### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SH3TC2) # 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}}" "SH3TC2" "SH3 domain and tetratricopeptide repeats 2" "5" "q32" "unknown" "LRG_269" "UD_132118253155" "" "https://www.LOVD.nl/SH3TC2" "" "1" "29427" "79628" "608206" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/SH3TC2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-23 19:26:12" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018860" "SH3TC2" "SH3 domain and tetratricopeptide repeats 2" "001" "NM_024577.3" "" "NP_078853.2" "" "" "" "-152" "26428" "3867" "148442737" "148361713" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00370" "CMT4C" "Charcot-Marie-Tooth disease, type 4C (CMT-4C)" "AR" "601596" "" "autosomal recessive" "" "00006" "2014-04-16 23:26:28" "00006" "2021-12-10 21:51:32" "03316" "MNMN" "mononeuropathy of the median nerve, mild (MNMN)" "AD" "613353" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05156" "CMT1" "Charcot-Marie-Tooth disease, type I (CMT-1)" "" "" "" "" "" "00006" "2016-04-15 10:17:45" "00006" "2021-12-11 13:56:28" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SH3TC2" "00370" "SH3TC2" "03316" ## Individuals ## Do not remove or alter this header ## ## Count = 119 "{{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}}" "00016423" "" "" "" "1" "" "00696" "" "" "F" "yes" "Libya" "" "0" "" "" "" "" "00037079" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037080" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037081" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037082" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037083" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037084" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037085" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00144430" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00145074" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145075" "" "" "" "1" "" "00006" "{PMID:Azzedine 2006:16924012}" "" "" "" "" "" "0" "" "" "" "" "00145076" "" "" "" "1" "" "00006" "{PMID:Lupski 2010:20220177}" "" "" "" "" "" "0" "" "" "" "" "00145077" "" "" "" "1" "" "00006" "{PMID:Lassuthova 2011:21291453}" "" "" "" "" "" "0" "" "" "" "" "00145078" "" "" "" "1" "" "00006" "{PMID:Lassuthova 2011:21291453}" "" "" "" "" "" "0" "" "" "" "" "00145079" "" "" "" "1" "" "00006" "{PMID:Azzedine 2006:16924012}" "" "" "" "" "" "0" "" "" "" "" "00145080" "" "" "" "1" "" "00006" "{PMID:Lassuthova 2011:21291453}" "" "" "" "" "" "0" "" "" "" "" "00145081" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145082" "" "" "" "1" "" "00006" "{PMID:Fischer 2011:21892769}" "" "" "" "" "" "0" "" "" "" "" "00145083" "" "" "" "1" "" "00006" "{PMID:Lupo 2009:19744956}" "" "" "" "" "" "0" "" "" "" "" "00145084" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145085" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145086" "" "" "" "1" "" "00006" "{PMID:Roberts 2010:20028792}" "" "" "" "" "" "0" "" "" "" "" "00145087" "" "" "" "1" "" "00006" "{PMID:Azzedine 2006:16924012}" "" "" "" "" "" "0" "" "" "" "" "00145088" "" "" "" "1" "" "00006" "{PMID:Claramunt 2007:17470135}" "" "" "" "" "" "0" "" "" "" "" "00145089" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145090" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" "" "00145091" "" "" "" "1" "" "00006" "{PMID:Azzedine 2006:16924012}" "" "" "" "" "" "0" "" "" "" "" "00145092" "" "" "" "1" "" "00006" "{PMID:Azzedine 2006:16924012}" "" "" "" "" "" "0" "" "" "" "" "00145093" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145094" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145095" "" "" "" "1" "" "00006" "{PMID:Lupo 2009:19744956}" "" "" "" "" "" "0" "" "" "" "" "00145096" "" "" "" "1" "" "00006" "{PMID:Gooding 2005:16326826}" "" "" "" "" "" "0" "" "" "" "" "00145097" "" "" "" "1" "" "00006" "{PMID:Roberts 2010:20028792}" "" "" "" "" "" "0" "" "" "" "" "00145098" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145099" "" "" "" "1" "" "00006" "{PMID:Senderek 2003:14574644}" "" "" "" "" "" "0" "" "" "" "" "00145100" "" "" "" "1" "" "00006" "{PMID:Lassuthova 2011:21291453}" "" "" "" "" "" "0" "" "" "" "" "00207404" "" "" "" "1" "" "01164" "" "" "F" "yes" "Turkey" "" "0" "" "" "" "111314" "00207578" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "29y" "0" "" "" "" "" "00207579" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "29y" "0" "" "" "" "" "00207580" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "68y" "0" "" "" "" "" "00207581" "" "" "" "1" "" "02371" "" "" "F" "no" "France" "71y" "0" "" "" "" "" "00207582" "" "" "" "1" "" "02371" "" "" "M" "no" "France" "83y" "0" "" "" "" "" "00208528" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208532" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00208547" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210010" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00219078" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat88" "00219079" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat89" "00219080" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat90" "00219081" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat91" "00219082" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat92" "00219083" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat93" "00266170" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00293779" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293780" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293781" "" "" "" "211" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293782" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293783" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293784" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293785" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293786" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293787" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293788" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293789" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295912" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295991" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296562" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300027" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-a" "00300028" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-a" "00300029" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300096" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300097" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300098" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00300099" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-a" "00300112" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-b" "00300114" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat15" "00300127" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat16" "00300128" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-b" "00300134" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-b" "00300144" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-c" "00300153" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-d" "00300157" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-e" "00300160" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-f" "00300161" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-g" "00300162" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-h" "00300163" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-i" "00300164" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-j" "00300165" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-k" "00300166" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-l" "00300167" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-SH3TC2-m" "00305018" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311036" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00374369" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-246" "00374488" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1739" "00374489" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3102" "00396030" "" "" "" "3" "" "00006" "{PMID:Ababneh 2021:34624274}" "4-generation family, affected 2 brothers/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "FM-08" "00397779" "" "" "" "1" "" "04212" "{PMID:Kanwal 2021:34193129}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" ">06y" "0" "" "" "" "PaC2:IV-1" "00397836" "" "" "" "1" "" "04212" "{PMID:Kanwal 2021:34193129}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" ">10y" "0" "" "" "" "PaC3:IV-1" "00398040" "" "" "" "1" "" "04209" "{PMID:Lee 2019:31227790}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Korea" "" "0" "" "" "Korea" "FC523" "00398059" "" "" "" "1" "" "04209" "{PMID:Lee 2019:31227790}" "3-generation family, 1 affected, unaffected heterozygous carrier mother/sister/daughter" "M" "no" "Korea" "" "0" "" "" "Korea" "FC657" "00398206" "" "" "" "1" "" "04209" "{PMID:Lee 2019:31227790}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "Korea" "FC703" "00398207" "" "" "" "1" "" "04209" "{PMID:Lee 2019:31227790}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "Korea" "" "0" "" "" "Korea" "FC1080" "00398667" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 1 affected, both parents are unaffected heterozygote carriers. In the article, the individual ID is given as 1251 and 125." "M" "" "Italy" ">45y" "" "" "" "" "1251" "00398981" "" "" "" "1" "" "04209" "{PMID:Zhao 2018:29336362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "China" "Fam20198PatII1" "00398983" "" "" "" "1" "" "04209" "{PMID:Zhao 2018:29336362}" "2-generation family, 1 affected, unaffected parents" "M" "no" "China" "" "0" "" "" "China" "Fam13979PatII1" "00399118" "" "" "" "2" "" "04209" "{PMID:Zhao 2018:29336362}" "2-generation family, 2 affected (father and daughter)" "F" "yes" "China" "" "0" "" "" "China" "Fam20856PatII1" "00403814" "" "" "" "1" "" "00435" "" "" "F" "yes" "Egypt" "" "0" "" "" "" "" "00403899" "" "" "" "3" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00403900" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00403906" "" "" "" "2" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" "00408681" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat01" "00408686" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat56" "00408945" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "VIII" "00408951" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XVII" "00408954" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "M" "" "France" "" "0" "" "" "French" "XX" "00408956" "" "" "" "1" "" "00000" "{PMID:Lerat-2019:31393079}" "" "F" "" "France" "" "0" "" "" "French" "XXIV" "00440446" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED1540.1" "00442789" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat161" "00469357" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 109 "{{individualid}}" "{{diseaseid}}" "00016423" "00112" "00037079" "05113" "00037080" "00198" "00144430" "00198" "00145074" "05113" "00145075" "05113" "00145076" "05156" "00145077" "05113" "00145078" "05113" "00145079" "05113" "00145080" "05113" "00145081" "05113" "00145082" "05156" "00145083" "05113" "00145084" "05113" "00145085" "05113" "00145086" "05113" "00145087" "05113" "00145088" "05113" "00145089" "05113" "00145090" "05157" "00145091" "05113" "00145092" "05113" "00145093" "05113" "00145094" "05113" "00145095" "05113" "00145096" "05113" "00145097" "05113" "00145098" "05113" "00145099" "05113" "00145100" "05113" "00207404" "05104" "00207578" "00370" "00207579" "05113" "00207580" "05113" "00207581" "05113" "00207582" "05113" "00219078" "05113" "00219079" "05113" "00219080" "05113" "00219081" "05113" "00219082" "05113" "00219083" "05113" "00293779" "00198" "00293780" "00198" "00293781" "00198" "00293782" "00198" "00293783" "00198" "00293784" "00198" "00293785" "00198" "00293786" "00198" "00293787" "00198" "00293788" "00198" "00293789" "00198" "00295912" "00198" "00295991" "00198" "00296562" "00198" "00300027" "05113" "00300028" "05113" "00300029" "05113" "00300096" "05113" "00300097" "00199" "00300098" "05113" "00300099" "05113" "00300112" "05113" "00300114" "05384" "00300127" "00199" "00300128" "05113" "00300134" "05113" "00300144" "05113" "00300153" "05113" "00300157" "05113" "00300160" "05113" "00300161" "05113" "00300162" "05113" "00300163" "05113" "00300164" "05113" "00300165" "05113" "00300166" "05113" "00300167" "05113" "00305018" "00198" "00311036" "00198" "00374369" "00198" "00374488" "00198" "00374489" "00198" "00396030" "05618" "00397779" "05113" "00397836" "05113" "00398040" "05113" "00398059" "05113" "00398206" "05113" "00398207" "05113" "00398667" "00370" "00398981" "05113" "00398983" "05113" "00399118" "05113" "00403814" "00370" "00403899" "00370" "00403900" "00370" "00403906" "00370" "00408681" "05618" "00408686" "05618" "00408945" "04214" "00408951" "04214" "00408954" "04214" "00408956" "04214" "00440446" "00198" "00442789" "05618" "00469357" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00199, 00370, 03316, 04214, 05104, 05113, 05156, 05157, 05384, 05618 ## Count = 101 "{{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}}" "0000015025" "00112" "00016423" "00696" "Familial, autosomal recessive" "" "ataxia, retinal dystrophy, neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000117198" "00198" "00144430" "01807" "Unknown" "" "HP:0007178 (Motor polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000117814" "05113" "00145074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117815" "05113" "00145075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117816" "05156" "00145076" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease, type I (CMT-1)" "" "0000117817" "05113" "00145077" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117818" "05113" "00145078" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117819" "05113" "00145079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117820" "05113" "00145080" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117821" "05113" "00145081" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117822" "05156" "00145082" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease, type I (CMT-1)" "" "0000117823" "05113" "00145083" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117824" "05113" "00145084" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117825" "05113" "00145085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117826" "05113" "00145086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117827" "05113" "00145087" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117828" "05113" "00145088" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117829" "05113" "00145089" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117830" "05157" "00145090" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "0000117831" "05113" "00145091" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117832" "05113" "00145092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117833" "05113" "00145093" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117834" "05113" "00145094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117835" "05113" "00145095" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117836" "05113" "00145096" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117837" "05113" "00145097" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117838" "05113" "00145098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117839" "05113" "00145099" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000117840" "05113" "00145100" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000155175" "05104" "00207404" "01164" "Familial, autosomal recessive" "21y" "demyelinating axonal neuropathy" "" "" "" "" "" "" "" "" "" "23y" "" "0000155389" "00370" "00207578" "02371" "Familial, autosomal recessive" "" "sensori-motor demyelinating neuropathy in the lower limbs, scoliosis" "06y" "29y" "?" "SH3TC2" "" "" "" "" "" "" "" "0000155390" "05113" "00207579" "02371" "Familial, autosomal recessive" "29y" "sensori-motor demyelinating neuropathy in the lower limbs, scoliosis" "06y" "29y" "?" "SH3TC2" "" "" "" "" "CMT4C" "" "" "0000155391" "05113" "00207580" "02371" "Familial, autosomal recessive" "68y" "sensori-motor demyelinating