001256214.1):c.1044G>A (p.T348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41982095C>T" "" "likely benign" "" "0000567484" "0" "10" "19" "42486278" "42486278" "subst" "0.0161754" "02329" "ATP1A3_000068" "g.42486278A>C" "" "" "" "ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41982126A>C" "" "benign" "" "0000567486" "0" "50" "19" "42489179" "42489179" "subst" "0" "02327" "ATP1A3_000116" "g.42489179G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41985027G>A" "" "VUS" "" "0000567487" "0" "50" "19" "42490293" "42490293" "subst" "0" "02327" "ATP1A3_000117" "g.42490293T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41986141T>C" "" "VUS" "" "0000567488" "0" "30" "19" "42492088" "42492088" "subst" "0.00244371" "01943" "ATP1A3_000072" "g.42492088G>A" "" "" "" "ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41987936G>A" "" "likely benign" "" "0000567489" "0" "30" "19" "42492088" "42492088" "subst" "0.00244371" "02326" "ATP1A3_000072" "g.42492088G>A" "" "" "" "ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41987936G>A" "" "likely benign" "" "0000567490" "0" "50" "19" "42492254" "42492254" "subst" "3.65958E-5" "01943" "ATP1A3_000118" "g.42492254C>T" "" "" "" "ATP1A3(NM_001256214.1):c.230G>A (p.R77Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41988102C>T" "" "VUS" "" "0000567491" "0" "30" "19" "42492703" "42492703" "subst" "4.06062E-6" "01943" "ATP1A3_000119" "g.42492703A>G" "" "" "" "ATP1A3(NM_001256214.1):c.57T>C (p.D19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41988551A>G" "" "likely benign" "" "0000617639" "0" "90" "19" "42472989" "42472989" "subst" "0" "02327" "ATP1A3_000009" "g.42472989C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41968837C>T" "" "pathogenic" "" "0000617640" "0" "30" "19" "42474440" "42474440" "subst" "3.65521E-5" "01943" "ATP1A3_000121" "g.42474440C>T" "" "" "" "ATP1A3(NM_001256214.1):c.2478G>A (p.A826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970288C>T" "" "likely benign" "" "0000617641" "0" "30" "19" "42485916" "42485916" "subst" "0.000235518" "01943" "ATP1A3_000122" "g.42485916G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1299C>T (p.R433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981764G>A" "" "likely benign" "" "0000617642" "0" "30" "19" "42485987" "42485987" "subst" "0.0002396" "02326" "ATP1A3_000067" "g.42485987G>C" "" "" "" "ATP1A3(NM_001256214.1):c.1232-4C>G, ATP1A3(NM_001256214.2):c.1232-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981835G>C" "" "likely benign" "" "0000617643" "0" "70" "19" "42486176" "42486176" "subst" "0" "01804" "ATP1A3_000123" "g.42486176G>T" "" "" "" "ATP1A3(NM_152296.4):c.1076C>A (p.(Ser359Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41982024G>T" "" "likely pathogenic" "" "0000624012" "0" "30" "19" "42474392" "42474392" "subst" "0.00734643" "02329" "ATP1A3_000054" "g.42474392C>T" "" "" "" "ATP1A3(NM_001256213.1):c.2520G>A (p.(Pro840=)), ATP1A3(NM_001256214.2):c.2526G>A (p.P842=), ATP1A3(NM_152296.5):c.2487G>A (p.P829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41970240C>T" "" "likely benign" "" "0000624013" "0" "30" "19" "42482076" "42482076" "subst" "0.00335808" "02329" "ATP1A3_000059" "g.42482076T>A" "" "" "" "ATP1A3(NM_001256213.1):c.1976+12A>T (p.(=)), ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41977924T>A" "" "likely benign" "" "0000624014" "0" "30" "19" "42485768" "42485768" "subst" "0.00721259" "02329" "ATP1A3_000065" "g.42485768C>T" "" "" "" "ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981616C>T" "" "likely benign" "" "0000649998" "1" "70" "19" "42489089" "42489089" "subst" "0" "03575" "ATP1A3_000124" "g.42489089C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863224847}" "Germline" "" "rs863224847" "0" "" "" "g.41984937C>T" "" "likely pathogenic" "" "0000658580" "0" "30" "19" "42485678" "42485678" "subst" "0" "01943" "ATP1A3_000125" "g.42485678G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1452C>T (p.P484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981526G>A" "" "likely benign" "" "0000658581" "0" "50" "19" "42486261" "42486261" "subst" "0.00011779" "01943" "ATP1A3_000126" "g.42486261G>C" "" "" "" "ATP1A3(NM_001256214.1):c.1033-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41982109G>C" "" "VUS" "" "0000658582" "0" "50" "19" "42489493" "42489493" "subst" "0" "01943" "ATP1A3_000127" "g.42489493C>T" "" "" "" "ATP1A3(NM_001256214.1):c.728G>A (p.R243Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41985341C>T" "" "VUS" "" "0000667489" "1" "90" "19" "42474427" "42474427" "subst" "0" "00006" "ATP1A3_000045" "g.42474427C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.41970275C>T" "" "pathogenic" "ACMG" "0000667490" "0" "70" "19" "42489092" "42489092" "subst" "0" "00006" "ATP1A3_000128" "g.42489092T>C" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.41984940T>C" "" "likely pathogenic (dominant)" "ACMG" "0000681422" "0" "30" "19" "42486054" "42486054" "subst" "0.000105577" "02326" "ATP1A3_000112" "g.42486054G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1231+6C>T, ATP1A3(NM_001256214.2):c.1231+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681423" "0" "30" "19" "42490376" "42490376" "subst" "0.000727506" "01943" "ATP1A3_000129" "g.42490376G>A" "" "" "" "ATP1A3(NM_001256214.1):c.402C>T (p.Y134=), ATP1A3(NM_001256214.2):c.402C>T (p.Y134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681424" "0" "30" "19" "42492719" "42492719" "subst" "1.21819E-5" "01943" "ATP1A3_000130" "g.42492719G>A" "" "" "" "ATP1A3(NM_001256214.1):c.41C>T (p.S14L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685825" "0" "50" "19" "42492665" "42492665" "subst" "1.62425E-5" "01164" "ATP1A3_000131" "g.42492665C>T" "" "" "" "" "ACMG grading: BP4,PM2\r\n2y old male" "Germline" "" "rs782596240" "0" "" "" "" "" "VUS" "ACMG" "0000692799" "0" "30" "19" "42474531" "42474531" "subst" "1.21841E-5" "01943" "ATP1A3_000132" "g.42474531A>T" "" "" "" "ATP1A3(NM_001256214.1):c.2457+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692800" "0" "30" "19" "42482783" "42482783" "subst" "0" "01943" "ATP1A3_000133" "g.42482783G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1644C>T (p.L548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692801" "0" "50" "19" "42485704" "42485704" "subst" "0.000487266" "01943" "ATP1A3_000134" "g.42485704G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1426C>T (p.R476C), ATP1A3(NM_152296.5):c.1387C>T (p.(Arg463Cys), p.R463C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692802" "0" "30" "19" "42486088" "42486088" "subst" "1.62426E-5" "01943" "ATP1A3_000135" "g.42486088G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1203C>T (p.H401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692803" "0" "30" "19" "42486088" "42486088" "subst" "0" "01943" "ATP1A3_000136" "g.42486088G>T" "" "" "" "ATP1A3(NM_001256214.1):c.1203C>A (p.H401Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692804" "0" "30" "19" "42486235" "42486235" "subst" "4.87306E-5" "01943" "ATP1A3_000137" "g.42486235C>T" "" "" "" "ATP1A3(NM_001256214.1):c.1056G>A (p.K352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692805" "0" "50" "19" "42489108" "42489108" "subst" "0" "02325" "ATP1A3_000138" "g.42489108C>T" "" "" "" "ATP1A3(NM_152296.5):c.955G>A (p.V319M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692806" "0" "30" "19" "42492088" "42492088" "subst" "0.00244371" "01804" "ATP1A3_000072" "g.42492088G>A" "" "" "" "ATP1A3(NM_001256213.1):c.390C>T (p.(Asn130=)), ATP1A3(NM_001256214.1):c.396C>T (p.N132=), ATP1A3(NM_001256214.2):c.396C>T (p.N132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727388" "0" "30" "19" "42474466" "42474466" "subst" "0.000113738" "02326" "ATP1A3_000139" "g.42474466C>T" "" "" "" "ATP1A3(NM_152296.5):c.2419-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727389" "0" "70" "19" "42486179" "42486179" "subst" "0" "02329" "ATP1A3_000113" "g.42486179C>A" "" "" "" "ATP1A3(NM_001256214.2):c.1112G>T (p.G371V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727390" "0" "30" "19" "42489247" "42489247" "subst" "0.00147452" "02326" "ATP1A3_000070" "g.42489247C>T" "" "" "" "ATP1A3(NM_001256214.1):c.855G>A (p.T285=), ATP1A3(NM_001256214.2):c.855G>A (p.T285=), ATP1A3(NM_152296.5):c.816G>A (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727391" "0" "10" "19" "42490376" "42490376" "subst" "0.000727506" "02326" "ATP1A3_000129" "g.42490376G>A" "" "" "" "ATP1A3(NM_001256214.1):c.402C>T (p.Y134=), ATP1A3(NM_001256214.2):c.402C>T (p.Y134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000760533" "0" "90" "19" "42489098" "42489098" "subst" "0" "04023" "ATP1A3_000144" "g.42489098A>T" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000760623" "0" "90" "19" "42489242" "42489242" "subst" "0" "04023" "ATP1A3_000028" "g.42489242A>T" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000760628" "0" "90" "19" "42474557" "42474557" "subst" "0" "04023" "ATP1A3_000018" "g.42474557C>T" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000760630" "0" "90" "19" "42486240" "42486240" "subst" "0" "04023" "ATP1A3_000143" "g.42486240C>G" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "0" "" "" "g.41982088C>G" "" "pathogenic" "" "0000760633" "0" "90" "19" "42482344" "42482344" "subst" "0" "04023" "ATP1A3_000142" "g.42482344C>A" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000760635" "0" "90" "19" "42479817" "42479817" "subst" "0" "04023" "ATP1A3_000141" "g.42479817C>G" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000760637" "0" "90" "19" "42474557" "42474557" "subst" "0" "04023" "ATP1A3_000018" "g.42474557C>T" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000760638" "0" "90" "19" "42473612" "42473612" "subst" "0" "04023" "ATP1A3_000140" "g.42473612A>G" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000760640" "0" "90" "19" "42486143" "42486143" "subst" "0" "04023" "ATP1A3_000012" "g.42486143G>T" "" "{DOI:Cordani 2021:10.3389/fneur.2021.658451}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000764188" "0" "90" "19" "42474557" "42474557" "subst" "0" "01807" "ATP1A3_000018" "g.42474557C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000786760" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000786761" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000786762" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0000786763" "0" "90" "19" "42474436" "42474436" "subst" "0" "00006" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic" "" "0000786764" "0" "90" "19" "42471896" "42471896" "subst" "0" "00006" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000786765" "0" "90" "19" "42471896" "42471896" "subst" "0" "00006" "ATP1A3_000023" "g.42471896C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.41967744C>T" "" "pathogenic" "" "0000808891" "0" "30" "19" "42482076" "42482076" "subst" "0.00335808" "02326" "ATP1A3_000059" "g.42482076T>A" "" "" "" "ATP1A3(NM_001256213.1):c.1976+12A>T (p.(=)), ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808892" "0" "50" "19" "42482916" "42482916" "subst" "2.43675E-5" "01943" "ATP1A3_000145" "g.42482916T>C" "" "" "" "ATP1A3(NM_001256214.1):c.1511A>G (p.N504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808893" "0" "30" "19" "42489154" "42489154" "subst" "6.91338E-5" "01943" "ATP1A3_000146" "g.42489154G>A" "" "" "" "ATP1A3(NM_001256214.1):c.948C>T (p.L316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817750" "3" "70" "19" "42485704" "42485704" "subst" "0.000487266" "00006" "ATP1A3_000134" "g.42485704G>A" "" "{PMID:Hu 2019:29302074}" "" "NM_001256214:c.1426C>T" "" "Germline" "" "" "0" "" "" "g.41981552G>A" "" "likely pathogenic (recessive)" "ACMG" "0000855596" "0" "30" "19" "42474601" "42474601" "subst" "0" "01943" "ATP1A3_000147" "g.42474601G>A" "" "" "" "ATP1A3(NM_001256214.1):c.2396C>T (p.A799V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855597" "0" "30" "19" "42480559" "42480559" "subst" "2.03156E-5" "01943" "ATP1A3_000148" "g.42480559G>A" "" "" "" "ATP1A3(NM_001256214.1):c.2133+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855598" "0" "70" "19" "42490272" "42490272" "subst" "0" "02327" "ATP1A3_000149" "g.42490272G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855599" "0" "30" "19" "42498220" "42498220" "subst" "0.000253895" "01943" "ATP1A3_000150" "g.42498220T>C" "" "" "" "ATP1A3(NM_001256214.1):c.6+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866144" "0" "10" "19" "42474392" "42474392" "subst" "0.00734643" "01804" "ATP1A3_000054" "g.42474392C>T" "" "" "" "ATP1A3(NM_001256213.1):c.2520G>A (p.