neuropathy, scoliosis, hearing loss" "09y" "60y" "60y" "SH3TC2" "" "" "" "" "CMT4C" "cmt" "" "0000155392" "05113" "00207581" "02371" "Familial, autosomal recessive" "71y" "sensori-motor demyelinating neuropathy in the lower limbs, scolisis, hearing loss" "10y" "" "45y" "SH3TC2" "" "" "" "" "CMT4C" "cmt" "" "0000155393" "05113" "00207582" "02371" "Familial, autosomal recessive" "83y" "sensori-motor demyelinating neuropathy and hearing loss" "" "73y" "" "" "" "" "" "" "CMT4C" "cmt" "" "0000156807" "05113" "00037079" "01164" "Unknown" "" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth disease (CMT)" "" "0000156808" "00198" "00037080" "01164" "Unknown" "" "developmental retardation, autistic features; 1 older sister is also retarded with learning disorder" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000157203" "00198" "00208528" "01164" "Unknown" "" "HP:0000759 (Abnormal peripheral nervous system morphology); HP:0001271 (Polyneuropathy)" "" "" "" "" "" "" "" "" "" "" "" "0000157206" "00198" "00208532" "01164" "Unknown" "" "HP:0040036 (Onychogryposis of fingernail)" "" "" "" "" "" "" "" "" "" "" "" "0000157219" "00198" "00208547" "01164" "Unknown" "" "HP:0001761 (Pes cavus)" "" "" "" "" "" "" "" "" "" "" "" "0000158605" "00198" "00210010" "01164" "Unknown" "" "HP:0002460 (Distal muscle weakness)" "" "" "" "" "" "" "" "" "" "" "" "0000167635" "05113" "00219078" "00006" "Familial, autosomal recessive" "" "CMT4C" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000167636" "05113" "00219079" "00006" "Unknown" "" "CMT4C; no family history" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000167637" "05113" "00219080" "00006" "Unknown" "" "CMT4C; no family history" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000167638" "05113" "00219081" "00006" "Unknown" "" "CMT4C; no family history" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000167639" "05113" "00219082" "00006" "Unknown" "" "CMT4C; no family history" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000167640" "05113" "00219083" "00006" "Unknown" "" "CMT4C" "" "" "" "" "" "" "" "" "CMT-4C" "Charcot-Marie-Tooth diseae" "" "0000203946" "00198" "00266170" "01164" "Unknown" "" "Respiratory insufficiency (HP:0002093); Tetraplegia (HP:0002445); Acute demyelinating polyneuropathy (HP:0007131)" "" "" "" "" "" "" "" "" "" "" "" "0000223388" "00198" "00295912" "01164" "Unknown" "" "Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324); Scoliosis (HP:0002650); Abnormal peripheral nervous system morphology (HP:0000759)" "" "" "" "" "" "" "" "" "" "" "" "0000223458" "00198" "00295991" "01164" "Unknown" "" "Abnormal peripheral nervous system morphology (HP:0000759); Sensory neuropathy (HP:0000763)" "" "" "" "" "" "" "" "" "" "" "" "0000223968" "00198" "00296562" "01164" "Unknown" "" "Mixed demyelinating and axonal polyneuropathy (HP:0007327)" "" "" "" "" "" "" "" "" "" "" "" "0000227348" "05113" "00300027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227349" "05113" "00300028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227350" "05113" "00300029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227417" "05113" "00300096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227418" "00199" "00300097" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227419" "05113" "00300098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227420" "05113" "00300099" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227433" "05113" "00300112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227435" "05384" "00300114" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000227448" "00199" "00300127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227449" "05113" "00300128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227455" "05113" "00300134" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227465" "05113" "00300144" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227474" "05113" "00300153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227478" "05113" "00300157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227481" "05113" "00300160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227482" "05113" "00300161" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227483" "05113" "00300162" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227484" "05113" "00300163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227485" "05113" "00300164" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227486" "05113" "00300165" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227487" "05113" "00300166" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227488" "05113" "00300167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000236300" "00198" "00311036" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Motor delay (HP:0001270); Neurodevelopmental abnormality (HP:0012759); Gait disturbance (HP:0001288); Pes cavus (HP:0001761); Abnormality of the lower limb (HP:0002814); Demyelinating peripheral neuropathy (HP:0007108); Peripheral neuropathy (HP:0009830)" "" "" "" "" "" "" "" "" "" "" "" "0000269579" "00198" "00374369" "00006" "Familial, autosomal recessive" "" "Developmental delay, inability to walk or sit without support, pigmented sparse hair, hypotonia and pyloric stenosis" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269698" "00198" "00374488" "00006" "Familial, autosomal recessive" "" "Neuropathy and myopathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269699" "00198" "00374489" "00006" "Familial, autosomal recessive" "" "Delayed motor development, abnormal gait, scoliosis and poor scholastic performance" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000289193" "05618" "00396030" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RS1" "CMT" "" "0000290906" "05113" "00397779" "04212" "Familial, autosomal recessive" "06y" "Full term pregnancy, delayed motor development (HP:0001270); 3y-falls frequently (HP:0002359); impaired vibration sensation (HP:0006886); absent deep tendon reflexes (HP:0001284); scoliosis (HP:0002650); feet disformities; sensory loss (HP:0002936)" "03y" "" "" "" "" "" "" "" "CMT4C" "Charcot-Marie-Tooth disease" "" "0000290963" "05113" "00397836" "04212" "Familial, autosomal recessive" "10y" "3y-falls frequently (HP:0002359); difficultu standing from sitting position (HP:0003698); scoliosis (HP:0002650); short statur (HP:0004322); difficulty walking, but unaided (HP:0002355); low distal CMAP amplitudes of median and peroneal nerves were absent; ulnar and tibial nerves were decreased; decreased motor NCV (HP:0003431); decreased nerve NCV(HP:0003448); feet disformities; sensory loss (HP:0002936)" "03y" "" "3y-falls frequently (HP:0002359)" "" "" "" "" "" "CMT4C" "Charcot-Marie-Tooth disease" "" "0000291669" "05113" "00398040" "04209" "Familial, autosomal recessive" "53y" "Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Lower limb amyotrophy (HP:0007210), Scoliosis (HP:0002650), Areflexia (HP:0001284)" "30y" "" "" "" "" "" "" "" "CMT4C" "Charcot-Marie-Tooth disease" "" "0000291670" "05113" "00398059" "04209" "Familial, autosomal recessive" "52y" "see paper; walking difficulties (HP:0002355), pes cavus (HP:0001761), hearing impairment (HP:0000365), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340), diplopia (HP:0000651), facial palsy (HP:0010628), lower limb amyotrophy (HP:0007210), no pyramidal signs (-HP:0002650), areflexia (HP:0001284)" "38y" "" "" "" "" "" "" "" "CMT4C" "Charcot-Marie-Tooth disease" "" "0000291671" "05113" "00398206" "04209" "Familial, autosomal recessive" "16y" "see paper; Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Hearing impairment (HP:0000365), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), no pyramidal signs (-HP:0000651), no pyramidal signs (-HP:0010628), Lower limb amyotrophy (HP:0007210), scoliosis (HP:0002650), Areflexia (HP:0001284), Abnormal myelination (HP:0012447)" "10y" "" "" "" "" "" "" "" "CMT4C" "Charcot-Marie-Tooth disease" "" "0000291672" "05113" "00398207" "04209" "Familial, autosomal recessive" "25y" "see paper; Walking difficulties (HP:0002355), Pes cavus (HP:0001761), Hearing impairment (HP:0000365), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), diplopia (HP:0000651), no pyramidal signs (-HP:0010628), Lower limb amyotrophy (HP:0007210), scoliosis (HP:0002650), Areflexia (HP:0001284)" "08y" "" "" "" "" "" "" "" "CMT-C" "Charcot-Marie-Tooth disease" "" "0000291750" "00370" "00398667" "04188" "Familial, autosomal recessive" "45y" "Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762)" "20y" "" "Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762)" "" "" "" "" "" "CMT4C" "CMT" "" "0000292395" "05113" "00398981" "04209" "Unknown" "18y" "see paper; Foot dorsiflexor weakness (HP:0009027), Distal lower limb amyotrophy (HP:0008944), Areflexia (HP:0001284), Pes cavus (HP:0001761), Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Impaired vibratory sensation (HP:0002495), No pyramidal signs (-HP:0002650), No pyramidal signs (-HP:0001291)" "02y" "" "Frequent falls (HP:0002359)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000292396" "05113" "00398983" "04209" "Unknown" "35y" "see paper; Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), Distal amyotrophy (HP:0003693), Pes cavus (HP:0001761), Impaired vibratory sensation (HP:0002495), Areflexia (HP:0001284), Impaired tactile sensation (HP:0010830), Impaired pain sensation (HP:0007328), No pyramidal signs (-HP:0002650), No pyramidal signs (-HP:0001291)" "16y" "" "Limb muscle weakness (HP:0003690), Hypoesthesia (HP:0033748)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000292397" "05113" "00399118" "04209" "Unknown" "32y" "see paper; Upper limb muscle weakness (HP:0003484), Lower limb muscle weakness (HP:0007340), , Impaired vibratory sensation (HP:0002495), Areflexia (HP:0001284), Distal lower limb amyotrophy (HP:0008944), Foot dorsiflexor weakness (HP:0009027),\r\nNo pyramidal signs (-HP:0010830), No pyramidal signs (-HP:0007328), No pyramidal signs (-HP:0002650), No pyramidal signs (-HP:0001291)" "01y" "" "Pes cavus (HP:0001761)" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000296572" "00370" "00403899" "00435" "Familial, autosomal recessive" "28y" "Progressive weakness and wasting of the four limbs. Bilateral foot drop. Nerve conduction velocity study showed severe demyelinating peripheral neuropathy" "06y" "24y" "" "" "" "" "" "" "CMT-4C" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000296573" "00370" "00403900" "00435" "Familial, autosomal recessive" "42y" "Progressive weakness and wasting of both upper and lower limbs. severe deep sensory loss, Pes Cavus. nerve conduction velocity study showed demyelinating peripheral neuropathy." "24y" "28y" "" "" "" "" "" "" "CMT-4C" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000296574" "00370" "00403906" "00435" "Familial, autosomal recessive" "48y" "kyphoscliosis early in childhood.\r\nprogressive weakness and wasting of upper and lower limbs, marked in lower limbs.\r\nPes Cavus\r\nnerve conduction velocity study showed demyelinating sensory neurpathy" "28y" "32y" "" "" "" "" "" "" "CMT-4C" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000300799" "05618" "00408681" "00006" "Familial, autosomal recessive" "" "" "12m" "" "" "" "" "" "" "" "CMT4C" "neuromuscular disease" "" "0000300804" "05618" "00408686" "00006" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "CMT4C" "neuromuscular disease" "" "0000301063" "04214" "00408945" "00000" "Isolated (sporadic)" "47y" "optic neuropathy" "4y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301069" "04214" "00408951" "00000" "Isolated (sporadic)" "68y" "scoliosis, moderate hearing loss" "9y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301072" "04214" "00408954" "00000" "Familial, autosomal recessive" "83y" "moderate hearing loss" "73y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000301074" "04214" "00408956" "00000" "Isolated (sporadic)" "71y" "scoliosis" "45y" "" "Sensori?motor Demyelinating, pes cavus" "" "" "" "" "" "" "inherited peripheral neuropathy (IPN)" "" "0000330356" "00198" "00440446" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease type 4C (MIM #601596)" "" "" "0000332136" "05618" "00442789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000354510" "00198" "00469357" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 120 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016365" "00016423" "1" "00696" "00696" "2014-04-16 15:10:49" "" "" "SEQ-NG-S" "DNA" "" "" "0000016366" "00016423" "1" "00696" "00696" "2014-04-16 15:25:55" "" "" "SEQ" "DNA" "" "" "0000037149" "00037079" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037150" "00037080" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037151" "00037081" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037152" "00037082" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037153" "00037083" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037154" "00037084" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037155" "00037085" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000145288" "00144430" "0" "01807" "01807" "2017-12-13 15:17:56" "" "" "SEQ" "DNA" "" "" "0000145931" "00145074" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145932" "00145075" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145933" "00145076" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145934" "00145077" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145935" "00145078" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145936" "00145079" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145937" "00145080" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145938" "00145081" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145939" "00145082" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145940" "00145083" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145941" "00145084" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145942" "00145085" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145943" "00145086" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145944" "00145087" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145945" "00145088" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145946" "00145089" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145947" "00145090" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145948" "00145091" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145949" "00145092" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145950" "00145093" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145951" "00145094" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145952" "00145095" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145953" "00145096" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145954" "00145097" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145955" "00145098" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145956" "00145099" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000145957" "00145100" "1" "00006" "00006" "2012-11-07 12:26:32" "" "" "SEQ" "DNA" "" "" "0000208441" "00207404" "1" "01164" "01164" "2018-11-20 22:06:35" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000208615" "00207578" "1" "02371" "02371" "2018-11-25 17:38:13" "" "" "SEQ-NG" "DNA" "" "" "0000208616" "00207579" "1" "02371" "02371" "2018-11-25 17:52:25" "" "" "SEQ-NG" "DNA" "" "" "0000208617" "00207580" "1" "02371" "02371" "2018-11-25 18:01:24" "" "" "SEQ-NG" "DNA" "" "" "0000208618" "00207581" "1" "02371" "02371" "2018-11-25 18:06:58" "" "" "SEQ-NG" "DNA" "" "" "0000208619" "00207582" "1" "02371" "02371" "2018-11-25 18:12:14" "" "" "SEQ-NG" "DNA" "" "" "0000209576" "00208528" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000209580" "00208532" "1" "01164" "01164" "2018-12-10 11:04:21" "" "" "SEQ-NG" "DNA" "" "" "0000209595" "00208547" "1" "01164" "01164" "2018-12-10 11:04:35" "" "" "SEQ-NG" "DNA" "" "" "0000211067" "00210010" "1" "01164" "01164" "2018-12-25 09:53:58" "" "" "SEQ-NG" "DNA" "" "" "0000220150" "00219078" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220151" "00219079" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220152" "00219080" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220153" "00219081" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220154" "00219082" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220155" "00219083" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000267291" "00266170" "1" "01164" "01164" "2019-10-15 