(Pro840=)), ATP1A3(NM_001256214.2):c.2526G>A (p.P842=), ATP1A3(NM_152296.5):c.2487G>A (p.P829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866145" "0" "10" "19" "42474710" "42474710" "subst" "0.0112887" "01804" "ATP1A3_000085" "g.42474710G>A" "" "" "" "ATP1A3(NM_001256213.1):c.2297-16C>T (p.(=)), ATP1A3(NM_152296.5):c.2264-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866146" "0" "30" "19" "42482076" "42482076" "subst" "0.00335808" "01804" "ATP1A3_000059" "g.42482076T>A" "" "" "" "ATP1A3(NM_001256213.1):c.1976+12A>T (p.(=)), ATP1A3(NM_001256214.2):c.1982+12A>T, ATP1A3(NM_152296.5):c.1943+12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866147" "0" "30" "19" "42485768" "42485768" "subst" "0.00721259" "01804" "ATP1A3_000065" "g.42485768C>T" "" "" "" "ATP1A3(NM_001256213.1):c.1356G>A (p.(Ala452=)), ATP1A3(NM_001256214.2):c.1362G>A (p.A454=), ATP1A3(NM_152296.5):c.1323G>A (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866148" "0" "30" "19" "42486278" "42486278" "subst" "0.0161754" "01804" "ATP1A3_000068" "g.42486278A>C" "" "" "" "ATP1A3(NM_001256213.1):c.1027-20T>G (p.(=)), ATP1A3(NM_152296.5):c.994-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866149" "0" "30" "19" "42492296" "42492296" "subst" "0.00347299" "01804" "ATP1A3_000075" "g.42492296G>C" "" "" "" "ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.1):c.193-5C>G, ATP1A3(NM_001256214.2):c.193-5C>G, ATP1A3(NM_152296.5):c.154-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881123" "0" "90" "19" "42474427" "42474427" "subst" "0" "02300" "ATP1A3_000045" "g.42474427C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP5" "Germline/De novo (untested)" "" "rs587777771" "0" "" "" "g.41970275C>T" "" "pathogenic (dominant)" "ACMG" "0000904791" "0" "70" "19" "42489219" "42489219" "subst" "0" "00006" "ATP1A3_000151" "g.42489219T>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001256213.1:c.877A>C (Ile293Leu)" "" "Germline" "" "" "0" "" "" "g.41985067T>G" "" "VUS" "" "0000908884" "0" "70" "19" "42473068" "42473068" "subst" "0" "00006" "ATP1A3_000152" "g.42473068C>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "intron retention, cryptic splice acceptor" "De novo" "" "" "0" "" "" "g.41968916C>A" "" "likely pathogenic (dominant)" "" "0000915240" "0" "50" "19" "42482320" "42482320" "subst" "0" "02325" "ATP1A3_000153" "g.42482320G>A" "" "" "" "ATP1A3(NM_152296.5):c.1789C>T (p.R597C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915241" "0" "30" "19" "42492545" "42492545" "subst" "0.000134006" "01804" "ATP1A3_000154" "g.42492545T>G" "" "" "" "ATP1A3(NM_001256213.1):c.127-16A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936433" "0" "70" "19" "42482344" "42482344" "subst" "0" "00006" "ATP1A3_000142" "g.42482344C>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_152296:c.G1765T (V589F)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000951305" "0" "50" "19" "42489225" "42489225" "subst" "0" "02327" "ATP1A3_000155" "g.42489225G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959512" "0" "70" "19" "42474551" "42474551" "subst" "0" "01164" "ATP1A3_000156" "g.42474551C>A" "" "" "" "" "ACMG: PM5, PP3_MOD, PS2_SUP, PM2_SUP, PP2; confirmed de novo; p.Gly803Ser/Arg/Asp) are LP/P" "De novo" "-" "" "" "" "" "g.41970399C>A" "" "likely pathogenic (dominant)" "ACMG" "0000960161" "0" "90" "19" "42474427" "42474427" "subst" "0" "00006" "ATP1A3_000045" "g.42474427C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "NM_001256214.2:c.2491G>A" "ACMG PS2_VS, PM2, PP1_S, PP3" "De novo" "" "" "0" "" "" "g.41970275C>T" "" "pathogenic (dominant)" "" "0000969774" "0" "30" "19" "42473665" "42473665" "subst" "0.00351661" "01943" "ATP1A3_000157" "g.42473665G>A" "" "" "" "ATP1A3(NM_001256214.1):c.2649C>T (p.P883=), ATP1A3(NM_152296.5):c.2610C>T (p.P870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969775" "0" "90" "19" "42482193" "42482193" "subst" "0" "02329" "ATP1A3_000001" "g.42482193G>A" "" "" "" "ATP1A3(NM_152296.5):c.1838C>T (p.T613M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969776" "0" "30" "19" "42486057" "42486057" "subst" "0.000219277" "02325" "ATP1A3_000158" "g.42486057C>T" "" "" "" "ATP1A3(NM_152296.5):c.1192+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969778" "0" "50" "19" "42492296" "42492296" "subst" "0.00347299" "01943" "ATP1A3_000075" "g.42492296G>C" "" "" "" "ATP1A3(NM_001256213.1):c.187-5C>G (p.?), ATP1A3(NM_001256214.1):c.193-5C>G, ATP1A3(NM_001256214.2):c.193-5C>G, ATP1A3(NM_152296.5):c.154-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983480" "0" "90" "19" "42474634" "42474634" "subst" "0" "01804" "ATP1A3_000082" "g.42474634G>A" "" "" "" "ATP1A3(NM_001256214.2):c.2363C>T (p.P788L), ATP1A3(NM_152296.5):c.2324C>T (p.(Pro775Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983481" "0" "50" "19" "42480623" "42480635" "del" "0" "01804" "ATP1A3_000159" "g.42480623_42480635del" "" "" "" "ATP1A3(NM_152296.5):c.2028_2040del (p.(Glu677Profs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983482" "0" "30" "19" "42485704" "42485704" "subst" "0.000487266" "01804" "ATP1A3_000134" "g.42485704G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1426C>T (p.R476C), ATP1A3(NM_152296.5):c.1387C>T (p.(Arg463Cys), p.R463C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983483" "0" "50" "19" "42485704" "42485704" "subst" "0.000487266" "02325" "ATP1A3_000134" "g.42485704G>A" "" "" "" "ATP1A3(NM_001256214.1):c.1426C>T (p.R476C), ATP1A3(NM_152296.5):c.1387C>T (p.(Arg463Cys), p.R463C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983484" "0" "30" "19" "42486635" "42486635" "subst" "0" "01804" "ATP1A3_000160" "g.42486635G>A" "" "" "" "ATP1A3(NM_152296.5):c.994-377C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983485" "0" "50" "19" "42489195" "42489195" "subst" "0" "01804" "ATP1A3_000161" "g.42489195C>T" "" "" "" "ATP1A3(NM_152296.5):c.868G>A (p.