11:11:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000294947" "00293779" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294948" "00293780" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294949" "00293781" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294950" "00293782" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294951" "00293783" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294952" "00293784" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294953" "00293785" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294954" "00293786" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294955" "00293787" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294956" "00293788" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294957" "00293789" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297084" "00295912" "1" "01164" "01164" "2020-03-30 10:43:52" "" "" "SEQ-NG-S" "DNA" "" "" "0000297162" "00295991" "1" "01164" "01164" "2020-04-01 11:00:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000297672" "00296562" "1" "01164" "01164" "2020-04-08 14:10:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301143" "00300027" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301144" "00300028" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301145" "00300029" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301212" "00300096" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301213" "00300097" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301214" "00300098" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301215" "00300099" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301228" "00300112" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301230" "00300114" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301243" "00300127" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301244" "00300128" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301250" "00300134" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301260" "00300144" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301269" "00300153" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301273" "00300157" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301276" "00300160" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301277" "00300161" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301278" "00300162" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301279" "00300163" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301280" "00300164" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301281" "00300165" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301282" "00300166" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301283" "00300167" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000306147" "00305018" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312188" "00311036" "1" "01164" "01164" "2020-09-14 10:35:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000375563" "00374369" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375682" "00374488" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375683" "00374489" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000397270" "00396030" "1" "00006" "00006" "2021-12-11 16:17:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000399021" "00397779" "1" "04212" "04212" "2021-12-29 09:59:04" "" "" "SEQ" "DNA" "" "" "0000399078" "00397836" "1" "04212" "04212" "2021-12-29 10:10:34" "" "" "SEQ" "DNA" "" "" "0000399284" "00398040" "1" "04209" "04209" "2021-12-30 17:45:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000399302" "00398059" "1" "04209" "04209" "2021-12-30 20:42:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000399450" "00398206" "1" "04209" "04209" "2021-12-31 17:54:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000399451" "00398207" "1" "04209" "04209" "2021-12-31 19:33:16" "" "" "SEQ-NG" "DNA" "" "WES" "0000399908" "00398667" "1" "04188" "04188" "2022-01-09 11:50:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000400226" "00398981" "1" "04209" "04209" "2022-01-15 14:02:52" "" "" "SEQ-NG" "DNA" "" "WES" "0000400228" "00398983" "1" "04209" "04209" "2022-01-15 16:33:45" "" "" "SEQ-NG" "DNA" "" "WES" "0000400363" "00399118" "1" "04209" "04209" "2022-01-15 16:43:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000405052" "00403814" "1" "00435" "00435" "2022-02-23 12:25:38" "" "" "SEQ" "RNA" "blood" "" "0000405137" "00403899" "1" "00435" "00435" "2022-02-24 20:40:13" "" "" "SEQ" "DNA" "blood" "" "0000405140" "00403900" "1" "00435" "00435" "2022-02-24 20:55:58" "" "" "SEQ" "DNA" "blood" "" "0000405146" "00403906" "1" "00435" "00435" "2022-02-24 21:04:11" "" "" "SEQ" "DNA" "blood" "" "0000409943" "00408681" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000409948" "00408686" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ" "DNA" "" "" "0000410210" "00408945" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410216" "00408951" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410219" "00408954" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000410221" "00408956" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "peripheral blood" "" "0000441931" "00440446" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444273" "00442789" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000471025" "00469357" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 94 "{{screeningid}}" "{{geneid}}" "0000016366" "PDE6A" "0000016366" "SH3TC2" "0000037149" "SH3TC2" "0000037150" "SH3TC2" "0000037151" "SH3TC2" "0000037152" "SH3TC2" "0000037153" "SH3TC2" "0000037154" "SH3TC2" "0000037155" "SH3TC2" "0000145931" "SH3TC2" "0000145932" "SH3TC2" "0000145933" "SH3TC2" "0000145934" "SH3TC2" "0000145935" "SH3TC2" "0000145936" "SH3TC2" "0000145937" "SH3TC2" "0000145938" "SH3TC2" "0000145939" "SH3TC2" "0000145940" "SH3TC2" "0000145941" "SH3TC2" "0000145942" "SH3TC2" "0000145943" "SH3TC2" "0000145944" "SH3TC2" "0000145945" "SH3TC2" "0000145946" "SH3TC2" "0000145947" "SH3TC2" "0000145948" "SH3TC2" "0000145949" "SH3TC2" "0000145950" "SH3TC2" "0000145951" "SH3TC2" "0000145952" "SH3TC2" "0000145953" "SH3TC2" "0000145954" "SH3TC2" "0000145955" "SH3TC2" "0000145956" "SH3TC2" "0000145957" "SH3TC2" "0000208441" "SH3TC2" "0000208615" "SH3TC2" "0000208616" "SH3TC2" "0000208617" "SH3TC2" "0000208618" "SH3TC2" "0000208619" "SH3TC2" "0000220150" "SH3TC2" "0000220151" "SH3TC2" "0000220152" "SH3TC2" "0000220153" "SH3TC2" "0000220154" "SH3TC2" "0000220155" "SH3TC2" "0000301143" "SH3TC2" "0000301144" "SH3TC2" "0000301145" "SH3TC2" "0000301212" "SH3TC2" "0000301213" "SH3TC2" "0000301214" "SH3TC2" "0000301215" "SH3TC2" "0000301228" "SH3TC2" "0000301230" "PMP22" "0000301230" "SH3TC2" "0000301243" "GDAP1" "0000301243" "SH3TC2" "0000301244" "SH3TC2" "0000301250" "SH3TC2" "0000301260" "SH3TC2" "0000301269" "SH3TC2" "0000301273" "SH3TC2" "0000301276" "SH3TC2" "0000301277" "SH3TC2" "0000301278" "SH3TC2" "0000301279" "SH3TC2" "0000301280" "SH3TC2" "0000301281" "SH3TC2" "0000301282" "SH3TC2" "0000301283" "SH3TC2" "0000375563" "LAMA2" "0000375682" "SH3TC2" "0000375683" "SH3TC2" "0000399021" "SH3TC2" "0000399078" "SH3TC2" "0000399284" "SH3TC2" "0000399302" "SH3TC2" "0000399450" "SH3TC2" "0000399451" "SH3TC2" "0000399908" "SH3TC2" "0000400226" "SH3TC2" "0000400228" "SH3TC2" "0000400363" "SH3TC2" "0000405052" "SH3TC2" "0000405137" "SH3TC2" "0000405140" "SH3TC2" "0000405146" "SH3TC2" "0000410210" "SH3TC2" "0000410216" "SH3TC2" "0000410219" "SH3TC2" "0000410221" "SH3TC2" ## 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 = 284 "{{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}}" "0000036179" "3" "75" "5" "148407710" "148407710" "subst" "2.84375E-5" "00696" "SH3TC2_000031" "g.148407710G>A" "15/15 reads" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149028147G>A" "" "likely pathogenic" "" "0000064274" "1" "90" "5" "148407549" "148407550" "del" "0" "01164" "SH3TC2_000002" "g.148407549_148407550del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149027986_149027987del" "" "pathogenic" "" "0000064275" "1" "10" "5" "148421065" "148421065" "subst" "0.00917692" "01164" "SH3TC2_000037" "g.148421065G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149041502G>A" "" "benign" "" "0000064276" "1" "50" "5" "148388420" "148388420" "subst" "0.0272594" "01164" "SH3TC2_000033" "g.148388420C>T" "" "" "" "" "" "Germline" "" "rs55853803" "0" "" "" "g.149008857C>T" "" "VUS" "" "0000064277" "1" "10" "5" "148388420" "148388420" "subst" "0.0272594" "01164" "SH3TC2_000033" "g.148388420C>T" "" "" "" "" "" "Germline" "" "rs55853803" "0" "" "" "g.149008857C>T" "" "benign" "" "0000064278" "1" "50" "5" "148427616" "148427616" "subst" "0" "01164" "SH3TC2_000032" "g.148427616A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149048053A>G" "" "VUS" "" "0000064279" "1" "50" "5" "148417965" "148417965" "subst" "2.84278E-5" "01164" "SH3TC2_000036" "g.148417965G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149038402G>A" "" "VUS" "" "0000064280" "1" "90" "5" "148407323" "148407323" "subst" "2.43863E-5" "01164" "SH3TC2_000006" "g.148407323G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149027760G>A" "" "pathogenic" "" "0000236387" "3" "90" "5" "148421182" "148421182" "subst" "0" "01807" "SH3TC2_000028" "g.148421182T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149041619T>A" "" "pathogenic" "" "0000238525" "0" "90" "5" "148442560" "148442560" "del" "0" "00006" "SH3TC2_000017" "g.148442560del" "" "{PMID:Senderek 2003:14574644}" "" "28delG" "" "Germline" "" "" "0" "" "" "g.149062997del" "" "pathogenic" "" "0000238526" "0" "90" "5" "148427477" "148427487" "delins" "0" "00006" "SH3TC2_000009" "g.148427477_148427487delinsTTACTGG" "" "{PMID:Azzedine 2006:16924012}" "" "217_227delGCTGCTCGGAGinsCCAGTAA" "" "Germline" "" "" "0" "" "" "g.149047914_149047924delinsTTACTGG" "" "pathogenic" "" "0000238527" "0" "90" "5" "148422281" "148422281" "subst" "0.00162046" "00006" "SH3TC2_000024" "g.148422281A>G" "" "{PMID:Lupski 2010:20220177}" "" "" "" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "pathogenic" "" "0000238528" "0" "90" "5" "148421114" "148421114" "subst" "4.06286E-6" "00006" "SH3TC2_000025" "g.148421114G>A" "" "{PMID:Lassuthova 2011:21291453}" "" "" "" "Germline" "" "" "0" "" "" "g.149041551G>A" "" "pathogenic" "" "0000238529" "0" "90" "5" "148421030" "148421030" "subst" "8.13339E-6" "00006" "SH3TC2_000026" "g.148421030C>T" "" "{PMID:Lassuthova 2011:21291453}" "" "" "" "Germline" "" "" "0" "" "" "g.149041467C>T" "" "pathogenic" "" "0000238530" "0" "90" "5" "148417939" "148417939" "subst" "0" "00006" "SH3TC2_000027" "g.148417939C>T" "" "{PMID:Azzedine 2006:16924012}" "" "" "" "Germline" "" "" "0" "" "" "g.149038376C>T" "" "pathogenic" "" "0000238531" "0" "90" "5" "148408010" "148408010" "subst" "0" "00006" "SH3TC2_000001" "g.148408010C>A" "" "{PMID:Lassuthova 2011:21291453}" "" "" "" "Germline" "" "" "0" "" "" "g.149028447C>A" "" "pathogenic" "" "0000238532" "0" "90" "5" "148407549" "148407550" "del" "0" "00006" "SH3TC2_000002" "g.148407549_148407550del" "" "{PMID:Senderek 2003:14574644}" "" "1747_1748delAG" "" "Germline" "" "" "0" "" "" "g.149027986_149027987del" "" "pathogenic" "" "0000238533" "0" "90" "5" "148407398" "148407401" "delins" "0" "00006" "SH3TC2_000003" "g.148407398_148407401delinsTTT" "" "{PMID:Fischer 2011:21892769}" "" "1894_1897delGAGGinsAAA" "" "Germline" "" "" "0" "" "" "g.149027835_149027838delinsTTT" "" "pathogenic" "" "0000238534" "0" "90" "5" "148407373" "148407389" "delins" "0" "00006" "SH3TC2_000004" "g.148407373_148407389delinsGCCCT" "" "{PMID:Lupo 2009:19744956}" "" "1906_1922delTGCTTTCTGGCCATCCGinsAGGGC" "" "Germline" "" "" "0" "" "" "g.149027810_149027826delinsGCCCT" "" "pathogenic" "" "0000238535" "0" "90" "5" "148407326" "148407326" "subst" "2.43873E-5" "00006" "SH3TC2_000005" "g.148407326C>T" "" "{PMID:Senderek 2003:14574644}" "" "" "" "Germline" "" "" "0" "" "" "g.149027763C>T" "" "pathogenic" "" "0000238536" "0" "90" "5" "148407323" "148407323" "subst" "2.43863E-5" "00006" "SH3TC2_000006" "g.148407323G>A" "" "{PMID:Senderek 2003:14574644}" "" "" "" "Germline" "" "" "0" "" "" "g.149027760G>A" "" "pathogenic" "" "0000238537" "0" "90" "5" "148407313" "148407313" "subst" "0" "00006" "SH3TC2_000007" "g.148407313A>G" "" "{PMID:Roberts 2010:20028792}" "" "" "" "Germline" "" "" "0" "" "" "g.149027750A>G" "" "pathogenic" "" "0000238538" "0" "90" "5" "148407310" "148407310" "subst" "0" "00006" "SH3TC2_000008" "g.148407310A>G" "" "{PMID:Azzedine 2006:16924012}" "" "" "" "Germline" "" "" "0" "" "" "g.149027747A>G" "" "pathogenic" "" "0000238539" "0" "90" "5" "148407082" "148407084" "del" "0" "00006" "SH3TC2_000010" "g.148407082_148407084del" "" "{PMID:Claramunt 2007:17470135}" "" "2211_2213delCCC" "" "Germline" "" "" "0" "" "" "g.149027519_149027521del" "" "pathogenic" "" "0000238540" "0" "90" "5" "148406807" "148406808" "del" "0" "00006" "SH3TC2_000011" "g.148406807_148406808del" "" "{PMID:Senderek 2003:14574644}" "" "2491_2492delAG" "" "Germline" "" "" "0" "" "" "g.149027244_149027245del" "" "pathogenic" "" "0000238541" "0" "90" "5" "148406662" "148406662" "subst" "0" "00006" "SH3TC2_000012" "g.148406662G>T" "" "{PMID:Baets 2011:21840889}" "" "" "" "Germline" "" "" "0" "" "" "g.149027099G>T" "" "pathogenic" "" "0000238542" "0" "90" "5" "148406653" "148406653" "subst" "2.03209E-5" "00006" "SH3TC2_000013" "g.148406653T>C" "" "{PMID:Azzedine 2006:16924012}" "" "" "" "Germline" "" "" "0" "" "" "g.149027090T>C" "" "pathogenic" "" "0000238543" "0" "90" "5" "148406585" "148406585" "subst" "4.47438E-5" "00006" "SH3TC2_000014" "g.148406585G>A" "" "{PMID:Azzedine 2006:16924012}" "" "" "" "Germline" "" "rs80338931" "0" "" "" "g.149027022G>A" "" "pathogenic" "" "0000238544" "0" "90" "5" "148406466" "148406466" "subst" "4.0625E-6" "00006" "SH3TC2_000015" "g.148406466A>C" "" "{PMID:Senderek 2003:14574644}" "" "" "" "Germline" "" "rs80338932" "0" "" "" "g.149026903A>C" "" "pathogenic" "" "0000238545" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Senderek 2003:14574644}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000238546" "0" "90" "5" "148389855" "148389855" "del" "0" "00006" "SH3TC2_000018" "g.148389855del" "" "{PMID:Lupo 2009:19744956}" "" "3305delA" "" "Germline" "" "" "0" "" "" "g.149010292del" "" "pathogenic" "" "0000238547" "0" "90" "5" "148389835" "148389835" "subst" "4.06223E-5" "00006" "SH3TC2_000019" "g.148389835G>A" "" "{PMID:Gooding 2005:16326826}" "" "" "" "Germline" "" "rs80338934" "0" "" "" "g.149010272G>A" "" "pathogenic" "" "0000238548" "0" "90" "5" "148389834" "148389834" "subst" "0" "00006" "SH3TC2_000020" "g.148389834C>G" "" "{PMID:Roberts 2010:20028792}" "" "" "" "Germline" "" "" "0" "" "" "g.149010271C>G" "" "pathogenic" "" "0000238549" "0" "90" "5" "148388552" "148388552" "del" "0" "00006" "SH3TC2_000021" "g.148388552del" "" "{PMID:Senderek 2003:14574644}" "" "3341delC" "" "Germline" "" "" "0" "" "" "g.149008989del" "" "pathogenic" "" "0000238550" "0" "90" "5" "148386518" "148386518" "subst" "0" "00006" "SH3TC2_000022" "g.148386518G>A" "" "{PMID:Senderek 2003:14574644}" "" "" "" "Germline" "" "" "0" "" "" "g.149006955G>A" "" "pathogenic" "" "0000238551" "0" "90" "5" "148384455" "148384455" "subst" "0.00260196" "00006" "SH3TC2_000023" "g.148384455T>A" "" "{PMID:Lassuthova 2011:21291453}" "" "" "" "Germline" "" "" "0" "" "" "g.149004892T>A" "" "pathogenic" "" "0000246321" "0" "10" "5" "148407708" "148407708" "subst" "0.978761" "02330" "SH3TC2_000052" "g.148407708A>C" "" "" "" "SH3TC2(NM_024577.3):c.1587T>G (p.R529=), SH3TC2(NM_024577.4):c.1587T>G (p.R529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028145A>C" "" "benign" "" "0000246330" "0" "10" "5" "148408101" "148408101" "subst" "0.440094" "02330" "SH3TC2_000055" "g.148408101A>G" "" "" "" "SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028538A>G" "" "benign" "" "0000246393" "0" "90" "5" "148407313" "148407313" "subst" "0" "02330" "SH3TC2_000007" "g.148407313A>G" "" "" "" "SH3TC2(NM_024577.4):c.1982T>C (p.L661P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027750A>G" "" "pathogenic" "" "0000246394" "0" "90" "5" "148406466" "148406466" "subst" "4.0625E-6" "02330" "SH3TC2_000015" "g.148406466A>C" "" "" "" "SH3TC2(NM_024577.4):c.2829T>G (p.Y943*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149026903A>C" "" "pathogenic" "" "0000248362" "0" "10" "5" "148407708" "148407708" "subst" "0.978761" "02325" "SH3TC2_000052" "g.148407708A>C" "" "" "" "SH3TC2(NM_024577.3):c.1587T>G (p.R529=), SH3TC2(NM_024577.4):c.1587T>G (p.R529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028145A>C" "" "benign" "" "0000252440" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "02326" "SH3TC2_000024" "g.148422281A>G" "" "" "" "SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149042718A>G" "" "VUS" "" "0000295810" "0" "10" "5" "148366571" "148366571" "subst" "0" "02330" "SH3TC2_000038" "g.148366571T>C" "" "" "" "SH3TC2(NM_024577.4):c.