(Val290Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983486" "0" "50" "19" "42492156" "42492156" "subst" "0" "02329" "ATP1A3_000162" "g.42492156C>A" "" "" "" "ATP1A3(NM_001256214.2):c.328G>T (p.G110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983487" "0" "30" "19" "42492815" "42492815" "subst" "0" "01804" "ATP1A3_000163" "g.42492815C>T" "" "" "" "ATP1A3(NM_152296.5):c.7-101G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004804" "0" "30" "19" "42492731" "42492731" "subst" "4.46693E-5" "01804" "ATP1A3_000164" "g.42492731C>T" "" "" "" "ATP1A3(NM_001256214.1):c.29G>A (p.(Arg10His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004805" "0" "30" "19" "42503372" "42503372" "subst" "0" "01804" "ATP1A3_000165" "g.42503372C>T" "" "" "" "GRIK5(NM_002088.4):c.2594G>A (p.(Arg865Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015796" "0" "90" "19" "42474557" "42474557" "subst" "0" "02325" "ATP1A3_000004" "g.42474557C>A" "" "" "" "ATP1A3(NM_152296.5):c.2401G>T (p.D801Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015797" "0" "50" "19" "42492666" "42492666" "subst" "7.30911E-5" "02325" "ATP1A3_000076" "g.42492666G>A" "" "" "" "ATP1A3(NM_152296.5):c.55C>T (p.R19C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042987" "0" "70" "19" "42482439" "42482439" "subst" "0" "01804" "ATP1A3_000167" "g.42482439T>A" "" "" "" "ATP1A3(NM_152296.5):c.1670A>T (p.(Lys557Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042988" "0" "30" "19" "42492623" "42492623" "subst" "2.43637E-5" "01804" "ATP1A3_000168" "g.42492623C>T" "" "" "" "ATP1A3(NM_152296.5):c.93+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056677" "0" "70" "19" "42482319" "42482319" "subst" "0" "01804" "ATP1A3_000169" "g.42482319C>T" "" "" "" "ATP1A3(NM_152296.5):c.1790G>A (p.(Arg597His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056678" "0" "30" "19" "42492974" "42492974" "subst" "0" "01804" "ATP1A3_000170" "g.42492974C>T" "" "" "" "ATP1A3(NM_152296.5):c.7-260G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056679" "0" "50" "19" "42498348" "42498348" "subst" "0" "01804" "ATP1A3_000171" "g.42498348G>T" "" "" "" "ATP1A3(NM_152296.5):c.-120C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058465" "0" "90" "19" "42473708" "42473710" "del" "0" "00006" "ATP1A3_000172" "g.42473708_42473710del" "" "{PMID:Retterer 2016:26633542}" "" "2570_2572delTCT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41969556_41969558del" "" "pathogenic" "" "0001058466" "0" "90" "19" "42490319" "42490319" "subst" "0" "00006" "ATP1A3_000174" "g.42490319C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41986167C>A" "" "pathogenic" "" "0001058467" "0" "90" "19" "42474691" "42474691" "subst" "0" "00006" "ATP1A3_000047" "g.42474691C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41970539C>T" "" "pathogenic" "" "0001058468" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0001058469" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic" "" "0001058470" "0" "90" "19" "42474691" "42474691" "subst" "0" "00006" "ATP1A3_000047" "g.42474691C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41970539C>T" "" "pathogenic" "" "0001058471" "0" "90" "19" "42473002" "42473004" "del" "0" "00006" "ATP1A3_000035" "g.42473002_42473004del" "" "{PMID:Retterer 2016:26633542}" "" "2755_2757delGTC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41968850_41968852del" "" "pathogenic" "" "0001058472" "0" "90" "19" "42480621" "42480621" "subst" "0" "00006" "ATP1A3_000173" "g.42480621C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.41976469C>T" "" "pathogenic" "" "0001060711" "0" "50" "19" "42486116" "42486116" "subst" "0" "01164" "ATP1A3_000175" "g.42486116G>C" "" "" "" "" "ACMG/AMP: PM1-moderate,PM2-supporting,PP3-supporting" "Germline" "?" "" "" "" "" "g.41981964G>C" "" "VUS (!)" "ACMG" "0001061685" "0" "90" "19" "42472989" "42472989" "subst" "0" "00006" "ATP1A3_000009" "g.42472989C>T" "" "{PMID:Zech 2017:28849312}, {PMID:Zech 2020:33098801}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41968837C>T" "" "pathogenic (dominant)" "" "0001061700" "0" "90" "19" "42474436" "42474436" "subst" "0" "00006" "ATP1A3_000021" "g.42474436C>T" "" "{PMID:Zech 2017:28849312}, {PMID:Zech 2020:33098801}" "" "" "" "De novo" "" "" "0" "" "" "g.41970284C>T" "" "pathogenic (dominant)" "" "0001061701" "0" "90" "19" "42474557" "42474557" "subst" "0" "00006" "ATP1A3_000018" "g.42474557C>T" "" "{PMID:Zech 2020:33098801}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41970405C>T" "" "pathogenic (dominant)" "" "0001061733" "0" "90" "19" "42474454" "42474454" "subst" "0" "00006" "ATP1A3_000176" "g.42474454C>G" "" "{PMID:Zech 2020:33098801}" "" "" "ACMG PS2, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.41970302C>G" "" "pathogenic (dominant)" "ACMG" "0001061734" "0" "70" "19" "42492179" "42492179" "subst" "0" "00006" "ATP1A3_000177" "g.42492179C>G" "" "{PMID:Zech 2020:33098801}" "" "" "ACMG PS2, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.41988027C>G" "" "likely pathogenic (dominant)" "ACMG" ## 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 ATP1A3 ## Count = 328 "{{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}}" "0000019097" "00003060" "90" "1109" "0" "1109" "0" "c.1109C>A" "r.(?)" "p.(Thr370Asn)" "9" "0000079456" "00003060" "00" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0000079601" "00003060" "00" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Val322Ile)" "" "0000130140" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000247893" "00003060" "10" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.(Thr222=)" "" "0000249871" "00003060" "10" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.(Thr222=)" "" "0000253095" "00003060" "10" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.(Thr222=)" "" "0000253937" "00003060" "10" "994" "-20" "994" "-20" "c.994-20T>G" "r.(=)" "p.(=)" "" "0000259182" "00003060" "10" "207" "0" "207" "0" "c.207A>T" "r.(?)" "p.(Ala69=)" "" "0000259547" "00003060" "30" "1193" "-4" "1193" "-4" "c.1193-4C>G" "r.spl?" "p.?" "" "0000259548" "00003060" "30" "1303" "-15" "1303" "-15" "c.1303-15C>A" "r.(=)" "p.(=)" "" "0000259549" "00003060" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000259550" "00003060" "30" "1943" "12" "1943" "12" "c.1943+12A>T" "r.(=)" "p.(=)" "" "0000259551" "00003060" "30" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Pro829=)" "" "0000259552" "00003060" "30" "2493" "0" "2493" "0" "c.2493G>A" "r.(?)" "p.