*17703A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148987008T>C" "" "benign" "" "0000295812" "0" "50" "5" "148407997" "148407997" "subst" "0.000640565" "02330" "SH3TC2_000064" "g.148407997G>A" "" "" "" "SH3TC2(NM_024577.4):c.1298C>T (p.S433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028434G>A" "" "VUS" "" "0000295813" "0" "10" "5" "148407945" "148407945" "subst" "0.0548911" "02330" "SH3TC2_000063" "g.148407945C>T" "" "" "" "SH3TC2(NM_024577.3):c.1350G>A (p.P450=), SH3TC2(NM_024577.4):c.1350G>A (p.P450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028382C>T" "" "benign" "" "0000295814" "0" "10" "5" "148407893" "148407893" "subst" "0.194133" "02330" "SH3TC2_000054" "g.148407893C>A" "" "" "" "SH3TC2(NM_024577.4):c.1402G>T (p.A468S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028330C>A" "" "benign" "" "0000295815" "0" "30" "5" "148407892" "148407892" "subst" "0.00375723" "02330" "SH3TC2_000062" "g.148407892G>A" "" "" "" "SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028329G>A" "" "likely benign" "" "0000295816" "0" "90" "5" "148407709" "148407709" "subst" "2.84382E-5" "02330" "SH3TC2_000047" "g.148407709C>T" "" "" "" "SH3TC2(NM_024577.4):c.1586G>A (p.R529H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028146C>T" "" "pathogenic" "" "0000295817" "0" "30" "5" "148407528" "148407528" "subst" "0.000187213" "02330" "SH3TC2_000046" "g.148407528G>A" "" "" "" "SH3TC2(NM_024577.4):c.1767C>T (p.S589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027965G>A" "" "likely benign" "" "0000295818" "0" "90" "5" "148407326" "148407326" "subst" "2.43873E-5" "02330" "SH3TC2_000005" "g.148407326C>T" "" "" "" "SH3TC2(NM_024577.4):c.1969G>A (p.E657K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027763C>T" "" "pathogenic" "" "0000295819" "0" "90" "5" "148407323" "148407323" "subst" "2.43863E-5" "02330" "SH3TC2_000006" "g.148407323G>A" "" "" "" "SH3TC2(NM_024577.4):c.1972C>T (p.R658C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027760G>A" "" "pathogenic" "" "0000295820" "0" "70" "5" "148406653" "148406653" "subst" "2.03209E-5" "02330" "SH3TC2_000013" "g.148406653T>C" "" "" "" "SH3TC2(NM_024577.4):c.2642A>G (p.N881S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027090T>C" "" "likely pathogenic" "" "0000295821" "0" "70" "5" "148406653" "148406653" "subst" "0" "02330" "SH3TC2_000045" "g.148406653T>A" "" "" "" "SH3TC2(NM_024577.4):c.2642A>T (p.N881I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027090T>A" "" "likely pathogenic" "" "0000295822" "0" "90" "5" "148406615" "148406615" "subst" "0" "02330" "SH3TC2_000060" "g.148406615G>A" "" "" "" "SH3TC2(NM_024577.4):c.2680C>T (p.P894S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027052G>A" "" "pathogenic" "" "0000295823" "0" "90" "5" "148406585" "148406585" "subst" "4.47438E-5" "02330" "SH3TC2_000014" "g.148406585G>A" "" "" "" "SH3TC2(NM_024577.4):c.2710C>T (p.R904*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027022G>A" "" "pathogenic" "" "0000295824" "0" "70" "5" "148427425" "148427425" "subst" "1.2191E-5" "02330" "SH3TC2_000049" "g.148427425C>T" "" "" "" "SH3TC2(NM_024577.4):c.279G>A (p.K93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149047862C>T" "" "likely pathogenic" "" "0000295825" "0" "30" "5" "148406483" "148406483" "subst" "0.000324995" "02330" "SH3TC2_000059" "g.148406483G>A" "" "" "" "SH3TC2(NM_024577.4):c.2812C>T (p.H938Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149026920G>A" "" "likely benign" "" "0000295826" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "02330" "SH3TC2_000016" "g.148406435G>A" "" "" "" "SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000295827" "0" "30" "5" "148389845" "148389845" "subst" "0.000942316" "02330" "SH3TC2_000044" "g.148389845C>T" "" "" "" "SH3TC2(NM_024577.3):c.3315G>A (p.V1105=), SH3TC2(NM_024577.4):c.3315G>A (p.V1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149010282C>T" "" "likely benign" "" "0000295828" "0" "90" "5" "148389835" "148389835" "subst" "4.06223E-5" "02330" "SH3TC2_000019" "g.148389835G>A" "" "" "" "SH3TC2(NM_024577.4):c.3325C>T (p.R1109*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149010272G>A" "" "pathogenic" "" "0000295829" "0" "30" "5" "148388475" "148388475" "subst" "1.62434E-5" "02330" "SH3TC2_000043" "g.148388475G>A" "" "" "" "SH3TC2(NM_024577.4):c.3417C>T (p.L1139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149008912G>A" "" "likely benign" "" "0000295830" "0" "50" "5" "148388435" "148388435" "subst" "0" "02330" "SH3TC2_000042" "g.148388435C>T" "" "" "" "SH3TC2(NM_024577.4):c.3457G>A (p.A1153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149008872C>T" "" "VUS" "" "0000295831" "0" "10" "5" "148388420" "148388420" "subst" "0.0272594" "02330" "SH3TC2_000033" "g.148388420C>T" "" "" "" "SH3TC2(NM_024577.3):c.3472G>A (p.V1158I), SH3TC2(NM_024577.4):c.3472G>A (p.V1158I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149008857C>T" "" "benign" "" "0000295832" "0" "10" "5" "148386525" "148386525" "subst" "0.395292" "02330" "SH3TC2_000040" "g.148386525T>G" "" "" "" "SH3TC2(NM_024577.3):c.3594A>C (p.P1198=), SH3TC2(NM_024577.4):c.3594A>C (p.P1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149006962T>G" "" "benign" "" "0000295833" "0" "10" "5" "148386525" "148386525" "subst" "0.083131" "02330" "SH3TC2_000041" "g.148386525T>C" "" "" "" "SH3TC2(NM_024577.4):c.3594A>G (p.P1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149006962T>C" "" "benign" "" "0000295834" "0" "90" "5" "148384473" "148384473" "subst" "1.22154E-5" "02330" "SH3TC2_000039" "g.148384473C>T" "" "" "" "SH3TC2(NM_024577.4):c.3676-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149004910C>T" "" "pathogenic" "" "0000295835" "0" "10" "5" "148422274" "148422274" "subst" "0.0609886" "02330" "SH3TC2_000066" "g.148422274C>T" "" "" "" "SH3TC2(NM_024577.4):c.512G>A (p.G171E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149042711C>T" "" "benign" "" "0000295836" "0" "90" "5" "148421182" "148421182" "subst" "0" "02330" "SH3TC2_000065" "g.148421182T>C" "" "" "" "SH3TC2(NM_024577.4):c.530-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149041619T>C" "" "pathogenic" "" "0000295837" "0" "10" "5" "148421065" "148421065" "subst" "0.00917692" "02330" "SH3TC2_000037" "g.148421065G>A" "" "" "" "SH3TC2(NM_024577.4):c.645C>T (p.S215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149041502G>A" "" "benign" "" "0000295838" "0" "90" "5" "148417939" "148417939" "subst" "0" "02330" "SH3TC2_000027" "g.148417939C>T" "" "" "" "SH3TC2(NM_024577.4):c.920G>A (p.W307*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149038376C>T" "" "pathogenic" "" "0000302104" "0" "50" "5" "148406713" "148406713" "subst" "0.000125996" "02326" "SH3TC2_000061" "g.148406713C>T" "" "" "" "SH3TC2(NM_024577.3):c.2582G>A (p.R861Q), SH3TC2(NM_024577.4):c.2582G>A (p.R861Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027150C>T" "" "VUS" "" "0000302105" "0" "10" "5" "148388420" "148388420" "subst" "0.0272594" "02326" "SH3TC2_000033" "g.148388420C>T" "" "" "" "SH3TC2(NM_024577.3):c.3472G>A (p.V1158I), SH3TC2(NM_024577.4):c.3472G>A (p.V1158I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149008857C>T" "" "benign" "" "0000330661" "0" "50" "5" "148421021" "148421021" "subst" "0.000882609" "01804" "SH3TC2_000092" "g.148421021A>G" "" "" "" "SH3TC2(NM_024577.3):c.689T>C (p.(Val230Ala)), SH3TC2(NM_024577.4):c.689T>C (p.V230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149041458A>G" "" "VUS" "" "0000339460" "0" "10" "5" "148386525" "148386525" "subst" "0.395292" "02327" "SH3TC2_000040" "g.148386525T>G" "" "" "" "SH3TC2(NM_024577.3):c.3594A>C (p.P1198=), SH3TC2(NM_024577.4):c.3594A>C (p.P1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149006962T>G" "" "benign" "" "0000339461" "0" "10" "5" "148408101" "148408101" "subst" "0.440094" "02327" "SH3TC2_000055" "g.148408101A>G" "" "" "" "SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028538A>G" "" "benign" "" "0000340685" "0" "10" "5" "148407708" "148407708" "subst" "0.978761" "02327" "SH3TC2_000052" "g.148407708A>C" "" "" "" "SH3TC2(NM_024577.3):c.1587T>G (p.R529=), SH3TC2(NM_024577.4):c.1587T>G (p.R529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028145A>C" "" "benign" "" "0000341460" "0" "10" "5" "148407893" "148407893" "subst" "0.194133" "02327" "SH3TC2_000054" "g.148407893C>A" "" "" "" "SH3TC2(NM_024577.4):c.1402G>T (p.A468S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028330C>A" "" "benign" "" "0000343510" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "02327" "SH3TC2_000016" "g.148406435G>A" "" "" "" "SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000346296" "0" "50" "5" "148406768" "148406768" "subst" "0" "02327" "SH3TC2_000050" "g.148406768C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027205C>T" "" "VUS" "" "0000346678" "0" "50" "5" "148417934" "148417934" "subst" "8.12203E-6" "02327" "SH3TC2_000056" "g.148417934T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149038371T>C" "" "VUS" "" "0000346948" "0" "50" "5" "148422269" "148422269" "subst" "8.52986E-5" "02327" "SH3TC2_000058" "g.148422269G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149042706G>T" "" "VUS" "" "0000349821" "0" "50" "5" "148407722" "148407722" "subst" "0" "02327" "SH3TC2_000053" "g.148407722A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149028159A>G" "" "VUS" "" "0000349843" "0" "90" "5" "148407169" "148407169" "subst" "4.06055E-6" "02327" "SH3TC2_000051" "g.148407169C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149027606C>T" "" "pathogenic" "" "0000349943" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "02327" "SH3TC2_000024" "g.148422281A>G" "" "" "" "SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149042718A>G" "" "VUS" "" "0000350719" "0" "70" "5" "148427425" "148427425" "subst" "1.2191E-5" "02327" "SH3TC2_000049" "g.148427425C>T" "" "" "" "SH3TC2(NM_024577.4):c.279G>A (p.K93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149047862C>T" "" "likely pathogenic" "" "0000350925" "0" "90" "5" "148421167" "148421167" "subst" "0" "02327" "SH3TC2_000057" "g.148421167G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149041604G>T" "" "pathogenic" "" "0000438293" "3" "70" "5" "148407398" "148407401" "del" "0" "01164" "SH3TC2_000003" "g.148407398_148407401delinsTTT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.149027835_149027838delinsTTT" "" "likely pathogenic" "ACMG" "0000438529" "0" "90" "5" "148406278" "148406278" "subst" "0" "02371" "SH3TC2_000067" "g.148406278G>T" "" "under publication" "" "" "" "Germline" "yes" "" "0" "" "" "g.149026715G>T" "" "pathogenic" "" "0000438530" "0" "90" "5" "148406278" "148406278" "subst" "0" "02371" "SH3TC2_000067" "g.148406278G>T" "" "" "" "under publication" "under publication" "Germline" "yes" "" "0" "" "" "g.149026715G>T" "" "pathogenic" "" "0000438531" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "02371" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000438532" "2" "90" "5" "148388515" "148388515" "subst" "0" "02371" "SH3TC2_000068" "g.148388515A>G" "" "" "" "under publication" "" "Germline" "yes" "" "0" "" "" "g.149008952A>G" "" "pathogenic" "" "0000438533" "1" "90" "5" "148406435" "148406435" "subst" "0.000755803" "02371" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000438534" "2" "90" "5" "148386523" "148386523" "subst" "0" "02371" "SH3TC2_000069" "g.148386523C>T" "" "under publication" "" "under publication" "" "Germline" "yes" "" "0" "" "" "g.149006960C>T" "" "pathogenic" "" "0000438535" "1" "90" "5" "148406653" "148406653" "subst" "2.03209E-5" "02371" "SH3TC2_000013" "g.148406653T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149027090T>C" "" "pathogenic" "" "0000438536" "1" "90" "5" "148386502" "148386502" "subst" "0" "02371" "SH3TC2_000070" "g.148386502G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149006939G>T" "" "pathogenic" "" "0000439729" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01164" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "ACMG grading: PM2,PM3,PVS1; recessive MOI for CMT, no second variant in SH3TC2 detected; postulated mechanism for dominant inheritance of missense variants in a toxic gain-of function; reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664 Lupski 2013. GenomeMed 5: 57 Lupski 2010. NEnglJMed 362: 1181" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic" "ACMG" "0000439733" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "01164" "SH3TC2_000024" "g.148422281A>G" "" "" "" "" "no second variant detected in SH3TC2; reported in Lupski (2010) N Engl J Med 362: 1181 Lupski (2013) Genome Med 5: 57; Rudnik-Schöneborn 2016. Neuromuscul Disord 26: 132" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "VUS" "ACMG" "0000439753" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01164" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PM3; not regarded causative for phenotype in patient; co-occurrence with pathogenic variant in AARS (c.986G>A:p.Arg329His).; reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664 Lupski 2013. GenomeMed 5: 57 Lupski 2010. NEnglJMed 362: 1181" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic" "ACMG" "0000442485" "3" "50" "5" "148406956" "148406956" "subst" "0" "01164" "SH3TC2_000071" "g.148406956A>G" "" "" "" "" "ACMG grading: PP5,PM2; reported in Zimo 2015. Neurogenetics 16: 33" "Germline" "" "" "0" "" "" "g.149027393A>G" "" "VUS" "ACMG" "0000455061" "1" "70" "5" "148427557" "148427560" "del" "0" "00006" "SH3TC2_000072" "g.148427557_148427560del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "152-7_152-4delCTTT" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.149047994_149047997del" "" "likely pathogenic" "ACMG" "0000455062" "2" "90" "5" "148406956" "148406956" "subst" "0" "00006" "SH3TC2_000071" "g.148406956A>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149027393A>G" "" "pathogenic" "" "0000455063" "3" "90" "5" "148407617" "148407617" "del" "0" "00006" "SH3TC2_000073" "g.148407617del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "1679delG" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.149028054del" "" "likely pathogenic" "ACMG" "0000455064" "1" "90" "5" "148407323" "148407323" "subst" "2.43863E-5" "00006" "SH3TC2_000006" "g.148407323G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149027760G>A" "" "pathogenic" "" "0000455065" "2" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000455066" "2" "70" "5" "148407430" "148407430" "subst" "0" "00006" "SH3TC2_000075" "g.148407430T>G" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm2, pm3, pp2, pp3" "Germline" "yes" "" "0" "" "" "g.149027867T>G" "" "likely pathogenic" "ACMG" "0000455067" "1" "90" "5" "148407029" "148407029" "subst" "0" "00006" "SH3TC2_000074" "g.148407029G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.149027466G>A" "" "likely pathogenic" "ACMG" "0000455068" "2" "90" "5" "148408040" "148408040" "del" "0" "00006" "SH3TC2_000076" "g.148408040del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "1255delT" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.149028477del" "" "likely pathogenic" "ACMG" "0000455069" "1" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000455070" "3" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "" "Germline" "" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" "0000524748" "0" "10" "5" "148366371" "148366371" "subst" "0" "02330" "SH3TC2_000077" "g.148366371T>C" "" "" "" "SH3TC2(NM_024577.4):c.*17903A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148986808T>C" "" "benign" "" "0000524749" "0" "30" "5" "148366477" "148366477" "subst" "0" "02330" "SH3TC2_000078" "g.148366477G>A" "" "" "" "SH3TC2(NM_024577.4):c.*17797C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148986914G>A" "" "likely benign" "" "0000524750" "0" "10" "5" "148384307" "148384307" "subst" "0.00251955" "02330" "SH3TC2_000079" "g.148384307C>T" "" "" "" "SH3TC2(NM_024577.4):c.3834G>A (p.A1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149004744C>T" "" "benign" "" "0000524751" "0" "10" "5" "148384346" "148384346" "subst" "0.00141558" "02330" "SH3TC2_000080" "g.148384346C>G" "" "" "" "SH3TC2(NM_024577.3):c.3795G>C (p.L1265=), SH3TC2(NM_024577.4):c.3795G>C (p.L1265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149004783C>G" "" "benign" "" "0000524752" "0" "30" "5" "148384346" "148384346" "subst" "0.00141558" "02326" "SH3TC2_000080" "g.148384346C>G" "" "" "" "SH3TC2(NM_024577.3):c.3795G>C (p.L1265=), SH3TC2(NM_024577.4):c.3795G>C (p.L1265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149004783C>G" "" "likely benign" "" "0000524753" "0" "30" "5" "148384418" "148384418" "subst" "1.21902E-5" "02330" "SH3TC2_000081" "g.148384418C>T" "" "" "" "SH3TC2(NM_024577.4):c.3723G>A (p.A1241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149004855C>T" "" "likely benign" "" "0000524754" "0" "90" "5" "148386518" "148386518" "subst" "0" "02330" "SH3TC2_000022" "g.148386518G>A" "" "" "" "SH3TC2(NM_024577.4):c.3601C>T (p.Q1201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149006955G>A" "" "pathogenic" "" "0000524755" "0" "70" "5" "148386523" "148386523" "subst" "0" "02330" "SH3TC2_000069" "g.148386523C>T" "" "" "" "SH3TC2(NM_024577.4):c.3596G>A (p.W1199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149006960C>T" "" "likely pathogenic" "" "0000524756" "0" "50" "5" "148388512" "148388512" "subst" "0.000962429" "02330" "SH3TC2_000082" "g.148388512C>T" "" "" "" "SH3TC2(NM_024577.3):c.3380G>A (p.R1127Q), SH3TC2(NM_024577.4):c.3380G>A (p.R1127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149008949C>T" "" "VUS" "" "0000524757" "0" "30" "5" "148389820" "148389820" "subst" "0" "02330" "SH3TC2_000083" "g.148389820A>T" "" "" "" "SH3TC2(NM_024577.4):c.3327+13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149010257A>T" "" "likely benign" "" "0000524758" "0" "90" "5" "148389834" "148389834" "subst" "0" "02330" "SH3TC2_000020" "g.148389834C>G" "" "" "" "SH3TC2(NM_024577.4):c.3326G>C (p.R1109P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149010271C>G" "" "pathogenic" "" "0000524759" "0" "50" "5" "148389855" "148389855" "subst" "5.6862E-5" "02330" "SH3TC2_000084" "g.148389855T>C" "" "" "" "SH3TC2(NM_024577.4):c.3305A>G (p.H1102R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149010292T>C" "" "VUS" "" "0000524760" "0" "10" "5" "148407060" "148407060" "subst" "0.00746772" "02330" "SH3TC2_000085" "g.148407060A>C" "" "" "" "SH3TC2(NM_024577.4):c.2235T>G (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149027497A>C" "" "benign" "" "0000524761" "0" "30" "5" "148407262" "148407262" "subst" "0" "02326" "SH3TC2_000086" "g.148407262A>G" "" "" "" "SH3TC2(NM_024577.3):c.2033T>C (p.F678S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149027699A>G" "" "likely benign" "" "0000524762" "0" "30" "5" "148407852" "148407852" "subst" "0.000447314" "02330" "SH3TC2_000087" "g.148407852G>A" "" "" "" "SH3TC2(NM_024577.3):c.1443C>T (p.D481=), SH3TC2(NM_024577.4):c.1443C>T (p.D481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028289G>A" "" "likely benign" "" "0000524763" "0" "70" "5" "148407892" "148407892" "del" "0" "02330" "SH3TC2_000088" "g.148407892del" "" "" "" "SH3TC2(NM_024577.4):c.1407delC (p.I470Yfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028329del" "" "likely pathogenic" "" "0000524764" "0" "30" "5" "148407996" "148407996" "subst" "8.16153E-6" "02330" "SH3TC2_000089" "g.148407996C>G" "" "" "" "SH3TC2(NM_024577.4):c.1299G>C (p.S433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028433C>G" "" "likely benign" "" "0000524765" "0" "90" "5" "148408118" "148408118" "subst" "0" "02330" "SH3TC2_000090" "g.148408118C>T" "" "" "" "SH3TC2(NM_024577.4):c.1178-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028555C>T" "" "pathogenic" "" "0000524766" "0" "70" "5" "148418040" "148418040" "dup" "0" "02330" "SH3TC2_000091" "g.148418040dup" "" "" "" "SH3TC2(NM_024577.4):c.819dupT (p.K274*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149038477dup" "" "likely pathogenic" "" "0000524767" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "02330" "SH3TC2_000024" "g.148422281A>G" "" "" "" "SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149042718A>G" "" "VUS" "" "0000524768" "0" "50" "5" "148427468" "148427474" "del" "0" "02330" "SH3TC2_000093" "g.148427468_148427474del" "" "" "" "SH3TC2(NM_024577.4):c.233_239delTCTGGGC (p.L78Hfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149047905_149047911del" "" "VUS" "" "0000524769" "0" "50" "5" "148427540" "148427540" "subst" "6.49783E-5" "02330" "SH3TC2_000094" "g.148427540G>A" "" "" "" "SH3TC2(NM_024577.4):c.164C>T (p.S55F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149047977G>A" "" "VUS" "" "0000524770" "0" "30" "5" "148431777" "148431777" "subst" "0.00135704" "02330" "SH3TC2_000095" "g.148431777T>C" "" "" "" "SH3TC2(NM_024577.3):c.79A>G (p.T27A), SH3TC2(NM_024577.4):c.79A>G (p.T27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149052214T>C" "" "likely benign" "" "0000524771" "0" "30" "5" "148431777" "148431777" "subst" "0.00135704" "02326" "SH3TC2_000095" "g.148431777T>C" "" "" "" "SH3TC2(NM_024577.3):c.79A>G (p.T27A), SH3TC2(NM_024577.4):c.79A>G (p.T27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149052214T>C" "" "likely benign" "" "0000524772" "0" "50" "5" "148442534" "148442534" "subst" "0" "02330" "SH3TC2_000096" "g.148442534C>T" "" "" "" "SH3TC2(NM_024577.4):c.52G>A (p.G18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149062971C>T" "" "VUS" "" "0000598343" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01164" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "ACMG grading: PM3, PVS1, PM2; variant reported in Senderek 2003. AmJHumGenet 73: 1106; Baets 2001. Brain 134: 2664; Lupski 2013. GenomeMed 5: 57; Lupski 2010. NEnglJMed 362: 1181" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic" "ACMG" "0000598345" "0" "50" "5" "148407715" "148407715" "subst" "0" "01164" "SH3TC2_000097" "g.148407715T>G" "" "" "" "" "ACMG grading: PP3, PM3, PM2" "Germline" "" "" "0" "" "" "g.149028152T>G" "" "VUS" "ACMG" "0000609561" "0" "50" "5" "148386607" "148386607" "subst" "2.43718E-5" "02330" "SH3TC2_000098" "g.148386607C>A" "" "" "" "SH3TC2(NM_024577.4):c.3512G>T (p.R1171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149007044C>A" "" "VUS" "" "0000609562" "0" "30" "5" "148386660" "148386660" "subst" "3.26041E-5" "02326" "SH3TC2_000099" "g.148386660G>A" "" "" "" "SH3TC2(NM_024577.3):c.3479-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149007097G>A" "" "likely benign" "" "0000609563" "0" "10" "5" "148406427" "148406427" "subst" "0.00138535" "02330" "SH3TC2_000100" "g.148406427T>C" "" "" "" "SH3TC2(NM_024577.3):c.2868A>G (p.L956=), SH3TC2(NM_024577.4):c.2868A>G (p.L956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149026864T>C" "" "benign" "" "0000609564" "0" "30" "5" "148407892" "148407892" "subst" "0.00375723" "02326" "SH3TC2_000062" "g.148407892G>A" "" "" "" "SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028329G>A" "" "likely benign" "" "0000609565" "0" "30" "5" "148424092" "148424096" "del" "0" "02330" "SH3TC2_000103" "g.148424092_148424096del" "" "" "" "SH3TC2(NM_024577.4):c.385+4_385+8delTGGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149044529_149044533del" "" "likely benign" "" "0000609566" "0" "30" "5" "148442695" "148442695" "subst" "0" "02330" "SH3TC2_000104" "g.148442695G>A" "" "" "" "SH3TC2(NM_024577.4):c.-110C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149063132G>A" "" "likely benign" "" "0000621502" "0" "30" "5" "148411262" "148411262" "subst" "4.06587E-6" "02330" "SH3TC2_000101" "g.148411262C>A" "" "" "" "SH3TC2(NM_024577.4):c.1002-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149031699C>A" "" "likely benign" "" "0000621503" "0" "10" "5" "148422309" "148422309" "subst" "0.00267632" "02330" "SH3TC2_000102" "g.148422309A>T" "" "" "" "SH3TC2(NM_024577.4):c.477T>A (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149042746A>T" "" "benign" "" "0000651636" "1" "50" "5" "148371305" "148371305" "subst" "0" "03575" "SH3TC2_000105" "g.148371305G>T" "47/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous; {DB:CLININrs76955068}" "Germline" "" "rs76955068" "0" "" "" "g.148991742G>T" "" "VUS" "" "0000651637" "1" "50" "5" "148384455" "148384455" "subst" "0.00260196" "03575" "SH3TC2_000023" "g.148384455T>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs146920285}" "Germline" "" "rs146920285" "0" "" "" "g.149004892T>A" "" "VUS" "" "0000651638" "1" "10" "5" "148388420" "148388420" "subst" "0.0272594" "03575" "SH3TC2_000033" "g.148388420C>T" "211/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "211 heterozygous; {DB:CLININrs55853803}" "Germline" "" "rs55853803" "0" "" "" "g.149008857C>T" "" "benign" "" "0000651639" "1" "90" "5" "148389835" "148389835" "subst" "4.06223E-5" "03575" "SH3TC2_000019" "g.148389835G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs80338934}" "Germline" "" "rs80338934" "0" "" "" "g.149010272G>A" "" "pathogenic" "" "0000651640" "1" "70" "5" "148406435" "148406435" "subst" "0.000755803" "03575" "SH3TC2_000016" "g.148406435G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338933}" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "likely pathogenic" "" "0000651641" "1" "90" "5" "148406585" "148406585" "subst" "4.47438E-5" "03575" "SH3TC2_000014" "g.148406585G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338931}" "Germline" "" "rs80338931" "0" "" "" "g.149027022G>A" "" "pathogenic" "" "0000651642" "1" "70" "5" "148407323" "148407323" "subst" "2.43863E-5" "03575" "SH3TC2_000006" "g.148407323G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338926}" "Germline" "" "rs80338926" "0" "" "" "g.149027760G>A" "" "likely pathogenic" "" "0000651643" "1" "50" "5" "148407373" "148407373" "subst" "5.29864E-5" "03575" "SH3TC2_000106" "g.148407373C>T" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199991156}" "Germline" "" "rs199991156" "0" "" "" "g.149027810C>T" "" "VUS" "" "0000651644" "1" "50" "5" "148407433" "148407433" "subst" "0.000382917" "03575" "SH3TC2_000107" "g.148407433C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs143032801}" "Germline" "" "rs143032801" "0" "" "" "g.149027870C>T" "" "VUS" "" "0000651645" "1" "50" "5" "148422281" "148422281" "subst" "0.00162046" "03575" "SH3TC2_000024" "g.148422281A>G" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs80359890}" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "VUS" "" "0000651646" "1" "90" "5" "148427493" "148427493" "subst" "4.06134E-6" "03575" "SH3TC2_000108" "g.148427493G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININSH3TC2-chr5-148427493}" "Germline" "" "" "0" "" "" "g.149047930G>A" "" "pathogenic" "" "0000655323" "0" "50" "5" "148392248" "148392248" "subst" "1.2196E-5" "02330" "SH3TC2_000109" "g.148392248T>C" "" "" "" "SH3TC2(NM_024577.4):c.3103A>G (p.I1035V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149012685T>C" "" "VUS" "" "0000655324" "0" "50" "5" "148407908" "148407908" "subst" "0" "02330" "SH3TC2_000110" "g.148407908C>T" "" "" "" "SH3TC2(NM_024577.4):c.1387G>A (p.E463K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149028345C>T" "" "VUS" "" "0000655325" "0" "70" "5" "148442545" "148442545" "del" "0" "02330" "SH3TC2_000111" "g.148442545del" "" "" "" "SH3TC2(NM_024577.4):c.43delC (p.R15Gfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149062982del" "" "likely pathogenic" "" "0000659695" "3" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01164" "SH3TC2_000016" "g.148406435G>A" "" "" "" "" "Senderek et al. 2003. Am J Hum Genet 73: 1106; Lupski et al. 2010. N Engl J Med 362: 1181; Baets et al. 2011. Brain 134: 2664; Hoyer et al. 2014. Biomed Res Int 2014: 210401" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic" "ACMG" "0000659787" "0" "50" "5" "148386569" "148386569" "subst" "0.000353297" "01164" "SH3TC2_000112" "g.148386569T>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs142451273" "0" "" "" "g.149007006T>C" "" "VUS" "ACMG" "0000660281" "0" "30" "5" "148422281" "148422281" "subst" "0.00162046" "01164" "SH3TC2_000024" "g.148422281A>G" "" "" "" "" "ACMG grading: BS1,BP4,BP5; -; Rudnik-Schöneborn et al. 2016. Neuromuscul Disord 26: 132" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "likely benign" "ACMG" "0000664038" "0" "90" "5" "148406585" "148406585" "subst" "4.47438E-5" "00006" "SH3TC2_000014" "g.148406585G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338931" "0" "" "" "g.149027022G>A" "" "pathogenic (recessive)" "" "0000664039" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664040" "0" "90" "5" "148389835" "148389835" "subst" "4.06223E-5" "00006" "SH3TC2_000019" "g.148389835G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338934" "0" "" "" "g.149010272G>A" "" "pathogenic (recessive)" "" "0000664107" "0" "70" "5" "148424194" "148424194" "subst" "0" "00006" "SH3TC2_000116" "g.148424194G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.149044631G>A" "" "likely pathogenic (recessive)" "" "0000664108" "0" "70" "5" "148407989" "148407989" "subst" "0" "00006" "SH3TC2_000115" "g.148407989A>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "AD, segregates with disease" "Germline" "" "" "0" "" "" "g.149028426A>T" "" "likely pathogenic (dominant)" "" "0000664109" "0" "70" "5" "148407774" "148407777" "del" "0" "00006" "SH3TC2_000114" "g.148407774_148407777del" "" "{PMID:Antoniadi 2015:26392352}" "" "c.1520_1523delTTGT" "AR, biparental inheritance" "Germline" "" "" "0" "" "" "g.149028211_149028214del" "" "likely pathogenic (recessive)" "" "0000664110" "0" "70" "5" "148407088" "148407088" "del" "0" "00006" "SH3TC2_000113" "g.148407088del" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.149027525del" "" "likely pathogenic (recessive)" "" "0000664123" "0" "70" "5" "148407088" "148407088" "del" "0" "00006" "SH3TC2_000113" "g.148407088del" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "" "0" "" "" "g.149027525del" "" "likely pathogenic (recessive)" "" "0000664139" "0" "90" "5" "148406585" "148406585" "subst" "4.47438E-5" "00006" "SH3TC2_000014" "g.148406585G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338931" "0" "" "" "g.149027022G>A" "" "pathogenic (recessive)" "" "0000664145" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664155" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664164" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664168" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664171" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664172" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664173" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664174" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664175" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664176" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664177" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664178" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80338933" "0" "" "" "g.149026872G>A" "" "pathogenic (recessive)" "" "0000664183" "0" "90" "5" "148422281" "148422281" "subst" "0.00162046" "00006" "SH3TC2_000024" "g.148422281A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "pathogenic (recessive)" "" "0000664184" "0" "90" "5" "148422281" "148422281" "subst" "0.00162046" "00006" "SH3TC2_000024" "g.148422281A>G" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs80359890" "0" "" "" "g.149042718A>G" "" "pathogenic (recessive)" "" "0000669835" "3" "50" "5" "148371305" "148371305" "subst" "0" "03575" "SH3TC2_000105" "g.148371305G>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs76955068}" "Germline" "" "rs76955068" "0" "" "" "g.148991742G>T" "" "VUS" "" "0000677431" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "02326" "SH3TC2_000016" "g.148406435G>A" "" "" "" "SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677432" "0" "70" "5" "148406621" "148406621" "subst" "8.13286E-6" "02327" "SH3TC2_000117" "g.148406621G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677433" "0" "50" "5" "148406713" "148406713" "subst" "0.000125996" "02330" "SH3TC2_000061" "g.148406713C>T" "" "" "" "SH3TC2(NM_024577.3):c.2582G>A (p.R861Q), SH3TC2(NM_024577.4):c.2582G>A (p.R861Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677434" "0" "50" "5" "148407374" "148407374" "subst" "2.85281E-5" "02327" "SH3TC2_000118" "g.148407374G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677435" "0" "30" "5" "148408230" "148408230" "subst" "0.000576875" "02330" "SH3TC2_000119" "g.148408230C>T" "" "" "" "SH3TC2(NM_024577.4):c.1177+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677436" "0" "50" "5" "148421064" "148421064" "subst" "0" "02330" "SH3TC2_000120" "g.148421064C>T" "" "" "" "SH3TC2(NM_024577.4):c.646G>A (p.E216K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687742" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01164" "SH3TC2_000016" "g.148406435G>A" "" "Senderek et al. 2003. AmJHumGenet 73: 1106; Baets et al. 2001. Brain 134: 2664; Lupski et al. 2013. GenomeMed 5: 57; Lupski et al. 2010. NEnglJMed 362: 1181" "" "" "" "Germline" "" "rs80338933" "0" "" "" "" "" "pathogenic" "" "0000687743" "0" "90" "5" "148407212" "148407212" "subst" "0" "01164" "SH3TC2_000122" "g.148407212G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PM3" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000689457" "0" "50" "5" "148389867" "148389867" "subst" "6.90675E-5" "01943" "SH3TC2_000121" "g.148389867G>A" "" "" "" "SH3TC2(NM_024577.3):c.3293C>T (p.T1098I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720257" "0" "30" "5" "148366612" "148366612" "subst" "0" "02330" "SH3TC2_000123" "g.148366612A>G" "" "" "" "SH3TC2(NM_024577.4):c.