(Thr831=)" "" "0000259553" "00003060" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asn119=)" "" "0000259696" "00003060" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Glu677Lys)" "" "0000259697" "00003060" "50" "2840" "0" "2840" "0" "c.2840G>A" "r.(?)" "p.(Gly947Glu)" "" "0000259698" "00003060" "50" "2896" "0" "2896" "0" "c.2896G>T" "r.(?)" "p.(Val966Leu)" "" "0000259727" "00003060" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0000259783" "00003060" "90" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Cys)" "" "0000260245" "00003060" "90" "1787" "0" "1787" "0" "c.1787G>A" "r.(?)" "p.(Cys596Tyr)" "" "0000260246" "00003060" "30" "154" "-5" "154" "-5" "c.154-5C>G" "r.spl?" "p.?" "" "0000260247" "00003060" "30" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(Thr272=)" "" "0000261194" "00003060" "30" "154" "-5" "154" "-5" "c.154-5C>G" "r.spl?" "p.?" "" "0000263246" "00003060" "30" "1527" "0" "1527" "0" "c.1527C>T" "r.(?)" "p.(Ser509=)" "" "0000263249" "00003060" "30" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000263250" "00003060" "30" "2095" "-10" "2095" "-10" "c.2095-10C>T" "r.(=)" "p.(=)" "" "0000263252" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000263253" "00003060" "10" "207" "0" "207" "0" "c.207A>T" "r.(?)" "p.(Ala69=)" "" "0000263254" "00003060" "70" "2954" "0" "2956" "0" "c.2954_2956del" "r.(?)" "p.(Ser985_Phe986delinsIle)" "" "0000263255" "00003060" "70" "2915" "0" "2917" "0" "c.2915_2917del" "r.(?)" "p.(Pro972del)" "" "0000263256" "00003060" "30" "2989" "0" "2989" "0" "c.2989C>T" "r.(?)" "p.(Leu997Phe)" "" "0000263257" "00003060" "30" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(Thr272=)" "" "0000326534" "00003060" "50" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Thr331Ile)" "" "0000336841" "00003060" "10" "3081" "0" "3081" "0" "c.*39C>G" "r.(=)" "p.(=)" "" "0000336842" "00003060" "30" "994" "-20" "994" "-20" "c.994-20T>G" "r.(=)" "p.(=)" "" "0000338064" "00003060" "10" "2264" "-16" "2264" "-16" "c.2264-16C>T" "r.(=)" "p.(=)" "" "0000338065" "00003060" "30" "1943" "12" "1943" "12" "c.1943+12A>T" "r.(=)" "p.(=)" "" "0000339083" "00003060" "50" "1328" "0" "1333" "0" "c.1328_1333del" "r.(?)" "p.(Glu443_Ser444del)" "" "0000340060" "00003060" "10" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.(Thr222=)" "" "0000340061" "00003060" "30" "219" "0" "219" "0" "c.219G>A" "r.(?)" "p.(Pro73=)" "" "0000340651" "00003060" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000340937" "00003060" "10" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Pro829=)" "" "0000341028" "00003060" "30" "2652" "0" "2652" "0" "c.2652C>T" "r.(?)" "p.(Thr884=)" "" "0000341563" "00003060" "50" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Ala714Thr)" "" "0000342899" "00003060" "50" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Arg43Gln)" "" "0000343340" "00003060" "90" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Cys)" "" "0000344170" "00003060" "50" "193" "0" "193" "0" "c.193G>C" "r.(?)" "p.(Asp65His)" "" "0000344191" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000344988" "00003060" "50" "2552" "0" "2552" "0" "c.2552A>C" "r.(?)" "p.(Gln851Pro)" "" "0000345562" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000345994" "00003060" "70" "973" "0" "973" "0" "c.973G>C" "r.(?)" "p.(Gly325Arg)" "" "0000346186" "00003060" "50" "1822" "0" "1822" "0" "c.1822G>A" "r.(?)" "p.(Gly608Ser)" "" "0000346331" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "" "0000346798" "00003060" "50" "2273" "0" "2273" "0" "c.2273T>A" "r.(?)" "p.(Ile758Asn)" "" "0000346839" "00003060" "90" "298" "0" "298" "0" "c.298C>G" "r.(?)" "p.(Leu100Val)" "" "0000348575" "00003060" "70" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "0000348708" "00003060" "90" "410" "0" "410" "0" "c.410C>A" "r.(?)" "p.(Ser137Tyr)" "" "0000349402" "00003060" "10" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(Thr272=)" "" "0000349866" "00003060" "50" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Trp95Arg)" "" "0000349867" "00003060" "70" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Trp978Ter)" "" "0000350191" "00003060" "50" "2303" "0" "2303" "0" "c.2303A>G" "r.(?)" "p.(Tyr768Cys)" "" "0000359660" "00003060" "00" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359661" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>C" "r.(?)" "p.(Gly947Arg)" "" "0000359662" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "" "0000359663" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359664" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359665" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359666" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359667" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>C" "r.(?)" "p.(Gly947Arg)" "" "0000359668" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "" "0000359669" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359670" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359671" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359672" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359673" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359674" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359675" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359676" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "" "0000359677" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359678" "00003060" "90" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Asp805His)" "" "0000359679" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000359680" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359681" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359682" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359683" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000359684" "00003060" "90" "2403" "0" "2403" "0" "c.2403T>A" "r.(?)" "p.(Asp801Glu)" "" "0000359685" "00003060" "90" "2312" "0" "2312" "0" "c.2312C>A" "r.(?)" "p.(Thr771Asn)" "" "0000367758" "00003060" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" 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"p.(Gly947Arg)" "21" "0000367831" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "21" "0000367832" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "21" "0000367833" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>C" "r.