*17662T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720258" "0" "50" "5" "148384323" "148384323" "subst" "1.22176E-5" "02330" "SH3TC2_000124" "g.148384323C>T" "" "" "" "SH3TC2(NM_024577.4):c.3818G>A (p.C1273Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720259" "0" "10" "5" "148384455" "148384455" "subst" "0.00260196" "02330" "SH3TC2_000023" "g.148384455T>A" "" "" "" "SH3TC2(NM_024577.4):c.3686A>T (p.D1229V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720260" "0" "30" "5" "148407892" "148407892" "subst" "0.00375723" "01943" "SH3TC2_000062" "g.148407892G>A" "" "" "" "SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720261" "0" "50" "5" "148411156" "148411156" "subst" "2.03052E-5" "02329" "SH3TC2_000048" "g.148411156T>C" "" "" "" "SH3TC2(NM_024577.4):c.1096A>G (p.T366A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720262" "0" "50" "5" "148421128" "148421128" "subst" "1.21891E-5" "02330" "SH3TC2_000125" "g.148421128T>A" "" "" "" "SH3TC2(NM_024577.4):c.582A>T (p.E194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720263" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "01943" "SH3TC2_000024" "g.148422281A>G" "" "" "" "SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787033" "3" "70" "5" "148424095" "148424095" "subst" "0" "00006" "SH3TC2_000127" "g.148424095C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.149044532C>T" "" "likely pathogenic" "" "0000787034" "3" "90" "5" "148417928" "148417928" "subst" "0" "00006" "SH3TC2_000126" "g.148417928T>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.149038365T>A" "" "pathogenic" "" "0000787497" "2" "90" "5" "148406807" "148406808" "del" "0" "00000" "SH3TC2_000011" "g.148406807_148406808del" "" "0" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.149027244_149027245del" "" "pathogenic" "" "0000801959" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "01943" "SH3TC2_000016" "g.148406435G>A" "" "" "" "SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000829126" "3" "90" "5" "148392149" "148392149" "subst" "4.06408E-6" "00006" "SH3TC2_000128" "g.148392149G>A" "" "{PMID:Ababneh 2021:34624274}" "" "c.3203C>T (Leu1359Pro)" "" "Germline" "" "rs774698284" "0" "" "" "g.149012586G>A" "" "pathogenic (recessive)" "" "0000831394" "3" "90" "5" "148406696" "148406696" "subst" "0" "04212" "SH3TC2_000132" "g.148406696G>A" "" "{PMID:Kanwal 2021:34193129}" "" "" "" "Germline" "" "" "0" "" "" "g.149027133G>A" "" "pathogenic (recessive)" "" "0000831395" "3" "90" "5" "148386469" "148386469" "subst" "1.62443E-5" "04212" "SH3TC2_000129" "g.148386469C>T" "" "{PMID:Kanwal 2021:34193129}" "" "" "" "Germline" "yes" "" "0" "" "" "g.149006906C>T" "" "pathogenic (recessive)" "" "0000831639" "2" "70" "5" "148417930" "148417930" "subst" "1.21832E-5" "04209" "SH3TC2_000133" "g.148417930C>T" "4/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G310E" "" "Germline" "" "" "0" "" "" "g.149038367C>T" "" "likely pathogenic (recessive)" "" "0000831656" "1" "70" "5" "148406464" "148406464" "subst" "4.0625E-6" "04209" "SH3TC2_000131" "g.148406464T>C" "2/198 patients" "{PMID:Lee 2019:31227790}" "" "p.E944G" "" "Germline" "" "" "0" "" "" "g.149026901T>C" "" "likely pathogenic (recessive)" "" "0000831658" "21" "70" "5" "148417930" "148417930" "subst" "1.21832E-5" "04209" "SH3TC2_000133" "g.148417930C>T" "4/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G310E" "" "Germline" "" "" "0" "" "" "g.149038367C>T" "" "likely pathogenic (recessive)" "" "0000831659" "10" "70" "5" "148406464" "148406464" "subst" "4.0625E-6" "04209" "SH3TC2_000131" "g.148406464T>C" "2/198 patients" "{PMID:Lee 2019:31227790}" "" "p.E944G" "" "Germline" "" "" "0" "" "" "g.149026901T>C" "" "likely pathogenic (recessive)" "" "0000831816" "11" "70" "5" "148417930" "148417930" "subst" "1.21832E-5" "04209" "SH3TC2_000133" "g.148417930C>T" "4/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G310E" "" "Germline" "" "" "0" "" "" "g.149038367C>T" "" "likely pathogenic (recessive)" "" "0000831818" "21" "70" "5" "148389888" "148389888" "subst" "4.06322E-6" "04209" "SH3TC2_000130" "g.148389888C>A" "2/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G1091V" "" "Germline" "" "" "0" "" "" "g.149010325C>A" "" "pathogenic (recessive)" "" "0000831831" "21" "70" "5" "148417930" "148417930" "subst" "1.21832E-5" "04209" "SH3TC2_000133" "g.148417930C>T" "4/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G310E" "" "Germline" "" "" "0" "" "" "g.149038367C>T" "" "likely pathogenic (recessive)" "" "0000831832" "10" "70" "5" "148389888" "148389888" "subst" "4.06322E-6" "04209" "SH3TC2_000130" "g.148389888C>A" "2/198 patients" "{PMID:Lee 2019:31227790}" "" "p.G1091V" "" "Germline" "" "" "0" "" "" "g.149010325C>A" "" "likely pathogenic (recessive)" "" "0000832574" "3" "90" "5" "148420165" "148420165" "subst" "4.06134E-6" "04188" "SH3TC2_000134" "g.148420165A>G" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PVS1-PM2-PP3" "Germline" "" "rs139052887" "" "" "" "g.149040602A>G" "SCV001249582.3, SCV001388540.1" "pathogenic (recessive)" "ACMG" "0000833034" "0" "70" "5" "148424198" "148424198" "subst" "2.03303E-5" "04209" "SH3TC2_000137" "g.148424198G>C" "1/3 patients" "{PMID:Zhao 2018:29336362}" "" "p.L95V (c.283C>G)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149044635G>C" "" "VUS" "ACMG" "0000833035" "0" "70" "5" "148392208" "148392208" "subst" "5.68916E-5" "04209" "SH3TC2_000136" "g.148392208A>G" "1/3 patients" "{PMID:Zhao 2018:29336362}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149012645A>G" "" "VUS" "ACMG" "0000833206" "10" "50" "5" "148389847" "148389847" "subst" "0.000190899" "04209" "SH3TC2_000135" "g.148389847C>T" "1/3 patients" "{PMID:Zhao 2018:29336362}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149010284C>T" "" "VUS" "ACMG" "0000841062" "3" "90" "5" "148407513" "148407513" "subst" "0" "00435" "SH3TC2_000138" "g.148407513C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.149027950C>G" "" "pathogenic (recessive)" "" "0000841203" "3" "90" "5" "148420978" "148420978" "subst" "0" "00435" "SH3TC2_000139" "g.148420978C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841208" "3" "90" "5" "148418040" "148418040" "dup" "0" "00435" "SH3TC2_000091" "g.148418040dup" "" "" "" "819dupT" "" "Germline" "yes" "" "0" "" "" "g.149038477dup" "" "pathogenic (recessive)" "" "0000841212" "3" "90" "5" "148418040" "148418040" "dup" "0" "00435" "SH3TC2_000091" "g.148418040dup" "" "" "" "819dupT" "" "Germline" "yes" "" "0" "" "" "g.149038477dup" "" "pathogenic (recessive)" "" "0000847159" "1" "90" "5" "148406864" "148406864" "subst" "0" "00006" "SH3TC2_000141" "g.148406864G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.149027301G>A" "" "pathogenic" "ACMG" "0000847164" "1" "90" "5" "148389871" "148389871" "del" "0" "00006" "SH3TC2_000140" "g.148389871del" "" "{PMID:Thomas 2022:34085946}" "" "c.3291delG" "" "Germline" "" "" "0" "" "" "g.149010308del" "" "pathogenic" "" "0000847181" "2" "90" "5" "148384473" "148384473" "subst" "1.22154E-5" "00006" "SH3TC2_000039" "g.148384473C>T" "" "{PMID:Thomas 2022:34085946}" "" "c.3676–8G>A" "" "Germline" "" "" "0" "" "" "g.149004910C>T" "" "pathogenic" "" "0000847183" "2" "90" "5" "148407323" "148407323" "subst" "2.43863E-5" "00006" "SH3TC2_000006" "g.148407323G>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.149027760G>A" "" "pathogenic" "" "0000847475" "3" "90" "5" "148389835" "148389835" "subst" "4.06223E-5" "00000" "SH3TC2_000019" "g.148389835G>A" "" "" "" "c.3325C>T" "" "Germline" "" "rs80338934" "0" "" "" "" "" "pathogenic" "" "0000847483" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00000" "SH3TC2_000016" "g.148406435G>A" "" "" "" "c.2860C>T + c.3377T>C" "" "Germline" "" "rs80338933" "0" "" "" "" "" "pathogenic" "" "0000847484" "0" "90" "5" "148388515" "148388515" "subst" "0" "00000" "SH3TC2_000068" "g.148388515A>G" "" "" "" "c.2860C>T + c.3377T>C" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000847487" "3" "90" "5" "148386502" "148386502" "subst" "0" "00000" "SH3TC2_000070" "g.148386502G>T" "" "" "" "c.3617C>A" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000847489" "0" "90" "5" "148406653" "148406653" "subst" "2.03209E-5" "00000" "SH3TC2_000013" "g.148406653T>C" "" "" "" "c.2642A>G + c.3596G>A" "" "Germline" "" "rs80338930" "0" "" "" "" "" "pathogenic" "" "0000847490" "0" "90" "5" "148386523" "148386523" "subst" "0" "00000" "SH3TC2_000069" "g.148386523C>T" "" "" "" "c.2642A>G + c.3596G>A" "" "Germline" "" "rs761972717" "0" "" "" "" "" "pathogenic" "" "0000850830" "0" "10" "5" "148406275" "148406275" "subst" "0.00111259" "02330" "SH3TC2_000142" "g.148406275G>A" "" "" "" "SH3TC2(NM_024577.4):c.2913C>T (p.S971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850831" "0" "50" "5" "148406660" "148406660" "subst" "0" "02330" "SH3TC2_000143" "g.148406660T>C" "" "" "" "SH3TC2(NM_024577.4):c.2635A>G (p.M879V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850832" "0" "10" "5" "148421152" "148421152" "subst" "0.000813101" "02330" "SH3TC2_000145" "g.148421152G>A" "" "" "" "SH3TC2(NM_024577.4):c.558C>T (p.S186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859812" "0" "30" "5" "148407275" "148407275" "subst" "0" "01943" "SH3TC2_000144" "g.148407275T>C" "" "" "" "SH3TC2(NM_024577.3):c.2020A>G (p.S674G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886669" "0" "30" "5" "148366451" "148366451" "subst" "0" "02330" "SH3TC2_000146" "g.148366451G>A" "" "" "" "SH3TC2(NM_024577.4):c.*17823C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886670" "0" "10" "5" "148388530" "148388530" "subst" "0.000856867" "02330" "SH3TC2_000147" "g.148388530G>A" "" "" "" "SH3TC2(NM_024577.4):c.3362C>T (p.A1121V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886671" "0" "30" "5" "148389845" "148389845" "subst" "0.000942316" "02326" "SH3TC2_000044" "g.148389845C>T" "" "" "" "SH3TC2(NM_024577.3):c.3315G>A (p.V1105=), SH3TC2(NM_024577.4):c.3315G>A (p.V1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886672" "0" "10" "5" "148406414" "148406414" "subst" "0.0042693" "02330" "SH3TC2_000148" "g.148406414C>T" "" "" "" "SH3TC2(NM_024577.4):c.2872+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886673" "0" "30" "5" "148406427" "148406427" "subst" "0.00138535" "02326" "SH3TC2_000100" "g.148406427T>C" "" "" "" "SH3TC2(NM_024577.3):c.2868A>G (p.L956=), SH3TC2(NM_024577.4):c.2868A>G (p.L956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886674" "0" "30" "5" "148407852" "148407852" "subst" "0.000447314" "02326" "SH3TC2_000087" "g.148407852G>A" "" "" "" "SH3TC2(NM_024577.3):c.1443C>T (p.D481=), SH3TC2(NM_024577.4):c.1443C>T (p.D481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886675" "0" "10" "5" "148407945" "148407945" "subst" "0.0548911" "02326" "SH3TC2_000063" "g.148407945C>T" "" "" "" "SH3TC2(NM_024577.3):c.1350G>A (p.P450=), SH3TC2(NM_024577.4):c.1350G>A (p.P450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886676" "0" "50" "5" "148407973" "148407973" "subst" "4.07213E-6" "02330" "SH3TC2_000149" "g.148407973A>G" "" "" "" "SH3TC2(NM_024577.4):c.1322T>C (p.L441P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912260" "0" "30" "5" "148421021" "148421021" "subst" "0.000882609" "02330" "SH3TC2_000092" "g.148421021A>G" "" "" "" "SH3TC2(NM_024577.3):c.689T>C (p.(Val230Ala)), SH3TC2(NM_024577.4):c.689T>C (p.V230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929039" "0" "90" "5" "148422402" "148422402" "subst" "1.21852E-5" "02330" "SH3TC2_000150" "g.148422402T>G" "" "" "" "SH3TC2(NM_024577.4):c.386-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000939873" "1" "70" "5" "148406864" "148406864" "subst" "0" "00006" "SH3TC2_000141" "g.148406864G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.149027301G>A" "" "likely pathogenic (recessive)" "" "0000939903" "2" "50" "5" "148384473" "148384473" "subst" "1.22154E-5" "00006" "SH3TC2_000039" "g.148384473C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.149004910C>T" "" "VUS" "" "0000946129" "0" "50" "5" "148424197" "148424197" "subst" "0" "00006" "SH3TC2_000151" "g.148424197A>C" "" "{PMID:Westra 2019:31127727}" "" "" "rec (comp het); further healthy family members not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.149044634A>C" "" "VUS" "" "0000946210" "0" "50" "5" "148389835" "148389835" "subst" "4.06223E-5" "00006" "SH3TC2_000019" "g.148389835G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.149010272G>A" "" "VUS" "" "0000948504" "0" "30" "5" "148407278" "148407278" "subst" "6.09102E-5" "02327" "SH3TC2_000152" "g.148407278C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948505" "0" "50" "5" "148407574" "148407574" "subst" "0.000118174" "02327" "SH3TC2_000153" "g.148407574T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948506" "0" "30" "5" "148421050" "148421050" "subst" "8.94222E-5" "02330" "SH3TC2_000154" "g.148421050C>G" "" "" "" "SH3TC2(NM_024577.4):c.660G>C (p.V220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948507" "0" "30" "5" "148442608" "148442608" "subst" "8.00336E-5" "02330" "SH3TC2_000155" "g.148442608C>T" "" "" "" "SH3TC2(NM_024577.4):c.-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976639" "0" "50" "5" "148388512" "148388512" "subst" "0.000962429" "02325" "SH3TC2_000082" "g.148388512C>T" "" "" "" "SH3TC2(NM_024577.3):c.3380G>A (p.R1127Q), SH3TC2(NM_024577.4):c.3380G>A (p.R1127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976640" "0" "10" "5" "148407822" "148407822" "subst" "0.00053265" "02330" "SH3TC2_000156" "g.148407822G>A" "" "" "" "SH3TC2(NM_024577.4):c.1473C>T (p.F491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976641" "0" "30" "5" "148408100" "148408100" "subst" "0.000309013" "02330" "SH3TC2_000157" "g.148408100A>G" "" "" "" "SH3TC2(NM_024577.4):c.1195T>C (p.F399L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976642" "0" "50" "5" "148422281" "148422281" "subst" "0.00162046" "02325" "SH3TC2_000024" "g.148422281A>G" "" "" "" "SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976643" "0" "10" "5" "148431690" "148431691" "del" "0" "02330" "SH3TC2_000158" "g.148431690_148431691del" "" "" "" "SH3TC2(NM_024577.4):c.151+15_151+16delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994771" "0" "30" "5" "148406331" "148406331" "subst" "8.12176E-6" "02330" "SH3TC2_000159" "g.148406331G>A" "" "" "" "SH3TC2(NM_024577.4):c.2873-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994772" "0" "70" "5" "148406435" "148406435" "subst" "0.000755803" "01804" "SH3TC2_000016" "g.148406435G>A" "" "" "" "SH3TC2(NM_024577.3):c.2860C>T (p.R954*, p.