(?)" "p.(Gly947Arg)" "21" "0000367834" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>C" "r.(?)" "p.(Gly947Arg)" "21" "0000367835" "00003060" "70" "2116" "0" "2116" "0" "c.2116G>A" "r.(?)" "p.(Gly706Arg)" "16" "0000367836" "00003060" "70" "2263" "0" "2263" "0" "c.2263G>T" "r.(?)" "p.(Gly755Cys)" "16" "0000367837" "00003060" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "17" "0000367838" "00003060" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "17" "0000367839" "00003060" "70" "2405" "0" "2405" "0" "c.2405T>C" "r.(?)" "p.(Leu802Pro)" "17" "0000367840" "00003060" "70" "2405" "0" "2405" "0" "c.2405T>C" "r.(?)" "p.(Leu802Pro)" "17" "0000367841" "00003060" "70" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Asp805His)" "17" "0000367842" "00003060" "70" "2423" "0" "2423" "0" "c.2423C>T" "r.(?)" "p.(Pro808Leu)" "18" "0000367843" "00003060" "70" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "18" "0000367844" "00003060" "70" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "18" "0000367845" "00003060" "70" "2516" "0" "2516" "0" "c.2516T>C" "r.(?)" "p.(Leu839Pro)" "18" "0000367846" "00003060" "70" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Gly893Arg)" "19" "0000367847" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "21" "0000367848" "00003060" "70" "2839" "0" "2839" "0" "c.2839G>C" "r.(?)" "p.(Gly947Arg)" "21" "0000367849" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "18" "0000368462" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000368479" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000368480" "00003060" "70" "1063" "0" "1065" "0" "c.1063_1065del" "r.(?)" "p.(Glu355del)" "" "0000368481" "00003060" "70" "2755" "0" "2757" "0" "c.2755_2757del" "r.(?)" "p.(Val919del)" "" "0000368482" "00003060" "70" "2974" "0" "2974" "0" "c.2974G>T" "r.(?)" "p.(Asp992Tyr)" "" "0000368483" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000368484" "00003060" "70" "2429" "0" "2429" "0" "c.2429T>C" "r.(?)" "p.(Ile810Thr)" "" "0000368485" "00003060" "90" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Asp923Asn)" "" "0000368486" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000368487" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000368488" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000404693" "00003060" "90" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ser137Phe)" "5" "0000455203" "00003060" "50" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Glu486Lys)" "" "0000455744" "00003060" "50" "2555" "0" "2555" "0" "c.2555C>G" "r.(?)" "p.(Ala852Gly)" "" "0000486677" "00003060" "70" "2479" "0" "2479" "0" "c.2479A>T" "r.(?)" "p.(Arg827Trp)" "" "0000486678" "00003060" "70" "2600" "0" "2600" "0" "c.2600G>T" "r.(?)" "p.(Gly867Val)" "" "0000567462" "00003060" "30" "3367" "0" "3367" "0" "c.*325A>C" "r.(=)" "p.(=)" "" "0000567463" "00003060" "70" "2974" "0" "2974" "0" "c.2974G>T" "r.(?)" "p.(Asp992Tyr)" "" "0000567464" "00003060" "10" "2649" "0" "2649" "0" "c.2649C>T" "r.(?)" "p.(Arg883=)" "" "0000567465" "00003060" "90" "2542" "2" "2542" "2" "c.2542+2T>C" "r.spl?" "p.?" "" "0000567466" "00003060" "30" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(Val835=)" "" "0000567467" "00003060" "30" "2493" "0" "2493" "0" "c.2493G>A" "r.(?)" "p.(Thr831=)" "" "0000567468" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0000567469" "00003060" "70" "2402" "0" "2402" "0" "c.2402A>G" "r.(?)" "p.(Asp801Gly)" "" "0000567470" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000567471" "00003060" "50" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "0000567472" "00003060" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0000567473" "00003060" "30" "2264" "-16" "2264" "-16" "c.2264-16C>T" "r.(=)" "p.(=)" "" "0000567474" "00003060" "10" "2264" "-16" "2264" "-16" "c.2264-16C>T" "r.(=)" "p.(=)" "" "0000567475" "00003060" "70" "2232" "0" "2232" "0" "c.2232C>A" "r.(?)" "p.(Asn744Lys)" "" "0000567476" "00003060" "30" "1944" "-20" "1944" "-20" "c.1944-20G>T" "r.(=)" "p.(=)" "" "0000567478" "00003060" "50" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Ala592Thr)" "" "0000567479" "00003060" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000567480" "00003060" "30" "1193" "-4" "1193" "-4" "c.1193-4C>G" "r.spl?" "p.?" "" "0000567481" "00003060" "30" "1192" "6" "1192" "6" "c.1192+6C>T" "r.(=)" "p.(=)" "" "0000567483" "00003060" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Thr335=)" "" "0000567484" "00003060" "10" "994" "-20" "994" "-20" "c.994-20T>G" "r.(=)" "p.(=)" "" "0000567486" "00003060" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ser295Phe)" "" "0000567487" "00003060" "50" "446" "0" "446" "0" "c.446A>G" "r.(?)" "p.(Glu149Gly)" "" "0000567488" "00003060" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asn119=)" "" "0000567489" "00003060" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asn119=)" "" "0000567490" "00003060" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Arg64Gln)" "" "0000567491" "00003060" "30" "18" "0" "18" "0" "c.18T>C" "r.(?)" "p.(Asp6=)" "" "0000617639" "00003060" "90" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Asp923Asn)" "" "0000617640" "00003060" "30" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(Ala813=)" "" "0000617641" "00003060" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Arg420=)" "" "0000617642" "00003060" "30" "1193" "-4" "1193" "-4" "c.1193-4C>G" "r.spl?" "p.?" "" "0000617643" "00003060" "70" "1076" "0" "1076" "0" "c.1076C>A" "r.(?)" "p.(Ser359Tyr)" "" "0000624012" "00003060" "30" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Pro829=)" "" "0000624013" "00003060" "30" "1943" "12" "1943" "12" "c.1943+12A>T" "r.(=)" "p.(=)" "" "0000624014" "00003060" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000649998" "00003060" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Gly325Asp)" "" "0000658580" "00003060" "30" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.(Pro471=)" "" "0000658581" "00003060" "50" "994" "-3" "994" "-3" "c.994-3C>G" "r.spl?" "p.?" "" "0000658582" "00003060" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230Gln)" "" "0000667489" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000667490" "00003060" "70" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Glu324Gly)" "" "0000681422" "00003060" "30" "1192" "6" "1192" "6" "c.1192+6C>T" "r.