(Arg954*)), SH3TC2(NM_024577.4):c.2860C>T (p.R954*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994773" "0" "50" "5" "148406620" "148406620" "subst" "4.06646E-6" "02330" "SH3TC2_000160" "g.148406620T>G" "" "" "" "SH3TC2(NM_024577.4):c.2675A>C (p.Q892P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994774" "0" "30" "5" "148417965" "148417965" "subst" "2.84278E-5" "02330" "SH3TC2_000036" "g.148417965G>A" "" "" "" "SH3TC2(NM_024577.4):c.894C>T (p.I298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014094" "0" "50" "5" "148386509" "148386509" "subst" "4.06105E-5" "02330" "SH3TC2_000161" "g.148386509T>C" "" "" "" "SH3TC2(NM_024577.4):c.3610A>G (p.K1204E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014095" "0" "10" "5" "148407208" "148407208" "subst" "0.00146587" "02330" "SH3TC2_000162" "g.148407208T>C" "" "" "" "SH3TC2(NM_024577.4):c.2087A>G (p.H696R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034996" "0" "10" "5" "148386525" "148386525" "subst" "0.395292" "02326" "SH3TC2_000040" "g.148386525T>G" "" "" "" "SH3TC2(NM_024577.3):c.3594A>C (p.P1198=), SH3TC2(NM_024577.4):c.3594A>C (p.P1198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034997" "0" "10" "5" "148388879" "148388879" "subst" "0" "02326" "SH3TC2_000163" "g.148388879C>T" "" "" "" "SH3TC2(NM_024577.3):c.3328-315G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034998" "0" "10" "5" "148389763" "148389763" "subst" "0" "02326" "SH3TC2_000164" "g.148389763G>A" "" "" "" "SH3TC2(NM_024577.3):c.3327+70C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034999" "0" "10" "5" "148396277" "148396277" "subst" "0" "02326" "SH3TC2_000165" "g.148396277A>G" "" "" "" "SH3TC2(NM_024577.3):c.3054-3980T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035000" "0" "10" "5" "148406032" "148406032" "subst" "0" "02326" "SH3TC2_000166" "g.148406032C>T" "" "" "" "SH3TC2(NM_024577.3):c.3053+103G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035001" "0" "10" "5" "148406386" "148406386" "subst" "0.195571" "02326" "SH3TC2_000167" "g.148406386T>C" "" "" "" "SH3TC2(NM_024577.3):c.2872+37A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035002" "0" "50" "5" "148407253" "148407253" "subst" "0" "01804" "SH3TC2_000168" "g.148407253T>A" "" "" "" "SH3TC2(NM_024577.4):c.2042A>T (p.(Asp681Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035003" "0" "10" "5" "148407672" "148407672" "subst" "0.000252129" "02330" "SH3TC2_000169" "g.148407672C>T" "" "" "" "SH3TC2(NM_024577.4):c.1623G>A (p.K541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035004" "0" "10" "5" "148407708" "148407708" "subst" "0.978761" "02326" "SH3TC2_000052" "g.148407708A>C" "" "" "" "SH3TC2(NM_024577.3):c.1587T>G (p.R529=), SH3TC2(NM_024577.4):c.1587T>G (p.R529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035005" "0" "10" "5" "148408101" "148408101" "subst" "0.440094" "02326" "SH3TC2_000055" "g.148408101A>G" "" "" "" "SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035006" "0" "10" "5" "148411369" "148411369" "subst" "0" "02326" "SH3TC2_000170" "g.148411369C>T" "" "" "" "SH3TC2(NM_024577.3):c.1002-119G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035007" "0" "10" "5" "148422079" "148422079" "subst" "0" "02326" "SH3TC2_000171" "g.148422079G>A" "" "" "" "SH3TC2(NM_024577.3):c.529+178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035008" "0" "10" "5" "148431964" "148431964" "subst" "0" "02326" "SH3TC2_000172" "g.148431964G>A" "" "" "" "SH3TC2(NM_024577.3):c.53-161C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035009" "0" "10" "5" "148442297" "148442297" "subst" "0" "02326" "SH3TC2_000173" "g.148442297C>T" "" "" "" "SH3TC2(NM_024577.3):c.52+237G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046018" "0" "30" "5" "148388512" "148388512" "subst" "0.000962429" "02326" "SH3TC2_000082" "g.148388512C>T" "" "" "" "SH3TC2(NM_024577.3):c.3380G>A (p.R1127Q), SH3TC2(NM_024577.4):c.3380G>A (p.R1127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049723" "0" "50" "5" "148407950" "148407950" "subst" "0" "03779" "SH3TC2_000174" "g.148407950C>T" "" "" "" "" "" "Unknown" "" "rs1754118301" "0" "" "" "" "" "VUS" "" "0001059147" "0" "90" "5" "148406435" "148406435" "subst" "0.000755803" "00006" "SH3TC2_000016" "g.148406435G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.149026872G>A" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SH3TC2 ## Count = 284 "{{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}}" "0000036179" "00018860" "75" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Arg529Cys)" "11" "0000064274" "00018860" "90" "1747" "0" "1748" "0" "c.1747_1748del" "r.(?)" "p.(Arg583Alafs*4)" "" "0000064275" "00018860" "10" "645" "0" "645" "0" "c.645C>T" "r.(=)" "p.(=)" "" "0000064276" "00018860" "50" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" "" "0000064277" "00018860" "10" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" "" "0000064278" "00018860" "50" "152" "-64" "152" "-64" "c.152-64T>C" "r.(=)" "p.(=)" "" "0000064279" "00018860" "50" "894" "0" "894" "0" "c.894C>T" "r.(=)" "p.(=)" "" "0000064280" "00018860" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000236387" "00018860" "90" "530" "-2" "530" "-2" "c.530-2A>T" "r.spl" "p.?" "5i" "0000238525" "00018860" "90" "28" "0" "28" "0" "c.28del" "r.(?)" "p.(Glu10Serfs*4)" "1" "0000238526" "00018860" "90" "217" "0" "227" "0" "c.217_227delinsCCAGTAA" "r.(?)" "p.(Ala73Profs*55)" "3" "0000238527" "00018860" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "5" "0000238528" "00018860" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Thr199Ile)" "6" "0000238529" "00018860" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "6" "0000238530" "00018860" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Trp307*)" "8" "0000238531" "00018860" "90" "1285" "0" "1285" "0" "c.1285G>T" "r.(?)" "p.(Glu429*)" "11" "0000238532" "00018860" "90" "1747" "0" "1748" "0" "c.1747_1748del" "r.(?)" "p.(Arg583Alafs*4)" "11" "0000238533" "00018860" "90" "1894" "0" "1897" "0" "c.1894_1897delinsAAA" "r.(?)" "p.(Glu632Lysfs*13)" "11" "0000238534" "00018860" "90" "1906" "0" "1922" "0" "c.1906_1922delinsAGGGC" "r.(?)" "p.(Cys636_Arg641delinsArgAla)" "11" "0000238535" "00018860" "90" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Glu657Lys)" "11" "0000238536" "00018860" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "11" "0000238537" "00018860" "90" "1982" "0" "1982" "0" "c.1982T>C" "r.(?)" "p.(Leu661Pro)" "11" "0000238538" "00018860" "90" "1985" "0" "1985" "0" "c.1985T>C" "r.(?)" "p.(Leu662Pro)" "11" "0000238539" "00018860" "90" "2211" "0" "2213" "0" "c.2211_2213del" "r.(?)" "p.(Cys737*)" "11" "0000238540" "00018860" "90" "2491" "0" "2492" "0" "c.2491_2492del" "r.(?)" "p.(Leu832Hisfs*8)" "11" "0000238541" "00018860" "90" "2633" "0" "2633" "0" "c.2633C>A" "r.(?)" "p.(Ala878Asp)" "11" "0000238542" "00018860" "90" "2642" "0" "2642" "0" "c.2642A>G" "r.(?)" "p.(Asn881Ser)" "11" "0000238543" "00018860" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904*)" "11" "0000238544" "00018860" "90" "2829" "0" "2829" "0" "c.2829T>G" "r.(?)" "p.(Tyr943*)" "11" "0000238545" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "11" "0000238546" "00018860" "90" "3305" "0" "3305" "0" "c.3305del" "r.(?)" "p.(His1102Leufs*14)" "14" "0000238547" "00018860" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109*)" "14" "0000238548" "00018860" "90" "3326" "0" "3326" "0" "c.3326G>C" "r.(?)" "p.(Arg1109Pro)" "14" "0000238549" "00018860" "90" "3341" "0" "3341" "0" "c.3341del" "r.(?)" "p.(Pro1114Leufs*2)" "15" "0000238550" "00018860" "90" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Gln1201*)" "16" "0000238551" "00018860" "90" "3686" "0" "3686" "0" "c.3686A>T" "r.(?)" "p.(Asp1229Val)" "17" "0000246321" "00018860" "10" "1587" "0" "1587" "0" "c.1587T>G" "r.(?)" "p.(Arg529=)" "" "0000246330" "00018860" "10" "1194" "0" "1194" "0" "c.1194T>C" "r.(?)" "p.(Gly398=)" "" "0000246393" "00018860" "90" "1982" "0" "1982" "0" "c.1982T>C" "r.(?)" "p.(Leu661Pro)" "" "0000246394" "00018860" "90" "2829" "0" "2829" "0" "c.2829T>G" "r.(?)" "p.(Tyr943Ter)" "" "0000248362" "00018860" "10" "1587" "0" "1587" "0" "c.1587T>G" "r.(?)" "p.(Arg529=)" "" "0000252440" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000295810" "00018860" "10" "21570" "0" "21570" "0" "c.*17703A>G" "r.(=)" "p.(=)" "" "0000295812" "00018860" "50" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "" "0000295813" "00018860" "10" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000295814" "00018860" "10" "1402" "0" "1402" "0" "c.1402G>T" "r.(?)" "p.(Ala468Ser)" "" "0000295815" "00018860" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000295816" "00018860" "90" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529His)" "" "0000295817" "00018860" "30" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Ser589=)" "" "0000295818" "00018860" "90" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Glu657Lys)" "" "0000295819" "00018860" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000295820" "00018860" "70" "2642" "0" "2642" "0" "c.2642A>G" "r.(?)" "p.(Asn881Ser)" "" "0000295821" "00018860" "70" "2642" "0" "2642" "0" "c.2642A>T" "r.(?)" "p.(Asn881Ile)" "" "0000295822" "00018860" "90" "2680" "0" "2680" "0" "c.2680C>T" "r.(?)" "p.(Pro894Ser)" "" "0000295823" "00018860" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904Ter)" "" "0000295824" "00018860" "70" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Lys93=)" "" "0000295825" "00018860" "30" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(His938Tyr)" "" "0000295826" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" "0000295827" "00018860" "30" "3315" "0" "3315" "0" "c.3315G>A" "r.(?)" "p.(Val1105=)" "" "0000295828" "00018860" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109Ter)" "" "0000295829" "00018860" "30" "3417" "0" "3417" "0" "c.3417C>T" "r.(?)" "p.(Leu1139=)" "" "0000295830" "00018860" "50" "3457" "0" "3457" "0" "c.3457G>A" "r.(?)" "p.(Ala1153Thr)" "" "0000295831" "00018860" "10" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" "" "0000295832" "00018860" "10" "3594" "0" "3594" "0" "c.3594A>C" "r.(?)" "p.(Pro1198=)" "" "0000295833" "00018860" "10" "3594" "0" "3594" "0" "c.3594A>G" "r.(?)" "p.(Pro1198=)" "" "0000295834" "00018860" "90" "3676" "-8" "3676" "-8" "c.3676-8G>A" "r.(=)" "p.(=)" "" "0000295835" "00018860" "10" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Gly171Glu)" "" "0000295836" "00018860" "90" "530" "-2" "530" "-2" "c.530-2A>G" "r.spl?" "p.?" "" "0000295837" "00018860" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Ser215=)" "" "0000295838" "00018860" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Trp307Ter)" "" "0000302104" "00018860" "50" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Arg861Gln)" "" "0000302105" "00018860" "10" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" "" "0000330661" "00018860" "50" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Val230Ala)" "" "0000339460" "00018860" "10" "3594" "0" "3594" "0" "c.3594A>C" "r.(?)" "p.(Pro1198=)" "" "0000339461" "00018860" "10" "1194" "0" "1194" "0" "c.1194T>C" "r.(?)" "p.(Gly398=)" "" "0000340685" "00018860" "10" "1587" "0" "1587" "0" "c.1587T>G" "r.(?)" "p.(Arg529=)" "" "0000341460" "00018860" "10" "1402" "0" "1402" "0" "c.1402G>T" "r.(?)" "p.(Ala468Ser)" "" "0000343510" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" "0000346296" "00018860" "50" "2527" "0" "2527" "0" "c.2527G>A" "r.(?)" "p.(Gly843Arg)" "" "0000346678" "00018860" "50" "925" "0" "925" "0" "c.925A>G" "r.(?)" "p.(Ile309Val)" "" "0000346948" "00018860" "50" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Leu173Met)" "" "0000349821" "00018860" "50" "1573" "0" "1573" "0" "c.1573T>C" "r.(?)" "p.(Trp525Arg)" "" "0000349843" "00018860" "90" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Trp709Ter)" "" "0000349943" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000350719" "00018860" "70" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Lys93=)" "" "0000350925" "00018860" "90" "543" "0" "543" "0" "c.543C>A" "r.(?)" "p.(Cys181Ter)" "" "0000438293" "00018860" "70" "1894" "0" "1897" "0" "c.1894_1897delinsAAA" "r.(?)" "p.(Glu632Lysfs*13)" "" "0000438529" "00018860" "90" "2910" "0" "2910" "0" "c.2910C>A" "r.(?)" "p.(Tyr970*)" "" "0000438530" "00018860" "90" "2910" "0" "2910" "0" "c.2910C>A" "r.(?)" "p.(Tyr970*)" "" "0000438531" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000438532" "00018860" "90" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "" "0000438533" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000438534" "00018860" "90" "3596" "0" "3596" "0" "c.3596G>A" "r.(?)" "p.(Trp1199*)" "" "0000438535" "00018860" "90" "2642" "0" "2642" "0" "c.2642A>G" "r.(?)" "p.(Asn881Ser)" "" "0000438536" "00018860" "90" "3617" "0" "3617" "0" "c.3617C>A" "r.(?)" "p.(Ala1206Asp)" "" "0000439729" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.Arg954*" "" "0000439733" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.Tyr169His" "" "0000439753" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.Arg954*" "" "0000442485" "00018860" "50" "2339" "0" "2339" "0" "c.2339T>C" "r.(?)" "p.Leu780Pro" "" "0000455061" "00018860" "70" "152" "-7" "152" "-4" "c.152-7_152-4del" "r.(?)" "p.(?)" "" "0000455062" "00018860" "90" "2339" "0" "2339" "0" "c.2339T>C" "r.(?)" "p.(Leu780Pro)" "" "0000455063" "00018860" "90" "1679" "0" "1679" "0" "c.1679del" "r.(?)" "p.(Gly560Glufs*21)" "" "0000455064" "00018860" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000455065" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000455066" "00018860" "70" "1865" "0" "1865" "0" "c.1865A>C" "r.(?)" "p.(Gln622Pro)" "" "0000455067" "00018860" "90" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Gln756*)" "" "0000455068" "00018860" "90" "1255" "0" "1255" "0" "c.1255del" "r.(?)" "p.(Ser419Profs*38)" "" "0000455069" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000455070" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000524748" "00018860" "10" "21770" "0" "21770" "0" "c.*17903A>G" "r.(=)" "p.(=)" "" "0000524749" "00018860" "30" "21664" "0" "21664" "0" "c.*17797C>T" "r.(=)" "p.(=)" "" "0000524750" "00018860" "10" "3834" "0" "3834" "0" "c.3834G>A" "r.(?)" "p.(Ala1278=)" "" "0000524751" "00018860" "10" "3795" "0" "3795" "0" "c.3795G>C" "r.(?)" "p.(Leu1265=)" "" "0000524752" "00018860" "30" "3795" "0" "3795" "0" "c.3795G>C" "r.(?)" "p.(Leu1265=)" "" "0000524753" "00018860" "30" "3723" "0" "3723" "0" "c.3723G>A" "r.(?)" "p.(Ala1241=)" "" "0000524754" "00018860" "90" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Gln1201Ter)" "" "0000524755" "00018860" "70" "3596" "0" "3596" "0" "c.3596G>A" "r.(?)" "p.(Trp1199Ter)" "" "0000524756" "00018860" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127Gln)" "" "0000524757" "00018860" "30" "3327" "13" "3327" "13" "c.3327+13T>A" "r.(=)" "p.(=)" "" "0000524758" "00018860" "90" "3326" "0" "3326" "0" "c.3326G>C" "r.(?)" "p.(Arg1109Pro)" "" "0000524759" "00018860" "50" "3305" "0" "3305" "0" "c.3305A>G" "r.(?)" "p.(His1102Arg)" "" "0000524760" "00018860" "10" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Ala745=)" "" "0000524761" "00018860" "30" "2033" "0" "2033" "0" "c.2033T>C" "r.(?)" "p.(Phe678Ser)" "" "0000524762" "00018860" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Asp481=)" "" "0000524763" "00018860" "70" "1407" "0" "1407" "0" "c.1407del" "r.(?)" "p.(Ile470TyrfsTer54)" "" "0000524764" "00018860" "30" "1299" "0" "1299" "0" "c.1299G>C" "r.(?)" "p.(Ser433=)" "" "0000524765" "00018860" "90" "1178" "-1" "1178" "-1" "c.1178-1G>A" "r.spl?" "p.?" "" "0000524766" "00018860" "70" "819" "0" "819" "0" "c.819dup" "r.(?)" "p.(Lys274Ter)" "" "0000524767" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000524768" "00018860" "50" "233" "0" "239" "0" "c.233_239del" "r.(?)" "p.(Leu78HisfsTer49)" "" "0000524769" "00018860" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Phe)" "" "0000524770" "00018860" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Thr27Ala)" "" "0000524771" "00018860" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Thr27Ala)" "" "0000524772" "00018860" "50" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Ser)" "" "0000598343" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000598345" "00018860" "50" "1580" "0" "1580" "0" "c.1580A>C" "r.