(=)" "p.(=)" "" "0000681423" "00003060" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Tyr121=)" "" "0000681424" "00003060" "30" "7" "-5" "7" "-5" "c.7-5C>T" "r.spl?" "p.?" "" "0000685825" "00003060" "50" "56" "0" "56" "0" "c.56G>A" "r.(?)" "p.(Arg19His)" "" "0000692799" "00003060" "30" "2418" "9" "2418" "9" "c.2418+9T>A" "r.(=)" "p.(=)" "" "0000692800" "00003060" "30" "1605" "0" "1605" "0" "c.1605C>T" "r.(?)" "p.(Leu535=)" "" "0000692801" "00003060" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000692802" "00003060" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(His388=)" "" "0000692803" "00003060" "30" "1164" "0" "1164" "0" "c.1164C>A" "r.(?)" "p.(His388Gln)" "" "0000692804" "00003060" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Lys339=)" "" "0000692805" "00003060" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Val319Met)" "" "0000692806" "00003060" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Asn119=)" "" "0000727388" "00003060" "30" "2419" "-6" "2419" "-6" "c.2419-6G>A" "r.(=)" "p.(=)" "" "0000727389" "00003060" "70" "1073" "0" "1073" "0" "c.1073G>T" "r.(?)" "p.(Gly358Val)" "" "0000727390" "00003060" "30" "816" "0" "816" "0" "c.816G>A" "r.(?)" "p.(Thr272=)" "" "0000727391" "00003060" "10" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Tyr121=)" "" "0000760533" "00003060" "90" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Val322Asp)" "" "0000760623" "00003060" "90" "821" "0" "821" "0" "c.821T>A" "r.(?)" "p.(Ile274Asn)" "" "0000760628" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000760630" "00003060" "90" "1012" "0" "1012" "0" "c.1012G>C" "r.(?)" "p.(Ala338Pro)" "" "0000760633" "00003060" "90" "1765" "0" "1765" "0" "c.1765G>T" "r.(?)" "p.(Val589Phe)" "" "0000760635" "00003060" "90" "2227" "0" "2227" "0" "c.2227G>C" "r.(?)" "p.(Asp743His)" "" "0000760637" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000760638" "00003060" "90" "2663" "0" "2663" "0" "c.2663T>C" "r.(?)" "p.(Leu888Pro)" "" "0000760640" "00003060" "90" "1109" "0" "1109" "0" "c.1109C>A" "r.(?)" "p.(Thr370Asn)" "" "0000764188" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0000786760" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "17" "0000786761" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "17" "0000786762" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "17" "0000786763" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "18" "0000786764" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "21" "0000786765" "00003060" "90" "2839" "0" "2839" "0" "c.2839G>A" "r.(?)" "p.(Gly947Arg)" "21" "0000808891" "00003060" "30" "1943" "12" "1943" "12" "c.1943+12A>T" "r.(=)" "p.(=)" "" "0000808892" "00003060" "50" "1472" "0" "1472" "0" "c.1472A>G" "r.(?)" "p.(Asn491Ser)" "" "0000808893" "00003060" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Leu303=)" "" "0000817750" "00003060" "70" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000855596" "00003060" "30" "2357" "0" "2357" "0" "c.2357C>T" "r.(?)" "p.(Ala786Val)" "" "0000855597" "00003060" "30" "2094" "9" "2094" "9" "c.2094+9C>T" "r.(=)" "p.(=)" "" "0000855598" "00003060" "70" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Pro156Leu)" "" "0000855599" "00003060" "30" "6" "3" "6" "3" "c.6+3A>G" "r.spl?" "p.?" "" "0000866144" "00003060" "10" "2487" "0" "2487" "0" "c.2487G>A" "r.(?)" "p.(Pro829=)" "" "0000866145" "00003060" "10" "2264" "-16" "2264" "-16" "c.2264-16C>T" "r.(=)" "p.(=)" "" "0000866146" "00003060" "30" "1943" "12" "1943" "12" "c.1943+12A>T" "r.(=)" "p.(=)" "" "0000866147" "00003060" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Ala441=)" "" "0000866148" "00003060" "30" "994" "-20" "994" "-20" "c.994-20T>G" "r.(=)" "p.(=)" "" "0000866149" "00003060" "30" "154" "-5" "154" "-5" "c.154-5C>G" "r.spl?" "p.?" "" "0000881123" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000904791" "00003060" "70" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Ile282Leu)" "" "0000908884" "00003060" "70" "2689" "-1" "2689" "-1" "c.2689-1G>T" "r.[2688_2689ins[2688+1_2689-2;u],2689_2700del]" "p.[Thr897Valfs*119,Thr897_Gln900del]" "" "0000915240" "00003060" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Cys)" "" "0000915241" "00003060" "30" "94" "-16" "94" "-16" "c.94-16A>C" "r.(=)" "p.(=)" "" "0000936433" "00003060" "70" "1765" "0" "1765" "0" "c.1765G>T" "r.(?)" "p.(Val589Phe)" "" "0000951305" "00003060" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(His280Tyr)" "" "0000959512" "00003060" "70" "2407" "0" "2407" "0" "c.2407G>T" "r.(?)" "p.(Gly803Cys)" "" "0000960161" "00003060" "90" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000969774" "00003060" "30" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(=)" "" "0000969775" "00003060" "90" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "" "0000969776" "00003060" "30" "1192" "3" "1192" "3" "c.1192+3G>A" "r.spl?" "p.?" "" "0000969778" "00003060" "50" "154" "-5" "154" "-5" "c.154-5C>G" "r.spl?" "p.?" "" "0000983480" "00003060" "90" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "0000983481" "00003060" "50" "2028" "0" "2040" "0" "c.2028_2040del" "r.(?)" "p.(Glu677Profs*24)" "" "0000983482" "00003060" "30" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000983483" "00003060" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463Cys)" "" "0000983484" "00003060" "30" "994" "-377" "994" "-377" "c.994-377C>T" "r.(=)" "p.(=)" "" "0000983485" "00003060" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Val290Ile)" "" "0000983486" "00003060" "50" "289" "0" "289" "0" "c.289G>T" "r.(?)" "p.(Gly97Trp)" "" "0000983487" "00003060" "30" "7" "-101" "7" "-101" "c.7-101G>A" "r.(=)" "p.(=)" "" "0001004804" "00003060" "30" "7" "-17" "7" "-17" "c.7-17G>A" "r.(=)" "p.(=)" "" "0001004805" "00003060" "30" "-5144" "0" "-5144" "0" "c.-5144G>A" "r.(?)" "p.(=)" "" "0001015796" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>T" "r.(?)" "p.(Asp801Tyr)" "" "0001015797" "00003060" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Cys)" "" "0001042987" "00003060" "70" "1670" "0" "1670" "0" "c.1670A>T" "r.(?)" "p.(Lys557Met)" "" "0001042988" "00003060" "30" "93" "5" "93" "5" "c.93+5G>A" "r.spl?" "p.?" "" "0001056677" "00003060" "70" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Arg597His)" "" "0001056678" "00003060" "30" "7" "-260" "7" "-260" "c.7-260G>A" "r.(=)" "p.(=)" "" "0001056679" "00003060" "50" "-120" "0" "-120" "0" "c.-120C>A" "r.(?)" "p.(=)" "" "0001058465" "00003060" "90" "2570" "0" "2572" "0" "c.2570_2572del" "r.(?)" "p.(Phe857del)" "" "0001058466" "00003060" "90" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Gln140His)" "" "0001058467" "00003060" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0001058468" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0001058469" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0001058470" "00003060" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Arg756His)" "" "0001058471" "00003060" "90" "2755" "0" "2757" "0" "c.2755_2757del" "r.(?)" "p.(Val919del)" "" "0001058472" "00003060" "90" "2041" "0" "2041" "0" "c.2041G>A" "r.(?)" "p.(Ala681Thr)" "" "0001060711" "00003060" "50" "1136" "0" "1136" "0" "c.1136C>G" "r.(?)" "p.(Ala379Gly)" "9" "0001061685" "00003060" "90" "2767" "0" "2767" "0" "c.2767G>A" "r.(?)" "p.(Asp923Asn)" "" "0001061700" "00003060" "90" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Glu815Lys)" "" "0001061701" "00003060" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" "" "0001061733" "00003060" "90" "2425" "0" "2425" "0" "c.2425G>C" "r.(?)" "p.(Ala809Pro)" "" "0001061734" "00003060" "70" "266" "0" "266" "0" "c.266G>C" "r.(?)" "p.(Gly89Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 179 "{{screeningid}}" "{{variantid}}" "0000001372" "0000019097" "0000050476" "0000079456" "0000050621" "0000079601" "0000081054" "0000130140" "0000156619" "0000359660" "0000156620" "0000359661" "0000156621" "0000359662" "0000156622" "0000359663" "0000156623" "0000359664" "0000156624" "0000359665" "0000156625" "0000359666" "0000156626" "0000359667" "0000156627" "0000359668" "0000163872" "0000359669" "0000163873" "0000359670" "0000163874" "0000359671" "0000163875" "0000359672" "0000163876" "0000359673" "0000163877" "0000359674" "0000163878" "0000359675" "0000163879" "0000359676" "0000163880" "0000359677" "0000163881" "0000359678" "0000163882" "0000359679" "0000163883" "0000359680" "0000163884" "0000359681" "0000163885" "0000359682" "0000163886" "0000359683" "0000163887" "0000359684" "0000163888" "0000359685" "0000164516" "0000367758" "0000164517" "0000367759" "0000164518" "0000367760" "0000164519" "0000367761" "0000164520" "0000367762" "0000164521" "0000367763" "0000164522" "0000367764" "0000164523" "0000367765" "0000164524" "0000367766" "0000164525" "0000367767" "0000164526" "0000367768" "0000164527" "0000367769" "0000164528" "0000367770" "0000164529" "0000367771" "0000164530" "0000367772" "0000164531" "0000367773" "0000164532" "0000367774" "0000164533" "0000367775" "0000164534" "0000367776" "0000164535" "0000367777" "0000164536" "0000367778" "0000164537" "0000367779" "0000164538" "0000367780" "0000164539" "0000367781" "0000164540" "0000367782" "0000164541" "0000367783" "0000164542" "0000367784" "0000164543" "0000367785" "0000164544" "0000367786" "0000164545" "0000367787" "0000164546" "0000367788" "0000164547" "0000367789" "0000164548" "0000367790" "0000164549" "0000367791" "0000164550" "0000367792" "0000164551" "0000367793" "0000164552" "0000367794" "0000164553" "0000367795" "0000164554" "0000367796" "0000164555" "0000367797" "0000164556" "0000367798" "0000164557" "0000367799" "0000164558" "0000367800" "0000164559" "0000367801" "0000164560" "0000367802" "0000164561" "0000367803" "0000164562" "0000367804" "0000164563" "0000367805" "0000164564" "0000367806" "0000164565" "0000367807" "0000164566" "0000367808" "0000164567" "0000367809" "0000164568" "0000367810" "0000164569" "0000367811" "0000164570" "0000367812" "0000164571" "0000367813" "0000164572" "0000367814" "0000164573" "0000367815" "0000164574" "0000367816" "0000164575" "0000367817" "0000164576" "0000367818" "0000164577" "0000367819" "0000164578" "0000367820" "0000164579" "0000367821" "0000164580" "0000367822" "0000164581" "0000367823" "0000164582" "0000367824" "0000164583" "0000367825" "0000164584" "0000367826" "0000164585" "0000367827" "0000164586" "0000367828" "0000164587" "0000367829" "0000164588" "0000367830" "0000164589" "0000367831" "0000164590" "0000367832" "0000164591" "0000367833" "0000164592" "0000367834" "0000164593" "0000367835" "0000164594" "0000367836" "0000164595" "0000367837" "0000164596" "0000367838" "0000164597" "0000367839" "0000164598" "0000367840" "0000164599" "0000367841" "0000164600" "0000367842" "0000164601" "0000367843" "0000164602" "0000367844" "0000164603" "0000367845" "0000164604" "0000367846" "0000164605" "0000367847" "0000164606" "0000367848" "0000164607" "0000367849" "0000164849" "0000368462" "0000164865" "0000368479" "0000164866" "0000368480" "0000164867" "0000368481" "0000164868" "0000368482" "0000164869" "0000368483" "0000164870" "0000368484" "0000164871" "0000368485" "0000164872" "0000368486" "0000164873" "0000368487" "0000164874" "0000368488" "0000181057" "0000404693" "0000220250" "0000455203" "0000223974" "0000455744" "0000240895" "0000486677" "0000240896" "0000486678" "0000293309" "0000649998" "0000304091" "0000667489" "0000304092" "0000667490" "0000310808" "0000685825" "0000328244" "0000960161" "0000360510" "0000760630" "0000360512" "0000760533" "0000360582" "0000760623" "0000360585" "0000760628" "0000360592" "0000760633" "0000360594" "0000760635" "0000360596" "0000760637" "0000360597" "0000760638" "0000360599" "0000760640" "0000363494" "0000764188" "0000375409" "0000786760" "0000375410" "0000786761" "0000375411" "0000786762" "0000375412" "0000786763" "0000375413" "0000786764" "0000375414" "0000786765" "0000388957" "0000817750" "0000420764" "0000881123" "0000427431" "0000904791" "0000429411" "0000908884" "0000440138" "0000936433" "0000449307" "0000959512" "0000470343" "0001058465" "0000470344" "0001058466" "0000470345" "0001058467" "0000470346" "0001058468" "0000470347" "0001058469" "0000470348" "0001058470" "0000470349" "0001058471" "0000470350" "0001058472" "0000472296" "0001060711" "0000472941" "0001061685" "0000472956" "0001061700" "0000472957" "0001061701" "0000472989" "0001061733" "0000472990" "0001061734"