(?)" "p.(His527Pro)" "" "0000609561" "00018860" "50" "3512" "0" "3512" "0" "c.3512G>T" "r.(?)" "p.(Arg1171Leu)" "" "0000609562" "00018860" "30" "3479" "-20" "3479" "-20" "c.3479-20C>T" "r.(=)" "p.(=)" "" "0000609563" "00018860" "10" "2868" "0" "2868" "0" "c.2868A>G" "r.(?)" "p.(Leu956=)" "" "0000609564" "00018860" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000609565" "00018860" "30" "385" "4" "385" "8" "c.385+4_385+8del" "r.spl?" "p.?" "" "0000609566" "00018860" "30" "-110" "0" "-110" "0" "c.-110C>T" "r.(?)" "p.(=)" "" "0000621502" "00018860" "30" "1002" "-12" "1002" "-12" "c.1002-12G>T" "r.(=)" "p.(=)" "" "0000621503" "00018860" "10" "477" "0" "477" "0" "c.477T>A" "r.(?)" "p.(Ser159=)" "" "0000651636" "00018860" "50" "16836" "0" "16836" "0" "c.*12969C>A" "r.(=)" "p.(=)" "" "0000651637" "00018860" "50" "3686" "0" "3686" "0" "c.3686A>T" "r.(?)" "p.(Asp1229Val)" "" "0000651638" "00018860" "10" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" "" "0000651639" "00018860" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109*)" "" "0000651640" "00018860" "70" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000651641" "00018860" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904*)" "" "0000651642" "00018860" "70" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000651643" "00018860" "50" "1922" "0" "1922" "0" "c.1922G>A" "r.(?)" "p.(Arg641His)" "" "0000651644" "00018860" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000651645" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000651646" "00018860" "90" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Gln71*)" "" "0000655323" "00018860" "50" "3103" "0" "3103" "0" "c.3103A>G" "r.(?)" "p.(Ile1035Val)" "" "0000655324" "00018860" "50" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Glu463Lys)" "" "0000655325" "00018860" "70" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Arg15GlyfsTer19)" "" "0000659695" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000659787" "00018860" "50" "3550" "0" "3550" "0" "c.3550A>G" "r.(?)" "p.(Met1184Val)" "" "0000660281" "00018860" "30" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000664038" "00018860" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904*)" "" "0000664039" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664040" "00018860" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109*)" "" "0000664107" "00018860" "70" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ser96Leu)" "" "0000664108" "00018860" "70" "1306" "0" "1306" "0" "c.1306T>A" "r.(?)" "p.(Ser436Thr)" "" "0000664109" "00018860" "70" "1520" "0" "1523" "0" "c.1520_1523del" "r.(?)" "p.(Phe507Trpfs*16)" "" "0000664110" "00018860" "70" "2208" "0" "2208" "0" "c.2208del" "r.(?)" "p.(Cys737Alafs*14)" "" "0000664123" "00018860" "70" "2208" "0" "2208" "0" "c.2208del" "r.(?)" "p.(Cys737Alafs*14)" "" "0000664139" "00018860" "90" "2710" "0" "2710" "0" "c.2710C>T" "r.(?)" "p.(Arg904*)" "" "0000664145" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664155" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664164" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664168" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664171" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664172" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664173" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664174" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664175" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664176" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664177" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664178" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000664183" "00018860" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000664184" "00018860" "90" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000669835" "00018860" "50" "16836" "0" "16836" "0" "c.*12969C>A" "r.(=)" "p.(=)" "" "0000677431" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" "0000677432" "00018860" "70" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(Gln892Ter)" "" "0000677433" "00018860" "50" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Arg861Gln)" "" "0000677434" "00018860" "50" "1921" "0" "1921" "0" "c.1921C>T" "r.(?)" "p.(Arg641Cys)" "" "0000677435" "00018860" "30" "1177" "10" "1177" "10" "c.1177+10G>A" "r.(=)" "p.(=)" "" "0000677436" "00018860" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Glu216Lys)" "" "0000687742" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "" "0000687743" "00018860" "90" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Gln695*)" "" "0000689457" "00018860" "50" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Thr1098Ile)" "" "0000720257" "00018860" "30" "21529" "0" "21529" "0" "c.*17662T>C" "r.(=)" "p.(=)" "" "0000720258" "00018860" "50" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Cys1273Tyr)" "" "0000720259" "00018860" "10" "3686" "0" "3686" "0" "c.3686A>T" "r.(?)" "p.(Asp1229Val)" "" "0000720260" "00018860" "30" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "" "0000720261" "00018860" "50" "1096" "0" "1096" "0" "c.1096A>G" "r.(?)" "p.(Thr366Ala)" "" "0000720262" "00018860" "50" "582" "0" "582" "0" "c.582A>T" "r.(?)" "p.(Glu194Asp)" "" "0000720263" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000787033" "00018860" "70" "385" "1" "385" "1" "c.385+1G>A" "r.spl" "p.?" "4i" "0000787034" "00018860" "90" "931" "0" "931" "0" "c.931A>T" "r.(?)" "p.(Lys311Ter)" "8" "0000787497" "00018860" "90" "2491" "0" "2492" "0" "c.2491_2492del" "r.(?)" "p.(Leu832HisfsTer8)" "11" "0000801959" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" "0000829126" "00018860" "90" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Gln1068Ter)" "" "0000831394" "00018860" "90" "2599" "0" "2599" "0" "c.2599C>T" "r.(?)" "p.(Gln867*)" "" "0000831395" "00018860" "90" "3650" "0" "3650" "0" "c.3650G>A" "r.(?)" "p.(Gly1217Asp)" "" "0000831639" "00018860" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000831656" "00018860" "70" "2831" "0" "2831" "0" "c.2831A>G" "r.(?)" "p.(Glu944Gly)" "" "0000831658" "00018860" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000831659" "00018860" "70" "2831" "0" "2831" "0" "c.2831A>G" "r.(?)" "p.(Glu944Gly)" "" "0000831816" "00018860" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000831818" "00018860" "70" "3272" "0" "3272" "0" "c.3272G>T" "r.(?)" "p.(Gly1091Val)" "" "0000831831" "00018860" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Gly310Glu)" "" "0000831832" "00018860" "70" "3272" "0" "3272" "0" "c.3272G>T" "r.(?)" "p.(Gly1091Val)" "" "0000832574" "00018860" "90" "805" "2" "805" "2" "c.805+2T>C" "r.spl?" "p.?" "" "0000833034" "00018860" "70" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Leu95Val)" "" "0000833035" "00018860" "70" "3143" "0" "3143" "0" "c.3143T>C" "r.(?)" "p.(Leu1048Pro)" "" "0000833206" "00018860" "50" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Val1105Met)" "" "0000841062" "00018860" "90" "1782" "0" "1782" "0" "c.1782G>C" "r.(?)" "p.(Lys594Asn)" "11" "0000841203" "00018860" "90" "731" "1" "731" "1" "c.731+1G>A" "r.spl" "p.?" "6" "0000841208" "00018860" "90" "819" "0" "819" "0" "c.819dup" "r.(?)" "p.(Lys274*)" "8" "0000841212" "00018860" "90" "819" "0" "819" "0" "c.819dup" "r.(?)" "p.(Lys274*)" "8" "0000847159" "00018860" "90" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811Ter)" "" "0000847164" "00018860" "90" "3291" "0" "3291" "0" "c.3291del" "r.(?)" "p.(Thr1098ProfsTer18)" "" "0000847181" "00018860" "90" "3676" "-8" "3676" "-8" "c.3676-8G>A" "r.spl" "p.?" "" "0000847183" "00018860" "90" "1972" "0" "1972" "0" "c.1972C>T" "r.(?)" "p.(Arg658Cys)" "" "0000847475" "00018860" "90" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109*)" "14" "0000847483" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954*)" "11" "0000847484" "00018860" "90" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "15" "0000847487" "00018860" "90" "3617" "0" "3617" "0" "c.3617C>A" "r.(?)" "p.(Ala1206Asp)" "16" "0000847489" "00018860" "90" "2642" "0" "2642" "0" "c.2642A>G" "r.(?)" "p.(Asn881Ser)" "11" "0000847490" "00018860" "90" "3596" "0" "3596" "0" "c.3596G>A" "r.(?)" "p.(Trp1199*)" "16" "0000850830" "00018860" "10" "2913" "0" "2913" "0" "c.2913C>T" "r.(?)" "p.(Ser971=)" "" "0000850831" "00018860" "50" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Met879Val)" "" "0000850832" "00018860" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Ser186=)" "" "0000859812" "00018860" "30" "2020" "0" "2020" "0" "c.2020A>G" "r.(?)" "p.(Ser674Gly)" "" "0000886669" "00018860" "30" "21690" "0" "21690" "0" "c.*17823C>T" "r.(=)" "p.(=)" "" "0000886670" "00018860" "10" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Ala1121Val)" "" "0000886671" "00018860" "30" "3315" "0" "3315" "0" "c.3315G>A" "r.(?)" "p.(Val1105=)" "" "0000886672" "00018860" "10" "2872" "9" "2872" "9" "c.2872+9G>A" "r.(=)" "p.(=)" "" "0000886673" "00018860" "30" "2868" "0" "2868" "0" "c.2868A>G" "r.(?)" "p.(Leu956=)" "" "0000886674" "00018860" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Asp481=)" "" "0000886675" "00018860" "10" "1350" "0" "1350" "0" "c.1350G>A" "r.(?)" "p.(Pro450=)" "" "0000886676" "00018860" "50" "1322" "0" "1322" "0" "c.1322T>C" "r.(?)" "p.(Leu441Pro)" "" "0000912260" "00018860" "30" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Val230Ala)" "" "0000929039" "00018860" "90" "386" "-2" "386" "-2" "c.386-2A>C" "r.spl?" "p.?" "" "0000939873" "00018860" "70" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Gln811Ter)" "11" "0000939903" "00018860" "50" "3676" "-8" "3676" "-8" "c.3676-8G>A" "r.spl" "p.?" "" "0000946129" "00018860" "50" "284" "0" "284" "0" "c.284T>G" "r.(?)" "p.(Leu95Arg)" "" "0000946210" "00018860" "50" "3325" "0" "3325" "0" "c.3325C>T" "r.(?)" "p.(Arg1109Ter)" "" "0000948504" "00018860" "30" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Ala673Thr)" "" "0000948505" "00018860" "50" "1721" "0" "1721" "0" "c.1721A>G" "r.(?)" "p.(Asn574Ser)" "" "0000948506" "00018860" "30" "660" "0" "660" "0" "c.660G>C" "r.(?)" "p.(=)" "" "0000948507" "00018860" "30" "-23" "0" "-23" "0" "c.-23G>A" "r.(?)" "p.(=)" "" "0000976639" "00018860" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127Gln)" "" "0000976640" "00018860" "10" "1473" "0" "1473" "0" "c.1473C>T" "r.(?)" "p.(=)" "" "0000976641" "00018860" "30" "1195" "0" "1195" "0" "c.1195T>C" "r.(?)" "p.(Phe399Leu)" "" "0000976642" "00018860" "50" "505" "0" "505" "0" "c.505T>C" "r.(?)" "p.(Tyr169His)" "" "0000976643" "00018860" "10" "151" "15" "151" "16" "c.151+15_151+16del" "r.(=)" "p.(=)" "" "0000994771" "00018860" "30" "2873" "-16" "2873" "-16" "c.2873-16C>T" "r.(=)" "p.(=)" "" "0000994772" "00018860" "70" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" "0000994773" "00018860" "50" "2675" "0" "2675" "0" "c.2675A>C" "r.(?)" "p.(Gln892Pro)" "" "0000994774" "00018860" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(=)" "" "0001014094" "00018860" "50" "3610" "0" "3610" "0" "c.3610A>G" "r.(?)" "p.(Lys1204Glu)" "" "0001014095" "00018860" "10" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(His696Arg)" "" "0001034996" "00018860" "10" "3594" "0" "3594" "0" "c.3594A>C" "r.(?)" "p.(Pro1198=)" "" "0001034997" "00018860" "10" "3328" "-315" "3328" "-315" "c.3328-315G>A" "r.(=)" "p.(=)" "" "0001034998" "00018860" "10" "3327" "70" "3327" "70" "c.3327+70C>T" "r.(=)" "p.(=)" "" "0001034999" "00018860" "10" "3054" "-3980" "3054" "-3980" "c.3054-3980T>C" "r.(=)" "p.(=)" "" "0001035000" "00018860" "10" "3053" "103" "3053" "103" "c.3053+103G>A" "r.(=)" "p.(=)" "" "0001035001" "00018860" "10" "2872" "37" "2872" "37" "c.2872+37A>G" "r.(=)" "p.(=)" "" "0001035002" "00018860" "50" "2042" "0" "2042" "0" "c.2042A>T" "r.(?)" "p.(Asp681Val)" "" "0001035003" "00018860" "10" "1623" "0" "1623" "0" "c.1623G>A" "r.(?)" "p.(=)" "" "0001035004" "00018860" "10" "1587" "0" "1587" "0" "c.1587T>G" "r.(?)" "p.(Arg529=)" "" "0001035005" "00018860" "10" "1194" "0" "1194" "0" "c.1194T>C" "r.(?)" "p.(Gly398=)" "" "0001035006" "00018860" "10" "1002" "-119" "1002" "-119" "c.1002-119G>A" "r.(=)" "p.(=)" "" "0001035007" "00018860" "10" "529" "178" "529" "178" "c.529+178C>T" "r.(=)" "p.(=)" "" "0001035008" "00018860" "10" "53" "-161" "53" "-161" "c.53-161C>T" "r.(=)" "p.(=)" "" "0001035009" "00018860" "10" "52" "237" "52" "237" "c.52+237G>A" "r.(=)" "p.(=)" "" "0001046018" "00018860" "30" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127Gln)" "" "0001049723" "00018860" "50" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Asp449Asn)" "" "0001059147" "00018860" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 139 "{{screeningid}}" "{{variantid}}" "0000016365" "0000036179" "0000016366" "0000036179" "0000037149" "0000064274" "0000037150" "0000064275" "0000037151" "0000064276" "0000037152" "0000064277" "0000037153" "0000064278" "0000037154" "0000064279" "0000037155" "0000064280" "0000145288" "0000236387" "0000145931" "0000238525" "0000145932" "0000238526" "0000145933" "0000238527" "0000145934" "0000238528" "0000145935" "0000238529" "0000145936" "0000238530" "0000145937" "0000238531" "0000145938" "0000238532" "0000145939" "0000238533" "0000145940" "0000238534" "0000145941" "0000238535" "0000145942" "0000238536" "0000145943" "0000238537" "0000145944" "0000238538" "0000145945" "0000238539" "0000145946" "0000238540" "0000145947" "0000238541" "0000145948" "0000238542" "0000145949" "0000238543" "0000145950" "0000238544" "0000145951" "0000238545" "0000145952" "0000238546" "0000145953" "0000238547" "0000145954" "0000238548" "0000145955" "0000238549" "0000145956" "0000238550" "0000145957" "0000238551" "0000208441" "0000438293" "0000208615" "0000438529" "0000208616" "0000438530" "0000208616" "0000438531" "0000208617" "0000438532" "0000208617" "0000438533" "0000208618" "0000438534" "0000208618" "0000438535" "0000208619" "0000438536" "0000209576" "0000439729" "0000209580" "0000439733" "0000209595" "0000439753" "0000211067" "0000442485" "0000220150" "0000455061" "0000220150" "0000455062" "0000220151" "0000455063" "0000220152" "0000455064" "0000220152" "0000455065" "0000220153" "0000455066" "0000220153" "0000455067" "0000220154" "0000455068" "0000220154" "0000455069" "0000220155" "0000455070" "0000267291" "0000598343" "0000267291" "0000598345" "0000294947" "0000651636" "0000294948" "0000651637" "0000294949" "0000651638" "0000294950" "0000651639" "0000294951" "0000651640" "0000294952" "0000651641" "0000294953" "0000651642" "0000294954" "0000651643" "0000294955" "0000651644" "0000294956" "0000651645" "0000294957" "0000651646" "0000297084" "0000659695" "0000297162" "0000659787" "0000297672" "0000660281" "0000301143" "0000664038" "0000301144" "0000664039" "0000301145" "0000664040" "0000301212" "0000664107" "0000301213" "0000664108" "0000301214" "0000664109" "0000301215" "0000664110" "0000301228" "0000664123" "0000301230" "0000664183" "0000301243" "0000664184" "0000301244" "0000664139" "0000301250" "0000664145" "0000301260" "0000664155" "0000301269" "0000664164" "0000301273" "0000664168" "0000301276" "0000664171" "0000301277" "0000664172" "0000301278" "0000664173" "0000301279" "0000664174" "0000301280" "0000664175" "0000301281" "0000664176" "0000301282" "0000664177" "0000301283" "0000664178" "0000306147" "0000669835" "0000312188" "0000687742" "0000312188" "0000687743" "0000375563" "0000787497" "0000375682" "0000787033" "0000375683" "0000787034" "0000397270" "0000829126" "0000399021" "0000831394" "0000399078" "0000831395" "0000399284" "0000831639" "0000399284" "0000831656" "0000399302" "0000831658" "0000399302" "0000831659" "0000399450" "0000831816" "0000399450" "0000831818" "0000399451" "0000831831" "0000399451" "0000831832" "0000399908" "0000832574" "0000400226" "0000833034" "0000400228" "0000833035" "0000400363" "0000833206" "0000405052" "0000841062" "0000405137" "0000841203" "0000405140" "0000841208" "0000405146" "0000841212" "0000409943" "0000847159" "0000409943" "0000847181" "0000409948" "0000847164" "0000409948" "0000847183" "0000410210" "0000847475" "0000410216" "0000847483" "0000410216" "0000847484" "0000410219" "0000847487" "0000410221" "0000847489" "0000410221" "0000847490" "0000441931" "0000939873" "0000441931" "0000939903" "0000444273" "0000946129" "0000444273" "0000946210" "0000471025" "0001059147"